Tumor Gene Chromosome Coordinate Variant Hgvsc Hgvsp ADAM29 4

Supplementary material J Clin Pathol

Supplementary table 1 : Genetic alterations identified in the four tumors analyzed.

Genetic alterations Tumor Gene Chromosome Coordinate Variant HGVSc HGVSp ADAM29 4 175899088 G>G/T NM_014269.4:c.2412G>T NP_055084.3:p.Arg804Ser ANKRD36 2 97833499 G>G/C NM_001164315.1:c.1628G>C NP_001157787.1:p.Gly543Ala CBX2 17 77757739 G>G/A NM_005189.2:c.497G>A NP_005180.1:p.Arg166Gln CDH1 16 68846080 C>C/T NM_004360.3:c.1051C>T NP_004351.1:p.Gln351Ter CDRT15 17 14139702 G>G/A NM_001007530.1:c.308C>T NP_001007531.1:p.Ala103Val CNIH3 1 224927032 A>A/T NM_152495.1:c.457A>T NP_689708.1:p.Met153Leu CTBP2 10 126686682 A>A/T NM_022802.2:c.2036T>A NP_073713.2:p.Ile679Asn CTBP2 10 126686692 C>C/T NM_022802.2:c.2026G>A NP_073713.2:p.Asp676Asn CX3CR1 3 39307802 C>C/T NM_001171174.1:c.295G>A NP_001164645.1:p.Asp99Asn FAM8A1 6 17601058 G>G/A NM_016255.2:c.418G>A NP_057339.1:p.Ala140Thr FOXC1 6 1611802 G>G/GGGC NM_001453.2:c.1139_1141dupGCG NP_001444.2:p.Gly380dup GBE1 3 81698058 C>C/T NM_000158.3:c.640G>A NP_000149.3:p.Ala214Thr HAUS4 14 23421618 A>A/C NM_017815.2:c.249T>G NP_060285.2:p.Ile83Met HES4 1 935076 T>T/A NM_001142467.1:c.278A>T NP_001135939.1:p.Lys93Ile HOMEZ 14 23745840 C>C/G NM_020834.2:c.597G>C NP_065885.2:p.Gln199His ICAM5 19 10404565 G>G/A NM_003259.3:c.1657G>A NP_003250.3:p.Glu553Lys IL32 16 3119297 C>C/CG NM_004221.4:c.514dupG NP_004212.4:p.Asp172GlyfsTer12 IQSEC2 X 53264161 G>G/A NM_001111125.2:c.3707C>T NP_001104595.1:p.Ser1236Phe IVL 1 152883493 T>T/A NM_005547.2:c.1220T>A NP_005538.2:p.Val407Glu KIR2DL1 19 55284986 C>C/G NM_014218.2:c.272C>G NP_055033.2:p.Thr91Arg KMT2C 7 151962265 C>C/T NM_170606.2:c.1042G>A NP_733751.2:p.Asp348Asn KRT8 12 53298648 G>G/A NM_001256282.1:c.202C>T NP_001243211.1:p.Arg68Ter KRT8 12 53298675 A>A/C NM_001256282.1:c.175T>G NP_001243211.1:p.Ser59Ala MAGED2 X 54836575 G>G/C NM_177433.1:c.466G>C NP_803182.1:p.Glu156Gln MST1L 1 17085006 C>C/T NM_001271733.1:c.1469G>A NP_001258662.1:p.Gly490Glu MST1L 1 17087541 GGTGCT>GGTGCT/G NM_001271733.1:c.119_123delAGCAC NP_001258662.1:p.Gln40ProfsTer18 MTCH2 11 47660294 C>C/T NM_014342.3:c.236G>A NP_055157.1:p.Cys79Tyr MUC12 7 100634922 G>G/A NM_001164462.1:c.1078G>A NP_001157934.1:p.Ala360Thr NFKBIZ 3 101568542 G>G/A NM_031419.3:c.70G>A NP_113607.1:p.Gly24Ser Primary breast

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

Primary breast OR2T35 1 248801778 A>T/T NM_001001827.1:c.782T>A NP_001001827.1:p.Leu261Gln tumor PDZD8 10 119134498 T>T/G NM_173791.3:c.241A>C NP_776152.1:p.Thr81Pro PFKM 12 48527121 A>A/G NM_001166686.1:c.664A>G NP_001160158.1:p.Thr222Ala PFKM 12 48534616 G>G/A NM_001166686.1:c.1516G>A NP_001160158.1:p.Val506Ile PHRF1 11 610711 G>G/A NM_020901.2:c.4624G>A NP_065952.2:p.Glu1542Lys PIK3R6 17 8726721 G>G/C NM_001010855.2:c.1609C>G NP_001010855.1:p.Gln537Glu PRB1 12 11506856 G>G/A NM_005039.3:c.181C>T NP_005030.2:p.Pro61Ser PRSS3,UBE2R2-AS1 9 33798529 C>C/G NM_007343.3:c.671C>G NP_031369.2:p.Thr224Ser PRUNE2 9 79324135 A>A/ATGACTGTTGCAGM_015225.2:c.3043_3054dupCTGCAACAGTCANP_056040.2:p.Leu1015_Ser1018dup RHOA 3 49405978 C>C/T NM_001664.2:c.160G>A NP_001655.1:p.Glu54Lys ROBO2 3 75986750 C>C/T NM_001128929.2:c.106C>T NP_001122401.1:p.Gln36Ter SIPA1L2 1 232650316 C>C/T NM_020808.3:c.770G>A NP_065859.3:p.Arg257His SLC23A2 20 4893567 G>G/T NM_203327.1:c.166C>A NP_976072.1:p.Leu56Ile SPHKAP 2 228882558 C>C/G NM_001142644.1:c.3012G>C NP_001136116.1:p.Lys1004Asn SRR 17 2218895 A>A/G NM_021947.1:c.41A>G NP_068766.1:p.Lys14Arg SSBP4 19 18542496 A>A/C NM_032627.4:c.475A>C NP_116016.1:p.Thr159Pro TBC1D29 17 28890301 G>G/A NM_015594.2:c.311G>A NP_056409.1:p.Ser104Asn TIGD6 5 149375086 C>C/T NM_030953.3:c.826G>A NP_112215.1:p.Glu276Lys TPRX1 19 48305819 C>C/G NM_198479.2:c.449G>C NP_940881.2:p.Arg150Pro TRIM6,TRIM6-TRIM34 11 5632482 C>C/G NM_001003818.2:c.1461C>G NP_001003818.1:p.Phe487Leu TYW1B 7 72081809 T>T/C NM_001145440.1:c.1634A>G NP_001138912.1:p.Gln545Arg USP5 12 6972416 G>G/C NM_001098536.1:c.1829G>C NP_001092006.1:p.Gly610Ala ZAN 7 100350330 C>C/A NM_003386.1:c.2602C>A NP_003377.1:p.Pro868Thr ZKSCAN1 7 99627887 G>G/T NM_003439.1:c.688G>T NP_003430.1:p.Glu230Ter ZNF260 19 37004920 C>C/G NM_001012756.2:c.1221G>C NP_001012774.1:p.Gln407His ZNF3 7 99669169 G>G/T NM_001278284.1:c.938C>A NP_001265213.1:p.Ala313Asp ZNF493 19 21607406 C>C/A NM_001076678.2:c.1945C>A NP_001070146.1:p.Gln649Lys ZNF595 4 86022 C>A/A NM_182524.2:c.627C>A NP_872330.1:p.Tyr209Ter ZNF717 3 75786035 G>G/GA NM_001128223.1:c.2738dupT NP_001121695.1:p.Ter915LeufsTer? ZNF92 7 64864361 G>G/T NM_152626.2:c.1334G>T NP_689839.1:p.Arg445Ile ADGRG4 X 135431135 A>A/C NM_153834.3:c.5270A>C NP_722576.3:p.Asp1757Ala AKNA 9 117124731 G>G/A NM_030767.4:c.1871C>T NP_110394.3:p.Pro624Leu ALG10B 12 38714929 A>G/G NM_001013620.3:c.1336A>G NP_001013642.1:p.Ile446Val

