US 20120053062A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2012/0053062 A1 BROOKS (43) Pub. Date: Mar. 1, 2012

(54) DEFINING DAGNOSTIC AND Publication Classification THERAPEUTIC TARGETS OF CONSERVED FREE FLOATING FETAL DNA IN MATERNAL (51) Int. Cl. CIRCULATING BLOOD C40B 20/00 (2006.01) G06F 7/30 (2006.01) (75) Inventor: Andrew BROOKS, New York, NY C40B 40/06 (2006.01) (US) (73) Assignee: Bio Dx, Inc., San Diego, CA (US) (52) U.S. Cl...... 506/2:506/16; 707/758; 707/E17.014 (21) Appl. No.: 13/216,992 (22) Filed: Aug. 24, 2011 (57) ABSTRACT Related U.S. Application Data The present invention provides methods and materials useful (60) Provisional application No. 61/376,637, filed on Aug. for detecting cell free fetal DNA as well as markers for fetal 24, 2010. conditions by using biological samples of a maternal host. US 2012/0053062 A1 Mar. 1, 2012

DEFINING DAGNOSTIC AND 0009. In one embodiment, the conserved genomic seg THERAPEUTIC TARGETS OF CONSERVED ment is a genomic segment provided in Table 1. In one FREE FLOATING FETAL DNA IN MATERNAL embodiment, the conserved genomic segment includes any CIRCULATING BLOOD probe identified in Table 1. In another embodiment, the con served genomic segment includes any geneidentified in Table CROSS REFERENCE TO RELATED 1. In yet another embodiment, the conserved genomic seg APPLICATIONS ment is a fragment of a gene identified in Table 1, e.g., a fragment associated with any genotype marker of a gene 0001. This application claims priority to U.S. Provisional identified in Table 1. In still another embodiment, the con Application No. 61/376,637 filed, Aug. 24, 2010, which is served genomic segment is any gene identifiable by the probe incorporated by reference herein in its entirety. or associated with the probe identified in Table 1. 0010. In one embodiment, the method comprises detect FIELD OF THE INVENTION ing the genotypes of at least two, at least three, at least four, at 0002 The present invention provides for detecting and least five, at least six, at least seven, at least eight, at least nine, characterizing fetal genetic material, e.g., fetal DNA in at least ten, at least 20, at least 50, at least 100, at least 150, at maternal samples, e.g., maternal blood as well as identifica least 200, at least 250, at least 500, at least 600, at least 700, tion of fetal conditions based on non-invasive prenatal test or at least 800 conserved genomic segments provided in Table 1ng. 1 in a biological sample of a maternal host and comparing the genotypes to the corresponding maternal genotypes to deter BACKGROUND OF THE INVENTION mine the presence of fetal DNA based on one or more differ ences between the genotype of the sample and the genotype of 0003. The challenges associated with DNA diagnostics the maternal host. from free floating fetal DNA are many. Issues associated with 0011. In one embodiment, the genotype of a conserved the amount of DNA, enrichment of fetal specific DNA, genomic segment comprises the profile of any one or more nucleic acid purity and understanding the specific fetal DNA genetic makeup suitable for distinguishing one genome from sequence that is conserved across pregnancies and Subjects another genome. For example, the genotype of a conserved are among the largest hurdles. Currently there is no satisfac genomic segment can comprise the profile of single nucle tory methodology for determining the presence offetal DNA otide polymorphism (SNP), restriction fragment length poly prior to diagnostic testing which adversely affects the ability moprhism (RFLP), short tandem repeats (STR), DNA to report consistent and reliable data. There is also lack of sequence, or any combination thereof. In one embodiment, sufficient characterization of free floating fetal DNA that can the genotype of a conserved genomic segment comprises the be used to identify specific sequences (in addition to disease profile of SNP. In yet another embodiment, the genotype of targets) that can be used to obtain a high rate of Success in one or more conserved genomic segments comprises the pro assay development across pregnancies. file of at least about 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 15, 20, 25, 30, 0004 Sequence and mutation specific assay development 35, 40, 50, 60, 70, 80, 90, or 100 SNPs in one or more is currently difficult to carry out given the variability associ conserved genomic segments. ated with prenatal nucleic acid analysis from maternal whole 0012. In one embodiment, the biological sample of a blood. maternal host includes any processed or unprocessed, Solid, 0005. As such, there remains a need in the art for methods semi-solid, or liquid biological sample, e.g., blood, urine, and approaches of detecting fetal DNA and related fetal con saliva, mucosal samples (such as samples from uterus or ditions. vagina, etc.). For example, the biological sample of a mater 0006. The present invention describes a technological nal host can be a sample of whole blood, partially lysed whole approach for detecting and characterizing fetal genetic mate blood, plasma, partially processed whole blood. In one rial in maternal samples. In addition, the present invention embodiment, the biological sample of a maternal host is a provides methods and related materials for identifying fetal sample of cell free DNA or free floating DNA from the whole conditions based on fetal genetic materials in maternal samples. blood of the maternal host. 0013. In one embodiment, the biological sample of a maternal host is enriched for fetal DNA. In one embodiment, SUMMARY OF THE INVENTION the biological sample of a maternal host is enriched for fetal 0007. The present invention is based, in part, on the dis DNA by DNA size fractionation. In one embodiment the covery that certain fetal genetic materials are conserved in fraction of DNA containing fetal DNA is characterized by maternal biological samples, e.g., maternal blood. Accord having a size of about less than 500 base pairs, or about 50 to ingly the present invention provides methods and materials about 500 base pairs or about 50 to about 400 base pairs, or useful for detecting fetal genetic material as well as for iden about 50 to about 300 base pairs, or about 50 to about 200 base tification of fetal conditions. pairs, or about 50 to about 100 base pairs. 0008. In one aspect, the present invention provides a 0014. In one embodiment, the genotype of at least one method for detecting the presence of fetal DNA in a biologi conserved genomic segment in a biological sample of a cal sample of a maternal host. In one embodiment, the method maternal host that has been enriched for fetal DNA is deter comprises identifying the genotype of at least one conserved mined and compared to a maternal genotype for the same genomic segment in a biological sample of a maternal host conserved genomic segments in a maternal cell sample. In and comparing the genotype to the corresponding maternal one embodiment, the maternal biological sample enriched for genotype to determine the presence of fetal DNA based on fetal DNA is a whole blood sample. In a further embodiment, one or more differences between the genotype of the sample the maternal cell sample is derived from a maternal whole and the genotype of the maternal host. blood sample, e.g., prior to pregnancy. US 2012/0053062 A1 Mar. 1, 2012

0015. In another aspect, the invention provides for a 0021. In one embodiment, the genetic maker is associated method of detecting the presence or absence of a genetic with an aneuploidy. In one embodiment, the aneuploidy is a condition in a fetus comprising detecting the presence or trisomy. In a further embodiment, the genetic marker associ absence of a genetic marker in a biological sample obtained ated with a trisomy is within one or more of the chromosomal from the maternal host of a fetus. In one embodiment, the locations selected from the group consisting of X21.2-Xp21. genetic marker is within a chromosomal location conserved 1, 17q11.2-17q11.2, 3p26-3p25, 5q13-5q13, 16q24.3-16cq24. in cell free fetal DNA in the biological sample of the maternal 3, 1q24.2-1q23 and/or 11cq22-11q23. In one embodiment, the host. In one embodiment, the chromosomal location is genetic marker associated with a trisomy is within a chromo selected from the chromosomal locations listed in Table 2. In somal location of chromosome 13, 14, 15, 16, 18, 21, 22, Xor one embodiment, the presence or absence of the genetic Y. In another embodiment, the genetic marker includes a marker indicates the presence or absence of the genetic con panel of genetic markers from a chromosomal location of dition in the fetus. chromosome 13, 14, 15, 16, 18, 21, 22, X, Y, or any combi 0016. In one embodiment, the biological sample of a nation thereof. In yet another embodiment, the generic maternal host includes any processed or unprocessed, Solid, marker includes a panel of genetic markers from one or more semi-solid, or liquid biological sample, e.g., blood, urine, chromosomal locations of X21.2-Xp21. 1, 17q11.2-17q11.2, saliva, mucosal samples (such as samples from uterus or 3p26-3p25, 5q13-5q13, 16q24.3-16c24.3, 1q24.2-1q23. vagina, etc.). For example, the biological sample of a mater 11q22-11q23 or any combination thereof. nal host can be a sample of whole blood, partially lysed whole 0022. In one aspect, the current invention provides a blood, plasma, partially processed whole blood. In one method for selecting a genetic marker for determining a embodiment, the biological sample of a maternal host is a genetic condition of a fetus in a biological sample of a mater sample of cell free DNA or free floating DNA from the whole nal host of the fetus by identifying a group of genetic markers blood of the maternal host. associated with a genetic condition to be determined for the 0017. In one embodiment, the biological sample of a fetus in a biological sample of a the maternal host, identifying maternal host is enriched for fetal DNA. In one embodiment, within the group of genetic markers, a Subset of genetic the biological sample of a maternal host is enriched for fetal makers that are within one or more chromosomal locations DNA by DNA size fractionation. In one embodiment the conserved in cell free fetal DNA in the biological sample of fraction of DNA containing fetal DNA is characterized by the maternal host, selecting the Subset of genetic markers for having a size of about less than 500 base pairs, or about 50 to assay testing and determining the genetic condition of the about 500 base pairs or about 50 to about 400 base pairs, or fetus based on the results obtained from assay testing. about 50 to about 300 base pairs, or about 50 to about 200 base 0023. In another aspect, the current invention provides for pairs, or about 50 to about 100 base pairs. a databases in a computer readable medium comprising con 0018. In one embodiment, prior to, concurrent with or served genomic segments. In one embodiment, the conserved Subsequent to the detection of the presence or absence of a genomic segments are those conserved genomic segments genetic marker, the presence of fetal DNA is confirmed in the provided for in Table 1. In a further embodiment, the database biological sample. In one embodiment, the presence of fetal is searchable based on an identifier for each chromosomal DNA is confirmed in the biological sample by identifying the location or gene provided in Table 1. genotype of at least one conserved genomic segment in the 0024. In one aspect, the current invention provides for a biological sample and comparing the genotype to the corre computer readable medium comprising chromosomal loca sponding maternal genotype to determine the presence of tions provided in Table 2. In one embodiment, the database is fetal DNA based on one or more differences between the searchable based on an identifier for each chromosomal loca genotype of the sample and the genotype of the maternal host. tion provided in Table 2. 0019. In one embodiment, the genetic marker is a combi 0025. In one aspect, the current invention provides an nation of a first genetic marker from a first chromosomal array of probes useful for detectingapanel of genetic markers location conserved in cell free fetal DNA and a second genetic within one or more chromosomal locations provided in Table marker from a second chromosomal location conserved in 2. cell free fetal DNA. In another embodiment, the first and second chromosomal locations are different. In a further DETAILED DESCRIPTION embodiment, the method further includes a third genetic marker from a third chromosomal location in cell free fetal 0026. The present invention is based, in part, on the dis DNA. In still another embodiment, the method further covery that certain fetal genetic materials are conserved in includes a fourth genetic marker from a fourth chromosomal maternal biological samples, e.g., maternal blood. Accord location in cell free fetal DNA. In yet another embodiment, ingly the present invention provides methods and materials the method further includes a fifth genetic marker from a fifth useful for detecting fetal genetic material as well as for iden chromosomal location in cell free fetal DNA. In one embodi tification of fetal conditions. ment, the third, fourth and/or fifth chromosomal locations are 0027. In one step of the invention, the presence of fetal different from the first two and each other. In another embodi DNA is detected in a biological sample of a maternal host of ment, the first and second chromosomal locations, and a fetus. Specifically, cell free fetal DNA is detected in a whole optionally the third, fourth, and fifth chromosomal locations blood sample of a pregnant female. By “cell free fetal DNA are on the same or different chromosomes. is meant, DNA that is derived from the fetus and not the 0020. In one embodiment, the genetic marker is associated mother and is not within a cell. In one embodiment, cell free with skeletal dysplasia. In a further embodiment, the genetic fetal DNA includes fetal DNA circulating in maternal blood. marker is associated with spinal muscular atrophy. In yet In another embodiment, cell free fetal DNA includes fetal another embodiment, the genetic marker is located within the DNA existing outside of a cell, for example a fetal cell. In yet chromosomal location 5q13-5q13. another embodiment, cell free fetal DNA includes fetal DNA US 2012/0053062 A1 Mar. 1, 2012

existing outside of a cell as well as fetal DNA present in 0031. In one aspect of the invention, the genotype of one or maternal blood sample after Such blood sample undergoing more of the conserved genomic fragments listed in Table 1 is partial or gentle cell lysing. determined. By "conserved genomic fragments' is meant, the 0028. In this aspect of the invention, a biological sample, entire length or a fragment thereof the probe given in Table 1, any gene identified in Table 1, or any fragment of a gene such as a whole blood sample, is obtained from the maternal identified in Table 1. In one embodiment, conserved genomic host of a fetus, and the genotype of at least one conserved fragments include a panel of fragments within one or more genomic segment in the biological sample of the maternal probes or genes identified in Table 1. In one aspect of the host is determined. The one or more conserved genomic invention, the genotypes of about 5 to about 500 of the con segment is one or more of the identified conserved genomic served genomic fragments given in Table 1 are determined. In segments listed in Table 1. The genotype of the biological another aspect of the invention, the genotypes of about 10 to sample of the maternal host is then compared with the geno about 400 of the conserved genomic fragments given in Table type of the same conserved genomic segment of the mother. A 1 are determined. In yet another example, the genotype of difference in maternal genotype and the genotype determined about 20 to about 300 of the conserved genomic fragments from the biological sample of the maternal host of the fetus given in Table 1 is determined. In still another embodiment, indicates the presence of fetal DNA in the biological sample the genotypes of about 30 to about 200 of the conserved of the maternal host. genomic fragments given in Table 1 are determined. In 0029. In this aspect of the invention, the biological sample another embodiment, the genotypes of about 40 to about 100 from the maternal host can be enriched for fetal DNA by any of the conserved genomic fragments given in Table 1 are means known in the art. In the first trimester fetal DNA is determined. approximately 6% of the total cell free DNA found in mater 0032. By “maternal host of a fetus' is meant the woman nal blood. This percentage increases as gestation ages who is pregnant with the fetus whose DNA is sought to be progresses. However, the entire fetal DNA genome is not detected and/or tested for a genetic condition. The term present in any given sample, e.g., only certain fragments of “maternal host of a fetus,” “maternal host' and “mother are fetal DNA genome are consistently present or conserved in used interchangeably. By “fetus' is meant in uterus develop maternal biological samples. In addition, the fetal DNA spe ing offspring of any gestational stage. Fetal DNA can be cies that are found in circulating maternal blood are generally detected prior to the “fetal period which begins at 11 weeks smaller in size than that of maternal DNA. Therefore, fetal of gestation in human. Therefore, “fetus' encompasses not DNA may be enriched by DNA size fractionation. In this only the developing offspring in the fetal period but also in the method, DNA is separated based on size. The fetal DNA earlier embryonic stages of development prior to the 11" fraction is characterized as the fraction of DNA having a size week of human gestation. of less than about 500 base pairs, for example about 50 to 0033. By “biological sample” is meant any sample that is about 500 base pairs or about 50 to about 400 base pairs, or derived from the maternal host of the fetus. In one embodi about 50 to about 300 base pairs or about 50 to about 200 base ment, the biological sample of a maternal host includes any pairs or about 50 to about 100 base pairs. Thus, isolating the processed or unprocessed, solid, semi-solid, or liquid biologi fraction of DNA having a size of less than about 500 base cal sample, e.g., blood, urine, saliva, mucosal samples (such pairs, particularly the fraction having a size of about 50 to as samples from uterus or vagina, etc.). For example, the about 300 enriches the fetal DNA in a biological sample of biological sample of a maternal host can be a sample of whole maternal host. The enriched fetal DNA fraction can then be blood, partially lysed whole blood, plasma, partially pro used to determine the genotype of the fetus by determining cessed whole blood. In one embodiment, the biological the genotype of at least one conserved genomic segment sample of a maternal host is a sample of cell free DNA or free listed in Table 1. This genotype is then compared to the floating DNA from the whole blood of the maternal host. genotype of the same one or more conserved genomic seg 0034 Inafurther aspect, the current invention provides for ments from the mother. The maternal genotype can be deter a method of non-invasive genetic testing of a fetus by detect mined by determining the genotype of the one ore more ing the presence or absence of a genetic marker associated conserved genomic segments in the biological sample prior to with a genetic condition in a fetus. For example, a method is enriching for fetal DNA or by determining the genotype of the provided for the detection of the presence or absence of a one or more conserved genomic segments in the fraction of genetic marker in a fetus by detecting the presence or absence DNA containing DNA larger than about 250 base pairs after of the genetic marker in a biological sample obtained from a size fractionation. Alternatively, the genotype can be com maternal host of a fetus. The presence or absence of the pared to a maternal genotype of the conserved genomic seg genetic marker indicates the presence or absence of the ments determined prior to the pregnancy. genetic condition. 0030. By “genotype' is meant the genetic makeup of a cell 0035. In some aspects, the invention provides first detect or an individual (i.e. a fetus or the maternal host of a fetus). ing the presence of fetal DNA in a sample from a maternal The genotype may be determined by any method known in host of fetus by the methods described above, then testing the the art. For example, the genotype of the fetus or the maternal detected fetal DNA for the presence or absence of a genetic host of a fetus may be determined by DNA sequencing, for marker associated with a disease or condition. example NextGen sequencing, SNP, RFLP or STR analysis. 0036 By “genetic marker' is meant any genetic marker For SNP analysis any number of SNPs may be used to deter known to be associated with a disease or condition. In one mine the genotype. For example, a panel of 96 SNPs allows embodiment, the genetic marker is located within a chromo for the SNP pattern to repeat in every 2x10° individuals, somal location conserved in cell free fetal DNA in the bio thereby giving a high probability of genetic identity. Methods logical sample of the maternal host. For example, the chro of determining genotypes by DNA sequencing, SNP, RFLP, mosomal location is one or more of the chromosomal and STR are well known in the art. locations/genes listed in Table 2. In some embodiments, a US 2012/0053062 A1 Mar. 1, 2012 condition is detected in a fetus by detecting the presence or for assay testing, for example, PCR or DNA sequencing absence of a marker located injust one chromosomal location analysis to determine the presence or absence of the marker. listed in Table 2. In other embodiments, a condition is Lastly, the biological sample is assayed for the presence or detected in a fetus by detecting the presence or absence of more than one genetic markers, for example two, three, four, absence of the selected genetic marker and the genetic con five, or more than five markers in one or more chromosomal dition of the fetus is determined based on the results of the locations/genes listed in Table 2. In some embodiments, the assay. genetic marker can be a mutation in the one or more chromo 0042. In addition to methods of detecting and characteriz Somal locations or genes listed in Table 2. The mutation can ing fetal DNA and methods of selecting genetic markers, the be an insertion, deletion, frame shift, Substitution, or any invention also provides for a database in a computer readable other mutations known in the art. medium comprising the conserved genomic segments in 0037. The presence or absence of the genetic marker can be determined by any method known in the art, for example, Table 1. In a particular embodiment, the database is search DNA sequencing, or PCR. able based on an identifier for each conserved genomic seg 0038. In some embodiments, the presence or absence of ment provided in Table 1. Such identifiers include, but are not the one or more genetic markers can be detected in enriched limited to, the chromosomal location, the alignment probe ID. fetal DNA derived from a whole blood sample from the the sequence of the segment, gene symbol, the accession maternal host of the fetus. By way of example, a whole blood number, the segment description, and any other useful iden sample may be taken from the maternal host of the fetus and tifier. size fractionated as described above, to obtain a sample of 0043. The invention also provides for a computer readable enriched fetal DNA. The enriched fetal DNA is then tested by medium comprising the chromosomal locations provided for any method known in the art, for example, DNA sequencing in Table 2. In a particular embodiment, the database is search or PCR, to detect the presence or absence of a genetic marker able based on identifiers for each of the chromosomal loca within one or more chromosomal locations listed in Table 2. tions provided in Table 2. Such identifiers include, but are not The results of the fetal DNA testing done by this method may limited to, gene name, genbank ID number, gene sequence, be further compared against the same genetic marker testing chromosomal location, associated genetic condition, and any of un-enriched whole blood derived from the mother, or frac other useful identifier. tionated DNA of larger size containing maternal DNA or a 0044) The invention also provides arrays of probes useful DNA sample obtained from the maternal host prior to preg nancy to confirm the presence or absence of the genetic for genetic testing offetal DNA and/or fetal conditions. In one marker is being detected in the fetal DNA and not the mater embodiment, the array of the present invention includes nal DNA. probes useful for detecting one or more genetic markers within one or more chromosomal locations listed in Table 2. 0039. The genetic condition to be detected can be any In one embodiment, the array of the present invention condition listed in Table 2. For example, the condition can be includes probes useful for detecting one or more conserved spinal muscularatrophy and may be detected by detecting the segments provided in Table 1. In another embodiment, the presence of one or more genetic markers within the 5q13 array contains one or more, or 10 or more or 50 or more or 100 5q13 chromosomal location. or more defined DNA probes selected from those listed in 0040. The methods of the present invention are also useful Table 1 which can be hybridized to the DNA derived from the in detecting the presence or absence of aneuploidies, includ maternal biological sample to detect and increase or decrease ing monosomies or trisomies. For example, the methods of in copy number changes in the DNA. In this embodiment, the the current invention are useful in detecting trisomy 13, 14. array can detect an increase or decrease in the copy number of 15, 16, 18, 21, 22, X, and/or Y. In a specific embodiment, any particular DNA region encompassed within a particular trisomy 21 is detected by measuring the DCR gene located at probe, thereby signifying an increased copy number and the chromosome 21q22.2-21q22.3, the CBS gene located at presence of fetal DNA. In some embodiments, the array is chromosome 21q22.2-21q22.3, the KNO gene at 21q22.3- customized to detect only certain chromosomal locations cor 21q22.3 and/or the SOD1 gene at chromosoome 21q22.1- responding to particular genetic markers in Table 2 which are 21q22.1 or any combination thereof. useful in detecting a particular condition, for example, tri 0041. The current invention further provides for a method somy. In this embodiment, probes from Table 1 are selected for selecting a genetic marker for determining the genetic which correspond to the chromosomal locations encompass condition of a fetus in a biological sample of a maternal host ing the genetic markers of the particular genes of interest of a fetus. In this aspect of the invention, a genetic marker is listed in Table 2. In other embodiments, the array contains a selected by first identifying a group of genetic markers asso random sampling of the probes listed in Table 1. In another ciated with the genetic condition to be determined for the embodiment, the array contains all of the probes listed in fetus followed by determining which of these markers among Table 1. In some embodiments, the probes are attached to the the group of genetic markers identified as being associated array ready for hybridization of DNA from the maternal bio with the particular condition fall within one or more chromo logical sample. In other embodiments, the probes are con somal locations conserved in cell free fetal DNA in the mater tained in solution ready for attachment by the end user. In this nal host of the mother. Next, the subset of markers that fall embodiment, the array may be customized by the end user to within these one or more chromosomal locations is selected allow attachment of only particular probes of interest. US 2012/0053062 A1 Mar. 1, 2012

TABLE 1.

