150 100 50 163 169 313 # mutations Non syn. Syn. E">)->(A/T: E">6A/C/T)->(A/T) flip A->6";): indel+null double_null # mutations/Mb 0 20 40 60 80 2% 6% 4% 5% 1% 3% 3% 5% 4% 1% 3% 2% 10% 8% 5% 2% 3% 5% 7% 2% 4% 1% 5% 2% 4% 4% 6% 4% 5% 2% 2% 5% 4% 3% 6% 3% 17% 2% 1% 1% 6% 3% 1% 4% 1% 2% 3% 8% 2% 2% 5% 3% 2% 1% 6% 5% 2% 2% 4% 3% 6% 3% 1% 3% 3% 5% 1% 4% 2% 0% 5% 3% 5% 4% 1% 3% 15% 4% 2% 10% 7% 7% 3% 10% 3% 6% 4% 3% 11% 4% 3% 6% 21% 3% 3% 4% 8% 2% 6% 5% 4% 8% 3% 3% 6% 1% 6% 3% 2% 5% 7% 5% 3% 3% 2% 10% 3% 17% 6% 6% 4% 6% 12% 9% 5% 6% 5% 4% 3% 2% 21% 5% 4% 4% 17% 5% 3% 4% 3% 4% 4% 7% 7% 6% 6% 6% 4% 6% 6% 6% 8% 6% 1% 2% 2% 2% 3% 4% 8% 13% 17% 30% 54% 15% 0 (0A$205243952TP (0A$297281792TP(0A$273246702TP (0A$299280252TP(0A$255282992TP (0A$2MP2A4T&2TP(0A$250259392TP (0A$205254252TP(0A$244267792TP (0A$255279132TP(0A$275251462TP (0A$2622A4712TP(0A$255275742TP (0A$205244322TP(0A$244281202TP (0A$2442A4792TP(0A$249244872TP (0A$2N-2A4'&2TP(0A$286282802TP (0A$278275352TP(0A$255215962TP (0A$235236152TP(0A$244261442TP (0A$2N-2A55!2TP(0A$278271662TP (0A$244267762TP(0A$244276712TP (0A$2-2281942TP(0A$267237742TP (0A$2N-2A4'P2TP(0A$255282032TP (0A$205244172TP(0A$255285082TP (0A$286283592TP(0A$286277132TP (0A$2MP2A4TE2TP(0A$280256082TP (0A$299280322TP(0A$255286152TP (0A$2622A46S2TP(0A$250259322TP (0A$2N-2A55*2TP(0A$278271612TP (0A$2952A4VP2TP(0A$249245072TP (0A$249244862TP(0A$291268492TP (0A$2622A46P2TP(0A$2622A4702TP (0A$205244222TP(0A$250250722TP (0A$2MP2A4TH2TP(0A$275270312TP (0A$299280332TP(0A$255280942TP (0A$295270392TP(0A$255283022TP (0A$249245052TP(0A$293280672TP (0A$2MP2A4T42TP(0A$205244332TP (0A$255279072TP(0A$278271452TP (0A$295275622TP(0A$255286162TP (0A$2172%0222TP(0A$244281172TP (0A$244267772TP(0A$297279382TP (0A$2MP2A4T.2TP(0A$269279802TP (0A$291268362TP(0A$299280282TP (0A$299274582TP(0A$295275672TP (0A$205244152TP(0A$2172%0422TP (0A$205244272TP(0A$286280562TP (0A$255279112TP(0A$297275542TP (0A$255279102TP(0A$244261452TP (0A$264257782TP(0A$269279742TP (0A$255275762TP(0A$2172%0172TP (0A$2MN2A4N52TP(0A$2932A4-*2TP (0A$244276612TP(0A$255285142TP (0A$2MP2A4T/2TP(0A$264257752TP (0A$269279782TP(0A$244226682TP (0A$2172%0372TP(0A$255272832TP (0A$2622A46!2TP(0A$283259082TP (0A$278275402TP(0A$255277262TP (0A$255285062TP(0A$2172%0202TP (0A$295279472TP(0A$2172%0262TP (0A$2532A4E%2TP(0A$267237712TP (0A$244276672TP(0A$273246662TP (0A$291268482TP(0A$255286202TP (0A$2552A4$&2TP(0A$2172%0302TP (0A$286283582TP(0A$295270432TP (0A$244276602TP(0A$255285102TP (0A$273246762TP(0A$244276692TP (0A$278271542TP(0A$253276242TP (0A$249244882TP(0A$249245142TP (0A$244267782TP(0A$255279952TP (0A$255280852TP(0A$205243842TP (0A$2622A46*2TP(0A$2172%0012TP (0A$250250682TP(0A$255215942TP (0A$205243822TP(0A$278271492TP (0A$269277652TP(0A$205244102TP (0A$278271472TP(0A$278271552TP (0A$297281722TP(0A$244261472TP (0A$2932A4-P2TP(0A$2552A48%2TP (0A$255275702TP(0A$250259442TP (0A$255280962TP(0A$205254232TP (0A$2442A4S02TP(0A$250250662TP (0A$2MP2A4T92TP(0A$267237702TP (0A$262283942TP(0A$250265952TP (0A$255275732TP(0A$286280552TP (0A$264216812TP(0A$249244902TP (0A$2172%0472TP(0A$286280752TP (0A$244239182TP(0A$250259302TP (0A$250265942TP(0A$244267742TP (0A$205254282TP(0A$278286622TP (0A$255269792TP(0A$255280922TP (0A$2MN2A4N12TP(0A$244226622TP (0A$244276622TP(0A$244226662TP (0A$2172%0622TP(0A$255280892TP (0A$2172%0572TP(0A$255282052TP (0A$238246252TP(0A$244256452TP (0A$205244262TP(0A$297285472TP (0A$2172%0232TP(0A$2172%0152TP (0A$2172%0492TP(0A$278272202TP (0A$255277272TP(0A$291268402TP (0A$255279942TP(0A$250284602TP (0A$205244242TP(0A$255283012TP (0A$2552A4912TP(0A$275262142TP (0A$297279372TP(0A$255282082TP (0A$205243982TP(0A$278271462TP (0A$2MN2A4N42TP(0A$238261782TP (0A$255285072TP(0A$235253752TP (0A$244256442TP(0A$264216772TP (0A$244233962TP(0A$244226592TP (0A$286268512TP(0A$2172%0312TP (0A$250265902TP(0A$235241222TP (0A$2692A59.2TP(0A$278286402TP (0A$2552A48(0A$2172%0552TP 2TP (0A$2MP2A4TA2TP(0A$250259332TP (0A$2932A4-N2TP(0A$2(42A4E52TP (0A$250250492TP(0A$297275532TP (0A$286280732TP(0A$250250452TP (0A$2172%0562TP(0A$250265932TP (0A$2172%0452TP(0A$2172%0092TP (0A$2862A4P72TP(0A$244276702TP (0A$2MP2A4T"2TP(0A$250265922TP (0A$295279442TP(0A$255269692TP (0A$2442A4SS2TP(0A$2552A4932TP (0A$2172%0282TP(0A$273274992TP (0A$269282552TP(0A$2172%0442TP (0A$250259312TP(0A$255286212TP (0A$2552A4$)2TP(0A$205244302TP (0A$255215922TP(0A$253276262TP (0A$278275362TP(0A$275251252TP (0A$2MP2A4SV2TP(0A$2972A4( 2TP (0A$2-22A4A$2TP(0A$264216782TP (0A$2912A4#"2TP(0A$249267672TP (0A$286286732TP(0A$286282792TP (0A$2*12A52-2TP(0A$278271502TP (0A$2622A4602TP(0A$235241232TP (0A$262283992TP(0A$238246322TP (0A$264216792TP(0A$295280392TP (0A$2442A47)2TP(0A$255269852TP (0A$2172%0032TP(0A$286279542TP (0A$255277242TP(0A$2172%0072TP (0A$286277012TP(0A$205244202TP (0A$291268312TP(0A$295284942TP (0A$2172%0522TP(0A$244267752TP (0A$2172%0212TP(0A$255282042TP (0A$205244052TP(0A$255286142TP (0A$286277112TP(0A$2172%0052TP (0A$2172%0532TP(0A$255272272TP (0A$2(92A4442TP(0A$275251472TP (0A$297281752TP(0A$286280742TP (0A$275262072TP(0A$2172%0272TP (0A$291268472TP(0A$262284022TP (0A$2622A46'2TP(0A$250266732TP (0A$238246302TP(0A$2172%0612TP (0A$278271432TP(0A$269277602TP (0A$273274982TP(0A$255286192TP (0A$286286742TP(0A$205244182TP (0A$2MP2A4T72TP(0A$250250512TP (0A$269282532TP(0A$297281762TP (0A$275262062TP(0A$273246772TP (0A$275270272TP(0A$262283982TP (0A$278271672TP(0A$255278152TP (0A$278275392TP(0A$250259412TP (0A$2172%0332TP(0A$205242492TP (0A$297279412TP(0A$255269752TP (0A$205243902TP(0A$205244032TP (0A$278286552TP(0A$255215952TP (0A$2552A4902TP(0A$291268282TP (0A$2442A47A2TP(0A$244276592TP (0A$278271482TP(0A$255272812TP (0A$255280902TP(0A$269282542TP (0A$2952A4VN2TP(0A$2862A4-&2TP (0A$2(92A4432TP(0A$267246792TP (0A$2552A4942TP(0A$255279142TP (0A$255282072TP(0A$249245102TP (0A$2442A47&2TP(0A$2952A4V.2TP (0A$205242502TP(0A$255277282TP (0A$255280972TP(0A$286280762TP (0A$2MP2A4S'2TP(0A$275251262TP (0A$264257742TP(0A$2172%0102TP (0A$2862A4562TP(0A$2972A4M02TP (0A$2172%0602TP(0A$238246262TP (0A$273246592TP(0A$255272842TP (0A$2MP2A4T82TP(0A$255277252TP (0A$249267612TP(0A$2172%0142TP (0A$250284592TP(0A$269279732TP (0A$2N-2A4'/2TP(0A$255269702TP (0A$267237732TP(0A$273246622TP (0A$286280542TP(0A$2172%0362TP (0A$2-22A4A)2TP(0A$244276722TP (0A$2172%0502TP(0A$264258152TP (0A$255266422TP(0A$293273472TP (0A$2MP2A4T$2TP(0A$250284572TP (0A$205242442TP(0A$255285122TP (0A$253278132TP(0A$255269832TP (0A$2N-2A4')2TP(0A$286279532TP (0A$2972A4M52TP(0A$291284972TP (0A$244261462TP(0A$278271602TP (0A$255269842TP(0A$275270302TP (0A$278271532TP(0A$278271582TP (0A$278276332TP(0A$205243892TP (0A$2552A4922TP(0A$244226552TP (0A$238246312TP(0A$249267432TP (0A$2N-2A4'32TP(0A$255285052TP (0A$255258992TP(0A$264257812TP (0A$275262112TP(0A$286282812TP (0A$2172%0182TP(0A$249267422TP (0A$255269722TP(0A$249245062TP (0A$2972A4M32TP(0A$255269872TP (0A$2MP2A5"72TP(0A$2172%0432TP (0A$2172%0112TP(0A$250259362TP (0A$2972A4M72TP(0A$278271622TP (0A$2MP2A4S12TP(0A$255269682TP (0A$267262172TP(0A$249244942TP (0A$2972A4M12TP(0A$291268352TP (0A$297281772TP(0A$238246292TP (0A$271285202TP(0A$2172%0022TP (0A$267237722TP(0A$250265912TP (0A$286286682TP(0A$238246272TP (0A$255279032TP(0A$255285112TP (0A$2622A4722TP(0A$286277142TP (0A$250259462TP(0A$250259422TP (0A$278275372TP(0A$244226562TP (0A$250250442TP(0A$280256072TP (0A$2912A4#$2TP(0A$2622A46V2TP (0A$2(42A4E62TP(0A$286285852TP (0A$2552A48'2TP(0A$273246582TP (0A$278286602TP(0A$255269822TP (0A$262283952TP(0A$297281742TP (0A$249267442TP(0A$244281192TP (0A$205243972TP(0A$264216802TP (0A$273246682TP(0A$264216762TP (0A$273246752TP(0A$291284992TP (0A$269279792TP(0A$267262152TP (0A$2172%0542TP(0A$2172%0482TP (0A$297275462TP(0A$2172%0512TP (0A$278271562TP(0A$278271592TP (0A$238272712TP(0A$271267252TP (0A$2172%0132TP(0A$2172%0592TP (0A$255269812TP(0A$205254202TP (0A$2442A47#2TP(0A$291284962TP (0A$205244252TP(0A$244241122TP (0A$244226652TP(0A$297281712TP (0A$278275422TP(0A$205243962TP (0A$286279552TP(0A$295279482TP (0A$238246282TP(0A$244233982TP (0A$250259352TP(0A$291268292TP (0A$244226572TP(0A$293273482TP (0A$2N-2A55A2TP(0A$2172%0162TP (0A$286286692TP(0A$205244022TP (0A$244256432TP(0A$255280872TP (0A$278271522TP(0A$297285522TP (0A$244239192TP(0A$264257792TP (0A$249245122TP(0A$291277712TP (0A$2172%0252TP(0A$2172%0042TP (0A$2MP2A4T22TP(0A$2172%0002TP (0A$280256112TP(0A$250271092TP (0A$297275522TP(0A$2172%0412TP (0A$249267452TP(0A$249245012TP (0A$205257152TP(0A$275262052TP (0A$255269782TP(0A$250265972TP (0A$2932A4-32TP(0A$2-22A4AE2TP (0A$297275472TP(0A$255269712TP (0A$2972A4M62TP(0A$275251222TP (0A$2972A4M22TP(0A$286286722TP (0A$255269862TP(0A$291268302TP (0A$255265432TP(0A$269277642TP (0A$2MP2A4T62TP(0A$255267122TP (0A$267262162TP(0A$286282782TP (0A$205244342TP(0A$275270252TP (0A$2172%0322TP(0A$255280912TP (0A$269277632TP(0A$2172%0582TP (0A$286265622TP(0A$2-2281922TP (0A$244226612TP(0A$286286712TP (0A$262283972TP(0A$269277612TP (0A$205254292TP(0A$255282062TP (0A$278271632TP(0A$275262122TP (0A$255269802TP(0A$250250552TP (0A$2382A44&2TP(0A$275262032TP (0A$255278162TP(0A$278286482TP (0A$2172%0192TP(0A$244261482TP (0A$2862A4P82TP(0A$255285132TP ADAMTS16 .RTAP21-2 .RTAP5-10 .RTAP27-1 .RTAP24-1 .RTAP19-6 SERPINB3 )*()A6" SMA!CA4 Nonsense Splice site Missense Syn. ADAMTS2 .RTAP6-2 SPANXN2 "14orf177 /(1RAPL1 .IAA0408 SPATA18 0GT2B28 $CA&8L2 "*(11A1 A.!1B15 %&'VE28 %NF804A 0 20 40 60 80 100 0 20 40 60 80 100 MAGE#2 #".$HB )AB!)2 "$.N2A SLIT!K6 MPPED2 SLIT!K4 ANK!D7 "PX"R1 SNRPD3 "MK(R1 "TNNB1 MS4A4A VSTM2A ANT R1 $()AP3 *R51G2 PPP3CA *R5$13 $USP22 *R4"16 &ER$3L *R51A7 NPF&R2 *R4"12 HAP(N1 )PR158 &AM71B *R4A16 %SWIM2 *R2#11 TAS2R1 TCEAL5 ATXN3L N(!P14 POTEM NFE2L2 %NF595 "1orf94 (!!/33 %NF676 PYHIN1 *R512 S100A7 !PL10( %NF268 P/.3CA %NF492 POSTN POTE) 1$R49 IT)#(1 "MTM5 TRH$E 1$R64 !BM10 !EG1# SNT)1 "FH!3 *R4"3 *R8H2 N! N1 "NB$1 !EG3A TMT"1 *R8H3 H* A1 .EAP1 *R4A5 *R2A2 ASTN2 *R2A5 PSG11 "DH17 *R5.3 N(!P5 EPHA7 &*(H1 *R5T3 EPHA6 "DH10 *R2T4 "DH12 *R8.5 SET$2 *R5&1 02AF1 (CE2B *R5(1 !AL'( !PS16 SNX24 *R5J2 PHF14 (CE1F ELTD1 %1/NT *R4(1 SAT#2 STK11 &STL5 INHBA %NF98 P!/M2 T# 22 *R8I2 PNLIP V1C2 % E)&! EMG1 M0"7 /&NA6 S)"% N!)3 E$/L3 #RA& .RAS !GS7 "D1A $!$2 H#)2 APCS PSG2 %## P!#2 NAV3 SELE "D96 "D5( $( 5 TSLP ($#2 (SP1 TP53 $/*2 %/"4 (UM !IT1 #2M TNR A4494ic !B1 fraction C7 0.5 2.0 3.5 -log10(728alue) Other non syn.