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

ANKRD44 2 197990689 G>G/A NM_001195144.1:c.334C>T NP_001182073.1:p.His112Tyr ARMC4 10 28250610 C>C/A NM_018076.2:c.1273G>T NP_060546.2:p.Asp425Tyr BCL6B 17 6928019 C>C/CCAG NM_181844.3:c.729_731dupCAG NP_862827.1:p.Ser244dup BPIFB4 20 31673898 C>C/T NM_182519.2:c.854C>T NP_872325.2:p.Thr285Met C12ORF29 12 88440676 G>C/C NM_001009894.2:c.712G>C NP_001009894.2:p.Val238Leu C4ORF22 4 81529518 T>C/C NM_001206997.1:c.365T>C NP_001193926.1:p.Ile122Thr CBX2 17 77757739 G>G/A NM_005189.2:c.497G>A NP_005180.1:p.Arg166Gln CDC27 17 45229253 T>T/G NM_001114091.1:c.1007A>C NP_001107563.1:p.Lys336Thr CDC27 17 45229254 T>T/G NM_001114091.1:c.1006A>C NP_001107563.1:p.Lys336Gln CDH1 16 68846080 C>C/T NM_004360.3:c.1051C>T NP_004351.1:p.Gln351Ter CDK11A 1 1638961 C>C/T NM_024011.2:c.1132G>A NP_076916.2:p.Glu378Lys CEP128 14 80963847 G>G/C NM_152446.3:c.3260C>G NP_689659.2:p.Pro1087Arg CEP44 4 175225452 G>A/A NM_001145314.1:c.439G>A NP_001138786.1:p.Gly147Ser CSMD3 8 113657433 C>C/T NM_198123.1:c.3215G>A NP_937756.1:p.Arg1072Lys CTDSP2 12 58217736 AGG>AGG/A NM_005730.3:c.639_640delCC NP_005721.3:p.Leu214HisfsTer24 CX3CR1 3 39307802 C>C/T NM_001171174.1:c.295G>A NP_001164645.1:p.Asp99Asn ESD 13 47354101 C>T/T NM_001984.1:c.569G>A NP_001975.1:p.Gly190Glu FER1L6,FER1L6-AS1 8 125015458 C>C/T NM_001039112.2:c.1571C>T NP_001034201.2:p.Ser524Leu FGD6 12 95604290 T>C/C NM_018351.3:c.770A>G NP_060821.3:p.Gln257Arg FGL1 8 17731961 G>A/A NM_004467.3:c.314C>T NP_004458.3:p.Pro105Leu GBP2 1 89575909 T>T/A NM_004120.4:c.1403A>T NP_004111.2:p.Asp468Val GRIN3B 19 1004740 T>T/C NM_138690.1:c.1240T>C NP_619635.1:p.Trp414Arg HAUS4 14 23421618 A>A/C NM_017815.2:c.249T>G NP_060285.2:p.Ile83Met HEYL 1 40092267 G>G/T NM_014571.3:c.899C>A NP_055386.1:p.Ser300Ter HLA-DRB5 6 32489939 T>C/C NM_002125.3:c.113A>G NP_002116.2:p.Gln38Arg HOMEZ 14 23745840 C>C/G NM_020834.2:c.597G>C NP_065885.2:p.Gln199His IL13RA2 X 114248386 GA>GA/G NM_000640.2:c.466delT NP_000631.1:p.Ser156LeufsTer6 KCNJ12 17 21319650 CGAG>CGAG/C NM_021012.4:c.1000_1002delGAG NP_066292.2:p.Glu334del KCNJ12 17 21319767 C>C/G NM_021012.4:c.1113C>G NP_066292.2:p.Ser371Arg KIR3DL2 19 55370581 T>T/A NM_006737.3:c.997T>A NP_006728.2:p.Ser333Thr KMT2D 12 49426460 A>G/G NM_003482.3:c.12028T>C NP_003473.3:p.Ser4010Pro KRT19 17 39684321 G>G/C NM_002276.4:c.179C>G NP_002267.2:p.Ala60Gly KRTAP4-7 17 39240661 C>G/G NM_033061.3:c.203C>G NP_149050.3:p.Thr68Ser

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

LRIT3 4 110790911 A>T/T NM_198506.4:c.1006A>T NP_940908.3:p.Met336Leu LYPD2 8 143833856 C>T/T NM_205545.1:c.14G>A NP_991108.1:p.Arg5Gln MAGED2 X 54836575 G>G/C NM_177433.1:c.466G>C NP_803182.1:p.Glu156Gln mars-08 10 45953767 A>G/G NM_145021.4:c.796T>C NP_659458.2:p.Tyr266His MUC16 19 9015382 C>C/T NM_024690.2:c.38206G>A NP_078966.2:p.Gly12736Ser MUC20 3 195452799 C>T/T NM_152673.2:c.812C>T NP_689886.2:p.Thr271Ile Bone MYO9A 15 72270565 A>A/C NM_006901.3:c.1791T>G NP_008832.2:p.Asn597Lys metastasis N/A 1 233518183 G>G/A NM_032435.2:c.2837G>A NP_115811.2:p.Arg946His NOTCH4 6 32191658 TAGC>TAGC/T NM_004557.3:c.45_47delGCT NP_004548.3:p.Leu16del NTN4 12 96131895 A>G/G NM_021229.3:c.613T>C NP_067052.2:p.Tyr205His OR2T35 1 248801592 C>C/T NM_001001827.1:c.968G>A NP_001001827.1:p.Gly323Asp OR9K2 12 55523586 AT>A/A NM_001005243.1:c.38delT NP_001005243.1:p.Leu13CysfsTer22 OTC X 38226617 G>G/A NM_000531.5:c.151G>A NP_000522.3:p.Glu51Lys OTOP3 17 72937851 G>A/A NM_178233.2:c.437G>A NP_839947.1:p.Arg146Gln PFKM 12 48534616 G>G/A NM_001166686.1:c.1516G>A NP_001160158.1:p.Val506Ile PFKM 12 48534652 C>A/A NM_001166686.1:c.1552C>A NP_001160158.1:p.Gln518Lys PGLYRP2 19 15582863 C>T/T NM_052890.3:c.1181G>A NP_443122.3:p.Arg394Gln PIK3CB 3 138417865 C>C/T NM_006219.2:c.1654G>A NP_006210.1:p.Glu552Lys PKD1L2 16 81161473G>G/GTACTGCCAAGCCTGGGGAAA2892.3:c.6241_6242insGCTTTCCCCAGGCTTGGCA NP_443124.3:p.Thr2081SerfsTer? PLD2 17 4720469 C>T/T NM_002663.4:c.1730C>T NP_002654.3:p.Thr577Ile PRR21 2 240982116 C>A/A NM_001080835.1:c.284G>T NP_001074304.1:p.Arg95Leu PRSS3 9 33797928 G>G/GCC NM_007343.3:c.473_474insCC NP_031369.2:p.Arg158SerfsTer11 PRSS3 9 33797930 GAC>GAC/G NM_007343.3:c.478_479delAC NP_031369.2:p.Thr160SerfsTer4 PTEN 10 89720804 ACTTT>ACTTT/A NM_000314.4:c.956_959delCTTT NP_000305.3:p.Thr319LysfsTer24 REPS1 6 139242207 T>T/C NM_031922.3:c.1393A>G NP_114128.3:p.Met465Val RFPL4B 6 112671015 C>C/G NM_001013734.2:c.105C>G NP_001013756.2:p.Ile35Met RHOA 3 49405978 C>C/T NM_001664.2:c.160G>A NP_001655.1:p.Glu54Lys ROBO2 3 75986750 C>C/T NM_001128929.2:c.106C>T NP_001122401.1:p.Gln36Ter SLC39A11 17 70645032 G>A/A NM_001159770.1:c.860C>T NP_001153242.1:p.Ala287Val SPHKAP 2 228882558 C>C/G NM_001142644.1:c.3012G>C NP_001136116.1:p.Lys1004Asn SPTA1 1 158631146 C>C/G NM_003126.2:c.2518G>C NP_003117.2:p.Glu840Gln SRR 17 2218895 A>A/G NM_021947.1:c.41A>G NP_068766.1:p.Lys14Arg TACC3 4 1729988 G>A/A NM_006342.2:c.859G>A NP_006333.1:p.Gly287Ser