Chromosomal Agi ent Gene Location Probe ID Symbol Accession Description hSchr1: 114435166-1144.35226 A. 6 P15264986 entg|SYT6 refNM 205848 reflomo sapiens synaptotagmin VI (SYT6), mRNA. hSchr1: 11474.3586-114743645 A. 4 P112940 entg|TRIM33 refNM O15906 ref Homo sapiens tripartite motif. refNM 033020 containing 33 (TRIM33), transcript varianta, mRNA. hSchr1: 114913877-114913937 P15266009 entg|BCAS2 refNM OO5872 reflomo sapiens breast carcinoma amplified sequence 2 (BCAS2), mRNA. hSchr1: 11493.1604-114931662 P15266059 entg|DENND2C refNM 198459 ref Homo sapiens DENN/MADD domain containing 2C (DENND2C), mRNA. Schr1: 115O17266-115O17326 P105570 entg|AMPD1 refNM 000036 reflomo sapiens adenosine monophosphate deaminase 1 (isoform M) (AMPD1), mRNA. Schr1: 11SOS3836-11SOS3896 P103853 entg|NRAS refNM 002524 reflomo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. Schr1: 115070345-1150704OS POO151987 entg|CSDE1 refNM OO1.007553 reflomo sapiens cold shock domain re containing E1, RNA-binding NM 007158 (CSDE1), transcript variant 1, mRNA. Schr1: 115120477-11512O537 entg|SIKE refNM O25073 ref Homo sapiens suppressor of IKK epsilon (SIKE), mRNA. S l: 2214130-12214190 P35031747 entg|VPS13D refNM O15378. reflomo sapiens vacuolar protein refNM 018156 Sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. S l: 255.0506-1255.0566 POOO16149 entg|DHRS3 refNM OO4753 ref Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA. S l: 2632722-12632782 P127931 entg|AADACL4 refNM 001013630 reflomo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. S l: 2776478-12776535 POOO16397 entg|PRAMEF1 refNM 023013 ref Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. S l: 43623627-143623687 P15281639 entg|PDE4DIP refNM 014644 reflomo sapiens phosphodiesterase refNM 0010O2811 4D interacting protein (myomegalin) refNM 001002812 (PDE4DIP), transcript variant 1, mRNA. S l: 4381S232-143815289 P105608 entg|SEC22B refNM 004892 ref Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (SEC22B), mRNA. S l: 44.124744-144124804 P131300 entg|HFE2 refNM 145277| reflomo sapiens hemochromatosis refNM 202004 type 2 (juvenile) (HFE2), transcript re variant b, mRNA. NM 213652 refNM 213653 S l: 44.151603-144151663 P1371.69 entg|TXNIP refNM OO6472 ref Homo sapiens thioredoxin interacting protein (TXNIP), mRNA. S l: 44.168032-144168,092 A. P112233 entg|POLR3GL refNM 032305 ref Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32 kD)-like (POLR3GL), mRNA. S l: 44.185298-144185345 A. P35294.813 entg|ANKRD34 refNM OO1039888 reflomo sapiens ankyrin repeat domain 34 (ANKRD34), mRNA. S l: 44.188985-144189045 A. P122491 entg|LIX1L refNM 153713 reflomo sapiens Lix1 homolog (mouse)-like (LDX1L), mRNA. S l: 4421.9514-144219565 A. entg|RBM8A refNM 005105 ref Homo sapiens RNA binding motif protein 8A (RBM8A), mRNA. S l: 44232911-144232971 A. P102523 entg|PEX11B refNM OO3846 reflomo sapiens peroxisomal biogenesis factor 11B (PEX11B), mRNA. S l: 44236527-14423.6587 P35294963 entg|ITGA10 refNM OO3637 reflomo sapiens integrin, alpha 10 (ITGA10), mRNA. S l: 44288:579-144288,637 P134227 entg|PIAS3 refNM OO6099 ref Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA. S l: 442.98474-144298532 POO159877 entg|NUDT17 refNM 001012758 reflomo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 17 (NUDT17), mRNA. S l: 443O8251-1443O8311 P122423 entg|POLR3C refNM OO6468 ref Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62 kD) (POLR3C), mRNA. S l: 4433,7593-144337653 P15283520 entg|ZNF364 refNM O14455 reflomo sapiens Zinc finger protein 364 (ZNF364), mRNA. US 2012/0053062 A1 Mar. 1, 2012

TABLE 1-continued

Chromosomal Agi ent Gene Location Probe ID Sym bol Accession Description

hSchr1: 1444O7857 444O7917 4 P102237 el CD160 re NM 007053 ref Homo sapiens CD160 molecule (CD160), mRNA. hschr1: 14444.0681 4444O741 6 P35295539 el re NM 002614 ref Homo sapiens PDZ domain containing 1 (PDZK1), mRNA. hSchr1: 144764770 44764.828 6 P352961-61 el NBPF11 re NM 1833.72 reflomo sapiens neuroblastoma breakpoint family, member 1 (NBPF11), mRNA. hSchr1: 150903.667 50903712 A. el re ref Homo sapiens e corni ie eWe pe 2D (LC 5. mRNA. hSchr1: 150915SO3 509 15553 A. el re ref mo Sapiens ewe pe 2C (LC E. mRNA. hSchr1: 15092629O SO926.344 A. 4 P13362O el re e i. mo Sapiens ewe pe 2B (LC E. mRNA. Schr1: 15093.7952 SO938009 A. 4 P100722 el re e i. mo Sapiens ew pe 2A (LC E. mRNA. hSchr1: 150999073 SO999.133 A. 6 POO16S508 el KPRP re e mo Sapiens keratinocyte pro ine-rich protein (KPRP) hSchr1: 151O26227 S102628S A. 4 P131413 el re NM 178353 e mo Sapiens late corni ew pe 1E (LCE1E), mRNA. hSchr1: 151036434 51036494 A. 6 P3531 OOOO el re NM 178352 e mo Sapiens late corni ewi pe 1 D (LCE 1 hSchr1: 15104.4658 S1044718 A. 4 P138003 el re NM 178351 e mo Sapiens late corni e t pe 1 C (LCE 1 hSchr1: 15105.1979 51052027 A. 4 P134645 el re NM 178349 mo Sapiens late corni e pe 1B (LCE1 B), mRNA. hschr1: 151121644 S1121704 A. 4 P131912 el SMCP re NM 030663 reflomo sapiens sperm mitochondria-associated cysteine rich protein (SMCP), nuclear gene encoding mitochondrial proteieln, mRNA. hSchr1: 151148957 S11490OS A. 4 P120925 el re NM 005547 ref Homo sapiens involucrin (IVL), mRNA. hSchr1: 151210846 S1210906 A. 4 P122655 el SPRR4 re NM 173080 reflomo sapiens Small pro ine-rich protein 4 (SPRR4), mRNA. hSchr1: 1512241.96 S1224256 A. 4 P124410 el SPRR1A re NM OO5987 reflomo sapiens Small pro ine-rich protein 1A (SPRR1A), mRNA. hSchr1: 151242O09 S1242069 A. 4 P1.16391 el SPRR3 re NM 005416 reflomo sapiens Small pro ine-rich protein 3 (SPRR3), mRNA. hSchr1: 151271033 S1271088 A. 4 P120073 el SPRR1B re NM OO3125 reflomo sapiens Small pro ine-rich protein 1B (cornifin) (SPRR1B), mRNA. hSchr1: 15128O809 6 P15297784 el SPRR2D re NM OO6945 reflomo sapiens Small pro ine-rich protein 2D (SPRR2D), mRNA. hSchr1: 151443781 51443841 6 POO166054 el LELP1 re NM 001010857 reflomo sapiens late corni ied envelope-like proline-rich 1 (LELP1), mRNA. hSchr1: 1515OOO23 515 00072 4 P110433 el LOR re NM 000427 ref Homo sapiens loricrin (LOR), mRNA. hSchr1: 151541460 S1541,519 6 P15298.291 el PGLYRP3 re NM 052891 reflomo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA. hSchr1: 151576489 51576549 4 P102942 el PGLYRP4 re reflomo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA. hSchr1: 151599178 51599.238 4 P100749 el re NM OO2965 ref Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA. hSchr1: 151612984 S1613042 4 P124338 el S100A12 re NM OO5621 ref Homo sapiens S100 calcium binding protein A12 (S100A12), mRNA. hSchr1: 1516292.65 S1629319 4 P105363 el re NM OO2964 ref Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA. hSchr1: 151657O16 51657076 4 P106240 el re NM 176823 ref Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA. hSchr1: 151676848 S1676908 6 P15298617 el re NM OO1045479 ref Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA hSchr1: 151698217 51698.277 el S100A7 re NM OO2963 ref Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA. US 2012/0053062 A1 Mar. 1, 2012

TABLE 1-continued Chromosomal Agilent Gene Location Probe ID Symbol Accession Description hs|chr1: 151780744-151780804. A 16 POO166502 entg|S100A5 refNM OO2962 ref Homo sapiens S100 calcium binding protein A5 (S100A5), mRNA. hs|chr1: 151800251-151800311 A 16 P15298906 entg|S100A2 refNM OO5978 ref Homo sapiens S100 calcium binding protein A2 (S100A2), mRNA. hschr1: 151851895-151851947 A 14 P118231 entg|S100A16 refNM 080388 ref Homo sapiens S100 calcium binding protein A16 (S100A16), mRNA. hschr1: 151854423-151854471. A 14 P107098 entg|S100A14 refNM O2O672 ref Homo sapiens S100 calcium binding protein A14 (S100A14), mRNA. hschir1: 151859028-1518.59088 A 14 P105005 entg|S100A13 refNM 001024213 ref Homo sapiens S100 calcium re binding protein A13 (S100A13), NM 001024212 transcript variant 5, mRNA. refNM 001024211 refNM OO5979 re NM 001024210 hschir1: 15190O853-151900913 A 14 P123709 entg|SNAPAP refNM 012437 ref Homo sapiens SNAP-associated protein (SNAPAP), mRNA. hschr1: 151901906-151901966 A 14 P123851 entg|ILF2 refNM OO4515 ref Homo sapiens interleukin enhancer binding factor 2, 45 kDa (ILF2), mRNA. hschr1: 151920328-151920380 A 14 P125388 entg|NPR1 refNM 000906 reflomo sapiens natriuretic peptide receptor Aguanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. hs|chr1: 151968127-151968187. A 16 POO166729 entg|INTS3 refNM 023015 reflomo sapiens integrator complex subunit 3 (INTS3), mRNA. hschr1: 152018088-152018140 A 14 P120830 entg|SLC27A3 refNM 024330 ref Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA. hschr1: 152047064-152047124. A 14 P106047 entg|GATAD2B refNM 020699 ref Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA. Schr1: 16799.333-16799.393 A 16 P15040292 entg|NBPF1 refNM 017940 reflomo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. hs|chr1: 171715748-171715808 A 16 POO193532 entg|PRDX6 refNM 004.905 ref Homo sapiens peroxiredoxin 6 (PRDX6), mRNA. hs|chr1: 171736794-171736854. A 16 P35360428 entg|SLC9A11 refNM 178527 ref Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. hs|chr1: 171956212-171956272 A 16 P3536.0836 entg|KLHL20 refNM O14458 ref Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA. hs|chr1: 172039213-172039273 A 16 P35360976 entg|CENPL refNM 033319 reflomo sapiens centromere protein L (CENPL), mRNA. hs|chr1: 172064084-172064144. A 16 POO193883 entg|DARS2 refNM 018122 ref Homo sapiens aspartyl-tRNA synthetase 2, mitochondrial (DARS2), mRNA. hschr1: 172104549-172104,596 A 14 P105924 entg|ZBTB37 refNM 032522 reflomo sapiens Zinc finger and BTB domain containing 37 (ZBTB37), mRNA. hs|chr1: 172139669-172139729 A 16 P35361267 entg|SERPINC1 refNM 000488 reflomo sapiens Serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA. hs|chr1: 172174438-172174498. A 16 P15345792 entg|RC3H1 refNM 172071 reflomo sapiens ring finger and CCCH-type zinc finger domains 1 (RC3H1), mRNA. hs|chr1: 172403349-172403409 A 16 P35361795 entg|RABGAP1L refNM O14857 ref Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA. hs|chr1: 173237005-17323.7065 A 16 P15347942 entg|CACYBP refNM 001007214 reflomo sapiens calcyclin binding re protein (CACYBP), transcript NM 014.412 variant 2 mRNA. hschr1: 173249841-173249901. A 14 P1371.89 entg|MRPS14 refNM 022100 reflomo sapiens mitochondrial ribosomal protein S14 (MRPS14), nuclear gene encoding mitochondrial protein, mRNA. hs|chr1: 173311424–17331 1484. A 16 P15348.134 entg|TNN refNM 022093 ref Homo sapiens tenascin N (TNN), mRNA. US 2012/0053062 A1 Mar. 1, 2012

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C l : 173563.122-173563182 A 16 P3S364331 el re NM OO3285 e Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. S l : 174187052-174187112 A 16 P15350466 el re NM 001001740 Homo sapiens ring finger and re WD repeat domain 2 (RFWD2), NM O224.57 transcript variant 2, mRNA. S l : 1746991.29-174699.188 P121406 el PAPPA2 re NM O21936 e Homo sapiens pappalysin 2 re NM 020318 (PAPPA2), transcript variant 2, RNA. S l : 175097268-175097326 POO1980.75 el ASTN1 re NM 004319 Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, RNA. S l : 175407389-1754O7438 P104389 el FAMSB re NM 021165 Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. S l : 201711813-201711873 P1541.6146 el PRELP re NM 002725 Homo sapiens prolinefarginine re NM 201348 rich end leucine-rich repeat protein (P RELP), transcript variant 1, l RNA. S l : 2O1736742-2017368O2 P15416233 el OPTC re NM O14359 e Homo sapiens opticin (OPTC), l RNA. S l : 2O1872S44-2O1872604 P104923 el ATP2B4 re NM 001001396 e Homo sapiens ATPase, Ca++ re transporting, plasma membrane 4 NM OO1684 (ATP2B4), transcript variant 1, RNA. S l : 2O2OO1149-2O2OO1197 P123051 el LAX1 re NM O17773 Homo sapiens lymphocyte transmembrane adaptor 1 (LAX1), l RNA. S l P1093.05 el re NM O14827 e Homo sapiens Zinc finger CCCH ty pe containing 11A (ZC3H11A), l RNA. S l : 202104164-202104224 P124920 el SNRPE re NM OO3094 e Homo sapiens Small nuclear ribonucleoprotein polypeptide E (SNRPE), mRNA. S l : 20231.6986-202317046 POO236486 el SOX13 re NM 005686 e Homo sapiens SRY (sex determining region Y)-box 13 (S OX13), mRNA. S l : 202368.515-202368575 POO236579 el ETNK2 re NM 018208 e Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA. S l : 2O2395021-2O2395,081 P15417739 el re NM 000537 e Homo sapiens renin (REN), l RNA. S l : 21640254-21.640312 POOO27100 el re NM 032264 e Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), mRNA. S l : 21710313-21710371 POOO27150 el ALPL re NM 000478 Homo sapiens alkaline phosphatase, liverfbone/kidney (ALPL), mRNA. S l P116283 el GAP re NM 002885 e Homo sapiens RAP1 GTPase activating protein (RAP1GAP), RNA. S l : 21879814-21879874 P15052586 el USP48 re NM 032236 Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1 mRNA. S l : 22O15677-22O15726 POOO27573 el LDLRAD2 re NM 001013693 Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA. S l : 22026614-22O26670 A. 6 P15052868 el HSPG2 re NM 005529 Homo sapiens heparan Sulfate proteoglycan 2 (HSPG2), mRNA. S l : 22181194-221812SO A. 4 P119507 el ELA3B re NM OO7352 e Homo sapiens elastase 3B, pancreatic (ELA3B), mRNA. S l : 2220O840-2220O890 A. 6 P1505.3306 el ELA3A re NM OO5747 Homo sapiens elastase 3A, pancreatic (ELA3A), mRNA. S l : 22255558-22255618 A. 4 P135733 el CDC42 re NM 044472 Homo sapiens cell division cycle re NM OO10398O2 42 (GTP binding protein, 25 kDa) re NM OO1791 (CDC42), transcript variant 2, RNA. S l : 266 1SSO1-26615561 POOO33348 el LIN28 re NM O24674 Homo sapiens lin-28 homolog (C. elegans) (LIN28), mRNA. S l : 26.632107-26.632167 P123708 el DHDDS re NM O24887 e Homo sapiens dehydrodolichyl re NM 205861 di phosphate synthase (DHDDS), transcript variant 1, mRNA. S l : 26673244-26673303 P101569 el re NM OO5517 e Homo sapiens high-mobility group nucleosomal binding domain 2 (H MGN2), mRNA. US 2012/0053062 A1 Mar. 1, 2012

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C r1: 26730653-26730710 A 16 POOO33466 el RPS6KA1 refNM OO2953 reflomo sapiens ribosomal protein S6 kinase, 90 kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA. S r1: 26.8992S3-268.993 13 P114927 el ARID1A refNM OO6015| ref Homo sapiens AT rich interactive refNM 1391.35 domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. S r1: 26995.763-269958.23 P138024 el PIGV refNM O17837 ref Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), mRNA. S r1: 27034390-27034450 P15064.276 el ZDHHC18 refNM O32283 reflomo sapiens Zinc finger, DHHC-type containing 18 (ZDHHC18), mRNA. S r1: 27O63474-27063522 P133833 el refNM 006142 ref Homo sapiens stratifin (SFN), mRNA. S r1: 27083378-2708.3438 P132631 el refNM 018066 ref Homo sapiens ATP binding domain 1 family, member B (ATPBD1 B), mRNA. S r1:27090489-27090549 P15064409 el GPATCH3 refNM O22078 reflomo sapiens G patch domain containing 3 (GPATCH3), mRNA. S hir1: 27110544-27110604 P117463 el NROB2 refNM 021969 reflomo sapiens nuclear receptor Subfamily O, group B, member 2 (NROB2), mRNA. S r1: 27124258-27124318 P117899 el NUDC refNM OO6600 reflomo sapiens nuclear distribution gene Chomolog (A. nidians) (NUDC), mRNA. S r1: 27194323-2719.4377 P15064612 el LOC38861 O refNM 001013642 ref Homo sapiens hypothetical LOC388610 (LOC388610), mRNA. S r1: 272O4O91-272O41.51 POOO34O27 el FAM46B refNMO52943 ref Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA. S r1: 27298609-27298668 P101060 el refNM 003047 ref Homo sapiens solute carrier family 9 (Sodiumhydrogen exchanger), member 1 (antiporter, Na+ H+, amiloride sensitive) (SLC9A1), mRNA. S r1: 27435269-2743S329 P350691.18 el WDTC1 refNM O15023 ref Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA. S r1: 37588OS-37588S6 P109063 el KIAAO562 refNM 014704 ref Homo sapiens KIAA0562 (KIAAO562), mRNA. S hir1:3765500-3765559 P106949 el DFFB refNM OO1004285 ref Homo sapiens DNA re fragmentation factor, 40 kDa, beta NM 001004286 polypeptide (caspase-activated refNM 004402 DNase) (DFFB), transcript variant 3, mRNA. S hir1: 50357045-50357 105 P15115282 el ELAVL4 refNM 021952 ref Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)- like 4 (Huantigen D) (ELAVL4), mRNA. S r1: SO685269-50685329 P35122952 el FAF1 refNM 007051 ref Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA. S hir1: 71641786-71641846 P103412 el NEGR1 refNM 173808 reflomo sapiens neuronal growth regulator 1 (NEGR1), mRNA. S r1: 726.0321-726O381 P35O19103 el CAMTA1 refNM O15215 reflomo sapiens calmodulin binding transcription activator 1 (CAMTA1), mRNA. S hir1: 7759362-7759422 el WAMP3 refNM 004781 reflomo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA. S r1: 78858785-78858845 POO102704 el refNM OO6820 ref Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA. S r1: 7888.8581-78888641 A 14 P1396.29 el IFI44 refNM OO6417 ref Homo sapiens interferon-induced protein 44 (IFI44), mRNA. S r2: 10O376586-10O376646 A 16 P15757121 el CHST10 refNM 004854 ref Homo sapiens carbohydrate Sulfotransferase 10 (CHST10), mRNA. S hir2: 100460091-10046O151 A 16 P15757321 el NMS refNM 001011717 ref Homo sapiens neuromedin S (NMS), mRNA. S r2: 100546568-1OOS46628 A 16 POO430789 el PDCL3 refNM 024065 ref Homo sapiens phosducin-like 3 (PDCL3), mRNA. US 2012/0053062 A1 Mar. 1, 2012 10

TABLE 1-continued

Chromosomal Gene Location Sym O Accession Description

S C hir2: OO809955-100810015 15162 el 9. NPAS2 re NM OO2518 ref Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA. S hir2: OO988528-100988586 31949 el RPL31 re NM OOO993 reflomo sapiens ribosomal protein L31 (RPL31), mRNA. S hir2: O6789810-1067898.70 5772616 el ST6GAL2 re NM 032528 ref Homo sapiens ST6 beta galactosamide alpha-2,6- sialyltranferase 2 (ST6GAL2), mRNA. S hir2: 21 696944-121697OO4 36286 el TFCP2L1 re NM 014553 reflomo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA. S hir2: 888059-1888,119 55.29975 el re NM O15025 reflomo sapiens myelin transcription factor 1-like (MYT1L), mRNA. S hir2: 91631669-191631729 5975025 el STAT4 re NM OO3151 reflomo sapiens signal transducer and activator of transcription 4 (STAT4), mRNA. S hir2: 91.822112-191822172 59754.85 el re NM 012223 ref Homo sapiens myosin IB (MYO1 B), mRNA. S hir2: 922S1588-1922S1648 P200716 el re NM OO1031716 ref Homo sapiens oligonucleotidefoligosaccharide binding fold containing 2A (OBFC2A), mRNA. S hir2: 92408323-1924.08383 P15977O68 el SDPR. re NM 004657 reflomo sapiens serum deprivation response (phosphatidylserine binding protein) (SDPR), mRNA. S hir2: 92523146-192S232O6 P136809 el TMEFF2 re NM 016192 reflomo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA. S hir2: 21078979-21079039 POO328924 el APOB re NMOOO384 reflomo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. S hir2: 27853994-27854.054 P125784 el MRPL33 re NM 004891 reflomo sapiens mitochondrial re NM 145330 ribosomal protein L33 (MRPL33), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. S hir2: 278S9923-27859983 POO338681 el re NM 022128 ref Homo sapiens ribokinase (RBKS), mRNA. S hir2: 42692O79-426921.39 POO35995.3 el MTA3 re NM 020744 reflomo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA. S hir2: 42844829-42844874 P119356 el OXER1 re NM 148962 reflomo sapiens Oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA. S hir2: 42849045-428491O1 P13284.5 el HAAO re NM 012205 ref Homo sapiens 3 hydroxyanthranilate 3,4-dioxygenase (HAAO), mRNA. S hir2: 43777975-43778O35 P35656762 el PLEKHH2 re NM 172069 reflomo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA. S hir2: 4385.7495-43857555 P119626 el re NM O15522] reflomo sapiens dynein, re NM 001012665 cytoplasmic 2, light intermediate re NM 016008 chain 1 (DYNC2LI1), transcript variant 2 mRNA. S hir2: 438.93636-438.93696 POO361747 el ABCGS re NM 022436 ref Homo sapiens ATP-binding cassette, Sub-family G (WHITE), member 5 (sterolin 1) (ABCG5), mRNA. S hir2: 43924S57-439246.17 el ABCG8 re NM O22437 ref Homo sapiens ATP-binding cassette, Sub-family G (WHITE), member 8 (sterolin 2) (ABCG8), mRNA. S hir2: 43968439-43968499 P35657379 el LRPPRC re NM 1332.59 ref Homo sapiens leucine-rich PPR motif containing (LRPPRC), mRNA. S hir2: 86693898-86693958 P15735092 el RNF103 re NM O05667 reflomo sapiens ring finger protein 103 (RNF103), mRNA. S hir2: 86810247-8681 0307 POO4228O1 el RMINDSA re NM O22780 ref Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA. S hir2: 86867947-86868OO7 P125558 el re NM OO1768 ref Homo sapiens CD8a molecule re NM 171827 (CD8A), transcript variant 1, mRNA. US 2012/0053062 A1 Mar. 1, 2012

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Symbol Accession Description hschir2: 86895990-86896048 A 16 POO422914 refNM 172101 ref Homo sapiens CD8b molecule refNM 172102 (CD8B), transcript variant 3, mRNA. re NM 172213 hschir2: 88041851-8804-1911 A 16 P15738329 refNM 001024457 ref Homo sapiens RANBP2-like and GRIP domain containing 1 (RGPD1), mRNA. hschir2:95058559-95058619 A 16 P15744725 refNM 002371 ref Homo sapiens mal, T-cell refNM 022438 differentiation protein (MAL), re transcript varianta, mRNA. NM O22439 refNM O22440 hSchr2:95121911-95121971 A 16 P35771780 refNM 03.1902 reflomo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA. scr: 95179627-951796.87 A 16 POO424939 refNM 032788 reflomo sapiens Zinc finger protein 514 (ZNF514), mRNA. scr: 951982O3-95198263 A 14 P139016 refNM 001017396 reflomo sapiens Zinc finger protein re 2 (ZNF2), transcript variant 2, NM 021088 mRNA. scr: 95306707-95306752 A 16 P35772142 entg|PROM2 refNM 144707 reflomo sapiens prominin 2 (PROM2), mRNA. scr: 95328777-95328837 A 16 POO425133 refNM 013434 ref Homo sapiens Kv channel interacting protein 3, callsenilin (KCNIP3), transcript variant 1, mRNA. scr: 954.32576-9S432623 A 16 POO42S280 refNM 016044 ref Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA. hSchr3: 1.OOOO2243-1OOOO2298 A 14 P101043 refNM 080927 ref Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA. Schr3: 112323670-112323730 A 14 P133366 refNM 015480 reflomo sapiens poliovirus receptor-related 3 (PVRL3), mRNA. Schr3: 112743747-112743807 A 14 P124242 refNM 005:816 ref Homo sapiens CD96 molecule refNM 1981.96 (CD96), transcript variant 2, mRNA. hSchr3: 11288,1173-11288.1233 A 16 POO784.860 refNM 153268 ref Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), mRNA. hSchr3: 113O86456-113O86516 A 14 P128736 refNM 145753 reflomo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), mRNA. Schr3: 113183537-113183597 A 16 P1636O3O1 refNM 018394 ref Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA. hSchr3:1132OO641-1132OO695 A 14 P111757 refNM OO10O8272 reflomo sapiens transgelin 3 re (TAGLN3), transcript variant 2, NM 013259 mRNA. Schr3: 1132S1153-1132S1213 A 16 POO785.505 entg|TMPRSS7 refNM OO1042575 reflomo sapiens transmembrane protease, serine 7 (TMPRSS7), mRNA. Schr3: 1255.17341-1255.174O1 A 16 POO802920 refNM OO3947| ref Homo sapiens kalirin, RhoGEF refNM 001024660 kinase (KALRN), transcript variant 2, mRNA. hSchr3: 1259,39142-1259392O2 A 16 P1639.1008 refNM OOO373 ref Homo sapiens uridine monophosphate synthetase (orotate phosphoribosyltransferase and orotidine-5'-decarboxylase) (UMPS), mRNA. hschr3:125964672-125964732 A 14 P101320 refNM 002213 reflomo sapiens integrin, beta 5 (ITGB5), mRNA. hschr3: 135751597-135751657 A 16 P00816629 refNM 001.042383 reflomo sapiens centrosomal ref protein 63 kDa (CEP63), transcript NM 001042384 variant 3, mRNA. refNM 001042400 refNM O2518O hschr3: 135804844-135804904 A 16 PO081.6689 refNM 178554 reflomo sapiens kyphoscoliosis peptidase (KY), mRNA. hschr3: 1360O3065-1360.03125 A 16 P16414472 refNM 004441 ref Homo sapiens EPH receptor B1 (EPHB1), mRNA. US 2012/0053062 A1 Mar. 1, 2012 12

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C 4428173-14428233 A 16 POO652813 el 9. refNM 003043 ref Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), mRNA. S 4S17426-14517486 A 16 P161371.57 el GRIP2 refNM 00108.0423 reflomo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA. S 93.790665-193790725 A 16 P16SSOS31 el FGF12 refNM 004113 ref Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 2, mRNA. S 94.443932-1944,43992 A. 4 el HRASLS refNM 020386 ref Homo sapiens HRAS-like Suppressor (HRASLS), mRNA. S 9447.98SO-194479909 A. 6 P16552220 el ATP13AS refNM 198505 ref Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. S 946O2704-1946O2764 A. 6 P366O1463 el ATP13A4 refNM 032279 ref Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. S 94795530-194795590 A. 4 P1.16641 el OPA1 refNM O15560 reflomo sapiens optic atrophy 1 refNM 130831 (autosomal dominant) (OPA1), re nuclear gene encoding mitochondrial NM 130832| protein, transcript variant 1, mRNA. refNM 130833 refNM 130834|ref NM 130835 refNM 130836 re NM 130837 S 195336705-19533.6765 A 14 P128SO2 el HES1 refNM 005524 reflomo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA. S 195546341-1955.464O1 A 16 POO901315 el CPN2 refNMOO1080513 reflomo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. S 195557831-195557891 A 16 POO901.334 el LRRC15 refNM 130830 reflomo sapiens leucine rich repeat containing 15 (LRRC15), mRNA. S 195597287-195597347 A 14 P108587 el GP5 refNM 004488 reflomo sapiens glycoprotein V (platelet) (GP5), mRNA. S 195790821-195790881 A 16 POO901691 el TMEM44 refNM 001011655 reflomo sapiens transmembrane re protein 44 (TMEM44), transcript NM 138399 variant 2 mRNA. S 19584.4090-1958441SO A 14 P129090 el refNM 018385 reflomo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG 1), mRNA. S 214477.56-21447816 A 16 P161531.67 el refNM O24697 reflomo sapiens Zinc finger protein 659 (ZNF659), mRNA. S 27127777-27127830 A 14 P126966 el NEK10 refNM 001031741 ref Homo sapiens NIMA (never in mitosis genea)-related kinase 10 (NEK10), transcript variant 1, mRNA. S 4627877O-46278830 A 14 P1.16163 el CCR3 refNM OO1837 ref Homo sapiens chemokine (C-C refNM 1783.29 motif) receptor 3 (CCR3), transcript variant 1 mRNA. S 48772265-4.8772325 A 16 P16216781 el PRKAR2A refNM OO4157 reflomo sapiens protein kinase, cAMP-dependent, regulatory, type II, alpha (PRKAR2A), mRNA. S 4886951 4-48869574 A 16 P362S7495 el refNM OOO387 ref Homo sapiens solute carrier family 25 (carnitine acylcarnitine translocase), member 20 (SLC25A20), nuclear gene encoding mitochondrial protein, mRNA. S 4893S287-48935347 A 16 P16217O3S entg ARIH2 refNM OO6321 reflomo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA. S 49008516-49008576 A 16 P36257809 entg PH-4 refNM O17732 reflomo sapiens hypoxia-inducible refNM 177938) factor prolyl 4-hydroxylase (PH-4), re transcript variant 2, mRNA. NM 177939 S 49022098-49022158 A 14 P118004 entg refNM 018031 ref Homo sapiens WD repeat domain 6 (WDR6), mRNA. S 49029949-49029998 A 14 P115373 entg DALRD3 refNM 00100996 ref Homo sapiens DALR anticodon re binding domain containing 3 NM 018114 (DALRD3), transcript variant 1, mRNA. S SOOO394-SOOO453 A 14 P202182 entg refNM OO3670 ref Homo sapiens basic helix-loop helix domain containing, class B, 2 (BHLHB2), mRNA. US 2012/0053062 A1 Mar. 1, 2012 13

TABLE 1-continued Chromosomal Agilent Gene Location Probe ID Symbol Accession Description Schr3: S149509-5149569 A 16 PO0640028 entg|ARL8B refNM 018184. ref Homo sapiens ADP-ribosylation factor-like 8B (ARL8B), mRNA. hSchr3:5211926-5211986 A 16 POO6401 12 entg|EDEM1 refNM 014674 ref Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA. hSchr3: 8769301-8769361 A 16 P16123539 entg|OXTR refNM 000916 reflomo sapiens oxytocin receptor (OXTR), mRNA. hSchr3: 881 18459-881. 18519 A 16 P16314028 entg|HTR1F refNM 000866 ref Homo sapiens 5 hydroxytryptamine (serotonin) receptor 1 F (HTR1F), mRNA. Schr3: 88.971.59-88.97219 A 14 P138767 entg|RAD18 refNM 02O165 ref Homo sapiens RAD18 homolog (S. cerevisiae) (RAD18), mRNA. hSchr3: 9004934-9004994 A 16 P16124045 entg|SRGAP3 refNM 001033116 ref Homo sapiens SLIT-ROBO Rho re GTPase activating protein 3 NM OO1033117 (SRGAP3), transcript variant 3, refNM O14850 mRNA. hSchr3:95O882O4-95O88264 A 14 P2006.71 entg|PROS1 refNM OOO313 ref Homo sapiens protein S (alpha) (PROS1), mRNA. Schr3:95197059–95197119 A 16 P16319812 entg|ARL13B refNM 144996 ref Homo sapiens ADP-ribosylation refNM 182896 factor-like 13B (ARL13B), transcript variant 2 mRNA. Schr3:95263582-95263642 A 14 P1.16171 entg|DHFRL1 refNM 176815 ref Homo sapiens dihydrofolate reductase-like 1 (DHFRL1), mRNA. Schr3:9527O649-9527.0709 A 16 P1632.0001 entg|NSUN3 refNM O22072 ref Homo sapiens NOL1/NOP2/Sun domain family, member 3 (NSUN3), mRNA. hSchr3:99484653-99484713 A 16 POO766758 entg|OR5H2 refNM 001005482 reflomo sapiens olfactory receptor, family 5, Subfamily H, member 2 (OR5H2), mRNA. Schr3:99556147-99SS62O7 A 16 P36372603 entg|ORSK4 refNM 001005517 reflomo sapiens olfactory receptor, family 5, Subfamily K, member 4 (ORSK4), mRNA. Schr3:995928O3-99592863 A 16 POO766854 entg|ORSK3 refNM 001005516 reflomo sapiens olfactory receptor, family 5, Subfamily K, member 3 (ORSK3), mRNA. hSchr3:9972O442-9972O495 A 14 P100635 entg|CLDND1 refNM 001040181 reflomo sapiens claudin domain re containing 1 (CLDND1), transcript NM 001040182 variant 1 mRNA. refNM OO1040183 refNM 001040199 ref NM OO1040200 refNM 019895 hSchr3: 99734089-99734146 A 14 P129559 entg|GPR15 refNM 005290 ref Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA. Schr3:99783227-99783287 A 14 P102812 entg|CPOX refNM OOOO97 ref Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA. hSchr3:99936231-99936,291 A 16 P16330223 entg|ST3GAL6 refNM OO6100 ref Homo sapiens ST3 beta galactoside alpha-2,3- sialyltransferase 6 (ST3GAL6), mRNA. hSchra: 10239.076-102391.36 A 16 P36638427 entg|MIST refNM 052964 reflomo sapiens mast cell immunoreceptor signal transducer (MIST), mRNA. hschr4: 111267618-111267678. A 14 P124325 entg|ELOVL6 refNM 024090 ref Homo sapiens ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3 like, yeast) (ELOVL6), mRNA. hs|chr4: 153517616-153517676 A 16 P16909685 entg|FBXW7 refNM 001013415 ref Homo sapiens F-box and WD re repeat domain containing 7 NM 033632 (FBXW7), transcript variant 3, mRNA. hs|chr4: 153767421-153767481 A 16 PO1108981 entg|TMEM154 refNM 152680 reflomo sapiens transmembrane protein 154 (TMEM154), mRNA. hschira: 153910326-1539.10386 A 14 P106562 entg|TIGD4 refNM 145720 reflomo sapiens tigger transposable element derived 4 (TIGD4), mRNA. hs|chr4: 153924767-153924827 A 16 P16910701 entg|ARFIP1 refNM OO1025593) ref Homo sapiens ADP-ribosylation re factor interacting protein 1 (arfaptin NM 00102.5595 1) (ARFIP1), transcript variant 2, refNM O14447 mRNA. hs|chr4: 154083657-154083717 A 16 PO1109427 entg|KIAA1727 refNM 03.3393 ref Homo sapiens KIAA1727 protein (KIAA1727), mRNA. US 2012/0053062 A1 Mar. 1, 2012 14

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C 66095929-16609.5989 A 16 P1693.9652 el 9. TRIM61 refNM 001012414 ref Homo sapiens tripartite motif. containing 61 (TRIM61), mRNA. S 66175139-1661751.99 A 14 P104097 el TRIM60 refNM 152620 ref Homo sapiens tripartite motif. containing 60 (TRIM60), mRNA. S 662196.38-1662196.98 A 14 P102622 el FLJ38482 refNM 152681 ref Homo sapiens hypothetical protein FLJ38482 (FLJ38482), mRNA. S 66.34928S-16634.934S A 16 P1694.0192 el KLHL2 refNM 007246 ref Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), mRNA. S 66472470-166472S30 A 16 P16940532 el SC4MOL refNM 001017369 ref Homo sapiens sterol-C4-methyl re oxidase-like (SC4MOL), transcript NM OO6745 variant 2 mRNA. S 6652O939-16652O999 A 16 P1694.0635 el CPE refNM OO1873 reflomo sapiens carboxypeptidase E (CPE), mRNA. S 67O14608-16701 4666 A 14 P101657 el TLL1 refNM 012464 ref Homo sapiens tolloid-like 1 (TLL1), mRNA. S 39875242-398753O2 A 16 POO960225 el RHOH refNM 004310 reflomo sapiens rashomolog gene family, member H (RHOH), mRNA. S 400326O1-40032660 A 14 P202451 el CHRNA9 refNM 017581 reflomo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. S 4O130619-4O1306.79 A 16 POO960548 el refNM O19027 ref Homo sapiens RNA-binding protein (FLJ20273), mRNA. S 98.699.087-98.699147 A 14 P138919 el MGC46496 refNM 174952 ref Homo sapiens hypothetical protein MGC46496 (MGC46496), mRNA. S rS: 11998.931S-11998.9375 A 16. PO1322931 el PRR16 refNM 016644 ref Homo sapiens proline rich 16 (PRR16), mRNA. S rS: 121216336-121216396 A 14 P123018 el FTMT refNM 177478 ref Homo sapiens ferritin mitochondrial (FTMT), mRNA. S rS: 121330011-12133OO71 A 14 P114585 el SRFBP1 refNM 152546 reflomo sapiens serum response factor binding protein 1 (SRFBP1), mRNA. S rS: 141217581-141217641 A 16 PO1352316 el PCDH1 refNM 032420 reflomo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. S rS: 141286271-141286.331 A 16 PO1352410 el KIAAO141 refNM 014773 ref Homo sapiens KIAAO141 (KIAAO141), mRNA. S rS: 1413O4698-141304756 A 16 PO1352.447 el PCDH12 refNM O16580 ref Homo sapiens protocadherin 12 (PCDH12), mRNA. S rS: 14133O366-141330426 A 16 P17326902 el RNF14 refNM 183399 reflomo sapiens ring finger protein refNM 004290 14 (RNF14), transcript variant 3, re mRNA. NM 183398 refNM 183400 refNM 1834O1 S rS: 14136O756-141360816 A 14 P110042 el GNPDA1 refNM 005471 reflomo sapiens glucosamine-6- phosphate deaminase 1 (GNPDA1), mRNA. S rS: 1414.69990-14147OOSO A 16 P373.92339 el NDFIP1 refNM O30571 ref Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA. S rS: 36542.12-3654272 A 16 PO1168082 el refNM 024337 reflomo sapiens iroquois homeobox protein 1 (IRX1), mRNA. S rS: 60413758-60413 818 A 16 P17136872 el NDUFA12L refNM 174889 ref Homo sapiens NDUFA12-like (NDUFA12L), mRNA. S rS: 60977230-60977290 A 14 P101450 el FLJ37543 refNM 173667 ref Homo sapiens hypothetical protein FLJ37543 (FLJ37543), mRNA. S rS: 69767947-69768.007 A 16. PO1253504 el LOCA3O394 refNM 001042490 reflomo sapiens general transcription factor IIH, polypeptide 2, 44 kDa-like (LOC730394), mRNA. S rS: 70343856-70343916 A 16 P17159782 el NAIP refNM 004536 ref Homo sapiens NLR family, refNM 022892 apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA. S rS: 982S6993-9825.7053 A 16 PO1293348 el CHD1 refNM OO1270 reflomo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA. S 100.950534-100950594. A 6 PO1542002 el SIM1 refNM 005068 reflomo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. US 2012/0053062 A1 Mar. 1, 2012 15

TABLE 1-continued

Chromosomal Gene Location Sym bol Accession Description

S C O1063899-101.063959 14084 el ASCC3 re NM OO6828 reflomo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA. S 342S4855-1342S4907 34630 el TCF21 re NM OO3206. reflomo sapiens transcription factor re NM 198392 21 (TCF21), transcript variant 2, mRNA. S 34319508-134319568 el TBPL1 re NM 004.865 ref Homo sapiens TBP-like 1 (TBPL1), mRNA. S 343S2222-1343S2282 2998S el SLC2A12 re NM 145176 ref Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA. S 34533694-134533754 11298 el SGK re NM OO5627 ref Homo sapiens serum glucocorticoid regulated kinase (SGK), mRNA. S S44.05824-1544.05884 777.9613 el OPRM1 re reflomo sapiens opioid receptor, re mu 1 (OPRM1), transcript variant NM OO1008505 MOR-1A, mRNA. re NM 000914|ref NM OO1008503 S 168161465-168161525 1928O el KIF2S re NM OO5355 reflomo sapiens kinesin family re NM 030615 member 25 (KIF25), transcript variant 2 mRNA. S 1682O5933-1382O5989 22557 el FRMD1 re NM 024919 ref Homo sapiens FERM domain containing 1 (FRMD1), mRNA. S 168588480-168588540 25.563 el SMOC2 re NM 022138 ref Homo sapiens SPARC related modular calcium binding 2 (SMOC2), mRNA. S 169359278-169359338 P37895.988 el THEBS2 re NMOO3247 ref Homo sapiens thrombospondin2 (THBS2), mRNA. S 1695994.92-169599540 A 14 P1035O2 el WDR27 re NM 182552 ref Homo sapiens WD repeat domain 27 (WDR27), mRNA. S 1698.54024-1698.54084 OS496 el PHF10 re NM 133325 ref Homo sapiens PHD finger protein re NM 018288 10 (PHF10), transcript variant 2, mRNA. S 28377106-28377166 19276 el re NM 032507 reflomo sapiens piggyBac transposable element derived 1 (PGBD1), mRNA. S 284O1449-284O1509 el ZNF323 re NM 145909 reflomo sapiens Zinc finger protein re 323 (ZNF323), transcript variant 2, mRNA. S 284.35225-28.435281 P17490848 el ZKSCAN3 re NM 024493 reflomo sapiens Zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), mRNA. S 28455949-284-56009 P17490896 el ZSCAN12 re NM OO1039643 reflomo sapiens Zinc finger and SCAN domain containing 12 (ZSCAN12), mRNA. S 28579500-28579560 P109089 el GPX6 re NM 1827O1 reflomo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. S 286OS157-28605217 P3756.0577 el GPX5 re NM OO1509 reflomo sapiens glutathione re NM OO3996 peroxidase 5 (epididymal androgen related protein) (GPX5), transcript variant 1 mRNA. S 2865.0448-286SOSO8 P37560676 el ZNF452 re NM 052923 reflomo sapiens Zinc finger protein 452 (ZNF452), mRNA. S 36538525-36538585 PO145809S el re NM 173562 reflomo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA. S 36571.161-36571221 PO1458.155 el STK38 re NM OO7271 ref Homo sapiens serine/threonine kinase 38 (STK38), mRNA. S 3.6671563-36671 623 P11843S el SFRS3 re NM OO3017 reflomo sapiens splicing factor, arginine?serine-rich 3 (SFRS3), mRNA. S 367591.28-3675918O P122468 el re NM 000389. reflomo sapiens cyclin-dependent re NM O78467 kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 1, mRNA. S 36816SO6-36816566 PO1458485 el CPNE5 re NM 020939 ref Homo sapiens copine V (CPNE5), mRNA. S 53795.031-5379.5091 P102227 el LRRC1 re NM 018214 reflomo sapiens leucine rich repeat containing 1 (LRRC1), mRNA. US 2012/0053062 A1 Mar. 1, 2012 16

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C ró: 8362675-836273S A 16. PO1419072 el 9. re NM O15948 e Homo sapiens Solute carrier family 35, member B3 (SLC35B3), RNA. S : 85SO7826-85SO7886 A 14 P113060 el TBX18 re NM 001080508 Homo sapiens T-box 18 BX18), mRNA. S O399.5220 O399.528O A 16 P18053858 el re NM 199000 Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), RNA. S rf: O4444482 O4444542 A 14 P108324 el MLLS re NM 018682 Homo sapiens myeloid lymphoid re NM 182931 mixed-lineage leukemia 5 (triithorax homolog, Drosophila) (MLL5), transcript variant 2, mRNA. S A 16. PO1771211 el SRPK2 re NM 182691 Homo sapiens SFRS protein re NM 182692 kinase 2 (SRPK2), transcript variant 2. mRNA. S 048.95268 O4895328 A 14 P124528 el PUS7 re NM O19042 e Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (P US7), mRNA. S O4964297 O4964357 A 14 P134939 el RINT1 re NM O21930 e Homo sapiens RAD50 interactor 1 (RINT1), mRNA. S OS 188153 OS1882.13 A 14 P101721 el re NM 152749 e Homo sapiens ataxin 7-like 4

S 218820-12 A 16 P17823267 el LOC641901 re NM 001085.389 e Homo sapiens similar to Unc4.1 ho meobox (LOC641901), mRNA. S 26417354 26417414 A 16. PO1802575 el GRM8 re NM OOO845 e Homo sapiens glutamate receptor, metabotropic 8 (GRM8), mRNA. S 2680O830 2680O890 A 16 P18108574 el ZNF800 re NM 176814 e Homo sapiens Zinc finger protein 8O O (ZNF800), mRNA. S 27OO7989 A 14 P118738 el GCC1 re NM O24523 e Homo sapiens GRIP and coiled CO il domain containing 1 (GCC1), l RNA. S 27O17522 27O17582 A 14 P123307 el ARFS re NM OO1662 e Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA. S 27022241 27022301 A 16 PO1803440 el FSCN3 re e Homo sapiens fascin homolog 3, 80 in-bundling protein, testicular (S rongylocentrotus purpuratus) (FSCN3), mRNA. S 27037562 27037622 A 16 PO1803454 el PAX4 re NM O06193 e Homo sapiens paired box gene 4 (PAX4), mRNA. S 27.08.2551 27O82611 A 16. PO18O3523 el SND1 re NM O14390 e Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA. S 447234-1447287 A 16. PO1643415 el MICALL2 re NM 182924 e Homo sapiens MICAL-like 2 re NM O24723 (M CALL2), transcript variant 1, l RNA. S 48.1580-1481,640 A 16 PO1643476 el INTS1 re NM 00108.0453 e Homo sapiens integrator complex Sl bunit 1 (INTS1), mRNA. S 538517-1538574 A 16. PO1643559 el MAFK re NM 002360 e Homo sapiens V-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian) (MAFK), mRNA. S 21435824-21435.884 A 16. PO1671137 el SP4 re NM 003112 e Homo sapiens Sp4 transcription factor (SP4), mRNA. S A 16 P179096.21 el AOAH re NM OO1637 e Homo sapiens acyloxyacyl hy rolase (neutrophil) (AOAH), l RNA. S 3686O481-3686O541 A 14 P137337 el ELMO1 re NM OO1039459 e Homo sapiens engulfment and re Ce motility 1 (ELMO1), transcript NM 130442 variant 3, mRNA. re NM 014800 S 377468SO-377.46908 A 14 P2O1065 el GPR141 re NM 181791 e Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. S 37856729-37856789 A 14 P122270 el TXNDC3 re NM 016616 e Homo sapiens thioredoxin do main containing 3 (spermatozoa) (TXNDC3), mRNA. S 379 12863-3791.2923 A 16 PO1694935 el SFRP4 re NM 003.014 e Homo sapiens secreted frizzled e ated protein 4 (SFRP4), mRNA. S 3793O896-3793.0956 A 16 P17912735 el EPDR1 re NM 017549 e Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), RNA. S 38185166-38185226 A 14 P10O323 el STARD3NL re NM 032016 Homo sapiens STARD3 N terminal like (STARD3NL), mRNA. US 2012/0053062 A1 Mar. 1, 2012 17