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

TACC3 4 1732978 G>A/A NM_006342.2:c.1541G>A NP_006333.1:p.Gly514Glu TBC1D1 4 37903756 T>T/C NM_015173.3:c.40T>C NP_055988.2:p.Ser14Pro TLE2 19 3006534 C>C/T NM_003260.4:c.1384G>A NP_003251.2:p.Ala462Thr TNRC18 7 5396667 T>T/A NM_001080495.2:c.5074A>T NP_001073964.2:p.Arg1692Ter TP53 17 7576855 G>G/A NM_000546.5:c.991C>T NP_000537.3:p.Gln331Ter TRDMT1 10 17204187 G>G/A NM_004412.5:c.301C>T NP_004403.1:p.His101Tyr TRIM6,TRIM6-TRIM34 11 5632482 C>C/G NM_001003818.2:c.1461C>G NP_001003818.1:p.Phe487Leu UBE4B 1 10177591 CAG>CAG/C NM_001105562.2:c.1273_1274delGA NP_001099032.1:p.Asp425TyrfsTer70 VWF 12 6172202 T>C/C NM_000552.3:c.1451A>G NP_000543.2:p.His484Arg WFS1 4 6302519 G>A/A NM_006005.3:c.997G>A NP_005996.2:p.Val333Ile ZEB1 10 31810782 A>C/C NM_001174096.1:c.2522A>C NP_001167567.1:p.Gln841Pro ZNF469 16 88498221 C>T/T NM_001127464.1:c.4259C>T NP_001120936.1:p.Pro1420Leu ZNF543 19 57839150 A>A/G NM_213598.3:c.320A>G NP_998763.2:p.Gln107Arg ZNF717 3 75786035 G>G/GA NM_001128223.1:c.2738dupT NP_001121695.1:p.Ter915LeufsTer? ZNF717 3 75786337 G>G/T NM_001128223.1:c.2437C>A NP_001121695.1:p.Pro813Thr ZNF717 3 75790837 C>C/T NM_001128223.1:c.108G>A NP_001121695.1:p.Trp36Ter ABCC6 16 16302586 T>T/C NM_001171.5:c.793A>G NP_001162.4:p.Arg265Gly ADAM21 14 70924501 C>C/G NM_003813.3:c.285C>G NP_003804.2:p.Asp95Glu ADAMTSL3 15 84611367 G>G/C NM_207517.2:c.2137G>C NP_997400.2:p.Gly713Arg ADGRE3 19 14758168 G>G/A NM_032571.3:c.707C>T NP_115960.2:p.Ala236Val ADGRG4 X 135431135 A>A/C NM_153834.3:c.5270A>C NP_722576.3:p.Asp1757Ala ADGRL4 1 79392756 C>C/A NM_022159.3:c.898G>T NP_071442.2:p.Val300Leu AGAP4 10 46321905 G>G/A NM_133446.2:c.1450C>T NP_597703.2:p.Arg484Cys AGAP6 10 51748684 G>G/A NM_001077665.2:c.209G>A NP_001071133.2:p.Arg70Gln AGAP7P 10 51465650 C>T/T NM_001077685.2:c.806G>A NP_001071153.1:p.Arg269Gln AGAP9 10 48235892 C>C/T NM_001190810.1:c.659C>T NP_001177739.1:p.Pro220Leu AHNAK2 14 105411260 A>A/G NM_138420.2:c.10528T>C NP_612429.2:p.Ser3510Pro ANKRD44 2 197990689 G>G/A NM_001195144.1:c.334C>T NP_001182073.1:p.His112Tyr APOBEC3F 22 39441096 G>G/T NM_145298.5:c.322G>T NP_660341.2:p.Ala108Ser AQP7 9 33387047 T>T/G NM_001170.1:c.188A>C NP_001161.1:p.Lys63Thr ARHGEF5 7 144060286 A>A/G NM_005435.3:c.524A>G NP_005426.2:p.Asp175Gly ARID1B 6 157100396 G>G/GCGC NM_020732.3:c.1348_1350dupCCG NP_065783.3:p.Pro450dup ARL17A,LRRC37A2 17 44626347 T>T/C NM_001006607.2:c.3842T>C NP_001006608.2:p.Ile1281Thr

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

ARVCF 22 19965108 G>G/A NM_001670.2:c.1700C>T NP_001661.1:p.Ser567Leu ATAD3B 1 1431165 C>C/T NM_031921.4:c.1915C>T NP_114127.3:p.Pro639Ser BMS1 10 43292647 A>A/G NM_014753.3:c.1955A>G NP_055568.3:p.Lys652Arg BTBD11 12 107713240 G>G/A NM_001018072.1:c.523G>A NP_001018082.1:p.Ala175Thr C1ORF106 1 200880869 A>A/C NM_018265.3:c.1545A>C NP_060735.3:p.Arg515Ser CABLES2 20 60982118 G>G/C NM_031215.2:c.215C>G NP_112492.2:p.Pro72Arg CBX2 17 77757739 G>G/A NM_005189.2:c.497G>A NP_005180.1:p.Arg166Gln CD48 1 160650918 AC>AC/A NM_001256030.1:c.725delG NP_001242959.1:p.Gly242ValfsTer57 CDH1 16 68846080 C>C/T NM_004360.3:c.1051C>T NP_004351.1:p.Gln351Ter CDK11A 1 1638961 C>C/T NM_024011.2:c.1132G>A NP_076916.2:p.Glu378Lys CDRT15 17 14139702 G>G/A NM_001007530.1:c.308C>T NP_001007531.1:p.Ala103Val CEP57L1 6 109480562 T>T/C NM_001083535.1:c.913T>C NP_001077004.1:p.Trp305Arg CLCNKA 1 16355638 T>T/A NM_004070.3:c.1071T>A NP_004061.3:p.His357Gln CLEC18A 16 69988472 C>C/T NM_001136214.2:c.452C>T NP_001129686.1:p.Thr151Met CLEC18C 16 70211199 T>T/C NM_173619.2:c.272T>C NP_775890.2:p.Ile91Thr CLEC18C 16 70211370 C>C/G NM_173619.2:c.443C>G NP_775890.2:p.Thr148Ser CNDP1 18 72223591 G>G/GTGC NM_032649.5:c.58_60dupCTG NP_116038.4:p.Leu20dup CNTNAP3 9 39118205 G>T/T NM_033655.3:c.2132C>A NP_387504.2:p.Ser711Tyr CNTNAP3B 9 43822668 C>C/T NM_001201380.1:c.1222C>T NP_001188309.1:p.Leu408Phe CNTNAP3B 9 43876040 C>A/A NM_001201380.1:c.2132C>A NP_001188309.1:p.Ser711Tyr CR1L 1 207881557 A>A/G NM_175710.1:c.1363A>G NP_783641.1:p.Ile455Val CSMD3 8 113657433 C>C/T NM_198123.1:c.3215G>A NP_937756.1:p.Arg1072Lys CT45A5 X 134948078 C>C/T NM_001007551.3:c.247G>A NP_001007552.1:p.Gly83Arg CTAGE15 7 143270172 A>A/G NM_001008747.2:c.1262A>G NP_001008747.1:p.Glu421Gly CTBP2 10 126683151 C>C/T NM_022802.2:c.2287G>A NP_073713.2:p.Val763Met CTBP2 10 126683162 C>C/T NM_022802.2:c.2276G>A NP_073713.2:p.Arg759Gln CTDSP2 12 58217736 AGG>AGG/A NM_005730.3:c.639_640delCC NP_005721.3:p.Leu214HisfsTer24 CX3CR1 3 39307802 C>C/T NM_001171174.1:c.295G>A NP_001164645.1:p.Asp99Asn CYP2A7 19 41383217 T>T/C NM_000764.2:c.1039A>G NP_000755.2:p.Thr347Ala DEPTOR 8 121013770 A>A/G NM_022783.2:c.611A>G NP_073620.2:p.Asn204Ser DHFRL1 3 93780109 G>G/C NM_001195643.1:c.247C>G NP_001182572.1:p.Pro83Ala DMBT1 10 124358498 T>T/G NM_007329.2:c.3165T>G NP_015568.2:p.Ile1055Met DPCR1 6 30918400 A>A/G NM_080870.3:c.2159A>G NP_543146.2:p.Glu720Gly