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Symbol Accession Description hschirf: 3827O941-38271001 A 16 P17913484 entg|TARP re NM 001003799. reflomo sapiens TCRgamma re alternate reading frame protein NM 0010O3806 (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1 mRNA. S rf: 38390270-38390330 A 14 P103.686 re NM OO1635 reflomo sapiens amphiphysin re NM 139316 (Stiff-Man syndrome with breast cancer 128 kDa autoantigen) (AMPH), transcript variant 1, mRNA. S 3874.5088-3874S148 A 16 P17914729 re NM O14396 reflomo sapiens vacuolar protein re NM 080631 Sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA. S 39012946-39013 OO6 A 14 P135676 re NM 007252 ref Homo sapiens POU domain, class 6, transcription factor 2 (POU6F2), mRNA. S 45627903-45627963 A 16 P1793.1214 re NM 021116 reflomo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. S 458.95604-458.95664 A 14 P113809 re NM 000596. reflomo sapiens insulin-like growth re NM 001013029 factor binding protein 1 (IGFBP1), transcript variant 1, mRNA. S 459 19783-459.19843 A 14 P13S4S1 re NM 000598 reflomo sapiens insulin-like growth re NM 00101.3398 factor binding protein 3 (IGFBP3), transcript variant 2, mRNA. S 47OSO792-47OSO852 P38O15917 entg|LOC641980 re NM 001085413 reflomo sapiens similar to Splicing factor, arginine serine-rich, 46 kD (LOC641980), mRNA. S 472812S2-47281,312 P133390 re NM O22748 ref Homo sapiens tensin 3 (TNS3), mRNA. S 4913284-4913344 PO1648048 re NM 1984.03 reflomo sapiens monocyte to macrophage differentiation associated 2 (MMD2), mRNA. S SO64769-5064.815 P1783.2416 re NM 021163 ref Homo sapiens RB-associated KRAB zinc finger (RBAK), mRNA. S S198919-5198979 P126466 re NM OO1033518 ref Homo sapiens WD repeat re domain, phosphoinositide interacting NM OO1033519 2 (WIPI2), transcript variant 3, re mRNA. re NM 016003 hschirt : S292244-5292289 A 16 P1783.2856 re NM 00104.0661 ref Homo sapiens solute carrier re family 29 (nucleoside transporters), NM 153247 member 4 (SLC29A4), transcript variant 1 mRNA. hschirt : 5327748-5327793 A 16 PO1648366 entg|KIAA1856 re NM 001080495 ref Homo sapiens KIAA1856 protein (KIAA1856), mRNA. hschirt A 14 P107777 re NM 173517 ref Homo sapiens vitamin Kepoxide reductase complex, Subunit 1-like 1 (VKORC1L1), mRNA. hschirt : 65063856-6SO 63916 A 14 P115643 re NM OOO181 reflomo sapiens glucuronidase, beta (GUSB), mRNA. hschirt : 65180525-6S180583 A 14 P139837 re NM 000048 reflomo sapiens argininosuccinate re NM 001024943 lyase (ASL), transcript variant 2, re NM 001024.944 mRNA. re NM 001024.946 hschirt : 65218.120-6521818O A 14 P134347 re NM OO1040647| reflomo sapiens calcitonin gene re related peptide-receptor component NM 001040648 protein (RCP9), transcript variant 2, re NM O14478 mRNA. hschirt : 65309603-653O9663 A 16 P17964545 re NM 003596 ref Homo sapiens tyrosylprotein Sulfotransferase 1 (TPST1), mRNA. hschirt : 696O7566-696O7626 A 16 P1797.4103 re NM O15570 reflomo sapiens autism Susceptibility candidate 2 (AUTS2), mRNA. hschirt : 74993702-74.993.762 A 16. PO17312O2 re NM 001003686. reflomo sapiens postmeiotic re segregation increased 2-like 3 NM 005395 (PMS2L3), transcript variant 2, mRNA. hschirt : 75009097-75OO9157 A 16 P17984818 re NM 005338 reflomo sapiens huntingtin interacting protein 1 (HIP1), mRNA. US 2012/0053062 A1 Mar. 1, 2012 18

TABLE 1-continued

Chromosomal Agi ent Gene Location Probe ID Sym bol Accession Description

S C 81182482-81182542 A 16 P38O831.10 enlig re NM OOO601| e Homo sapiens hepatocyte growth re NM 001010932 fac or (hepapoietin A; Scatter factor) (H GF), transcript variant 1, mRNA. S 81417401-81417461 P137334 enlig CACNA2D1 re NM 000722 e Homo sapiens calcium channel, WO Itage-dependent, alpha 2. delta Sl bunit 1 (CACNA2D1), mRNA. S 8493301-8493.361 enlig NXPH1 re NM 152745 e Homo sapiens neurexophilin 1 (NXPH1), mRNA. S 8823O877-8823.0937 P18O17265 enlig re NM 181646 Homo sapiens Zinc finger protein 4B (ZNF804B), mRNA. S 97321.804-97321855 P115594 enlig ASNS re NM 133436 Homo sapiens asparagine re NM 183356. synthetase (ASNS), transcript variant re 1, mRNA. NM OO1673 S 97578588-97578648 A. 6 P18039072 enlig LMTK2 re NM O14916 e Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA. S 97.690642-97.690702 A. 4 P138217 enlig re NM O15395 e Homo sapiens DKFZP434B0335 protein (DKFZP434B0335), mRNA. S 97758070-97758130 A. 4 P109732 enlig BRI3 re NM O15379 Homo sapiens brain protein I3 RI3), mRNA. S 97763508-97763568 A. 6 PO1763010 enlig BAIAP2L1 re NM 018842 Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), l RNA. S 98O89446-98O89506 P2O1599 enlig re NM OO2523 e Homo sapiens neuronal pentraxin II (NPTX2), mRNA. S O463O8-1046368 P1131.38 enlig DMRT2 re NM OO6557 e Homo sapiens doublesex and re NM 181872 mab-3 related transcription factor 2 (DMRT2), transcript variant 1, l RNA. S S680996 5681.056 P117997 entg re NM 133374 e Homo sapiens Zinc finger protein 61 8 (ZNF618), mRNA. S S862209-115862269 PO21621 O7 enlig AMBP re NM OO1633 e Homo sapiens alpha-1- microglobulinibikunin precursor (AMBP), mRNA. S S898961-115899014 P103846 enlig KIF12 re NM 138424 e Homo sapiens kinesin family member 12 (KIF12), mRNA. S 596,5465-115965525 PO2162268 enlig COL27A1 re NM 032888 e Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), RNA. S 6126.104-116126155 PO2162547 enlig ORM1 re NM OOO607 Homo sapiens orosomucoid 1 (ORM1), mRNA. S 61.32838-1161.32892 P128743 enlig ORM2 re NM OOO608 e Homo sapiens orosomucoid 2 (ORM2), mRNA. S 6138266-116138326 PO2162555 enlig AKNA re NM 030767 e Homo sapiens AT-hook transcription factor (AKNA), RNA. S 621 O239-116210299 P18745720 enlig DFNB31 re NM 001083885| Homo sapiens deafness, re 8. osomal recessive 31 (DFNB31), NM 015404 transcript variant 2, mRNA. S 639S422-11639S482 P114363 enlig re NM 004.888 e Homo sapiens ATPase, H+ transporting, lysosomal 13 kDa, V1 Sl bunit G1 (ATP6V1G1), mRNA. S 22190961-1221.91021 enlig re NM 001011649 e Homo sapiens CDK5 regulatory re Sl bunit associated protein 2 NM 018249 (C DK5RAP2), transcript variant 2, l RNA. S 22SO8427-1225.08487 enlig MEGF9 re NM 001080497 e Homo sapiens multiple EGF-like do mains 9 (MEGF9), mRNA. S 22563721-122563781 P38863564 enlig re NM 012164 e Homo sapiens F-box and WD repeat domain containing 2 (F BXW2), mRNA. S 22618558-1226,186.18 P102384 enlig PSMD5 re NM 005047 e Homo sapiens proteasome (prosome, macropain) 26S subunit, O n-ATPase, 5 (PSMD5), mRNA. S 22657730-122657790 P38863797 enlig PHF19 re NM O15651 e Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, l RNA. S 22714143-1227142O3 P138468 enlig TRAF1 re NM OO5658 e Homo sapiens TNF receptor associated factor 1 (TRAF1), RNA. S 22755812-122755872 P1.16555 enlig re NM OO1735 Homo sapiens complement component 5 (C5), mRNA. US 2012/0053062 A1 Mar. 1, 2012 19

TABLE 1-continued Chromosomal Agilent Gene Location Probe ID Symbol Accession Description hs|chrs: 122892410-122892470 A 16 P02172604 entg|CEP110 refNM OO7018 reflomo sapiens centrosomal protein 110 kDa (CEP110), mRNA. hs|chrs: 12298 1254-12298.1314. A 16 P38864720 entg|RAB14 refNM 016322 ref Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA. hs|chrs: 123079770-123079830 A 16 P02172892 entg|GSN refNM 198252 reflomo sapiens gelsolin (amyloidosis, Finnish type) (GSN), transcript variant 2, mRNA. hschr9:123146242-123146302 A 14 P103.990 entg|STOM refNM 004.099 ref Homo sapiens stomatin (STOM), refNM 1981.94 transcript variant 1, mRNA. hSchr: 12688541-12688.598 A 14 P101680 entg|TYRP1 refNM 000550 reflomo sapiens tyrosinase-related protein 1 (TYRP1), mRNA. hSch: 13096805-13096865 A 14 P102069 entg|MPDZ refNM 003829 ref Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. hschr9:133126723-133126775 A 14 P129649 entg|FAM78A refNM 03.3387 ref Homo sapiens family with sequence similarity 78, member A (FAM78A), mRNA. hs|chrs: 133158121-133158181. A 16 P02186691 entg|PPAPDC3 refNM 032728 reflomo sapiens phosphatidic acid phosphatase type 2 domain containing 3 (PPAPDC3), mRNA. hschirg: 133371617-133371677 A 14 P1.14470 entg|POMT1 refNM 001077365 ref Homo sapiens protein-O- re mannosyltransferase 1 (POMT1), NM 001077366 transcript variant 2, mRNA. refNM 007171 hschr9:133391218-133391273 A 14 P1061.83 entg|UCK1 refNM 031432 reflomo sapiens uridine-cytidine kinase 1 (UCK1), mRNA. hschr9:133443193-133443253 A 14 P118711 entg|RAPGEF1 refNM 198679 reflomo sapiens Rap guanine refNM OO5312 nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA. hSchr: 19040854-1904O914 A 14 P102520 entg|RRAGA refNM OO6570 ref Homo sapiens Ras-related GTP binding A (RRAGA), mRNA. scrg: 19047617-19047677 A 14 P110216 entg|FAM29A refNM O17645 ref Homo sapiens family with sequence similarity 29, member A (FAM29A), mRNA. hSchr: 19105742-191058O2 A 16 P02072427 entg|ADFP refNM 001122 reflomo sapiens adipose differentiation-related protein (ADFP), mRNA. hSchir: 32456249-32456.309 A 16 P18602496 entg|DDX58 refNM O14314 ref Homo sapiens DEAD (Asp-Glu Ala-Asp) box polypeptide 58 (DDX58), mRNA. hSchir: 32534143-325342O3 A 16 P38700163 entg|TOPORS refNM OO58O2 reflomo sapiens topoisomerase I binding, arginine?serine-rich (TOPORS), mRNA. hSchir: 32548886-3254.8946 A 14 P135984 entg|NDUFB6 refNM 002493 ref Homo sapiens NADH refNM 182739 dehydrogenase (ubiquinone) 1 beta Subcomplex, 6, 17 kDa (NDUFB6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. hSchir: 32623069-32623127 A 14 P108455 entg|TAF1L refNM 1538.09 ref Homo sapiens TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210 kDa (TAF1L), mRNA. hSchr): 34456212-34456272 A 16 P02093220 entg|DNAI1 refNM 012144 reflomo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA. hSchr): 34546559-34546619 A 16 P02093356 entg|CNTFR refNM 001842 reflomo sapiens ciliary refNM 147164 neurotrophic factor receptor (CNTFR), transcript variant 2, mRNA. hSchr): 346040 A 14 P119846 entg|DCTN3 refNM OO7234 ref Homo sapiens dynactin 3 (p22) refNM 024348 (DCTN3), transcript variant 1, mRNA. scr: S289936-528.9996 A 14 P1.16102 entg|RLN2 refNM O05059. ref Homo sapiens relaxin 2 (RLN2), refNM 134441 transcript variant 2, mRNA. hSchr): 5325O64-5325 124 A 14 P114773 entg|RLN1 refNM OO6911 ref Homo sapiens relaxin 1 (RLN1), mRNA. hSchr): 5442455-54.425.15 A 16 P02052226 entg|CD274 refNM 014143 ref Homo sapiens CD274 molecule (CD274), mRNA. scr: SSOO694-SSOO754 A 14 P111176 entg|PDCD1 LG2 refNM O25239 reflomo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA. US 2012/0053062 A1 Mar. 1, 2012 20

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C 5647673-5647733 P18538.540 el 9. KIAA1432 refNM 020829 ref Homo sapiens KIAA1432 (KIAA1432), mRNA. S 5775790-5775850 PO2O52628 el KIAA1815 refNM 024896 ref Homo sapiens KIAA1815 (KIAA1815), mRNA. S P386.35796 el MLANA refNM OO5511 reflomo sapiens melan-A (MLANA), mRNA. S S909394-59094.54 P386.35860 el KIAA2O26 refNM 001017969 ref Homo sapiens KIAA2026 (KIAA2026), mRNA. S PO2O52992 el RANBP6 refNM 012416 ref Homo sapiens RAN binding protein 6 (RANBP6), mRNA. S 744.66388-74466448 P38747153 el TMC1 refNM 138691 reflomo sapiens transmembrane channel-like 1 (TMC1), mRNA. S 74714433-74714493 el ALDH1A1 refNM 000689 ref Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA. S 847951.45-847952OO P109470 el RASEF refNM 152573 ref Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA. S 95266909-95266969 PO2134O13 el FAM120A refNM 014612 ref Homo sapiens family with sequence similarity 120A (FAM120A), mRNA. S 95380.940-95381OOO PO2134237 el PHF2 refNM O05392 ref Homo sapiens PHD finger protein 2 (PHF2), mRNA. S 95.754117-95754.177 P128493 el BARX1 refNM 021570 ref Homo sapiens BarH-like homeobox 1 (BARX1), mRNA. S 973203-973.263 P115828 el DMRT3 refNM 021240 ref Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA. S l O: 108327011-108327071 P111028 el SORCS1 refNM 001013031 ref Homo sapiens sortilin-related re VPS10 domain containing receptor 1 NM 052918 (SORCS1), transcript variant 2, mRNA. S l : 724881O-7248870 el refNM 001029880 ref Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), mRNA. S l : 806.38633-80638693 PO230O882 el ZMIZ1 refNM 020338 ref Homo sapiens Zinc finger, MIZ type containing 1 (ZMIZ1), mRNA. S l : 80.779982-80780O39 P131576 el PPIF refNM OO5729 ref Homo sapiens peptidylprolyl isomerase F (cyclophilin F) (PPIF), nuclear gene encoding mitochondrial protein, mRNA. S l : 80813618-80813678 P39101109 el C10orf56 refNM 153367 ref Homo sapiens chromosome 10 open reading frame 56 (C10orf56), mRNA. S l : 81.687480-81.687531 P1396.42 el SFTPD refNM 003019 reflomo sapiens Surfactant, pulmonary-associated protein D (SFTPD), mRNA. S l : 81.885475-81.885.53S PO23O1616 el PLAC9 refNM 001012973 reflomo sapiens placenta-specific 9 (PLAC9), mRNA. S l : 81915876-81915.936 P39.103644 el ANXA11 refNM 001157 reflomo sapiens annexin A11 refNM 145868 (ANXA11), transcript varianta, re mRNA. NM 145869 S l : 82O21610-82O21670 P39.103937 el MAT1A refNM 000429 reflomo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA. S l : 82109832-82109885 A. 4 P1.16526 el DYDC2 refNM 032372 ref Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA. S l : 8221 1903-8221 1963 A. 6 P1899.4582 el TSPAN14 refNM 030927 reflomo sapiens tetraspanin 14 (TSPAN14), mRNA. S l : 4OO94O67-40094127 A. 6 PO2433770 el refNM 020929 reflomo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. S l : 4060785-4060845 A. 6 P19134535 el STIM1 refNM OO3156 reflomo sapiens stromal interaction molecule 1 (STIM1), mRNA. S l : 408,3821-4.083881 A. 4 P117324 el RRM1 refNM OO1033 ref Homo sapiens ribonucleotide reductase M1 polypeptide (RRM1), mRNA. S l : 4362794-4362854 el TRIM21 refNM 003141 ref Homo sapiens tripartite motif. containing 21 (TRIM21), mRNA. S l : 45 64618-4564678 PO2383,787 el refNM 001005170 reflnomo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. S l : 458O158-458O214 P132863 el TRIM68 refNM 018073 ref Homo sapiens tripartite motif. containing 68 (TRIM68), mRNA. US 2012/0053062 A1 Mar. 1, 2012 21

TABLE 1-continued

Chromosomal Agi ent Gene Location Probe ID Sym bol Accession Description

S C l : 4631306–4631366 A. 4 P121111 el re NM 152430 e Homo sapiens olfactory receptor, family 51, subfamily E, member 1 E1), mRNA. S l : 48OO123-48OO183 PO2384155 el re NM OO1004753 e Homo sapiens olfactory receptor, family 51, subfamily F, member 2 F2), mRNA. S l : 4826O70-4826130 P39251.123 el ORS1 S1 re NM OO1004758 e Homo sapiens olfactory receptor, family 51, subfamily S, member 1 S1), mRNA. S l : 4892.946-4893OO6 PO23843O1 el ORS1G2 re NM 001005238 e Homo sapiens olfactory receptor, family 51, subfamily G, member 2 G2), mRNA. S l : 4967429-4967485 el MMP26 re NM O218O1 e Homo sapiens matrix (8. opeptidase 26 (MMP26), l RNA. S l : 4977379-4977439 P191366O1 el ORS1L1 re NM OO1004755 e Homo sapiens olfactory receptor, amily 51, subfamily L, member 1 (OR5 L1), mRNA. S l : SO2432S-SO24385 PO2384493 el ORS23 re NM 001001916 Homo sapiens olfactory receptor, amily 52, subfamily J, member 3 (OR52J3), mRNA. S l : 72784.964-7278.5022 el TNFRSF19L. re NM 152222 Homo sapiens tumor necrosis re NM 032871 actor receptor Superfamily, member -like (TNFRSF19L), transcript variant 2 mRNA. S l : 728O3772-728O3832 PO24687OS el KIAAO28O re NM 0151.59 e Homo sapiens KIAA0280 (KIAAO280), mRNA. S l P112326 el PLEKHB1 re NM 021200 Homo sapiens pleckstrin mology domain containing, family (evectins) member 1 (PLEKHB1), RNA. S l : 73068322-73068.382 P11.2013 el re NM 002869| e Homo sapiens RAB6A, member re NM 198896 RAS oncogene family (RAB6A), transcript variant 1, mRNA. S l : 73177046-73177106 el MRPL48 re NM 016055 Homo sapiens mitochondrial ribosomal protein L48 (MRPL48), nuclear gene enco ing mitochondrial protein, mRNA. S l : 837O101-837O161 P104176 el STK33 re NM 030906 Homo sapiens serine threonine kinase 33 (STK33), mRNA. S l : 86.632SO-8663310 el RPL27A re NM OOO990 Homo sapiens ribosomal protein L27a (RPL27A), mRNA. S l : 8671715-8671775 P114318 el STS re NM 213618 Homo sapiens Suppression of re NM 139157 tumorigenicity 5 (ST5), transcript re variant 3, mRNA. NM 005418 S l 6961616-116961676 P19698.214 el WSB2 re NM 018639 e Homo sapiens WD repeat and SOCS box-containing 2 (WSB2), RNA. S l 6987912-11698.7972 P121974 el re NM O19086 Homo sapiens hypothetical protein FLJ20674 (FLJ20674), RNA. S l 7O6621O-117O66270 P135050 el PEBP1 re NM OO2567 Homo sapiens phosphatidylethanolamine binding protein 1 (PEBP1), mRNA. S l 7074739-117074791 P102661 el TAOK3 re NM 016281 e Homo sapiens TAOkinase 3 (TAOK3), mRNA. S l 730518O-1173OS240 P19698.995 el SUDS3 re NM 022491 e Homo sapiens Suppressor of de fective silencing 3 homolog (S. cerevisiae) (S UDS3), mRNA. S l 7913638-117913698 el KIAA1853 re NM 194286 e Homo sapiens KIAA1853 (KIAA1853), mRNA. S l 8104106-118104166 el HSPB8 re NM O14365 e Homo sapiens heat shock 22 kDa protein 8 (HSPB8), mRNA. S l 8257097-118257157 el CCDC60 re NM 178499 e Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. S l 3824676-13824736 A P194634.89 el GRIN2B re NM 000834 e Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. S l 8729777-18729832 A P131918 el PLCZ1 re NM 03.3123 e Homo sapiens phospholipase C, Ze a 1 (PLCZ1), mRNA. US 2012/0053062 A1 Mar. 1, 2012 22

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Symbol Accession Description

Schr12: 1878.3301-1878.3361 A 14 P133697 re NM 033328 reflomo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. hschr12: 1917S789-1917.5849 A 14 re NM O19012 reflomo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), mRNA. hschr12: 2449246-2449306 P19436966 re NM 000719 reflomo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), mRNA. hschr12: 2776792-2776852 P109319 re NM 002014 ref Homo sapiens FK506 binding protein 4, 59 kDa (FKBP4), mRNA. hschr12: 2795.003-2795063 P138527 re NM 018463 ref Homo sapiens integrin alpha FG GAP repeat containing 2 (ITFG2), mRNA. hschr12: 2807919-2807979 P126511 re NM 031474 reflomo sapiens nuclear receptor interacting protein 2 (NRIP2), mRNA. hschr12: 2837382-2837442 PO2559502 re NM O21953 ref Homo sapiens forkhead box M1 re NM 202002 (FOXM1), transcript variant 2, re mRNA. NM 202003 hschr12: 28.74871-287.4931 PO2559551 re NM OO3324 ref Homo sapiens tubby like protein 3 (TULP3), mRNA. hschr12: 294OSS2-294O612 PO2559631 re NM OO3213| ref Homo sapiens TEA domain re NM 201441 family member 4 (TEAD4), re transcript variant 1, mRNA. NM 201443 hschr12: 334-19670-334.1973O P19509071 re NM 1989.92 reflomo sapiens synaptotagmin X (SYT10), mRNA. hschr12: 48383961-48384O21 PO26174O1 re NM 175736. ref Homo sapiens formin-like 3 re NM 198900 (FMNL3), transcript variant 1, mRNA. hschr12: 48432549-48432.609 P1381.38 re NM O03217 reflomo sapiens testis enhanced gene transcript (BAX inhibitor 1) (TEGT), mRNA. hschr12: 484.84284-484.84343 PO2617498 entg|LOC283331 re NM OO1037806 ref Homo sapiens hypothetical protein LOC283331 (LOC283331), mRNA. hschr12: 4852O124-48520184 P127523 re NM 181708 ref Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA. hschr12: 48548907-4854896.7 PO2617570 re NM 012306 reflomo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA. hschr12: 486.37051-486371.11 P122083 re NM 000486 reflomo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA. hschr12: 486566SO-486567OO P115654 re NM OO1652 reflomo sapiens aquaporin 6, kidney specific (AQP6), mRNA. hschr12: 48677.046-48677104 P1953.8589 entg|RACGAP1 re NM 013277 ref Homo sapiens Rac GTPase activating protein 1 (RACGAP1), mRNA. hschr12: 48739098-48739147 PO2617871 re NM 001095| ref Homo sapiens amiloride-sensitive re NM 020039 cation channel 2, neuronal (ACCN2), transcript variant 2, mRNA. hschr12: 48766640-487667OO P118.192 entg|SMARCD1 re NM 003076 ref Homo sapiens SWI/SNF related, re NM 139071 matrix associated, actin dependent regulator of chromatin, Subfamily d, member 1 (SMARCD1), transcript variant 1 mRNA. hschr12 : 48.787349-48.7874.09 A 14 P135604 re NM OO5276 reflomo sapiens glycerol-3- phosphate dehydrogenase 1 (Soluble) (GPD1), mRNA. hschr12 : 48810433-488.10493 A 14 P128293 re NM 147190 reflomo sapiens LAG1 homolog, ceramide synthase 5 (S. cerevisiae) (LASS5), mRNA. hschr12 : 488.56779-4.8856839 A 14 P100531 entg|LIMA1 re NM 016357 ref Homo sapiens LIM domain and actin binding 1 (LIMA1), mRNA. hschr12 : 57554140-57554200 A 14 P201282 re NM 153377 reflomo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), mRNA. hschr12 : 68.933447-68.933507 A 14 P139238 re NM 014515 ref Homo sapiens CCR4-NOT transcription complex, Subunit 2 (CNOT2), mRNA. US 2012/0053062 A1 Mar. 1, 2012 23