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

EID2 19 40030704 C>C/T NM_153232.3:c.16G>A NP_694964.3:p.Ala6Thr EPPK1 8 144940230 G>G/C NM_031308.2:c.7189C>G NP_112598.3:p.Leu2397Val EPPK1 8 144940798 T>T/G NM_031308.2:c.6624A>C NP_112598.3:p.Gln2208His ERVW-1 7 92098776 C>C/T NM_001130925.1:c.920G>A NP_001124397.1:p.Ser307Asn FBRSL1 12 133158650 C>C/T NM_001142641.1:c.2128C>T NP_001136113.1:p.Pro710Ser FCGBP 19 40368395 C>C/T NM_003890.2:c.12953G>A NP_003881.2:p.Arg4318His FFAR3 19 35849926 G>G/A NM_005304.3:c.134G>A NP_005295.1:p.Arg45His FLG 1 152282450 C>C/G NM_002016.1:c.4912G>C NP_002007.1:p.Glu1638Gln FOXC1 6 1611802 G>G/GGGC NM_001453.2:c.1139_1141dupGCG NP_001444.2:p.Gly380dup FOXD1 5 GGCGGCGGCGGCCTGC>GGCGGCGGCGGCCT72743029 _004472.2:c.1144_1158delGCAGGCCGCCGCCGC NP_004463.1:p.Ala382_Arg386del FOXD4L6 9 69200516 C>C/T NM_001085476.1:c.1097G>A NP_001078945.1:p.Arg366Lys FRAS1 4 79284694 C>C/T NM_025074.6:c.2450C>T NP_079350.5:p.Ala817Val FRG1 4 190874234 C>C/T NM_004477.2:c.271C>T NP_004468.1:p.Pro91Ser FRG1 4 190874256 C>C/T NM_004477.2:c.293C>T NP_004468.1:p.Thr98Met FSCB 14 44974189 C>A/A NM_032135.3:c.2002G>T NP_115511.3:p.Ala668Ser GBP1 1 89522646 G>G/C NM_002053.2:c.1046C>G NP_002044.2:p.Thr349Ser GBP2 1 89575909 T>T/A NM_004120.4:c.1403A>T NP_004111.2:p.Asp468Val GBP2 1 89579941 T>T/C NM_004120.4:c.907A>G NP_004111.2:p.Ser303Gly GRXCR2 5 145246085 T>T/G NM_001080516.1:c.543A>C NP_001073985.1:p.Leu181Phe HAUS4 14 23421618 A>A/C NM_017815.2:c.249T>G NP_060285.2:p.Ile83Met HEG1 3 124746049 A>A/G NM_020733.1:c.913T>C NP_065784.1:p.Ser305Pro HES4 1 935076 T>T/A NM_001142467.1:c.278A>T NP_001135939.1:p.Lys93Ile HEYL 1 40092267 G>G/T NM_014571.3:c.899C>A NP_055386.1:p.Ser300Ter HIST1H4H 6 26285723 G>G/C NM_003543.3:c.5C>G NP_003534.1:p.Ser2Cys HNRNPA1L2 13 53217270 A>A/G NM_001011724.1:c.643A>G NP_001011724.1:p.Asn215Asp HOMEZ 14 23745840 C>C/G NM_020834.2:c.597G>C NP_065885.2:p.Gln199His HPS5 11 18317588 C>C/T NM_181507.1:c.1592G>A NP_852608.1:p.Arg531His ICAM5 19 10404565 G>G/A NM_003259.3:c.1657G>A NP_003250.3:p.Glu553Lys IFNA4 9 21187311 C>T/T NM_021068.2:c.220G>A NP_066546.1:p.Ala74Thr IQSEC2 X 53264161 G>G/A NM_001111125.2:c.3707C>T NP_001104595.1:p.Ser1236Phe KIAA0753 17 6524298 T>T/A NM_014804.2:c.1125A>T NP_055619.2:p.Glu375Asp KIF11 10 94409683 A>A/C NM_004523.3:c.2862A>C NP_004514.2:p.Lys954Asn KIFC3 16 57847634A>ATGCAGGTG/ATGCAGGTGNM_001278081.1:c.137_138insTGCAGGTG NP_001265010.1:p.Trp48GlyfsTer127

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

KISS1R 19 920642 T>T/A NM_032551.4:c.1091T>A NP_115940.2:p.Leu364His KMT2C 7 151927021 C>C/A NM_170606.2:c.2963G>T NP_733751.2:p.Cys988Phe KMT2C 7 151927025 A>A/G NM_170606.2:c.2959T>C NP_733751.2:p.Tyr987His KRT32 17 39622068 G>G/T NM_002278.3:c.665C>A NP_002269.3:p.Ser222Tyr LILRB3 19 54725930 C>C/T NM_001081450.1:c.428G>A NP_001074919.1:p.Arg143Gln LPA 6 160952838 G>G/A NM_005577.2:c.6046C>T NP_005568.2:p.Arg2016Cys LRRC38 1 13802325 T>T/C NM_001010847.1:c.874A>G NP_001010847.1:p.Lys292Glu MAFA 8 144511953 ATGG>A/A NM_201589.3:c.621_623delCCA NP_963883.2:p.His208del MDGA2 14 47530581 G>G/A NM_001113498.2:c.1189C>T NP_001106970.3:p.Pro397Ser MEGF10 5 126770498 G>G/A NM_032446.2:c.1960G>A NP_115822.1:p.Ala654Thr MKI67 10 129905429 C>C/T NM_002417.4:c.4675G>A NP_002408.3:p.Val1559Met MLPH 2 238434434 C>C/T NM_024101.6:c.866C>T NP_077006.1:p.Thr289Ile MPRIP 17 17039561 CCAG>C/C NM_015134.3:c.566_568delGCA NP_055949.2:p.Ser189del MST1L 1 17085502 T>T/C NM_001271733.1:c.1189A>G NP_001258662.1:p.Met397Val MST1L 1 17087465 G>G/A NM_001271733.1:c.200C>T NP_001258662.1:p.Pro67Leu MYCBPAP 17 48606537 C>C/G NM_032133.4:c.2841C>G NP_115509.4:p.Ser947Arg MZT2A 2 132249916 AC>AC/A NM_001085365.1:c.33delG NP_001078834.1:p.Ser12ArgfsTer22 N/A 1 148756499 A>A/G NM_001102663.1:c.1828A>G NP_001096133.1:p.Arg610Gly N/A 5 151150256 CT>CT/C NM_001278082.1:c.11delA NP_001265011.1:p.Glu4GlyfsTer40 NACA2 17 59668021 G>G/C NM_199290.3:c.521C>G NP_954984.1:p.Thr174Arg NBPF11 1 146057292 T>T/C NM_183372.4:c.320A>G NP_899228.4:p.Asn107Ser NBPF20 1 148252111 C>C/T NM_001278267.1:c.11794G>A NP_001265196.1:p.Gly3932Ser NCF1 7 74193620 G>G/A NM_000265.5:c.247G>A NP_000256.4:p.Gly83Arg Subcutaneous NCR2 6 41309552 T>T/C NM_004828.3:c.415T>C NP_004819.2:p.Ser139Pro metastasis NEFL 8 24811064 AG>A/A NM_006158.4:c.1414delC NP_006149.2:p.Leu472SerfsTer73 NFKBIZ 3 101568542 G>G/A NM_031419.3:c.70G>A NP_113607.1:p.Gly24Ser NOB1 16 69782855 C>C/T NM_014062.2:c.692G>A NP_054781.1:p.Arg231Gln NPIPB5 16 22545897 G>G/T NM_001135865.1:c.1593G>T NP_001129337.1:p.Lys531Asn NUTM2A 10 88988115 G>G/A NM_001099338.1:c.478G>A NP_001092808.1:p.Ala160Thr NUTM2A 10 88992641 G>A/A NM_001099338.1:c.1633G>A NP_001092808.1:p.Gly545Ser PABPC1 8 101718965 G>G/A NM_002568.3:c.1516C>T NP_002559.2:p.Arg506Cys PABPC1 8 101718968 C>C/T NM_002568.3:c.1513G>A NP_002559.2:p.Val505Ile PABPC3 13 25671310 TTATGA>TTATGA/T NM_030979.2:c.976_980delATGAT NP_112241.2:p.Met326GlyfsTer21