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C l 2: 69047969-69048O29 A 14 P103659 el 9. KCNMB4 re NM 014505 e Homo sapiens potassium large conductance calcium-activated ch annel, Subfamily M, beta member 4 (KCNMB4), mRNA. S l 2: 692O4S1.9-69204579 PO2645741 el PTPRB re NM 002837 Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), mRNA. S l 2: 693.18739-6931.8799 P128178 el PTPRR re NM 130846 Homo sapiens protein tyrosine re NM 002849 phosphatase, receptor type, R (PTPRR), transcript variant 2, l RNA. S l P19587963 el TSPAN8 re NM 004616 e Homo sapiens tetraspanin 8 (T SPAN8), mRNA. S l 2: 7773440-7773500 PO2S66432 el CLEC4C re NM 130441 e Homo sapiens C-type lectin re NM 203503 do main family 4, member C (C LEC4C), transcript variant 1, l RNA. S l 2: 78.37177-783,7237 P123398 el NANOG re NM O24865 e Homo sapiens Nanog homeobox (NANOG), mRNA. S l P39576369 el SLC2A14 re NM 153449 e Homo sapiens Solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), RNA. S l 2: 7963158-79632O8 P129931 el re NM OO6931 Homo sapiens Solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), RNA. S l 2: 8084969-8085029 P1945O362 el FOXJ2 re NM 018416 Homo sapiens forkhead box J2 (FOXJ2), mRNA. S l 2: 81.29279-8129339 P119437 el NECAP1 re NM O15509 e Homo sapiens NECAP el ocytosis associated 1 (NECAP1), l RNA. S l 2: 8173176-8173236 P101.395 el CLEC4A re NM 016184. e Homo sapiens C-type lectin re NM 194447 do main family 4, member A re (C LEC4A), transcript variant 1, NM 194448 l RNA. re NM 194450 S l 2: 87414961-8741.5021 A 14 P107977 el KITLG re NM OOO899 e Homo sapiens KIT ligand re NM OO3994 (KITLG), transcript variant b, RNA. S l 3: 111773394-111773454. A 14 P110385 el SOX1 re NM OO5986 Homo sapiens SRY (sex determining region Y)-box 1 (SOX1), mRNA. S l 3: 2424.6993-24247OS3 A 16 PO2739242 el RNF17 re NM 031277 e Homo sapiens ring finger protein 17 (RNF17), mRNA. S l 3: 24356587-24356647 P39886291 el CENPJ re NM 018451 e Homo sapiens centromere protein J ( CENPJ), mRNA. S l 3: 24641.061-24641121 P104159 el FAM123A re NM 152704 e Homo sapiens family with re NM 199138 sequence similarity 123A (FAM123A), transcript variant 1, l RNA. S l 3: 24718602-24718662 P19749709 el MTMR6 re NM 004685 e Homo sapiens myotubularin e ated protein 6 (MTMR6), mRNA. S l 3:24774961-2477SO21 P39887322 el NUPL1 re e Homo sapiens nucleoporin like 1 re (NUPL1), transcript variant 3, NM 0010O8564 RNA. re NM 014089 S l 3: 2485.1253-24.851313 el re NM O16529 e Homo sapiens ATPase, aminophospholipid transporter-like, ass I, type 8A, member 2 (ATP8A2), mRNA. S l 3: 31893609-31893669 PO2750271 el CGO18 re NM 001079691| e Homo sapiens hypothetical gene re CG018 (CG018), transcript variant NM 052818 2. mRNA. S l 3:31990O96-319901S6 P39905438 el PFAAP5 re NM O14887 e Homo sapiens phosphonoformate immuno-associated protein 5 (P FAAP5), mRNA. S l 3: 40602940-40602995 P1211.63 el KBTBD6 re NM 152903 e Homo sapiens kelch repeat and BT B (POZ) domain containing 6 (KBTBD6), mRNA. S l 3:44.657420-4465748O PO2769040 el re NM 004128 Homo sapiens general transcription factor IIF, polypeptide 2 (30 kD subunit) (GTF2F2), mRNA. US 2012/0053062 A1 Mar. 1, 2012 24

TABLE 1-continued

Chromosomal Agi ent Gene Location Probe ID Sym bol Accession Description

S C l 3:44810878-44810938 A. 4 P139052 el TPT1 re NM OO3295 reflomo sapiens tumor protein, translationally-controlled 1 (TPT1), mRNA. S l 3:448764.58-44876518 PO2769366 el SLC25A30 re NM 001010875 ref Homo sapiens solute carrier family 25, member 30 (SLC25A30), mRNA. S l 3:44.946064-44946 124 PO2769452 el COG3 re NM 031431 reflomo sapiens component of oligomeric golgi complex 3 (COG3), mRNA. S l 3: 45175772-45175831 P104243 el SPERT re NM 152719 reflomo sapiens spermatid associated (SPERT), mRNA. S l 3:452S6466-452S6523 P19800028 el LOC283514 re NM 198849 reflomo sapiens similar to seven in absentia 2 (LOC283514), mRNA. S l 3:45.434467-4S434527 P198OOSO8 el re NM O15070 ref Homo sapiens Zinc finger CCCH type containing 13 (ZC3H13), mRNA. S l 3: 60881928-60881988 el PCDH2O re NM 022843 ref Homo sapiens protocadherin 20 (PCDH2O), mRNA. S l 3: 73.1608SO-73160910 P126532 el KLF12 re NM OO7249 ref Homo sapiens Kruppel-like factor 12 (KLF12), mRNA. S l 3: 93347774-93.347834 P1991S260 el GPC6 re NM 005708 reflomo sapiens glypican 6 (GPC6), mRNA. S l 4: 18624382-18624442 PO2870240 el ACTBL1 re NM 001005356 ref Homo sapiens ACTBL1 protein (ACTBL1), transcript variant POTE 14A, mRNA. S l 4: 41151632-41.151692 P20021229 el re NM 152447 reflomo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA. S l 4:51037524-51037584 P4O185330 el FRMD6 re NM 001042481 ref Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 1 mRNA. S l 4: S1402028-51402088 P20043525 el GNG2 re NM O53064 reflomo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), mRNA. S l 4: S180981-8-51809878 P102113 el PTGDR re NM OOO953 reflomo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA. S l 4: S1852S45-518526OS el PTGER2 re NM OOO956 reflomo sapiens prostaglandin E receptor 2 (subtype EP2), 53 kDa (PTGER2), mRNA. S l 4:51967479-51967S39 P118876 el KIAA1344 re NM 020784 ref Homo sapiens KIAA1344 (KIAA1344), mRNA. S l 4:52.178964-52179024 P139028 el ERO1L, re NM 014584 ref Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA. S l 4:52247459-52247519 el PSMC6 re NM 002806 reflomo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 6 (PSMC6), mRNA. S l 4:52269683-52269743 P20045531 el STYX re NM 145251 ref Homo sapiens serine/threoninetyrosine interacting protein (STYX), mRNA. S l 4:52315755-52315815 P112387 el GNPNAT1 re NM 198066 reflomo sapiens glucosamine phosphate N-acetyltransferase 1 (GNPNAT1), mRNA. S l 4:52395987-52396O47 P114129 el PLEKHC1 re NM OO6832 reflomo sapiens pleckstrin homology domain containing, family C (with FERM domain) member 1 (PLEKHC1), mRNA. S l 4:52582809-52S82869 P20046268 el DDHD1 re NM 030637 ref Homo sapiens DDHD domain containing 1 (DDHD1), mRNA. S l 4: 69909230-69909290 P20087518 el re NM 018373 reflomo sapiens synaptoanin 2 binding protein (SYNJ2BP), mRNA. S l 4: 69996O10-69996069 P137791 el ADAM21 re NM OO3813 ref Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. S l 4: 70060228-70060288 P133878 el ADAM2O re NM 003814 ref Homo sapiens ADAM metallopeptidase domain 20 (ADAM2O), mRNA. S l 4: 701.21389-70121449 el MED6 re NM OO5466 ref Homo sapiens mediator of RNA polymerase II transcription, Subunit 6 homolog (S. cerevisiae) (MED6), mRNA. S l 4:702661.11-70266171 PO2940090 el MAP3K9 re NM 033141 reflomo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. US 2012/0053062 A1 Mar. 1, 2012 25

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C l 4: 70445875-70445935 P4O232863 el PCNX re NM O14982 e Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. S l 4:902S1952-902S2012 PO2969763 el re NM 001010854 e Homo sapiens tetratricopeptide e eat domain 7B (TTC7B), mRNA. S l P2O1381.58 el RPS6KAS re NM OO4755 e Homo sapiens ribosomal protein kinase, 90 kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA. S l 5 : 18864.581-18864641 P2O178423 el LOC283.755 re NM 001024682 e Homo sapiens hypothetical protein LOC283755 (LOC283.755), mRNA. S l 5 : 301.13327-301.13387 P111224 el CHRNA7 re NM OOO746 e Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), mRNA. S l O141332-1O141391 P2O3991.97 el GRIN2A re NM 000833 e Homo sapiens glutamate receptor, ion otropic, N-methyl D-aspartate 2A (GRIN2A), mRNA. S l 8701946-18702006 P1.16370 el RPS1SA re NM 001019 Homo sapiens ribosomal protein re NM OO1030009 S15a (RPS15A), transcript variant 2, mRNA. S l 871.4369-18714.429 P1285.47 el re NM 0151.61 e Homo sapiens ADP-ribosylation fac or-like 6 interacting protein 1 (ARL6IP1), mRNA. S l 8724679-18724739 P2O418428 el SMG1 re NM O15092 e Homo sapiens PI-3-kinase-related kin ase SMG-1 (SMG1), mRNA. S l 89.03692-18903751 P132624 el TMC7 re NM 024847 e Homo sapiens transmembrane channel-like 7 (TMC7), mRNA. S l 8988533-18988593 P100700 el COQ7 re NM O16138 e Homo sapiens coenzyme Q7 homolog, ubiquinone (yeast) (COQ7), mRNA. S l 902697-19027SO PO3102699 el re NM 001009606 e Homo sapiens heparan Sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA. S l 904O117-1904O177 P2O419106 el LOC162O73 re NM 001034841 e Homo sapiens hypothetical protein LOC162073 (LOC162073), mRNA. S l 9092408-19092468 A. 6 P40576766 el SYT17 re NM O16524 e Homo sapiens synaptotagmin XVII (SYT17), mRNA. S l 928263-1928318 A. 4 34786 el SEPX1 re NM 016332 e Homo sapiens selenoprotein X, 1 (SEPX1), mRNA. S l 93.5020-1935070 A. 6 el RPL3L re NM 005061 Homo sapiens ribosomal protein like (RPL3L), mRNA. S l 951481-1951536 A. 4 el NDUFB10 re NM 004548 Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta Subcomplex, 10, 22 kDa (NDUFB10), mRNA. S l 953238-1953.298 el RPS2 re NM OO2952 Homo sapiens ribosomal protein (RPS2), mRNA. S l 957 723-1957772 el RNF151 re NM 174903 Homo sapiens ring finger protein 15 (RNF151), mRNA. S l 966786-1966831 el TBL3 re NM OO6453 e Homo sapiens transducin (beta)- like 3 (TBL3), mRNA. S l 6 : 31.804883-31.804943 el ZNF267 re NM 003414 Homo sapiens Zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA. S l 6 : 468.141.97-468.14257 36640 el ABCC11 re NM 03.31.51 Homo sapiens ATP-binding re NM 032.583 sette, sub-family C (CFTR/MRP), re member 11 (ABCC11), transcript NM 145186 variant 2 mRNA. S l 6 : 46844137-4684,419.7 P2O456275 el LONP2 re NM 031490 e Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA. S l 6 : 469S3806-4695.3863 P125219 el SIAH1 re e Homo sapiens seven in absentia re homolog 1 (Drosophila) (SIAH1), NM OO3031 transcript variant 2, mRNA. S l 6 : 47132319-47132368 P1342OS el re NM 153029 e Homo sapiens Nedd4 binding protein 1 (N4BP1), mRNA. S l 6 : 7372669-73.72729 PO311 O154 el re NM 018723 e Homo sapiens ataxin 2-binding re NM 145891 protein 1 (A2BP1), transcript variant re 4, mRNA. NM 145892| re NM 145893 hschir16: 75782613-7578.2672 A 14 P135769 re NM O14940 ref Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA. US 2012/0053062 A1 Mar. 1, 2012 26

TABLE 1-continued Chromosomal Agilent Gene Location Probe ID Symbol Accession Description hs|chr16: 75874927-75874987 A 16 P20526604 entg|ADAMTS18 refNM 199355 ref Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), transcript variant 1, mRNA. Schr16: 792S73O8-792S7368 A 14 P110836 entg|CDYL2 refNM 152342 reflomo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. hs|chr16: 79600615-79600674. A 16 P20536795 entg|CENPN refNM 018455 reflomo sapiens centromere protein N (CENPN), mRNA. Schr16: 79633847-79633907 A 14 P102407 entg|ASCIZ refNM O15251 ref Homo sapiens ATM ATR Substrate Chk2-Interacting Zn2+- finger protein (ASCIZ), mRNA. Schr16: 79676478-79676538 A 14 P10O2S1 entg|GCSH refNM 004.483 reflomo sapiens glycine cleavage system protein H (aminomethyl carrier) (GCSH), mRNA. hs|chr16: 7970O375-7970.0434. A 16 P20537042 entg|PKD1 L2 refNM 052892 reflomo sapiens polycystic kidney disease 1-like 2 (PKD1 L2), transcript variant 1, mRNA. Schr16: 7983OS11-798.30571 A 14 P124389 entg|BCMO1 refNM 017429 ref Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. Schr16: 7991.1710-7991 1770 A 16 P20537502 entg|GAN refNM 022041 reflomo sapiens giant axonal neuropathy (gigaxonin) (GAN), mRNA. hs|chr16:80039370-80039430 A 16 P20537807 entg|CMIP refNM 198390 reflomo sapiens c-Maf-inducing protein (CMIP), transcript variant C mip, mRNA. Schr16: 8O377384-8O377.444. A 14 P103.643 entg|PLCG2 refNM 002661 reflomo sapiens phospholipase C, gamma 2 (phosphatidylinositol specific) (PLCG2), mRNA. Schr16: 80590O33-80590093 A 14 P120814 entg|HSPC105 refNM 1451.68 ref Homo sapiens NAD(P) dependent steroid dehydrogenase like (HSPC105), mRNA. hSchr16:80626347-806264O7. A 14 P112O39 entg|HSD17B2 refNM 002153 ref Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA. Schr16: 80742547-80742607 A 16 PO3187927 entg|MPHOSPH6 refNM OO5792 ref Homo sapiens M-phase phosphoprotein 6 (MPHOSPH6), mRNA. hSchr17: 1613875-1613934 A 14 P132429 entg|SERPINF1 refNM 002615 reflomo sapiens Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA. Schr17: 1629.727-1629787 A 16 PO3201775 entg|SMYD4 refNM 052928 ref Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA. hSchr17: 1684634-1684694 A. 166 PO3201824 entg|RPA1 refNM 002945 reflomo sapiens replication protein A1, 70 kDa (RPA1), mRNA. Schr17: 1784695-17847SS A. 4 P117472 entg|RTN4RL1 refNM 178568 ref Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA. Schr17: 1884967-1885O27 A. 144 P109496 entg|DPH1 refNM 001383 ref Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA. hSchr17: 1906351-19064O7 A. 166 PO3202129 entg|HIC1 refNM OO6497 ref Homo sapiens hypermethylated in cancer 1 (HIC1), mRNA. hSchr17: 1912423-1912483 A. 166 P4O73.0036 entg|SMG6 refNM 017575 reflomo sapiens Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), mRNA. hSchr17: 19654761-19654821 A 16 P20607805 entg|ULK2 refNM 014683 reflomo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), mRNA. Schr17: 19749897-19749957. A 14 P127O3S entg|AKAP10 refNM OO72O2 ref Homo sapiens Akinase (PRKA) anchor protein 10 (AKAP10), nuclear gene encoding mitochondrial protein, mRNA. Schr17: 19939012-1993.9072 A 14 P134326 entg|SPECC1 refNM 152904 reflomo sapiens sperm antigen with refNM OO1033553 calponin homology and coiled-coil domains 1 (SPECC1), transcript variant NSP5beta3alpha, mRNA. Schr17: 20974662-20974722 A 14 P111115 entg|DHRS7B refNM O15510 ref Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA. US 2012/0053062 A1 Mar. 1, 2012 27

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C l 7: 21042200-21042260 A 16 PO3225976 el 9. TMEM11 refNM OO3876 reflomo sapiens transmembrane protein 11 (TMEM11), mRNA. S l 7: 21088749-21088.809 A 16 P20610978 el MGC33894 refNM 152914 reflomo sapiens transcript expressed during hematopoiesis 2 (MGC33894), mRNA. S l : 21130610-21130664 PO3226092 el MAP2K3 refNM 145109 reflomo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA. S l : 21221644-21221703 P20611320 el KCNJ12 refNM 021012 reflomo sapiens potassium inwardly-rectifying channel, Subfamily J, member 12 (KCNJ12), mRNA. S l : 23115967-23116019 P1196.98 el NOS2A refNM 000625 ref Homo sapiens nitric oxide refNM 153292 synthase 2A (inducible, hepatocytes) (NOS2A), transcript variant 1, mRNA. S l : 307724O7-307724.67 PO3237885 el SLFN12 refNM 018042 ref Homo sapiens schlafen family member 12 (SLFN12), mRNA. S l : 30787395-307874.55 P408O1937 el SLFN13 refNM 144682 ref Homo sapiens schlafen family member 13 (SLFN13), mRNA. S l : 30926420-3092648O P131358 el PEX12 refNM 000286 reflomo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. S l : 309451 64-30945224 P121424 el refNM OO1030006 ref Homo sapiens adaptor-related re protein complex 2, beta 1 subunit NM 001282 (AP2B1), transcript variant 1, mRNA. S l : 31087715-31087775 PO3238.336 el RASL1OB refNM 033315 ref Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA. S l : 31 O96790-31096839 P106138 el GAS2L2 refNM 139285 reflomo sapiens growth arrest specific 2 like 2 (GAS2L2), mRNA. S l : 31118123-31118181 P13666S el MMP28 refNM 024302 reflomo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA. S l : 31161335-31161.395 P115859 el TAF15 refNM OO3487 ref Homo sapiens TAF15 RNA refNM 139215 polymerase II, TATA box binding protein (TBP)-associated factor, 68 kDa (TAF15), transcript variant 2, mRNA. S l : 41483739-41483793 P110538 el KIAA1267 refNM 015443 ref Homo sapiens KIAA1267 (KIAA1267), mRNA. S l : 41983406-419834.66 P2O6598.19 el refNM OO1OO6607 reflomo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA. S l : 42O49539-42O49599 PO3251360 el NSF refNM OO6178 ref Homo sapiens N-ethylmaleimide sensitive factor (NSF), mRNA. S l : 6096.1613-6096.1673 P139966 el AXIN2 refNM 004655 reflomo sapiens axin 2 (conductin, axil) (AXIN2), mRNA. S l : 61062371-61062431 P117155 el CCDC46 refNM OO1037325 reflomo sapiens coiled-coil domain re containing 46 (CCDC46), transcript NM 145036 variant 2 mRNA. S l : 10451918-10451978 el APCDD1 refNM 153000 reflomo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA. S l : 1052O811-1052O871 el NAPG refNM OO3826 ref Homo sapiens N-ethylmaleimide sensitive factor attachment protein, gamma (NAPG), mRNA. S l : 10662791-10662851 P109290 el FAM38B refNM 022068 ref Homo sapiens family with sequence similarity 38, member B (FAM38B), mRNA. S l : 18007094-18OO7154 P2O7885 27 el GATA6 refNM OO5257 ref Homo sapiens GATA binding protein 6 (GATA6), mRNA. S l : 1824.8552-18248612 el CTAGE1 refNM 172241 reflomo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. S l : 2553837-2553897 P2O755246 el METTL4 refNM 022840 ref Homo sapiens methyltransferase like 4 (METTL4), mRNA. S l : 2565012-25650.72 PO3305216 el NDC80 refNM OO6101 ref Homo sapiens NDC80 homolog, kinetochore complex component (S. cerevisiae) (NDC80), mRNA. S l : 27369253-27369313 A 14 P200506 el DSG2 refNM OO1943 reflomo sapiens desmoglein 2 (DSG2), mRNA. US 2012/0053062 A1 Mar. 1, 2012 28

TABLE 1-continued

Chromosomal Agi ent Gene Location Probe ID Sym bol Accession Description

S C l 8: 27425938-27425998 A. 6 P20811562 el TTR re NM 000371 e Homo sapiens transthyretin (prealbumin, amyloidosis type I) (TTR), mRNA. S l 8: 27458074-27458134 A. P4098.9277 el re NM 004775 e Homo sapiens UDP Ga :betaGlcNAc beta 14 ga actosyltransferase, polypeptide 6 (B 4GALT6), mRNA. S l 8: 27664619-27664.679 el KIAA1012 re NM O14939 e Homo sapiens KIAA1012 (KIAA1012), mRNA. S l 8: 278SS808-27855868 P130700 el RNF125 re NM O17831 e Homo sapiens ring finger protein 12 5 (RNF125), mRNA. S l 8: 27929522-27929.582 P121996 el RNF138 re NM O16271 | e Homo sapiens ring finger protein re NM 1981.28 13 8 (RNF138), transcript variant 1, l RNA. S l 8: 326931S1-32693211 el KIAA1328 re NM 020776 e Homo sapiens KIAA1328 (KIAA1328), mRNA. S l PO3345423 el BRUNOL4 re Homo sapiens bruno-like 4, RNA binding protein (Drosophila) (B RUNOL4), mRNA. S l 8: 7OO73944-70074004 PO34.02184 el re NM OO1914 e Homo sapiens cytochrome b5 re NM 148923 type A (microsomal) (CYB5A), transcript variant 2, mRNA. S l 8: 70316045-70316105 P133122 el CNDP2 re NM 018235 Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (C NDP2), mRNA. S l 8: 70353477-70353537 PO34O2618 el CNDP1 re NM 032649 e Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA. S l 8: 70411563-70411623 P20919551 el re e Homo sapiens hypothetical gene Sl pported by BC036588 (LOC400657), mRNA. S l 8: 70905729-70905783 P1341.73 el re NM 017757 e Homo sapiens Zinc finger protein 40 7 (ZNF407), mRNA. S l 8: 75235681-75235741 P111672 el re NM 198531 e Homo sapiens ATPase, Class II, type 9B (ATP9B), mRNA. S l 8: 75259663-75259723 PO34106.11 el NFATC1 re NM 172390 e Homo sapiens nuclear factor of re NM OO6162 80 ivated T-cells, cytoplasmic, re calcineurin-dependent 1 (NFATC1), NM 172388 transcript variant 1, mRNA. S l 8: 7S60828-7S60888 PO3312395 el PTPRM re NM 002845 Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), mRNA. S l 9: 191547O6-19154766 P125162 el MEF2B re NM 005919 e Homo sapiens myocyte enhancer factor 2B (MEF2B), mRNA. S l 9: 19165678-1916S738 PO3431888 el RFXANK re NM 003721 e Homo sapiens regulatory factor re NM 134440 X-associated ankyrin-containing protein (RFXANK), transcript variant 1 mRNA. S l 9: 19188967-1918.9027 P209750O2 el NCAN re NM 004386 e Homo sapiens neurocan (NCAN), l RNA. S l 9: 19232SO2-19232S47 P1292.82 el HAPLN4 re e Homo sapiens hyaluronan and proteoglycan link protein 4 (H APLN4), mRNA. S l 9: 1924.3641-19243699 P123568 el re NM 001001524 e Homo sapiens transmembrane 6 Sl perfamily member 2 (TM6SF2), l RNA. S l 9: 19253722-19253782 PO3432007 el re NM 172231 e Homo sapiens splicing factor 4 (S F4), mRNA. S l 9: 19294613-19294.673 el KIAAO892 re NM O15329 e Homo sapiens KIAAO892 (KIAAO892), mRNA. S l 9: 1943,7236-1943,7294 P11862O el GATAD2A re NM O17660 e Homo sapiens GATA Zinc finger do main containing 2A (GATAD2A), l RNA. S l 9: 19491430-1949.148O P101725 el NDUFA13 re NM O15965 e Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha Sl bcomplex, 13 (NDUFA13), l RNA. S l 9: 19502263-195O2318 P20975.783 el FLJ44968 re NM 198537 e Homo sapiens FLJ44968 protein (F LJ44968), mRNA. S l 9: 19514805-1951.4859 P1.16539 el CILP2 re NM 153221 e Homo sapiens cartilage in ermediate layer protein 2 (CILP2), l RNA. US 2012/0053062 A1 Mar. 1, 2012 29

TABLE 1-continued Chromosomal Agilent Gene Location Probe ID Symbol Accession Description hSchr19:19598166-19598215 A 14 P104996 entg|EDG4 refNM 004.720 ref Homo sapiens endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4 (EDG4), mRNA. hSchr19: 196O1588-19601646 A 14 P1.16930 entg|GMIP refNM O16573 ref Homo sapiens GEM interacting protein (GMIP), mRNA. hSchr19: 19618616-19618666 A 14 P108120 entg|ATP13A1 refNM 020410 ref Homo sapiens ATPase type 13A1 (ATP13A1), mRNA. hSchr19: 19643662-1964.3722 A 16 P41161207 entg|ZNF101 refNM 033204 reflomo sapiens Zinc finger protein 101 (ZNF101), mRNA. Schr19: 1968.7039-1968.709S A 14 P115484 entg|ZNF14 refNM 021030 reflomo sapiens Zinc finger protein 14 (ZNF14), mRNA. hs|chr19: 1984.7024-19847084. A 16 PO3432734 entg|ZNF253 refNM 021047 reflomo sapiens Zinc finger protein 253 (ZNF253), mRNA. Schr19: 1987 S243-19875291 A 16 P41161602 entg|ZNF93 refNM 031218 reflomo sapiens Zinc finger protein 93 (ZNF93), mRNA. hSchr19: 22156551-221566.11 A 16 P41164705 entg|ZNF676 refNM 001001411 reflomo sapiens Zinc finger protein 676 (ZNF676), mRNA. Schr19:2272497-2272557 A 14 P109751 entg|LSM7 refNM 016199 ref Homo sapiens LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM7), mRNA. hSchr19:2280485-228.0545 A 14 P127655 entg|SPPL2B refNM 001077238 reflomo sapiens signal peptide re peptidase-like 2B (SPPL2B), NM 152988 transcript variant 3, mRNA. hSchr19:2345664-2345724 A 16 P20940811 entg|TMPRSS9 refNM 182973 reflomo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA. Schr19:2377S34-2377S84 A 14 P107939 entg|TIMM13 refNM 012458 reflomo sapiens translocase of inner mitochondrial membrane 13 homolog (yeast) (TIMM13), nuclear gene encoding mitochondrial protein, mRNA. Schr19: 2379724-2379784 A 14 P128231 entg|LMNB2 refNM 032737 ref Homo sapiens lamin B2 (LMNB2), mRNA. hSchr19: 2429106-2429166 A 14 P119132 entg|GADD45B refNM O15675 reflomo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA. hSchr19: 2462310-2462369 A 14 P106243 entg|GNG7 refNM 052847 reflomo sapiens guanine nucleotide binding protein (G protein), gamma 7 (GNG7), mRNA. Schr19:39357485-39357545 A 14 P10663S entg|LSM14A refNM O15578 ref Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), mRNA. hSchr19: 4346O441-434-605O1 A 16 P21005414 entg|SPINT2 refNM 021102 reflomo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), mRNA. hSchr19: 43490574-43490629 A 14 P1394.17 entg|YIF1B refNM 033557 reflomo sapiens Yip 1 interacting refNM OO 1039671) factor homolog B (S. cerevisiae) refNM OO1039672 (YIF1B), transcript variant 2, re mRNA. NM OO1039673 hschr19:43504066-43504114 A 14 P117281 entg|KCNK6 refNM 004823 reflomo sapiens potassium channel, Subfamily K, member 6 (KCNK6), mRNA. Schr19:43558108-4355816S A 16 PO3448763 entg|PSMD8 refNM 002812 reflomo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 (PSMD8), mRNA. Schr19:43573.381-43573441 A 16 PO3448788 entg|SPRED3 refNM 001039616 reflomo sapiens sprouty-related, re EVH1 domain containing 3 NM OO1042522 (SPRED3), transcript variant 2, mRNA. hschr19:43588218-43588272 A 14 P113152 entg|FAM98C refNM 174905 ref Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA. hSchr19: 4359.4465-43594525 A 14 P1241.75 entg|RASGRP4 refNM 170602 reflomo sapiens RAS guanyl refNM 170603 | releasing protein 4 (RASGRP4), re transcript variant 2, mRNA. NM 170604 hSchr19:43619830-43619889 A 14 P110331 entg|RYR1 refNM 000540 reflomo sapiens ryanodine receptor refNM OO1042723 1 (skeletal) (RYR1), transcript variant 1 mRNA. US 2012/0053062 A1 Mar. 1, 2012 30

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C l 9: 43774O27-43.774087 A 14 P130348 el 9. MAP4K1 re NM OO1042600 e Homo sapiens mitogen-activated re protein kinase kinase kinase kinase 1 NM 007181 (MAP4K1), transcript variant 1, RNA. S l 9:438O3970-43804030 A 16 P21006181 el re NM 013234 Homo sapiens eukaryotic translation initiation factor 3, Subunit 12 (EIF3S12), mRNA. S l 9: 43831414-43831474 A 16 P21006220 el ACTN4 re NM 004924 e Homo sapiens actinin, alpha 4 (ACTN4), mRNA. S l 9: 43914023-43914083 A 16 PO3449258 el CAPN12 re NM 144691 e Homo sapiens calpain 12 (CAPN12), mRNA. S l 9:43986039-43986096 A 14 P111700 el LGALS4 re NM OO6149 Homo sapiens lectin, galactoside binding, soluble, 4 (galectin 4) (LGALS4), mRNA. S l 9:43997948-43998008 A 16 PO3449320 el ECH1 re NM 001398 e Homo sapiens enoyl Coenzyme A hydratase 1, peroxisomal (ECH1), RNA. S l 9: 44024263-44024323 A 14 P1381.27 el HNRPL re NM OO1533 Homo sapiens heterogeneous re NM 001005335 nuclear ribonucleoprotein L. NRPL), transcript variant 1, RNA. S l 9:58596259-58S96319 A 16 P21036109 el ZNF765 re NM OO1040185 Homo sapiens Zinc finger protein 765 (ZNF765), mRNA. S l 9: S8652486-58652S38 A 16 PO3463766 el re NM 0010084O1 Homo sapiens Zinc finger protein 761 (ZNF761), mRNA. S l 9:58663139-58663184 A 16 P41226481 el ZNF813 re NM OO1004301 e Homo sapiens Zinc finger protein 81 3 (ZNF813), mRNA. S l 9:58717687-58717742 A 14 P102510 el ZNF331 re NM 018555 e Homo sapiens Zinc finger protein 33 (ZNF331), transcript variant 1, l RNA. S l 9:58829751-58829811 A 16 P21036530 el DPRX re NM 001012728 e Homo sapiens divergent-paired e ated homeobox (DPRX), mRNA. S l 9:5898.9173-5898.9233 A 16 P21036862 el NLRP12 re NM 144687| e Homo sapiens NLR family, pyrin re NM 03.3297 domain containing 12 (NLRP12), transcript variant 2, mRNA. S l 9: 59069708-59069759 A 14 P112678 el MYADM re NM 001020820 e Homo sapiens myeloid-associated re di erentiation marker (MYADM), NM 001020819 transcript variant 4, mRNA. re NM 138373| re NM 001020821 re NM 001020818 S l 9: S9082O56-59082116 A 16 P21036989 el PRKCG re NM OO2739 e Homo sapiens protein kinase C, gamma (PRKCG), mRNA. S l 9: S9108290-59108349 A 16 P41227373 el CACNG7 re NM 031896 e Homo sapiens calcium channel, voltage-dependent, gamma Subunit 7 (CACNG7), mRNA. S l 9: 59164790-59164845 A 16 PO3464-185 el CACNG8 re NM 031895 e Homo sapiens calcium channel, voltage-dependent, gamma Subunit 8 (CACNG8), mRNA. S l 9: 591944O1-59194461 A 14 P107943 el CACNG6 re NM 031897| e Homo sapiens calcium channel, re NM 145814 voltage-dependent, gamma Subunit 6 re (CACNG6), transcript variant 3, NM 145815 RNA. S l 9: 59237251-59237309 A 16 P21037291 el VSTM1 re NM 198481 Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA. S l 9: 592947S7-59294.809 A 14 P1OS349 el OSCAR re NM 130771) e Homo sapiens osteoclast re NM 1331.68 associated receptor (OSCAR), re transcript variant 3, mRNA. NM 133169. re NM 206818 hschir19:593OO843-59300897 A 14 P133007 re NM 004542 ref Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha Subcomplex, 3, 9 kDa (NDUFA3), mRNA. hschr19:593061.64-59306215 A 16 PO34.64303 re NM 013342 ref Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA. hschir19:59310831-59310881 A 14 P135834 re NM O15629 ref Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA. US 2012/0053062 A1 Mar. 1, 2012 31

TABLE 1-continued

Chromosomal Agi ent Gene Location Probe ID Sym bol Accession Description

S C hir19 : 59337765-5933 7825 A. 4 P100437 enlig CNOT3 re NM 014516 e Homo sapiens CCR4-NOT transcription complex, Subunit 3 (CNOT3), mRNA. S hir19: S9352S89-5935.2646 P120931 enlig LENG1 re NM 024316 e Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), RNA. S hir19: S9358295-59358344 P126333 enlig TMC4 re NM 1446.86 Homo sapiens transmembrane channel-like 4 (TMC4), mRNA. S hir19: S9370362-59370422 P21037606 enlig LENG4 re NM 024298 Homo sapiens leukocyte receptor cluster (LRC) member 4 (LENG4), RNA. S hir19: S938.9151-5938.9211 P127989 enlig TSEN34 re Homo sapiens tRNA splicing re el onuclease 34 homolog (S. cerevisiae) (T SEN34), transcript variant 1 mRNA. S hir19: 59398678-59398.737 P128385 enlig RPS9 re NM 001013 Homo sapiens ribosomal protein S9 (RPS9), mRNA. S hir19: 59414644–59414704 P412281.37 enlig re NM 001081450 e Homo sapiens leukocyte re immunoglobulin-like receptor, NM O06864 Sl bfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 1, mRNA. S hir19: 59.434158-5943.4216 PO3464474 enlig LILRA6 re NM 024318 e Homo sapiens leukocyte immunoglobulin-like receptor, Sl bfamily A (with TM domain), member 6 (LILRA6), mRNA. S hir19: S9446273-59446.327 P137001 enlig re NM 001081442 e Homo sapiens leukocyte re immunoglobulin-like receptor, NM 001081443 Sl bfamily B (with TM and ITIM re NMOO6840 domains), member 5 (LILRB5), transcript variant 1, mRNA. S hir19: 637652-637712 P200510 entg PRSSL1 re NM 214710 Homo sapiens protease, serine like 1 (PRSSL1), mRNA. S hir19: 6621.17-662177 P20936373 entg PALM re NM 00104O134 Homo sapiens paralemmin re (PALM), transcript variant 2, NM OO2579 RNA. S hir19: 753833-7538.93 P132300 entg PTBP1 re NM 002819 Homo sapiens polypyrimidine re NM 03.1990 tract binding protein 1 (PTBP1), re transcript variant 1, mRNA. NM O31991 re NM 175847 S hir19: 766729-766774 PO3412397 enlig PRG2 re NM 024888 e Homo sapiens plasticity-related ge ne 2 (PRG2), mRNA. S hir19: 781585-781639 P1377 24 enlig AZU1 re NM OO1700 e Homo sapiens azurocidin 1 (cationic antimicrobial protein 37) (AZU1), mRNA. S hir19: 794977-795024 PO3412416 enlig PRTN3 re NM 002777 Homo sapiens proteinase 3 (serine proteinase, neutrophil, Wegener granulomatosis 8. toantigen) (PRTN3), mRNA. S hir19: 806290-806342 P200511 enlig ELA2 re NM OO1972 e Homo sapiens elastase 2, le utrophil (ELA2), mRNA. S hir19: 810850-810907 P120706 enlig CFD re NM OO1928 e Homo sapiens complement factor D adipsin) (CFD), mRNA. S hir19: 820454-820514 PO3412441 enlig THRAPS re NM 005481 e Homo sapiens thyroid hormone receptor associated protein 5 (T HRAP5), mRNA. S hir19: 871877-87.1937 P1071.64 enlig KISS1R re NM 032551 e Homo sapiens KISS1 receptor (KISS1R), mRNA. S hir19: 87.7497-8775.57 PO3412515 enlig ARID3A re NM OO5224 e Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA. S hir19: P134978 enlig WDR18 re NM 024100 e Homo sapiens WD repeat domain 18 (WDR18), mRNA. S hir19: 957814-957862 P103121 enlig GRIN3B re NM 138690 Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA. S : 10342146-103422O6 A P101.152 enlig MKKS re NM 018848 Homo sapiens McKusick re NM 170784 aufman syndrome (MKKS), transcript variant 1, mRNA. S : 17870420-17870480 A P122032 enlig re NM O14426 e Homo sapiens sorting nexin 5 re NM 152227 (SNX5), transcript variant 2, mRNA. US 2012/0053062 A1 Mar. 1, 2012 32

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession Description

S C 17952879-1795.2939 P210901.91 enlig OVOL2 refNM 021220 ref Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA. S 21233373-21233.433 P108632 enlig refNM 012255 ref Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA. S 21635879-21 635939 P1256O2 enlig PAX1 refNM OO6.192 reflomo sapiens paired box gene 1 (PAX1), mRNA. S 2247499-2247559 P1346.67 enlig TGM3 refNM 003245 reflomo sapiens transglutaminase 3 (Epolypeptide, protein-glutamine gamma-glutamyltransferase) (TGM3), mRNA. S 2317441-2317SO1 A. 6 P2105.2139 enlig TGM6 refNM 198994 reflomo sapiens transglutaminase 6 (TGM6), mRNA. S 23754211-2375.4257 A. 6 P41296952 enlig CST2 refNM 001322 ref Homo sapiens cystatin SA (CST2), mRNA. S 23805886-23805946 A. 4 P125592 enlig CSTS refNM 001900 ref Homo sapiens cystatin D (CST5), mRNA. S 2390989-2391049 A. 6 PO3471936 enlig SNRPB refNM 003091 reflomo sapiens Small nuclear refNM 198216 ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 2, mRNA. S 2412866-24.12926 P104271 enlig refNM 024.325 reflomo sapiens Zinc finger protein 343 (ZNF343), mRNA. S 2476329-2476389 P21 OS2442 enlig TMC2 refNM 080751 reflomo sapiens transmembrane channel-like 2 (TMC2), mRNA. S 2S8S974-2586034 P133992 enlig NOLSA refNM OO6392 reflomo sapiens nucleolar protein 5A (56 kDa with KKE/D repeat) (NOL5A), mRNA. S P125369 enlig refNM OO6899 reflomo sapiens isocitrate refNM 174855 dehydrogenase 3 (NAD+) beta re (IDH3B), nuclear gene encoding NM 174856 mitochondrial protein, transcript variant 1 mRNA. S 29311017-2931.1077 A. 6 P21110147 entg DEFB115 refNM OO1037730 ref Homo sapiens defensin, beta 115 (DEFB115), mRNA. S 29423640-29423700 A. 4 P132767 entg DEFB118 refNM 054112 ref Homo sapiens defensin, beta 118 (DEFB118), mRNA. S 36066S36-36066595 A. 6 entg refNM 014657 ref Homo sapiens KIAA0406 (KIAA0406), mRNA. S 36202093-36202153 A. 4 entg TGM2 refNM 004613 reflomo sapiens transglutaminase 2 refNM 198951 (C polypeptide, protein-glutamine gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA. S 38748O3O-3874.8090 P1004.86 enlig MAFB refNM 005461 ref Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) (MAFB), mRNA. S 4O136919-401.36979 P128414 enlig PTPRT refNM 007050 reflomo sapiens protein tyrosine refNM 133170 phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. S 56663799-56663859 P138998 enlig STX16 refNM 001001433 reflomo sapiens syntaxin 16 re (STX16), transcript variant 1, NM 003763 mRNA. S 56704228-S6704287 PO3S41605 enlig NPEPL1 refNM 024663 reflomo sapiens aminopeptidase like 1 (NPEPL1), mRNA. S 60552910-60552955 P4138O117 enlig refNM 152757 ref Homo sapiens hypothetical protein FLJ30313 (FLJ30313), mRNA. S 6O753459-60753516 PO3547.933 enlig SLCO4A1 refNM 016354 ref Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA. S 60814249-60814309 enlig NTSR1 refNM OO2531 reflomo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA. S 60911384-60911434 enlig OGFR refNM 007346 reflomo sapiens opioid growth factor receptor (OGFR), mRNA. S 6092O275-60920320 P41380946 enlig refNM OO1853 reflomo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA. S 67OO675-6700735 P1181.28 enlig BMP2 refNM 001200 ref Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA. US 2012/0053062 A1 Mar. 1, 2012 33

TABLE 1-continued Chromosomal Agilent Gene Location Probe ID Symbol Accession Description hs|chr21: 16026984-16027044. A 16 P03553415 entg|USP25 refNM 013396 reflomo sapiens ubiquitin specific peptidase 25 (USP25), mRNA. hschir21:21301277-21301.337 A 14 P136854 entg|NCAM2 refNM 004540 ref Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA. hs|chr21:25883439-25883499 A 16 P03567193 entg|MRPL39 refNM 017446 reflomo sapiens mitochondrial refNM 080794 ribosomal protein L39 (MRPL39), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. hs|chr21: 25937744-25937804. A 16 P21219885 entg|JAM2 refNM 021219 reflomo sapiens junctional adhesion molecule 2 (JAM2), mRNA. hschir21: 26020409-26020469 A 14 P129661 entg|ATP5J refNM 001003696 ref Homo sapiens ATP synthase, H+ re transporting, mitochondrial FO NM 001003697 complex, Subunit F6 (ATP5J), refNM 001003701 | nuclear gene encoding mitochondrial refNM 001003703 protein, transcript variant 3, mRNA. re NM OO1685 hs|chr21: 26034503-26034563 A 16 P03567438 entg|GABPA refNM 002040 ref Homo sapiens GA binding protein transcription factor, alpha subunit 60 kDa (GABPA), mRNA. hs|chr21:26175054-26175112 A 16 P21220493 entg|APP refNM 000484 ref Homo sapiens amyloid beta (A4) refNM 201413 precursor protein (peptidase nexin-II, re Alzheimer disease) (APP), transcript NM 201414 variant 1 mRNA. hs|chr21: 30614342-30614402 A 16 PO3574153 entg|KRTAP26-1 refNM 203405 reflomo sapiens keratin associated protein (KRTAP26-1), mRNA. hschir21:30665869-30665920 A 14 P114884 entg|KRTAP13-2 refNM 181621 reflomo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA. hschir21:30690772-30690832 A 14 P111688 entg|KRTAP13-1 refNM 181599 reflomo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA. hschir21: 30734699-30734746 A 14 P123396 entg|KRTAP15-1 refNM 181623 reflomo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA. hschir21: 30785733-3078.5793 A 14 P200585 entg|KRTAP19-3 refNM 181609 reflomo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA. hschir21:30791066-30791126 A 14 P104353 entg|KRTAP19-4 refNM 181610 reflomo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA. hschir21:30835,781-30835829. A 14 P139606 entg|KRTAP19-6 refNM 181612 reflomo sapiens keratin associated protein 19-6 (KRTAP19-6), mRNA. hs|chr21: 34206536-34206595 A 16 PO3579493 entg|ATP5O refNM OO1697 ref Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, OSubunit (oligomycin sensitivity conferring protein) (ATP5O), nuclear gene encoding mitochondrial protein, mRNA. hs|chr21: 34370842-34370902 A 16 P21240974 entg|MRPS6 refNM 032476 reflomo sapiens mitochondrial ribosomal protein S6 (MRPS6), nuclear gene encoding mitochondrial protein, mRNA. hschir21:34662787-34662842 A 14 P1061.99 entg|KCNE2 refNM 1722O1 reflomo sapiens potassium voltage gated channel, Isk-related family, member 2 (KCNE2), mRNA. hschir21:34810803-348108.63 A 14 P139150 entg|DSCR1 refNM 203418 ref Homo sapiens Down syndrome refNM 203417 critical region gene 1 (DSCR1), re transcript variant 3, mRNA. NM 004414 hs|chr21: 34965868-34965928. A 16 P21242477 entg|CLIC6 refNM 053277 ref Homo sapiens chloride intracellular channel 6 (CLIC6), mRNA. hschir21:35084119-35084179 A 14 P136022 entg|RUNX1 refNM 001001890 ref Homo sapiens runt-related re transcription factor 1 (acute myeloid NM OO1754 leukemia. 1; aml1 oncogene) (RUNX1), transcript variant 2, mRNA. hs|chr21:37665997-37666057 A 16 P41446925 entg|DYRK1A refNM 101.395 reflomo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 3, mRNA. US 2012/0053062 A1 Mar. 1, 2012 34

TABLE 1-continued

Chromosomal Agi ent Gene Location Probe ID Sym bol Accession Description

S C hir21: 41672339-41672.399 A. 6 PO3590910 el MX2 re NM 002463 e Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA. S : 41725577-41725624 P1.16424 el MX1 re NM 002462 Homo sapiens myxovirus (influenza virus) resistance 1, in erferon-inducible protein p78 (mouse) (MX1), mRNA. S : 41760060-4176O112 P12O220 el TMPRSS2 re NM OO5656 e Homo sapiens transmembrane protease, serine 2 (TMPRSS2), RNA. S : 42O33471-42O33531 P1071.93 el RIPK4 re NM 020639 Homo sapiens receptor eracting serine-threonine kinase 4 (RIPK4), mRNA. S : 44215182-44215242 P21266.122 el AGPAT3 re NM O2O132 Homo sapiens 1-acylglycerol-3- re NM OO1037553 phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, RNA. S : 442606.75-4426073S P21266236 el TMEM1 re NM 001001723 Homo sapiens transmembrane re protein 1 (TMEM1), transcript NM OO3274 variant 2 mRNA. S : 443S3235-44353295 P21266472 el PWP2 re NM 005049 Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA. S : 44471769-44471829 PO3595.043 el ICOSLG re NM O15259 e Homo sapiens inducible T-cell CO -stimulator ligand (ICOSLG), l RNA. S : 46.1092SS-4610931S P41469289 el PCBP3 re NM 020528 e Homo sapiens poly(rC) binding protein 3 (PCBP3), mRNA. S : 46229852-46229897 P21271209 el COL6A1 re NM 001848 Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA. S : 463S2738-463S2798 P41469934 el COL6A2 re NM 058174 Homo sapiens collagen, type VI, re NM 058175| alpha 2 (COL6A2), transcript variant re 2C2a, mRNA. NM 001849 S : 46.386O86-4638.6146 P1.168.23 el FTCD re NM OO6657 e Homo sapiens re NM 206965 fo rmininotransferase cy clodeaminase (FTCD), transcript variant B, mRNA. S : 464334.56-46433516 P138469 el LSS re NM 001001438) Homo sapiens lanosterol synthase re (2,3-oxidosqualene-lanosterol NM 002340 cy clase) (LSS), transcript variant 2, l RNA. S : 46479771-46479831 P137127 el MCM3AP re NM OO3906 e Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), RNA. S : 99.31865-9931925 P21 189519 el TPTE re NM 199259| Homo sapiens transmembrane re NM 199260 phosphatase with tensin homology re (TPTE), transcript variant 2, mRNA. NM 199261 S h22: 7718800-1771886O P41478766 el HIRA re NM OO3325 e Homo sapiens HIRhistone cell cy cle regulation defective homolog A. S. cerevisiae) (HIRA), mRNA. S h22: 78O1220-178O128O P102175 el MRPL40 re NM 003776 e Homo sapiens mitochondrial ribosomal protein L40 (MRPL40), nuclear gene encoding mitochondrial protein, mRNA. S h22: 7813833-17813893 P200597 el LOC128977 re NM 173793 Homo sapiens hypothetical protein LOC128977 (LOC128977), RNA. S h22: 7818735-17818795 el re NM OO 1035247| Homo sapiens ubiquitin fusion re de gradation 1 like (yeast) (UFD1L), transcript variant 2, mRNA. S h22: 78S1380-1785.1440 P127995 el re NM 003504 e Homo sapiens CDC45 cell division cycle 45-like (S. cerevisiae) (C DC45L), mRNA. S h22: 789OS43-17890594 P1.16836 el CLDNS re NM OO3277 e Homo sapiens claudin 5 (transmembrane protein deleted in we ocardiofacial syndrome) (C LDN5), mRNA. S h22: PO36O1258 el SEPTS re NM 002688 e Homo sapiens septin 5 (SEPT5), l RNA. US 2012/0053062 A1 Mar. 1, 2012 35