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

PARP4 13 25000617 C>C/G NM_006437.3:c.4966G>C NP_006428.2:p.Ala1656Pro PDE4DIP 1 144852390 C>C/T NM_001198834.3:c.7053G>A NP_001185763.3:p.Trp2351Ter PFKM 12 48534616 G>G/A NM_001166686.1:c.1516G>A NP_001160158.1:p.Val506Ile PHRF1 11 610711 G>G/A NM_020901.2:c.4624G>A NP_065952.2:p.Glu1542Lys PIK3CB 3 138417865 C>C/T NM_006219.2:c.1654G>A NP_006210.1:p.Glu552Lys PKD1L2 16 81161473G>G/GTACTGCCAAGCCTGGGGAAA2892.3:c.6241_6242insGCTTTCCCCAGGCTTGGCA NP_443124.3:p.Thr2081SerfsTer? PKD1L2 16 81213378 A>A/G NM_052892.3:c.2132T>C NP_443124.3:p.Leu711Pro PLIN4 19 4511350 T>T/A NM_001080400.1:c.2580A>T NP_001073869.1:p.Lys860Asn PLIN4 19 4512669 T>T/C NM_001080400.1:c.1261A>G NP_001073869.1:p.Thr421Ala PODN 1 53535493 C>C/G NM_153703.4:c.110C>G NP_714914.2:p.Pro37Arg POLR2J3 7 102210320 G>G/C NM_001097615.2:c.102C>G NP_001091084.2:p.Ile34Met POM121 7 72413443 G>G/A NM_001257190.2:c.2116G>A NP_001244119.1:p.Ala706Thr PPIAL4E 1 148644408 A>G/G NM_001144032.1:c.323A>G NP_001137504.1:p.Asn108Ser PRB1 12 11506700 G>G/A NM_005039.3:c.337C>T NP_005030.2:p.Pro113Ser PRB3 12 11420333 AG>AG/A NM_006249.4:c.723delC NP_006240.4:p.Ser242HisfsTer69 PRB3 12 11420375 G>A/A NM_006249.4:c.682C>T NP_006240.4:p.Pro228Ser PRDM13 6 100061624 C>C/CCCG NM_021620.3:c.1131_1133dupGCC NP_067633.2:p.Pro378dup PREP 6 105726036 C>C/T NM_002726.4:c.2116G>A NP_002717.3:p.Val706Ile PRRC2C 1 171486912 G>G/A NM_015172.3:c.703G>A NP_055987.2:p.Ala235Thr PRRC2C 1 171505279 C>C/T NM_015172.3:c.2149C>T NP_055987.2:p.Leu717Phe PRRT1 6 32118278 T>T/G NM_030651.3:c.425A>C NP_085154.3:p.Gln142Pro PRUNE2 9 79324135 A>A/ATGACTGTTGCAGM_015225.2:c.3043_3054dupCTGCAACAGTCANP_056040.2:p.Leu1015_Ser1018dup PSG1 19 43373034 G>G/A NM_006905.2:c.862C>T NP_008836.2:p.Arg288Ter PSG11 19 43529026 C>T/T NM_002785.2:c.247G>A NP_002776.3:p.Val83Ile PSG4 19 43699336 T>T/C NM_002780.4:c.799A>G NP_002771.2:p.Lys267Glu PSG4 19 43709637 C>C/G NM_002780.4:c.52G>C NP_002771.2:p.Val18Leu PSG5 19 43680037 T>T/A NM_002781.3:c.694A>T NP_002772.3:p.Thr232Ser PSG5 19 43680051 C>C/T NM_002781.3:c.680G>A NP_002772.3:p.Arg227His PTEN 10 89720804 ACTTT>ACTTT/A NM_000314.4:c.956_959delCTTT NP_000305.3:p.Thr319LysfsTer24 PYHIN1 1 158912082 G>G/A NM_152501.4:c.895G>A NP_689714.2:p.Glu299Lys RAB40A X 102755551 T>T/A NM_080879.2:c.134A>T NP_543155.2:p.His45Leu RBMX X 135956342 C>C/G NM_002139.3:c.1135G>C NP_002130.2:p.Gly379Arg REPS1 6 139242207 T>T/C NM_031922.3:c.1393A>G NP_114128.3:p.Met465Val

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

REXO1L1P 8 86574480 C>C/G NM_172239.4:c.1247G>C NP_758439.4:p.Arg416Pro RP1L1 8 10465942 T>T/A NM_178857.5:c.5666A>T NP_849188.4:p.Asp1889Val SDHA 5 256509 G>G/A NM_004168.2:c.1969G>A NP_004159.2:p.Val657Ile SEMA6D 15 48058071 G>G/A NM_153618.1:c.1433G>A NP_705871.1:p.Ser478Asn SIGLEC10 19 51919949 G>G/A NM_033130.4:c.677C>T NP_149121.2:p.Ala226Val SIPA1L2 1 232650316 C>C/T NM_020808.3:c.770G>A NP_065859.3:p.Arg257His SLC25A10 17 79687174 A>A/G NM_001270953.1:c.848A>G NP_001257882.1:p.Gln283Arg SLC25A10 17 79687218 G>G/A NM_001270953.1:c.892G>A NP_001257882.1:p.Val298Ile SLC36A3 5 150667016 T>T/C NM_001145017.1:c.622A>G NP_001138489.1:p.Lys208Glu SLC9B1 4 103822404 G>G/A NM_139173.3:c.1418C>T NP_631912.2:p.Ala473Val SLC9B1 4 103826769 G>G/A NM_139173.3:c.1234C>T NP_631912.2:p.Arg412Ter SPHKAP 2 228882558 C>C/G NM_001142644.1:c.3012G>C NP_001136116.1:p.Lys1004Asn SPTA1 1 158631146 C>C/G NM_003126.2:c.2518G>C NP_003117.2:p.Glu840Gln SPTBN5 15 42154738 G>G/A NM_016642.3:c.7384C>T NP_057726.4:p.Arg2462Trp SRGAP2 1 206566904 T>T/C NM_015326.3:c.448T>C NP_056141.2:p.Val150Ala SRGAP2C 1 121116688 A>A/G NM_001271872.1:c.281A>G NP_001258801.1:p.His94Arg SRR 17 2218895 A>A/G NM_021947.1:c.41A>G NP_068766.1:p.Lys14Arg ST14 11 130064592 G>G/T NM_021978.3:c.1073G>T NP_068813.1:p.Gly358Val SUMF1 3 4508667 T>T/G NM_182760.3:c.263A>C NP_877437.2:p.His88Pro TAOK2 16 29999269 C>C/T NM_016151.3:c.3676C>T NP_057235.2:p.Arg1226Cys TCAF2 7 143417083 T>C/C NM_001130025.1:c.931T>C NP_001123497.1:p.Cys311Arg TGM3 20 2321105 G>G/C NM_003245.3:c.1960G>C NP_003236.3:p.Gly654Arg THRAP3 1 36752433 C>C/T NM_005119.3:c.602C>T NP_005110.2:p.Ala201Val THSD7A 7 11581213 C>C/A NM_015204.2:c.1655G>T NP_056019.1:p.Gly552Val TIMM23 10 51623147 C>C/T NM_006327.3:c.68G>A NP_006318.1:p.Gly23Glu TNR 1 175348723 C>C/T NM_003285.2:c.1928G>A NP_003276.3:p.Arg643Lys TNRC18 7 5396667 T>T/A NM_001080495.2:c.5074A>T NP_001073964.2:p.Arg1692Ter TP53 17 7576855 G>G/A NM_000546.5:c.991C>T NP_000537.3:p.Gln331Ter TRIM51 11 55652963 A>A/G NM_032681.3:c.59A>G NP_116070.2:p.Asn20Ser TRIM6,TRIM6-TRIM34 11 5632482 C>C/G NM_001003818.2:c.1461C>G NP_001003818.1:p.Phe487Leu TRIOBP 22 38120175 GCCT>GCCT/G NM_001039141.2:c.1617_1619delCTC NP_001034230.1:p.Ser540del TRMT10B 9 37763664 C>C/G NM_144964.2:c.334C>G NP_659401.2:p.Leu112Val TTC21A 3 39180263 G>G/A NM_145755.2:c.3947G>A NP_665698.2:p.Arg1316Lys