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Sym bol Accession escription

S C h22: 8129193-18129247 A 16 PO36O1342 enlig TBX1 re NM 080647| e Homo sapiens T-box 1 (TBX1), re NM 08.0646 transcript variant C, mRNA. re NM 005992 S h22: 8159338-18159398 PO36O1387 enlig re NM 053004 e Homo sapiens guanine nucleotide biinding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA. S h22: 8246605-18246665 P111851 enlig re NM O06440 e Homo sapiens thioredoxin e ductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, l RNA. S h22: 8318926-18318986 PO36O1591 enlig COMT re NM 000754 ref Homo sapiens catechol-O- l ethyltransferase (COMT), transcript variant MB-COMT, mRNA. S h22: 8343623-18343669 PO36O1631 enlig ARVCF re NM OO1670 e Homo sapiens armadillo repeat gene deletes in velocardiofacial syndrome (ARVCF), mRNA. S h22: 845.7133-18457.191 P114411 enlig DGCR8 re NM O22720 Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), mRNA. S h22: 848.1911-18481964 P103991 enlig re NM O22727 e Homo sapiens HpaII tiny re NM 182984 fragments locus 9C (HTF9C), transcript variant 1, mRNA. S h22: 8485842-1848S902 P21281628 enlig RANBP1 re NM 002882 e Homo sapiens RAN binding protein 1 (RANBP1), mRNA. S h22: 8SO3384-18503442 P1398.07 enlig re NM 013373 Homo sapiens Zinc finger, HHC-type containing 8

S h22: 22445703-22445755 P1121.21 enlig MMP11 re NM OO5940 e Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA. S h22: 22464OO9-22464O68 P111527 enlig SMARCB1 re NM OO1007468 Homo sapiens SWI/SNF related, re matrix associated, actin dependent NM 003073 e gulator of chromatin, Subfamily b, member 1 (SMARCB1), transcript variant 2 mRNA. S h22: 22SO8118-22508173 P21291296 enlig DERL3 re e Homo sapiens Der1-like domain re family, member 3 (DERL3), NM 198440 transcript variant 2, mRNA. S h22: 22S32O19-22S32079 P41491.267 enlig SLC2A11 re NM 001024938 e Homo sapiens Solute carrier re family 2 (facilitated glucose transporter), member 11 (SLC2A11), re NM 001024939 transcript variant 3, mRNA. S h22: 22641434-22641479 P21291586 enlig LOC100037417 re NM 0010843.93 Homo sapiens D-dopachrome tautomerase-like (LOC100037417), mRNA. S h22: 227O6165-227O6225 PO3605972 enlig GSTT1 re NM OOO853 Homo sapiens glutathione S transferase theta 1 (GSTT1), mRNA. S h22: 26474238-26474.298 P135858 enlig MN1 re NM OO2430 Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA. S h22: 26577775-26577828 P11 2007 enlig PITPNB re NM 012399 e Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA. S h22: 3O483637-30483697 P41511230 enlig DEPDC5 re NM OO1007188 e Homo sapiens DEP domain re containing 5 (DEPDC5), transcript NM 014662 variant 2 mRNA. S h22: 30671273-30671324 P112008 enlig YWHAH re NM OO3405 e Homo sapiens tyrosine 3 monooxygenase/tryptophan 5 monooxygenase activation protein, eta polypeptide (YWHAH), mRNA. S h22: 30771611-30771671 P131156 enlig SLCSA1 re NM OOO343 e Homo sapiens Solute carrier family 5 (sodium glucose cotransporter), member 1 (SLC5A1), mRNA. S h22: 3O876138-3O876198 P415121.78 enlig LOC1SO297 re NM 001010859 e Homo sapiens hypothetical protein LOC150297 (LOC150297), mRNA. S h22: 30917672-30917732 PO36.16889 enlig RFPL2 re NM OO6605 Homo sapiens retfinger protein like 2 (RFPL2), mRNA. US 2012/0053062 A1 Mar. 1, 2012 36

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Symbol Accession Description hschir22: 37021686-37021739 A 16 PO36251.76 refNM 152221 reflomo sapiens casein kinase 1, refNM OO1894 epsilon (CSNK1E), transcript variant 1, mRNA. hschir22: 39.098465-39.09852S A 16 PO3627864 refNM O15705 ref Homo sapiens RUN and TBC1 domain containing 3 (RUTBC3), mRNA. hschir22: 391.41102-39141154 A 16 PO3627917 refNM 020831 reflomo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. hschir22: 394OS345-394OS398 A 14 P117741 refNM 005297 reflomo sapiens melanin concentrating hormone receptor 1 (MCHR1), mRNA. hschir22: 3949.5859-394-95919 A 16 P21331597 refNM OO6358 ref Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34 kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA. hschir22: 39.552993-39553053 P21331714 refNM OO3932 reflomo sapiens Suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA. hschir22: 39586378-3958.6438 A 14 P123S06 refNM 022098 ref Homo sapiens X-prolyl refNM 145174 aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), mRNA. hschir22: 42428563-42428623 P415408OS refNM 022785 ref Homo sapiens CAP-binding refNM 198856 protein complex interacting protein 1 (FLJ23588), transcript variant 1, mRNA. hschir22: 425548O3-425548SO A 14 P12752O refNMO14351 ref Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA. hschir22: 485.78748-485,78802 A 16 PO3640757 refNM 014577 reflomo sapiens bromodomain containing 1 (BRD1), mRNA. hschir22: 48.634916-48.634976 A 16 P21353790 refNM O14838 ref Homo sapiens Zinc finger, BED type containing 4 (ZBED4), mRNA. hschir22: 48682858-48682918 A 16 P41556699 refNM 024105 reflomo sapiens asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6- mannosyltransferase) (ALG12), mRNA. hschir22: 486998.07-48699863 A 14 P1.161.78 refNM 024324 ref Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), mRNA. hschir22: 48742O58-48742103 P21354,055 refNM 001001852 reflomo sapiens pim-3 oncogene (PIM3), mRNA. hschir22: 48785453-4878SS13 A 14 P107287 refNM 001001694 ref Homo sapiens FLJ41993 protein (FLJ41993), mRNA. hschir22: 487983S4-48798413 A 16 P21354142 entg|LOC164714 refNM 001080447 ref Homo sapiens similar to RIKEN cDNA 1700019B01 (LOC164714), mRNA. hschir22: 48839988-4884OO48 A 16 PO3641053 refNM 139202 reflomo sapiens megalencephalic refNM 015166 leukoencephalopathy with Subcortical cysts 1 (MLC1), transcript variant 2, mRNA. hschir22: 48872720-48872776 A 16 P41SS7230 refNM 018995 ref Homo sapiens Mov1011, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV1OL1), mRNA. hschrX: 1OOO6847-1OOO6907 A 14 P112163 refNM O15691 ref Homo sapiens WWC family member 3 (WWC3), mRNA. hschrX: 10O85077-10O851.33 A 14 P108116 refNM 001830 ref Homo sapiens chloride channel 4 (CLCN4), mRNA. hschrX: 10382854-10382914 A 16 P213794O1 refNM OOO381 ref Homo sapiens midline 1 refNM 03.3291 (Opitz/BBB syndrome) (MID1), re transcript variant 1, mRNA. NM 033290 hschrX: 125511403-125511463 A 14 P201080 refNM 178470 ref Homo sapiens WD repeat domain 40B (WDR4OB), mRNA. hschrX: 140097588-140097648. A 14 P134104 refNM 012317 reflomo sapiens leucine Zipper, down-regulated in cancer 1 (LDOC1), mRNA. US 2012/0053062 A1 Mar. 1, 2012 37

TABLE 1-continued

Chromosomal Agilent Gene Location Probe ID Symbol Accession Description hschrX: 1SO318683-1SO318743 A 16 P21631742 entg|LOC203547 refNM 00101798O ref Homo sapiens hypothetical protein LOC203547 (LOC203547), mRNA. hschrX: 1SO483644-1SO483704 A 16 PO3792974 refNM 173493 ref Homo sapiens PAS domain containing 1 (PASD1), mRNA. hschrX: 1506,18776-150618836 A 14 P125206 refNM 024082 ref Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), mRNA. hschrX: 1506.39246-1SO 639303 A 14 P128319 refNM 033085 ref Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA. hschrX: 150654305-15065436S A 16 PO3793221 refNM 005140 reflomo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA. hschrX: 150842O2S-150842O75 A 16 PO3793454 entg|MAGEA4 refNM 00101.1548 reflomo sapiens melanoma antigen re family A, 4 (MAGEA4), transcript NM 002362| variant 1 mRNA. refNM 001011549 re NM 00101.1550 hschrX: 296.1012-296.1072 P2136O756 refNM 001011719 reflomo sapiens arylsulfatase family, member H (ARSH), mRNA. hschrX: 2996343-2996403 PO3642253 refNM 004.042 ref Homo sapiens arylsulfatase F (ARSF), mRNA. hschrX: 3244040-32441OO PO3642569 refNM O15419 reflomo sapiens matrix remodelling associated 5 (MXRA5), mRNA. hschrX: 35854112-35854172 35257 refNM 152632 ref Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. hschrX: 48510536-48510596 refNMOO1080489 reflomo sapiens glyoxalase domain containing 5 (GLOD5), mRNA. hschrX: 48533175-48533227 refNM 002049 ref Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA. hschrX: 48SSOO49-485SO109 OS698 refNM OO6044 ref Homo sapiens histone deacetylase 6 (HDAC6), mRNA. hschrX: 485,73322-485,73378 10723 refNM 181532 ref Homo sapiens ES cell expressed Ras (ERAS), mRNA. hschrX: 48577626-485776.86 37697 refNM 013271 reflomo sapiens proprotein convertase Subtilisinkexin type 1 inhibitor (PCSK1N), mRNA. hschrX: 48635653-486.35707 21741 refNM OO5834 reflomo sapiens translocase of inner mitochondrial membrane 17 homolog B (yeast) (TIMM17B), mRNA. hschrX: 4864-1997-48642O57 O4114 refNM OO1032381 reflomo sapiens polyglutamine re binding protein 1 (PQBP1), NM OO1032382 transcript variant 2, mRNA. refNM OO1032383 refNM OO1032385 refNM OO1032384 refNM O05710 hschrX: 4864-5821-4864-5881 A 14 P139896 refNM OO5660 ref Homo sapiens solute carrier refNM 001042498 family 35 (UDP-galactose refNM OO 1032289 transporter), member A2 (SLC35A2), transcript variant 1, mRNA. hschrX: 48655377-486SS436 A 14 P1381.94 refNM OO6875 reflomo sapiens pim-2 oncogene (PIM2), mRNA. hschrX: 48669353-48669413 A 16 P21465590 refNM O17602 ref Homo sapiens OTU domain containing 5 (OTUD5), mRNA. hschrX: 48707898-48707948 A 14 P136799 refNM OO4979 reflomo sapiens potassium voltage gated channel, Shall-related Subfamily, member 1 (KCND1), mRNA. hschrX: 48716139-487161.99 A 14 P134628 entg|GRIPAP1 refNM O2O137 ref Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1 mRNA. hschrX: 48780269-48780329 A 16 P41671520 refNM 006521 reflomo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA. hschrX: 48804049-48804102 A 14 P129172 refNM 033626 reflomo sapiens coiled-coil domain containing 120 (CCDC120), mRNA. US 2012/0053062 A1 Mar. 1, 2012 38

TABLE 1-continued Chromosomal Agilent Gene Location Probe ID Sym Accession Description hSchrX: 48815768-48815821 A 14 P121088 entg|PRAF2 refNM OO7213 ref Homo sapiens PRA1 domain family, member 2 (PRAF2), mRNA. hSchrX: 48822688-48822741 A 14 P130534 entgWDR45 refNM 001029896 ref Homo sapiens WD repeat domain re 45 (WDR45), transcript variant 2, NM 007075 mRNA. hSchrX: 4886O125-4886O182 A 16 P41671742 entg|GPKOW refNM O15698 reflomo sapiens G patch domain and KOW motifs (GPKOW), mRNA. hSchrX: 48907774-48907834 A 14 P102088 entg|MAGIX refNM 024859 ref Homo sapiens MAGI family member, X-linked (MAGIX), mRNA. hSchrX: 48.917891-48917951 A 14 P111766 entg|PLP2 refNM 002668 reflomo sapiens proteolipid protein 2 (colonic epithelium-enriched) (PLP2), mRNA. hSchrX: 48922105-48.922157 A 14 P104.048 entg|LMO6 refNM OO6150 ref Homo sapiens LIM domain only 6 (LMO6), mRNA. hSchrX: 48.931721-48.931766 A 14 P118756 entg|SYP refNM OO3179 reflomo sapiens synaptophysin (SYP), mRNA. SchrX: 489SO714-489SO774 A 16 P21466170 entg|CACNA1F refNM 005183 reflomo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA. hSchrX: 4898.1071-48981131 A 14 P119323 entg|CCDC22 refNM O14008 reflomo sapiens coiled-coil domain containing 22 (CCDC22), mRNA. hSchrX: 48998290-48998348 A 16 PO3703270 entgFOXP3 refNM O14009 ref Homo sapiens forkhead box P3 (FOXP3), mRNA. hSchrX: 490.15453-490.15508 A 16 PO3703298 entg|PPP1R3F refNM 033215 reflomo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 3F (PPP1R3F), mRNA. SchrX: S8.18687-5818747 A 14 P132284 entgNLGN4X refNM 020742 reflomo sapiens neuroligin 4, X refNM 181332 linked (NLGN4X), transcript variant 1, mRNA. hSchrX: 746561.64-74656.224 A 16 P21497890 entgZDHHC15 refNM 144969 reflomo sapiens Zinc finger, DHHC-type containing 15 (ZDHHC15), mRNA. SchrX: 928.12815-928.12875 A 14 P102722 entgNAP1L3 refNM OO4538 reflomo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA. SchrX: 92816SSS-92816615 A 16 P41728873 entgFAM133A refNM 173698 ref Homo sapiens family with sequence similarity 133, member A (FAM133A), mRNA. Schiry: 15146520-15146571 A 16 P21662698 entgNLGN4Y refNM O14893 reflomo sapiens neuroligin 4, Y linked (NLGN4Y), mRNA. Schiry: 2715687-2715747 A 16 P418.55990 entg|SRY refNM 003140 reflomo sapiens sex determining region Y (SRY), mRNA. Schiry: 2771454-2771510 A 16 PO3797050 entg|RPS4Y1 refNM 001008 reflomo sapiens ribosomal protein S4, Y-linked 1 (RPS4Y1), mRNA. Schiry: 28.68107-2868167 A 16 P41856247 entg|ZFY refNM OO3411 reflomo sapiens Zinc finger protein, Y-linked (ZFY), mRNA.

TABLE 2

CHROMOSOMAL ASSOCIATED GENENAME GEN BANKID LOCATION CONDITION Chromosome 1

AGL GDB: 132644 1p21-1p21 GLYCOGEN STORAGE DISEASE III ALDH4A1 GDB: 9958827 1p36-1p36 HYPERPROLINEMIA, TYPE II CHS GDB: 45682O2 1q42.1-1 q42.2 CHEDIAK-HIGASHISYNDROME; CHS1 CRB GDB: 333930 1q31-1q32.1 RETINITIS PIGMENTOSA-12; RP12 F5 GDB: 1198.96 1q21-1q25 1923-1q23 FACTORVDEFICIENCY GBA GDB: 119262 1q21-1q21 GAUCHERDISEASE, TYPE I: GDI KIF1B GDB: 12864.5 1p36-1p36 CHARCOT-MARIE-TOOTH DISEASE, 1p36.22-1p36.22 NEURONALTYPE, A CMT2A Chromosome 2

AHHR GDB: 118984 2pter-2a31 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1: CYP1A1 US 2012/0053062 A1 Mar. 1, 2012 39

TABLE 2-continued

CHROMOSOMAL ASSOCIATED GENENAME EN BANKID LOCATION CONDITION DYSF D : 340831 MUSCULAR DYSTROPHY, LIMB GIRDLE, TYPE 2B: LGMD2B MUSCULAR DYSTROPHY, LATE ONSET DISTAL IGKC : 120088 2p12-2p12 2p11.2-2p11.2 IMMUNOGLOBULINKAPPA CONSTANT REGION; IGKC : 2O2968 2p16.3-2p16.3 SOLUTE CARRIER FAMILY 3, 2p21-2p21 MEMBER 1: SLC3A1 CYSTINURIA: CSNU HOXD13 : 127225 2a31-2a31 HOMEO BOX-D13; HOXD13 Chromosome 3

ACAA1 G : 119643 PEROXISOMAL 3-OXOACYL COENZYMEATHIOLASE DEFICIENCY : 604021 CHARCOT-MARIE-TOOTH DISEASE, NEURONALTYPE, B: CMT2B B: 38.442 GLYCOGEN STORAGE DISEASE IV R 1999S SOLUTE CARRIER FAMILY 2, MEMBER2; VHL 20488 VON HIPPEL-LINDAUSYNDROME; VHL Chromosome 4

GNPTA B: MUCOLIPIDOSIS II; ML2: ML II IDUA R MUCOPOLYSACCHARIDOSIS TYPE I: MPS SGCB 4q12-4q12 MUSCULAR DYSTROPHY, LIMB GIRDLE, TYPE 2E; LGMD2E WHCR 4p16.3-4p16.3 WOLF-HIRSCHHORNSYNDROME; WHS Chromosome 5

D B: 20600 COLONYSTIMULATING FACTOR-1 RECEPTOR, CSF1R F12 19892 HAGEMAN FACTORDEFICIENCY GM2A 2OOOO TAY-SACHS DISEASE, ABVARLANT HEXB 193O8 SANDHOFF DISEASE LGMD1A 18832 MUSCULAR DYSTROPHY, LIMB GIRDLE, TYPE 1A: LGMD1A SMN1 D B: SPINAL MUSCULARATROPHY I; SMAI SURVIVAL OF MOTOR NEURON 1, TELOMERIC, SMN1 32445 5p15.3-5p15.3 SOLUTE CARRIER FAMILY 6, MEMBER3; SLC6A3 Chromosome 6

AS B: 35697 p21.3-6p21.3 ANKYLOSING SPONDYLITIS; AS EJM1 19864 p21.1-6p11 MYOCLONICEPILEPSY, JUVENILE: p21.2-6q13 EJM1 FANCE 22O236 p22-6p21 FANCONIANEMIA, COMPLEMENTATION GROUP E; FACE IDDM1 6p21.3-6p21.3 DIABETES MELLITUS, JUVENILE ONSET INSULIN-DEPENDENT: IDDM NEU1 NEURAMINIDASE DEFICIENCY

PKHD1 : 433910 POLYCYSTIC KIDNEY AND HEPATIC DISEASE-1; PKHD1 SCA1 : 119588 SPINOCEREBELLARATAXIA 1: SCA1 TNDM : 995626S DIABETES MELLITUS, TRANSIENT NEONATAL TNF : 120441 6p21.3-6p21.3 TUMORNECROSIS FACTOR: TNF Chromosome 7

AASS : 11502144 HYPERLYSINEMLA CCM1 D : S80824 CEREBRAL CAVERNOUS MALFORMATIONS 1; CCM1 : 9953232 CHARCOT-MARIE-TOOTH DISEASE, NEURONALTYPE, D US 2012/0053062 A1 Mar. 1, 2012 40

TABLE 2-continued

CHROMOSOMAL ASSOCIATED GENENAME EN BANKID LOCATION CONDITION GUSB D : 120O2S 1.21-7q11.22 MUCOPOLYSACCHARIDOSIS TYPE VII HOXA13 : 12O656 HOMEO BOXA13; HOXA13 LEP : 13642O LEPTIN; LEP SMAD1 : 3763345 PINAL MUSCULARATROPHY, STAL, WITH UPPER LIMB REDOMINANCE: SMAD1 ZWS1 G : 120511 1-7q11 : ELLWEGER SYNDROME; ZS Chromosome 8

ADRB3 : 2O3869 ETA-3-ADRENERGIC RECEPTOR; DRB3 ANK1 18737 SPHEROCYTOSIS, HEREDITARY HS 38755 HARCOT MARIE-TOOTH EUROPATHY4A, CMT4A 1991.3 28p11.2-8p11.1 CROCEPHALOSYNDACTYLYTYPE FIBROBLAST GROWTH FACTOR ECEPTOR-1; FGFR1 PLAT 19496 18p12-8p12 LASMINOGEN ACTIVATOR, SSUE: PLAT SGM1 35350 LIPPEL-FEIL SYNDROME; KFS: FM WRN G 284.46 WERNER SYNDROME: WRN

ABO ABO BLOOD GROUP; ABO DYT1 DYSTONLA 1, TORSION: DYT1 PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA MLLT3 : MYELOIDFLYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3; MLLT3 Chromosome 10 CUBN : 636049 Op12.1-10p12.1 MEGALOBLASTICANEMIA 1: MGA1 CYP2C9 : 13145S Oq24.1-10q24.1 CYTOCHROME P450, SUBFAMILY IC, POLYPEPTIDE 9; CYP2C9 SFTPA1 : 119593 PULMONARY SURFACTANT APOPROTEIN PSP-A, PSAP SIAL D : 65.49924 Opter-10q23 NEURAMINIDASE DEFICIENCY THC2 : 10794.765 Op12-10p11.1 THROMBOCYTOPENIA UROS : 128112 Oq25.2-10q26.3 PORPHYRIA, CONGENITAL ERYTHROPOIETIC; CEP Chromosome 11

ABCC8 : 59.1370 p15.1-11p15.1 SULFONYLUREA RECEPTOR; SUR PERSISTENTHYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY ATM : S93364 q22-11q23 ATAXIA-TELANGIECTASIA: AT q22.3-11q22.3 BSCL2 : 9963996 q13.1-11q13.5 SEIPSYNDROME q13.1-11q13.1 BWS : 120567 p15.5-11 p 15.5 ECKWITH-WIEDEMANN YNDROME: BWS : 98353O2 q13.2-11q13.5 MITH-LEMLI-OPITZ SYNDROME R : 98.62966 q23-11q23 s LYCOGEN STORAGE DISEASE Ib q23.3-11q23.3 IDDM2 : 128530 p15.5-11 p 15.5 DIABETES MELLITUS, INSULIN DEPENDENT, 2 DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT: IDDM INS B:: 119349 p15.5-11 p 15.5 INSULIN; INS SCAS : 378,219 p12-11q12 SPINOCEREBELLARATAXIA5; q13.1-11q13.3 SCAS SMPD1 : 128144 p15.3-11p15.3 NIEMANN-PICKDISEASE p15.4-11p15.4 Chromosome 12

AAAS : 99.54498 2d 13-12q13 GLUCOCORTICOID DEFICIENCY AND ACHALASIA US 2012/0053062 A1 Mar. 1, 2012 41

TABLE 2-continued

CHROMOSOMAL ASSOCIATED GENENAME EN BANKID LOCATION CONDITION ACVRL1 DB: 230240 2q11-12q14 OSLER-RENDU-WEBER SYNDROME 2qter 2: ORW2 ACTIVIN A RECEPTOR, .12-12q13.13 TYPE II-LIKE KINASE 1: ACVRL1 AOM : 118998 2q12-12q13.1 STICKLERSYNDROME, TYPE I: STL1 : 1045.0034 2p13.3-12p13.3 VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT IGF1 : 120081 2d22-12q23 INSULINLIKE GROWTH FACTOR1; IGF1 LDHB : 1201.47 2p12.2-12p12.1 LACTATE DEHYDROGENASE-B; 2p12.1-12p12.1 LDHB : 433739 2p13-12p13 ZELLWEGER SYNDROME; ZS PEROXISOME RECEPTOR1; PXR1 SMAL : 99.54506 2d24 SPINAL MUSCULARATROPHY, CONGENITAL NONPROGRESSIVE, OF LOWER LIMBS WDR : 1204.87 VITAMIND-RESISTANT RICKETS WITHEND-ORGAN UNRESPONSIVENESS TO 1.25 DIHYDROXYCHOLECALCIFEROL VITAMIND RECEPTOR, VDR : 11912S 2p13.3-12p13.2 VON WILLEBRAND DISEASE: VWD GG Chromosome 13 BRCA2 : 38,784.8 BREAST CANCER2, EARLY-ONSET; BRCA2 F10 : 1198.90 X, QUANTITATIVE VARIATION IN FACTORX DEFICIENCY; F10 MBS1 : 12836S MOEBIUSSYNDROME: MBS SLC10A2 R B: 677534 SOLUTE CARRIER FAMILY 1.0, MEMBER 2: SLC10A2 Chromosome 14