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

TTC30B 2 178417142 C>C/T NM_152517.2:c.350G>A NP_689730.2:p.Arg117His UGT2B28 4 70146804 G>G/C NM_053039.1:c.586G>C NP_444267.1:p.Val196Leu USH2A 1 215960167 T>T/G NM_206933.2:c.10232A>C NP_996816.2:p.Glu3411Ala VCX2 X 8138165 C>G/G NM_016378.2:c.328G>C NP_057462.2:p.Val110Leu VCX2 X 8138170 C>G/G NM_016378.2:c.323G>C NP_057462.2:p.Ser108Thr VCX2 X 8138171 T>C/C NM_016378.2:c.322A>G NP_057462.2:p.Ser108Gly VCX2 X 8138182 A>A/G NM_016378.2:c.311T>C NP_057462.2:p.Leu104Pro VPS13A 9 79952173 C>C/T NM_033305.2:c.6098C>T NP_150648.2:p.Ser2033Leu XRCC1 19 44057574 G>G/A NM_006297.2:c.580C>T NP_006288.2:p.Arg194Trp ZNF100 19 21909948 G>G/A NM_173531.3:c.1166C>T NP_775802.2:p.Thr389Ile ZNF100 19 21910209 G>G/A NM_173531.3:c.905C>T NP_775802.2:p.Ser302Leu ZNF208 19 22155918 T>C/C NM_007153.3:c.1918A>G NP_009084.2:p.Lys640Glu ZNF208 19 22156482 G>G/T NM_007153.3:c.1354C>A NP_009084.2:p.Pro452Thr ZNF260 19 37004920 C>C/G NM_001012756.2:c.1221G>C NP_001012774.1:p.Gln407His ZNF316 7 6692605 T>T/C NM_001278559.1:c.1378T>C NP_001265488.1:p.Ser460Pro ZNF345 19 37368936 G>G/C NM_003419.4:c.1204G>C NP_003410.1:p.Glu402Gln ZNF419 19 58004931 A>A/G NM_001098491.1:c.1009A>G NP_001091961.1:p.Ile337Val ZNF479 7 57188362 C>C/A NM_033273.1:c.760G>T NP_150376.1:p.Ala254Ser ZNF479 7 57188526 T>C/C NM_033273.1:c.596A>G NP_150376.1:p.His199Arg ZNF493 19 21606429 G>G/T NM_001076678.2:c.968G>T NP_001070146.1:p.Cys323Phe ZNF595 4 86101 G>GC/GC NM_182524.2:c.707dupC NP_872330.1:p.Leu237PhefsTer414 ZNF626 19 20807185 C>C/T NM_001076675.2:c.1498G>A NP_001070143.1:p.Glu500Lys ZNF626 19 20807352 C>C/T NM_001076675.2:c.1331G>A NP_001070143.1:p.Arg444Lys ZNF675 19 23836725 T>T/C NM_138330.2:c.1010A>G NP_612203.2:p.Glu337Gly ZNF705A 12 8327883 C>C/T NM_001004328.2:c.199C>T NP_001004328.1:p.Arg67Trp ZNF705G 8 7218632 C>C/T NM_001164457.1:c.139G>A NP_001157929.1:p.Gly47Arg ZNF714 19 21300462 A>G/G NM_182515.3:c.992A>G NP_872321.2:p.Lys331Arg ZNF761 19 53959343 G>G/A NM_001008401.3:c.1583G>A NP_001008401.3:p.Arg528Gln ZNF765 19 53911973 A>A/G NM_001040185.1:c.1165A>G NP_001035275.1:p.Ser389Gly ZNF93 19 20044932 G>G/A NM_031218.3:c.1168G>A NP_112495.2:p.Val390Ile ZSCAN29 15 43653555 C>C/G NM_152455.3:c.2275G>C NP_689668.3:p.Glu759Gln ACSM2A 16 20476995 G>G/A NM_001010845.2:c.334G>A NP_001010845.1:p.Val112Met ALMS1 2 73678130 G>G/T NM_015120.4:c.4473G>T NP_055935.4:p.Glu1491Asp

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

ANKRD30A 10 37433975 T>T/G NM_052997.2:c.1278T>G NP_443723.2:p.Cys426Trp ANKRD30A 10 37433983 G>G/T NM_052997.2:c.1286G>T NP_443723.2:p.Arg429Leu ANKRD36 2 97818241 T>T/G NM_001164315.1:c.1163T>G NP_001157787.1:p.Val388Gly ANKRD40 17 48777220 G>G/GTCA NM_052855.3:c.315_317dupTGA NP_443087.1:p.Asp106dup AQP12A 2 241631839 G>G/A NM_198998.2:c.472G>A NP_945349.1:p.Ala158Thr BAGE2 21 11049617 C>C/G NM_182482.2:c.284G>C NP_872288.2:p.Arg95Thr BRWD3 X 79971740 T>T/A NM_153252.4:c.2241A>T NP_694984.4:p.Glu747Asp CA2 8 86386035 G>G/A NM_000067.2:c.346G>A NP_000058.1:p.Ala116Thr CACNA1I 22 40082180 A>A/C NM_021096.3:c.6442A>C NP_066919.2:p.Thr2148Pro CANT1 17 76993494 T>T/G NM_138793.3:c.211A>C NP_620148.1:p.Thr71Pro CD177 19 43865316 C>C/G NM_020406.2:c.782C>G NP_065139.2:p.Ala261Gly CD177 19 43865321 T>T/A NM_020406.2:c.787T>A NP_065139.2:p.Ter263LysextTer? CD177 19 43865324 A>A/G NM_020406.2:c.790A>G NP_065139.2:p.Ser264Gly CDC27 17 45221251 T>T/C NM_001114091.1:c.1186A>G NP_001107563.1:p.Lys396Glu CDC27 17 45249365 C>C/T NM_001114091.1:c.169G>A NP_001107563.1:p.Ala57Thr CDC27 17 45249391 T>T/G NM_001114091.1:c.143A>C NP_001107563.1:p.Tyr48Ser CDX1 5 149546828 C>C/G NM_001804.2:c.389C>G NP_001795.2:p.Pro130Arg CEP164 11 117280516 A>A/C NM_014956.4:c.3931A>C NP_055771.4:p.Thr1311Pro CHSY3 5 129241169 A>A/C NM_175856.4:c.647A>C NP_787052.3:p.Gln216Pro CHTF18 16 847743 C>C/T NM_022092.2:c.2783C>T NP_071375.1:p.Pro928Leu CLIP3 19 36523166 T>T/G NM_015526.2:c.94A>C NP_056341.1:p.Ser32Arg CNOT4 7 135095333 A>A/T NM_001190850.1:c.753T>A NP_001177779.1:p.Phe251Leu CTBP2 10 126683244 C>C/G NM_022802.2:c.2194G>C NP_073713.2:p.Gly732Arg CTBP2 10 126686724 T>T/C NM_022802.2:c.1994A>G NP_073713.2:p.Asn665Ser CTBP2 10 126686726 G>G/T NM_022802.2:c.1992C>A NP_073713.2:p.Cys664Ter CTDSP2 12 58217388 AG>AG/A NM_005730.3:c.812delC NP_005721.3:p.Pro271LeufsTer52 DLGAP3 1 35334404 T>T/G NM_001080418.1:c.2287A>C NP_001073887.1:p.Thr763Pro DNAAF1 16 84203692 A>A/G NM_178452.4:c.1258A>G NP_848547.4:p.Thr420Ala DRD2 11 113283524 T>T/G NM_000795.3:c.892A>C NP_000786.1:p.Ile298Leu EGFR 7 55249019 C>C/CCCCACG NM_005228.3:c.2314_2315insCCCACG NP_005219.2:p.Pro772_His773insHisAla EML5 14 89087259 G>G/T NM_183387.2:c.5214C>A NP_899243.1:p.Asn1738Lys ERICH1 8 623408 G>G/T NM_207332.1:c.944C>A NP_997215.1:p.Ala315Glu FAM47C X 37028026 T>T/C NM_001013736.2:c.1543T>C NP_001013758.1:p.Ser515Pro

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

FAM8A1 6 17601035 A>A/G NM_016255.2:c.395A>G NP_057339.1:p.His132Arg FAM8A1 6 17601040 G>G/A NM_016255.2:c.400G>A NP_057339.1:p.Gly134Ser FAM8A1 6 17601041 G>G/T NM_016255.2:c.401G>T NP_057339.1:p.Gly134Val FAM8A1 6 17601044 T>T/C NM_016255.2:c.404T>C NP_057339.1:p.Leu135Pro FAM8A1 6 17601086 A>A/G NM_016255.2:c.446A>G NP_057339.1:p.Gln149Arg FAM8A1 6 17601098 C>C/T NM_016255.2:c.458C>T NP_057339.1:p.Ser153Leu FAM8A1 6 17601103 G>G/A NM_016255.2:c.463G>A NP_057339.1:p.Gly155Ser FMNL2 2 153417428 G>G/T NM_052905.3:c.475G>T NP_443137.2:p.Glu159Ter FOXN3 14 89878358 G>G/A NM_001085471.1:c.463C>T NP_001078940.1:p.Pro155Ser FRG1 4 190878569 T>T/C NM_004477.2:c.449T>C NP_004468.1:p.Leu150Ser FRG1 4 190883030 G>G/T NM_004477.2:c.683G>T NP_004468.1:p.Ser228Ile FRG1 4 190883075 C>C/T NM_004477.2:c.728C>T NP_004468.1:p.Thr243Met FRG2C 3 75714771 A>A/G NM_001124759.1:c.428A>G NP_001118231.1:p.Asp143Gly GLTSCR1 19 48197664 A>A/C NM_015711.3:c.2576A>C NP_056526.3:p.Gln859Pro GRIN3B GGCCCCCGCGGAGGCCCCACCACACTCT>GGCCCCCGCGGAGGCCCCA19 1009550 0.1:c.3083_3109delCCCCCGCGGAGGCCCCACCA NP_619635.1:p.Ala1028_Ser1036del GXYLT1 12 42538294 C>C/G NM_173601.1:c.155G>C NP_775872.1:p.Gly52Ala GXYLT1 12 42538334 C>C/A NM_173601.1:c.115G>T NP_775872.1:p.Gly39Trp GXYLT1 12 42538340 C>C/A NM_173601.1:c.109G>T NP_775872.1:p.Gly37Cys GXYLT1 12 42538349 T>T/C NM_173601.1:c.100A>G NP_775872.1:p.Thr34Ala GXYLT1 12 42538352 C>C/A NM_173601.1:c.97G>T NP_775872.1:p.Gly33Ter HES3 1 6305292 C>C/A NM_001024598.3:c.286C>A NP_001019769.1:p.Pro96Thr HLA-A 6 29912108 G>C/C NM_002116.7:c.829G>C NP_002107.3:p.Glu277Gln HLA-B 6 31324144 T>A/A NM_005514.6:c.419A>T NP_005505.2:p.Tyr140Phe HLA-C 6 31238963 C>C/A NM_002117.5:c.506G>T NP_002108.4:p.Arg169Leu HLA-DQA2 6 32712977 C>C/T NM_020056.4:c.124C>T NP_064440.1:p.His42Tyr HLA-DQA2 6 32712996 A>A/T NM_020056.4:c.143A>T NP_064440.1:p.Tyr48Phe HLA-DQA2 6 32713044 C>C/G NM_020056.4:c.191C>G NP_064440.1:p.Thr64Arg HLA-DQA2 6 32713061 C>C/A NM_020056.4:c.208C>A NP_064440.1:p.Gln70Lys HLA-DQA2 6 32713598 T>T/C NM_020056.4:c.362T>C NP_064440.1:p.Phe121Ser HLA-DQB1 6 32632628 G>G/C NM_001243961.1:c.326C>G NP_001230890.1:p.Thr109Arg HLA-DQB1 6 32632635 A>A/C NM_001243961.1:c.319T>G NP_001230890.1:p.Leu107Val HLA-DQB1 6 32632637 T>T/G NM_001243961.1:c.317A>C NP_001230890.1:p.Glu106Ala HLA-DQB1 6 32632688 T>T/G NM_001243961.1:c.266A>C NP_001230890.1:p.Asp89Ala

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

HLA-DQB1 6 32632694 C>C/A NM_001243961.1:c.260G>T NP_001230890.1:p.Arg87Leu HLA-DQB1 6 32632700 T>T/A NM_001243961.1:c.254A>T NP_001230890.1:p.Gln85Leu HLA-DQB1 6 32632703 G>G/A NM_001243961.1:c.251C>T NP_001230890.1:p.Pro84Leu HLA-DRB1 6 32546879 A>G/G NM_002124.3:c.790T>C NP_002115.2:p.Phe264Leu HLA-DRB1 6 32548627 C>C/T NM_002124.3:c.659G>A NP_002115.2:p.Arg220Gln HLA-DRB1 6 32548632 T>T/A NM_002124.3:c.654A>T NP_002115.2:p.Arg218Ser HLA-DRB1 6 32552095 C>T/T NM_002124.3:c.161G>A NP_002115.2:p.Arg54Gln HLA-DRB5 6 32489882 T>T/A NM_002125.3:c.170A>T NP_002116.2:p.His57Leu HLA-DRB5 6 32489883 G>C/T NM_002125.3:c.169C>A NP_002116.2:p.His57Asn HLA-DRB5 6 32489883 G>T/C NM_002125.3:c.169C>G NP_002116.2:p.His57Asp HNRNPL 19 39340449 T>T/G NM_001533.2:c.158A>C NP_001524.2:p.Glu53Ala HNRNPU 1 245023717 T>T/C NM_031844.2:c.937A>G NP_114032.2:p.Met313Val HOMEZ 14 23744826 TTCC>TTCC/T NM_020834.2:c.1608_1610delGGA NP_065885.2:p.Glu537del HOXD3 2 177034215 A>A/C NM_006898.4:c.373A>C NP_008829.3:p.Thr125Pro HS6ST1 2 129075877 G>G/T NM_004807.2:c.261C>A NP_004798.3:p.Asp87Glu IER5 1 181058313 G>G/A NM_016545.4:c.275G>A NP_057629.2:p.Arg92His ITSN1 21 35247661 C>C/A NM_003024.2:c.4177C>A NP_003015.2:p.Leu1393Met ITSN1 21 35247662 T>T/A NM_003024.2:c.4178T>A NP_003015.2:p.Leu1393Gln KAT8 16 31142254 T>T/G NM_182958.2:c.1345T>G NP_892003.2:p.Trp449Gly KCNJ12 17 21319860 C>C/A NM_021012.4:c.1206C>A NP_066292.2:p.Asp402Glu KIR2DL1 19 55281318 G>G/A NM_014218.2:c.16G>A NP_055033.2:p.Val6Ile KIR2DL1 19 55286844 G>G/A NM_014218.2:c.598G>A NP_055033.2:p.Gly200Ser KIR2DL1 19 55286850 T>T/C NM_014218.2:c.604T>C NP_055033.2:p.Phe202Leu KIR3DL1 19 55341672 T>T/C NM_013289.2:c.1277T>C NP_037421.2:p.Ile426Thr Primary lung KIR3DL1 19 55341674 T>T/A NM_013289.2:c.1279T>A NP_037421.2:p.Leu427Met tumor KIR3DL1 19 55341713 G>G/A NM_013289.2:c.1318G>A NP_037421.2:p.Val440Ile KIR3DL2 19 55367122 A>A/G NM_006737.3:c.704A>G NP_006728.2:p.Gln235Arg KIR3DL2 19 55367123 G>G/C NM_006737.3:c.705G>C NP_006728.2:p.Gln235His KRT6C 12 52865925 C>C/T NM_173086.4:c.680G>A NP_775109.2:p.Ser227Asn LEKR1 3 156570687 G>G/T NM_001004316.2:c.179G>T NP_001004316.2:p.Arg60Leu LILRB3 19 54726299 A>A/C NM_001081450.1:c.206T>G NP_001074919.1:p.Leu69Trp LOR 1 153233488 C>C/CGGCGGT NM_000427.2:c.75_80dupTGGCGG NP_000418.2:p.Gly27_Gly28dup LPCAT2 16 55563792 C>C/A NM_017839.4:c.575C>A NP_060309.2:p.Pro192Gln

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

LPCAT2 16 55563810 C>C/A NM_017839.4:c.593C>A NP_060309.2:p.Thr198Lys LPCAT2 16 55563818 G>G/A NM_017839.4:c.601G>A NP_060309.2:p.Glu201Lys LSM14A 19 34687569 C>C/A NM_015578.2:c.316C>A NP_056393.2:p.Gln106Lys MACROD1 11 63933261 A>A/C NM_014067.3:c.206T>G NP_054786.2:p.Val69Gly MAGEC1 X 140993905 C>T/T NM_005462.4:c.715C>T NP_005453.2:p.Pro239Ser MAGEC1 X 140994656 C>C/A NM_005462.4:c.1466C>A NP_005453.2:p.Ser489Tyr MAP1B 5 71492010 A>A/T NM_005909.3:c.2828A>T NP_005900.2:p.Glu943Val MCM3AP 21 47685404 G>G/T NM_003906.3:c.3065C>A NP_003897.2:p.Pro1022Gln MDC1 6 30672717 C>C/G NM_014641.2:c.4243G>C NP_055456.2:p.Glu1415Gln MDC1 6 30672741 G>G/C NM_014641.2:c.4219C>G NP_055456.2:p.Leu1407Val MEPE 4 88767259 T>T/A NM_001184694.1:c.1239T>A NP_001171623.1:p.His413Gln MST1L 1 17085791 G>G/A NM_001271733.1:c.1030C>T NP_001258662.1:p.Arg344Cys MUC16 19 8999488 C>C/T NM_024690.2:c.40687G>A NP_078966.2:p.Asp13563Asn MUC16 19 8999503 T>T/G NM_024690.2:c.40672A>C NP_078966.2:p.Lys13558Gln MUC16 19 8999514 C>C/T NM_024690.2:c.40661G>A NP_078966.2:p.Arg13554His MUC16 19 9000187 C>C/T NM_024690.2:c.40570G>A NP_078966.2:p.Val13524Ile MUC16 19 9024843 T>T/C NM_024690.2:c.37019A>G NP_078966.2:p.Asn12340Ser MUC16 19 9024844 T>T/C NM_024690.2:c.37018A>G NP_078966.2:p.Asn12340Asp MUC16 19 9024855 G>G/A NM_024690.2:c.37007C>T NP_078966.2:p.Thr12336Ile MUC16 19 9024856 T>T/G NM_024690.2:c.37006A>C NP_078966.2:p.Thr12336Pro MUC16 19 9024951 T>T/A NM_024690.2:c.36911A>T NP_078966.2:p.His12304Leu MUC16 19 9024988 C>C/G NM_024690.2:c.36874G>C NP_078966.2:p.Asp12292His MUC6 11 1017363 C>C/G NM_005961.2:c.5438G>C NP_005952.2:p.Gly1813Ala NATD1 17 21156530 G>GC/GC NM_152914.2:c.46dupG NP_690878.2:p.Ala16GlyfsTer99 NOMO2 16 18542857 C>C/T NM_001004060.1:c.1468G>A NP_001004060.1:p.Asp490Asn NUAK1 12 106532391 T>T/G NM_014840.2:c.41A>C NP_055655.1:p.Asp14Ala OR51S1 11 4870194 A>A/C NM_001004758.1:c.245T>G NP_001004758.1:p.Val82Gly OR6C76 12 55820958 CA>CA/C NM_001005183.1:c.933delA NP_001005183.1:p.Lys311AsnfsTer? OSM 22 30660102 T>T/G NM_020530.4:c.529A>C NP_065391.1:p.Thr177Pro PABPC3 13 25671742 G>G/A NM_030979.2:c.1406G>A NP_112241.2:p.Arg469Gln PABPC3 13 25671786 G>G/A NM_030979.2:c.1450G>A NP_112241.2:p.Val484Met PABPC3 13 25672177 C>C/T NM_030979.2:c.1841C>T NP_112241.2:p.Ala614Val PABPC3 13 25672188 A>A/T NM_030979.2:c.1852A>T NP_112241.2:p.Thr618Ser