ARVD1 G : 371339 ARREHYTHMOGENICRIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1: ARVD1 BCH G : 118758 4q13.1-14q21.1 CHOREA, HEREDITARY BENIGN; BCHTHY ROID TRANSCRIPTION FACTOR1, TITF1 : 636176 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE, 5; DFNB5 MD : 1188.40 MACHADO-JOSEPH DISEASE: MJD MPD1 : 230271 MYOPATHY, LATE DISTAL HEREDITARY B: 120328 GLYCOGEN STORAGE DISEASE VI B: 2301.26 SPASTIC PARAPLEGLA-3, AUTOSOMAL DOMINANT, SPG3A USH1A : 118885 USHERSYNDROME, TYPE LA; USH1A Chromosome 15

ANCR : 119678 ANGELMAN SYNDROME BBS4 B: S11,199 BARDET-BIEDL SYNDROME, TYPE 4; BBS4 CDAN1 : 98.23267 5q15.1-15q15.3 DYSERYTHROPOIETICANEMLA, CONGENITAL, TYPE I CYP1A1 : 12O604 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1: CYP1A1 HEXA : 120040 TAY-SACHS DISEASE: TSD PWCR : 120325 PRADER-WILLISYNDROME WMS B: SS83902 -15q21.1 WEILL-MARCHESANISYNDROME Chromosome 16 LA3 G : 128453 6q22.1-16q22.1 CEREBELLARATAXIA, AUTOSOMAL DOMINANT PURE CEREBELLOPARENCEHYMAL DISORDER I; CPD I. CLN3 : 120593 6p12.1-16p12.1 CEROID-LIPOFUSCINOSIS, 6p12.1-16p11.2 NEURONAL3, JUVENILE: CLN3 FANCA : 701.221 6q24.3-16924.3 FANCONIANEMIA, COMPLEMENTATION GROUPA; FACA US 2012/0053062 A1 Mar. 1, 2012 42

TABLE 2-continued

CHROMOSOMAL ASSOCIATED GENENAME GEN BANKID LOCATION CONDITION GALNS GDB: 129085 6q24-16Q24 MUCOPOLYSACCHARIDOSIS TYPE IVA PKDTS GDB: 99.54545 6p13.3-16p13.3 POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKD1 GDB: 12O293 6p13.3-16p13.3 POLYCYSTIC KIDNEYS POLYCYSTIC KIDNEY DISEASE 1: PKD1 SLC12A3 GDB: 642135 6q13-16Q13 SOLUTE CARRIER FAMILY 12, MEMBER3; SLC12A3 Chromosome 17

ACACA GDB: 120534 7q21-17q21 ACETYL-CoA CARBOXYLASE 7q12-17q12 DEFICIENCY ASPA GDB: 231014 7 pter-17p13 SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM CMT1A GDB: 119785 7p12-17p11.2 CHARCOT-MARIE-TOOTH DISEASE, 7p11.2-17p11.2 TYPE 1A: CMT1A NEUROPATHY, HEREDITARY WITH LIABILITY TO PRESSURE PALSIES: HINPP G6PC GDB: 231927 7q21-17q21 GLYCOGEN STORAGE DISEASE I: GSD-I GH1 GDB: 119982 7q22-17q24 GROWTH HORMONE 1: GH1 7q23.1-17q23.3 MGI GDB: 99545SO 7p13-17p13 MYASTHENIA GRAVIS, FAMILIAL INFANTILE: FIMG MYO15A GDB: 98.38006 7p11.2-17p11.2 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE, 3: DFNB3 NAGLU GDB: 636533 7q21.1-17q21.1 MUCOPOLYSACCHARIDOSIS TYPE IIIB NF1 GDB: 120231 7q11.2-17q11.2 NEUROFIBROMATOSIS, TYPE I: NF1 PMP22 GDB: 134190 7p11.2-17p11.2 CHARCOT-MARIE-TOOTH DISEASE, 7p12-17p11.2 TYPE 1A: CMT1A HYPERTROPHIC NEUROPATHY OF DEERINE SOTTAS PERIPHERAL MYELIN PROTEIN 22; PMP22 SLC2A4 GDB: 119997 7p13-17p13 SOLUTE CARRIER FAMILY 2, MEMBER4; SLC2A4 SMCR GDB: 120379 7p11.2-17p11.2 SMITH-MAGENIS SYNDROME: SMS Chromosome 18

F5F8D GDB: 69.19858 8q21-18q21 FACTORVAND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D NPC1 GDB: 138178 8q11-18q11 NIEMANN-PICK DISEASE, TYPE C1; NPC TGIF GDB: 97871SO 8p11.3-18p11.3 HOLOPROSENCEPHALY, TYPE 4: HPE4 CORD1 GDB: 118773 8q21.1-18q21.3 CONE-ROD DYSTROPHY-1; CORD1 Chromosome 19

APOC2 GDB: 11.9689 9q13.2-19q13.2 APOLIPOPROTEIN C-II DEFICIENCY, TYPEIHYPERLIPOPROTEINEMIA DUETO DBA GDB: 96.OO3S3 9q13.2-19q13.2 ANEMLA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND DFNA4 GDB: 606540 9q13-19q13 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL, 4; DFNA4 EPOR GDB: 125242 9p13.2-19p 13.2 ERYTHROPOIETIN RECEPTOR; EPOR MDRV GDB: 6306714 9p13.3-19p13.3 MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMEDVACUOLES: MDRV NPHS1 GDB: 3421 OS 9q12-19q13.1 NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1 OPA3 GDB: 9954590 9q13.2-19q13.3 OPTIC ATROPHY, INFANTILE, WITH CHOREA AND SPASTIC PARAPLEGLA SLC7A9 GDB: 99588S2 9q13.1-19q13.1 CYSTINURIA TYPE III, CSNU3 STK11 GDB: 9732383 9p13.3-19p13.3 PEUTZ-JEGHERS SYNDROME SERINETHREONINE PROTEIN KINASE 11; STK11 US 2012/0053062 A1 Mar. 1, 2012 43

TABLE 2-continued

CHROMOSOMAL ASSOCIATED GENENAME GEN BANKID LOCATION CONDITION Chromosome 20

CDPD1 GDB: 11505748 20p13-20p13 DYSTROPHY AND PERCEPTIVE DEAFNESS HNF4A GDB: 393281 20g 12-20d 13.1 DIABETES MELLITUS, AUTOSOMAL DOMINANT TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14 PRNP GDB: 12O720 20pter-20p12 GERSTMANN-STRAUSSLER DISEASE: GSD PRION PROTEIN; PRNP NBLA1 GDB: 42S2819 20p13-20p12.3 HALLERVORDEN-SPATZ, DISEASE Chromosome 21

CBS GDB: 1197.54 21q22.3–21q22.3 HOMOCYSTINURIA DCR GDB: 1253S4 21q22.2-21q22.3 TRISOMY 21 KNO GDB: 4O73O44 21q22.3–21q22.3 KNOBLOCH SYNDROME; KNOAMYOTROPHICLATERAL SCLEROSIS SOD1 GDB: 119596 21q22.1-21q22.1 SUPEROXIDE DISMUTASE-1; SOD1 MUSCULARATROPHY, PROGRESSIVE, WITH AMYOTROPHICLATERAL SCLEROSIS Chromosome 22 CECR GDB: 119772 22pter-22q11 CAT EYE SYNDROME; CES CYP2D7P1 GDB: 119832 22d 13-22d 13 CYTOCHROME P450, SUBFAMILY 22d 13.1-22q13.31 IID: CYP2D DGCR GDB: 119843 22d 11.21-22q11.23 DIGEORGESYNDROME: DGS GGT1 GDB: 120623 22q11.2-22d 12.1 GLUTATHIONURIA SLCSA1 GDB: 120375 22d 13.1-22q13.1 SOLUTE CARRIER FAMILY 5, 22d 12.3-22d 13.1 MEMBER 1: SLC5A1 22d 12.3-22d 12.3 PRODH GDB: 52.151.68 22q11.2-22d 11.2 HYPERPROLINEMIA, TYPE I Chromosome X

ADFN GDB: 118977 Xq25-Xq26 ALBINISM-DEAFNESS SYNDROME; ADFN: ALDS AHDS GDB: 125899 Xq21.1-Xq21.1 MENTAL RETARDATION, X Xq21-Xq21 LINKED, WITH HYPOTONIA AVPR2 GDB: 131475 Xq28-Xq28 DIABETES INSIPIDUS, NEPHROGENIC BFLS GDB: 120566 Xq26-Xq27.1 BORJESON SYNDROME: BORT CMTX2 GDB: 128311 Xp22-Xp22 CHARCOT MARIE-TOOTH NEUROPATHY,X-LINKED RECESSIVE, 2; CMTX2 CPX GDB: 120598 Xq21.3-Xq22 CLEFT PALATE, X-LINKED; CPX Xq21.3-Xq21.3 DMD GDB: 11985O Xp21.3-Xp21.2 MUSCULAR DYSTROPHY, Xp21.2-Xp21.2 PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER F9 GDB: 119900 Xq26.3-Xq27.1 HEMOPHILIA B; HEMB Xq27.1-Xq27.2 KAL1 GDB: 12O116 Xp22.32-Xp22.32 KALLMANN SYNDROME 1: KAL1 MID1 GDB: 9772232 Xp22-Xp22 OPITZSYNDROME Xp22.3-Xp22.3 MRX20 GDB: 217OSO Xp11.3-Xp11.23 MENTAL RETARDATION, X-LINKED 20; MRX20 PGS GDB: 128372 Xq25-Xq27 DANDY WALKERMALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIADISEASE, SMAX2 GDB: 99.54643 Xp-Xp SPINAL MUSCULARATROPHY, X LINKED LETHAL INFANTILE WWS GDB: 120497 Xq11-Xq22 WIEACKERSYNDROME

0045. It is understood that the examples and embodiments within the spirit and purview of this application and scope of described herein are for illustrative purposes only and that the appended claims. All publications, patents, and patent various modifications or changes in light thereofwill be Sug applications cited herein as well as all accession numbers, gested to persons skilled in the art and are to be included Agilent probe IDs and GenBank IDs, particularly those ref US 2012/0053062 A1 Mar. 1, 2012 44 erenced in Tables 1 and 2, are hereby incorporated by refer lysate was then aliquoted into 1.2 mL aliquots and frozen for ence in their entirety for all purposes. future use. A 1.2 mLaliquot of cell lysate prepared above was pipetted into a clean 2 mL tube and an automated process for EXAMPLES DNA extraction was employed on the Qiagen Symphony DX 0046. In order to identify conserved regions of cell free or instrument to separate the DNA. free floating DNA offetal origin in maternal whole blood the following experimental design was employed. The culmina Example 2 tion of the process described below has yielded both regional Characterization of Conserved Free Floating DNA and sequence specific targets that are used for the identifica Sequences tion offetal DNA in the context of maternal DNA. The experi mental process has four major components including: (1) 0049. A subtractive hybridization approach was utilized to gentle lysis of maternal whole blood DNA and size specific identify fetal specific sequences in DX lysed, size fractionated bead-based DNA extraction, (2) fetal DNA enrichment and free floating DNA. Briefly, the subtractive hybridization detection using size selection and digital PCR, (3) subtractive approach requires that two CGH arrays be run for each clini hybridization of maternal, fetal fractionated and fetal DNA cal case. The first array analyzes maternal DNA against fetal using array CGH to identify conserved genomic regions in DNA (a product of conception) to identify differences in fetal cell free fetal DNA and (4) target specific next generation genomic DNA. The second array analyzes maternal DNA sequencing to identify condition/disease related loci for diag against enriched free floating fetal DNA (a product of mater nostic assay development. nal whole blood) to identify regions present in free floating fetal DNA. A comparative analysis of unique fetal segments Example I from both arrays identifies regions of conservation in free floating fetal DNA samples in each case analyzed. By follow Dx Lysis for Fetal DNA Extraction ing this hybridization scheme in we can confirm which 0047. Isolation of free floating fetal DNA from whole sequences are present in the free floating fetal DNA fraction blood presents unique challenges. The two confounding Vari when compared to the entire fetal genome. This is the first ables in maximizing the yield offetal DNA from whole blood step in the conserved sequence identification process. is the selective lysis and disaggregation of target specific cells 0050. Differences in the free floating fetal genome relative and DNA in order to efficiently extract them in the back to intact maternal and fetal DNA were identified by array ground of maternal genomic DNA. To accomplish this task a CGH analysis using microarray slides, which contain 244000 buffer and protocol that accomplishes two critical goals was (244 K) and one million (1x1 M) oligonucleotide probes formulated. First, the gentle lysis procedure selectively lyses (Agilent Technologies, Santa Clara, Calif., USA). cells that are not in their optimal growth environment (i.e. 0051. For sample preparation and hybridization we have fetal trophoblasts) allowing for the release of nucleic acid followed the protocol developed and described in detail by from this cells that are otherwise not present in the non Agilent. Briefly, genomic DNA was extracted from as cellular DNA fraction and secondly disaggregate small DNA described above. The integrity of DNA was confirmed with molecules that are not available for efficient extraction in its nanodrop and agarose gel electrophoresis. For array CGH normal state. This lysis buffer and procedure increases the without WGA, we used 2.5 lug of fetal DNA and 2.5 lug of yield offetal DNA in any given maternal whole blood sample maternal DNA for each analysis. DNA was digested with Rsa by approximately 15%. Following lysis an automated process I and Alu I and labeled by random priming using either for DNA extraction was employed on the Qiagen Symphony Cy5-dUTP or Cy3-dUTP. Following purification with Micro DX instrument. This instrument utilizes bead based chemistry con Centrifugation Filters, Ultracel YM-30 (Millipore, Bil to extract high quality DNA from whole blood (or in this case lerica, Mass., USA), probes were denatured and pre-annealed gently lysed produced) samples. The chemistry being used with 50 g of human Cot-1 DNA (Invitrogen, Burlington, for extraction was modified to work in concert with the DX Ontario, Canada). Hybridization was performed at 65° C. for lysed product and is optimized to preferentially isolate 40 h with constant rotation. “small DNA products over high molecular weight genomic 0052. After hybridization, slides were washed according DNA species. This led to an enrichment offetal DNA in each to the manufacturer's instructions and scanned immediately sample when compared to standard practice for DNA extrac with a DNA Microarray Scanner (Agilent Technologies). tion which is critical to maximize detection of mutations that Data were extracted from Scanned images using Feature are fetal specific. Extraction software, version 10.7.3.1 (Agilent). The text files 0048 Briefly, samples consist of 8 mL to 10 mL of whole were then imported for analysis into Genomic Workbench, blood in an ACD tube. The samples were stored at 2-8°C. standard edition 5.0.14 (Agilent). We used the reference and were processed within 8 hours of receipt. The ACD tubes maternal DNA to identify DNA copy number aberrations. were gently inverted three times to mix the blood and 10 mL The algorithm used identifies all aberrant intervals in a given of whole blood is then removed and placed in a clean 15 mL sample with consistently high or low log ratios based on the conical-bottom tube. The BioDX 20 buffer (0.32M sucrose, 5 statistical score. It then samples adjacent probes to arrive atan mM MgCl, 3% Triton X-100, Saponin 0.1%, 10 mM Tris estimation of the true range of the aberrant segment (aberrant HCl, pH 7.3) was then added at 10% by volume, for example, being under represented as is the case with fetal fractionated for 10 mL of blood, 1 mL of buffer was added. The tubes were samples). The statistical score represents the deviation of the then inverted at least 4 times and centrifuged at 3000 rpm for average of the log ratios from the expected value of Zero, in 5 minutes to separate the liquid layer from the lysed cell units of standard deviation. The algorithm searches for inter debris at the bottom of the tube. The top liquid layer of cell vals in which a statistical score based on the average quality lysate was then removed to a second clean 15 mL conical weighted log ratio of the sample and reference channels bottom tube taking care to not distrust the cell debris later. The exceeds a user specified threshold. We applied a filtering US 2012/0053062 A1 Mar. 1, 2012 option of minimum of 5 probes in region and minimum abso data alignments and reports the genotype at all dbSNP130 on lute average log 2 ratio>0.3. USCS human genome assembly the depth of coverage and improved concordance rates with hg18 was used as a reference and copy number variations other genotyping platforms (e.g. illumina HumanOmni 1 mil (CNV) were identified with a database integrated in the Agi lion SNP chip) from 96% to >99%. The primary sequencer lent Genomic Workbench analytic software. output is in *.bclbinary files (base calls per cycle) which are 0053. During analysis with CGH analytics software, the converted to complete reads with quality scores (*.dseq files sensitivity threshold was 6.0 and the moving average window or quality and sequence files) each read and a third for the was 1 Mb. In order to determine that there was a change in a indexing read pertile. This is a necessary but relatively quick particular locus, three criteria must have been met. These process and was done using the BCL converter provided with were positive call by the software, presence of 10 consecutive the Software package. The 32 qseq files/lane were then con probes pointing out the same direction, and 1.5-fold average verted to fastd (text-based format for storing nucleotide fold difference in the test DNA compared to the reference sequence) as they undergo demultiplexing into their indi normal DNA. vidual sample data and combined into 2 files per sample, one for each read of the paired run. Files were given unique names Example 3 according to the convention sampleID flowcellID laneh readii.fastd so that sample data collected on different runs NextGen Sequencing and/or different lanes can be placed at the same file structure 0054. In order to fully understand the length and fidelity of level. Once all the runs/lanes scheduled to contain data for a sequence identified by array CGH this NextGeneration given sample have been demultiplexed the reads were aligned sequencing approach is employed to validate and finally map to the reference genome, chosen through the web interface for conserved loci in the free floating fetal genome. The loci each sample. We used the Burrows-Wheeler Transform sequenced are derived from the conserved probed sequences method implemented in the BWA (Burrows-Wheeler Align identified with array CGH described above. Briefly, the con ment) package which we find as having better performance served probe sequences identified to be present in free float than other aligners we have tested (ELAND, Bowtie, Zoom, ing fetal DNA were used as “bait to create the capture MAQ) in terms of quality of alignments, number of reads libraries used for sequencing the entire segments of con aligned and capacity to open gaps. Upon alignment request served free floating fetal DNA. The extent of natural genomic .fastc files are split into 10M reads chunks and a BWA process variation between individuals creates an additional problem is spawned on the cluster. Each instance of BWA produces an when predicting conservation of fetal DNA between indi alignment in SAM format and all SAM files for single viduals. Hence, it is prudent to have available constitutional samples are concatenated into a final alignment result file for (“normal) DNA as well as fetal DNA from the same indi that sample with a unique naming following the convention vidual as a potential reference, in this instance it is maternal sampleID flowcellID lanei.sam. DNA. For DNA analysis, a targeted sequencing approach 0056 Collectively, these methods have identified 67,848 using paired end genomic libraries was used. Sequence cap conserved regions across 30 different independent subjects ture of conserved array CGH was performed by solution and correlated the conserved regions to 157 unique disease hybridization and recovered using the Agilent SureSe mutations. Furthermore, the methods have identified 70% of lectXTTM system. The bait for the 30 target genes selected for prenatal markers currently used in standard genetic analysis this application covers all conserved fetal regions and the and conserved regions across the entire genome providing for flanking 10 bp for interrogating splice? donor/acceptor sites novel targets of investigation. 0057 The vast amount of data uncovered from the meth and branch site mutations, and was designed using Agilent's ods of the current invention are useful in targeted diagnostics eArray https://earray.chem.agilent.com/earray. by identifying targets for assay development, global screens 0055. In brief isolated DNA was sheared to a target size of to explore the cell free fetal DNA genome as a screening tool 150-200bp with a Covaris AFA instrument, purified with for early risk assessment, as well as for “follow up' diagnos Agencourt AMPureTM XP beads, and quantified using tics employing cell free fetal DNA as a tool for postnatal cuvetteless spectroscopy and quality determined with the analysis. Agilent 2100 bioanalyzer. The DNA ends are blunt-ended with T4 polymerase, repurified and modified by 3' addition of 1. A method of detecting the presence of fetal DNA in a an A nucleotide. Following one more round of bead purifica biological sample of a maternal host of a fetus comprising tion, bar-coded paired-end adapters were ligated to the DNA identifying the genotpye of at least one conserved seg fragments which are then PCR amplified for five cycles using ments provided in Table 1 in the biological sample of the the SureSelectTM Indexing Pre-Capture PCR (reverse) maternal host; primer. After another purification round, the libraries were comparing the genotype with a corresponding maternal hybridized to biotinylated bait in solution and recovered on genotype; streptavidin-coated paramagnetic beads. Hybridization was wherein a genoptype different from the corresponding carried out in the presence of oligonucleotide blockers maternal genotype indicates the presence of fetal DNA complementary to minimize the formation of chains or circles of the fetus. which can potentially reduce enrichment levels. Genomic 2. The method of claim 1, wherein the biological sample is fragments were index tagged by post-hybridization amplifi a biological sample of the maternal host enriched for fetal cation and pooled in equimolar concentrations for balanced DNA. sequencing. Sequencing was done with paired 100bp read at 3. The method of claim 1, wherein the biological sample is a density of about 700 clusters/mm. All sequence analysis enriched for fetal DNA via DNA size fractionation. and mutation detection was performed using commercially 4. The method of claim 1, wherein the biological sample is available software (e.g. SeqNext, NextGene, ZOOM, MAQ). a sample of cell free DNA from the whole blood of a maternal These approaches were used to Verify the primary sequence host. US 2012/0053062 A1 Mar. 1, 2012 46

5. The method of claim 1, wherein the genotype is SNP, 13. The method of claim 8, wherein the genetic marker is RFLP, STR, DNA sequence, or a combination thereof. associated with trisomy and within the chromosomal loca 6. The method of claim 1, wherein the genotype is a group tions selected from the group consisting of X21.2-Xp21.1, of at least 50 SNPs. 17q11.2-17q11.2, 3p26-3p25, 5q13-5q13, 16q24.3-16cq24.3, 7. The method of claim 1, wherein the biological sample is 1q24.2-1q23 and 11q22-11q23. a sample enriched for fetal DNA and wherein the correspond 14. The method of claim 8, wherein the genetic marker is ing maternal genotype is determined using a maternal cell within a chromosomal location on chromosomal 13, 14, 15. sample. 16, 18, 21, 22, X and orY. 15. A method for selecting a genetic marker for determin 8. A method of detecting the presence or absence of a ing a genetic condition of a fetus in a biological sample of a genetic condition in a fetus comprising maternal host of the fetus comprising detecting in a biological sample obtained form a maternal identifying a group of genetic markers associated with the host of the fetus the presence or absence of a genetic genetic condition to be determined for the fetus in the marker for the genetic condition; biological sample of the maternal host; wherein the genetic marker is within a chromosomal loca identifying within the group of genetic markers a Subset of tion conserved in cell free fetal DNA in the biological genetic markers that are within one or more chromo sample of the maternal host; Somal locations conserved in cell free fetal DNA in the wherein the chromosomal location is selected from the biological sample of the maternal host; selecting a Subset of genetic markers for assay testing and group consisting of the chromosomal locations listed in determining the genetic condition of the fetus based on Table 2; and results obtained from the assay testing. wherein the presence or absence of the genetic marker 16. A database in a computer readable medium comprising indicates the presence or absence of the genetic condi conserved genomic segments provided in Table 1, wherein tion in the fetus. the database is searchable based on an identifier for each 9. The method of claim 8, wherein the biological sample is conserved genomic segment provided in Table 1. a biological sample of the maternal host enriched for fetal 17. A database in a computer readable medium comprising DNA. chromosomal locations provided in Table 2, wherein the data 10. The method of claim 8, wherein the biological sample base is searchable based on an identifier for each chromo is confirmed for the presence of fetal DNA. somal location provided in Table 2. 11. The method of claim 8, wherein the genetic marker is a 18. An array of probes useful for detecting at least one combination of a first genetic marker from a first chromo conserved genomic segments provided in Table 1. somal location conserved in cell free fetal DNA and a second 19. An array of probes useful for detecting at least one genetic marker from a second chromosomal location con chromosomal location provided in Table 2. served in cell free fetal DNA wherein the first and second 20. The array of claim 18, useful for detecting the genotype chromosomal location are different. of at least one conserved genomic segments provided in Table 12. The method of claim 8, wherein the genetic marker is 1. associated with spinal muscular atrophy and the chromo somal location is 5q13-5q13.