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

PCDH15 10 55582640 T>T/A NM_001142763.1:c.4867A>T NP_001136235.1:p.Thr1623Ser PCDHB2 5 140474420 G>G/C NM_018936.2:c.46G>C NP_061759.1:p.Val16Leu PCMTD1 8 52733228 G>G/A NM_052937.2:c.757C>T NP_443169.2:p.Arg253Cys PCNT 21 47754614 A>A/C NM_006031.5:c.571A>C NP_006022.3:p.Thr191Pro PHC2 1 33834148 T>T/G NM_198040.2:c.652A>C NP_932157.1:p.Thr218Pro PRR35 16 614069 A>A/C NM_145270.2:c.775A>C NP_660313.1:p.Thr259Pro PRSS1 7 142458511 G>G/T NM_002769.4:c.146G>T NP_002760.1:p.Gly49Val PRSS1 7 142458523 T>T/A NM_002769.4:c.158T>A NP_002760.1:p.Ile53Asn PRSS1 7 142458526 A>A/G NM_002769.4:c.161A>G NP_002760.1:p.Asn54Ser PRSS1 7 142458527 C>C/G NM_002769.4:c.162C>G NP_002760.1:p.Asn54Lys PRSS1 7 142458531 C>C/T NM_002769.4:c.166C>T NP_002760.1:p.Gln56Ter PRSS3,UBE2R2-AS1 9 33798543 A>A/G NM_007343.3:c.685A>G NP_031369.2:p.Lys229Glu PTPN18 2 131129928 AGACGGG>AGACGGG/A NM_014369.3:c.1132_1137delACGGGG NP_055184.2:p.Thr378_Gly379del QRICH2 17 74287603 C>C/A NM_032134.1:c.2707G>T NP_115510.1:p.Gly903Ter QSOX1 1 180147938 G>G/T NM_002826.4:c.525G>T NP_002817.2:p.Glu175Asp RAB2A 8 61484612 G>G/T NM_002865.2:c.126G>T NP_002856.1:p.Glu42Asp RAB2A 8 61484613 T>T/A NM_002865.2:c.127T>A NP_002856.1:p.Phe43Ile RBFOX3 17 77111710 T>T/G NM_001082575.2:c.88A>C NP_001076044.1:p.Thr30Pro RHPN2 19 33490500 C>C/T NM_033103.4:c.1217G>A NP_149094.3:p.Arg406Gln RHPN2 19 33490585 G>G/A NM_033103.4:c.1132C>T NP_149094.3:p.Gln378Ter RP1L1 8 10467626 C>C/T NM_178857.5:c.3982G>A NP_849188.4:p.Glu1328Lys RP1L1 8 10467653 C>C/T NM_178857.5:c.3955G>A NP_849188.4:p.Ala1319Thr RPL14 3 40503520A>ACTGCTGCTG/ACTGCTGCTGNM_003973.4:c.469_477dupGCTGCTGCT NP_003964.3:p.Ala157_Ala159dup RPTN 1 152128013 A>A/T NM_001122965.1:c.1562T>A NP_001116437.1:p.Phe521Tyr SCN4A 17 62049196 C>C/A NM_000334.4:c.497G>T NP_000325.4:p.Gly166Val SELPLG 12 109017587 A>A/T NM_001206609.1:c.545T>A NP_001193538.1:p.Leu182Gln SF3B4 1 149897889 C>C/A NM_005850.4:c.752G>T NP_005841.1:p.Gly251Val SLC23A2 20 4893560 G>G/T NM_203327.1:c.173C>A NP_976072.1:p.Ala58Glu SMO 7 128829039 G>G/GGCT NM_005631.4:c.67_69dupCTG NP_005622.1:p.Leu23dup SRGAP2 1 206566195 C>C/T NM_015326.3:c.379C>T NP_056141.2:p.Thr127Met SRGAP3 3 9121717 G>G/T NM_014850.3:c.478C>A NP_055665.1:p.Leu160Ile SVIL 10 29779847 A>A/C NM_021738.2:c.4121T>G NP_068506.2:p.Leu1374Arg TOX4 14 21955837 T>T/G NM_014828.2:c.303T>G NP_055643.1:p.Ser101Arg

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

TP53 17 7576891 T>T/A NM_000546.5:c.955A>T NP_000537.3:p.Lys319Ter TPTE2 13 20067011 A>A/C NM_199254.2:c.98T>G NP_954863.2:p.Leu33Arg TROAP 12 49724234 C>C/A NM_005480.3:c.1606C>A NP_005471.3:p.Pro536Thr TTC9 14 71134301 C>C/A NM_015351.1:c.427C>A NP_056166.1:p.Leu143Met TYW1B 7 72081774 A>A/G NM_001145440.1:c.1669T>C NP_001138912.1:p.Cys557Arg UHRF1BP1L 12 100482753 G>G/A NM_015054.1:c.961C>T NP_055869.1:p.His321Tyr UHRF1BP1L 12 100482758 G>G/A NM_015054.1:c.956C>T NP_055869.1:p.Ser319Phe ZAN 7 100349595 T>T/A NM_003386.1:c.1867T>A NP_003377.1:p.Ser623Thr ZCCHC8 12 122962450 G>G/A NM_017612.3:c.1283C>T NP_060082.2:p.Pro428Leu ZNF14 19 19822719 C>C/A NM_021030.2:c.1371G>T NP_066358.2:p.Arg457Ser ZNF257 19 22271560 G>G/T NM_033468.2:c.1008G>T NP_258429.2:p.Met336Ile ZNF432 19 52537773 G>G/T NM_014650.2:c.1159C>A NP_055465.1:p.Arg387Ser ZNF451 6 57012439 G>G/A NM_001031623.2:c.1556G>A NP_001026794.1:p.Arg519Gln ZNF595 4 86018 T>T/C NM_182524.2:c.623T>C NP_872330.1:p.Leu208Pro ZNF679 7 63727214 G>G/T NM_153363.2:c.1203G>T NP_699194.2:p.Met401Ile ZNF717 3 75788403 G>G/GT NM_001128223.1:c.370dupA NP_001121695.1:p.Thr124AsnfsTer6 ZNF735 7 63680490 C>C/A NM_001159524.1:c.1061C>A NP_001152996.1:p.Thr354Lys ZNF737 19 20728011 C>C/A NM_001159293.1:c.998G>T NP_001152765.1:p.Arg333Ile ZNF850 19 37240549 G>G/T NM_001193552.1:c.1393C>A NP_001180481.1:p.Leu465Ile

Abbreviations : HGVSc : Human Genome Variation Society coding sequence name, HGVSp : Human Genome Variation Society protein sequence name.

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783 Supplementary material J Clin Pathol

Bergeron A, et al. J Clin Pathol 2020;0:1–5. doi: 10.1136/jclinpath-2019-205783