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  A B C D E F G H I J K L M N O P Q R S T U V W X Y Z AA AB AC AD AE AF AG AH AI AJ
1 Table S6: List of gene mutations identified with NGS in tumor samples
2 Case ID hmGBC vs
non-hm
tumors
Site of primary
disease
chr pos type ref length genotype pvalue coverage Coverage+ Coverage- ref
coverage
Var
coverage
Var Cov+ Var Cov- frequency
ref
frequency
Var
maf gene
symbol
dbsnp transcript location function codon exon protein coding sift polyphen grantham 5000
Exomes
clinvar cosmic phylop
3 CH002 hmGBC Gallbladder 9 133738405 SNV G 1 G/A 0,00001 996 445 551 908 88 41 47 0,91 0,09   ABL1   NM_007313.2 exonic missense ACC 4 p.Ala288Thr c.862G>A   1 58       2.88
4 CH002 hmGBC Gallbladder 9 133738321 SNV G 1 G/A 0,00000 866 474 392 780 86 51 35 0,90 0,10   ABL1   NM_007313.2 exonic missense AAC 4 p.Asp260Asn c.778G>A   0.991 23       2.88
5 CH002 hmGBC Gallbladder 12 46246434 SNV G 1 G/A 0,00000 1885 784 1101 1641 244 108 136 0,87 0,13   ARID2   NM_152641.2 exonic missense ACA 15 p.Ala1510Thr c.4528G>A 0.09 0.002 58       1.54
6 CH002 hmGBC Gallbladder 3 52440891 SNV T 1 T/C 0,00000 1998 947 1051 1784 214 93 121 0,89 0,11   BAP1   NM_004656.3 exonic missense GAG 8 p.Lys205Glu c.613A>G 0.03 0.973 56       2.32
7 CH002 hmGBC Gallbladder 17 41245129 SNV C 1 C/T 0,00002 1995 1076 919 1843 152 82 70 0,92 0,08   BRCA1 rs80357240 NM_007300.3 exonic missense ACA 10 p.Ala807Thr c.2419G>A 0.08 0.14 58       0.74
8 CH002 hmGBC Gallbladder 17 41244034 SNV C 1 C/T 0,00001 1999 1596 403 1844 155 141 14 0,92 0,08   BRCA1   NM_007300.3 exonic missense AAA 10 p.Glu1172Lys c.3514G>A   0.969 56       2.76
9 CH002 hmGBC Gallbladder 17 41243505 SNV C 1 C/T 0,00000 1581 584 997 1450 131 44 87 0,92 0,08   BRCA1 rs80357727 NM_007300.3 exonic missense GAA 10 p.Gly1348Glu c.4043G>A 0.44 0.001 98       -0.18
10 CH002 hmGBC Gallbladder 13 32907482 SNV A 1 A/C 0,00000 1686 870 816 1518 168 85 83 0,90 0,10   BRCA2   NM_000059.3 exonic missense CAT 10 p.Asn623His c.1867A>C 0.01 0.965 68       -0.25
11 CH002 hmGBC Gallbladder 2 202131256 SNV G 1 G/A 0,00000 1448 857 591 1305 143 86 57 0,90 0,10   CASP8   NM_001080125.1 exonic missense AAT 2 p.Ser75Asn c.224G>A 0.46 0.309 46       0.59
12 CH002 hmGBC Gallbladder 9 5466794 SNV G 1 G/A 0,00000 1993 914 1060 1838 136 32 104 0,92 0,07   CD274   NM_014143.3 exonic missense TAT 6 p.Cys272Tyr c.815G>A   0.162 194       2.61
13 CH002 hmGBC Gallbladder 9 5463001 SNV G 1 G/A 0,00000 1272 795 477 1061 211 133 78 0,83 0,17   CD274   NM_014143.3 exonic missense AAG 4 p.Glu188Lys c.562G>A 0.06 0.006 56     487489 0.39
14 CH002 hmGBC Gallbladder 9 5462837 SNV C 1 C/T 0,00000 1819 844 975 1605 214 105 109 0,88 0,12   CD274   NM_014143.3 exonic missense CTA 4 p.Pro133Leu c.398C>T   1 98       2.94
15 CH002 hmGBC Gallbladder 9 5457114 SNV G 1 G/A 0,00000 1728 952 776 1542 186 96 90 0,89 0,11   CD274   NM_014143.3 exonic missense ATA 3 p.Val30Ile c.88G>A 0.24 0.092 29       0.82
16 CH002 hmGBC Gallbladder 2 87017748 SNV C 1 C/T 0,00000 1275 405 870 1162 113 37 76 0,91 0,09   CD8A   NM_171827.3 exonic missense AGC 2 p.Gly36Ser c.106G>A   0.905 56       1.17
17 CH002 hmGBC Gallbladder 2 87042804 SNV G 1 G/A 0,00000 1134 602 532 1024 110 62 48 0,90 0,10   CD8B   NM_172213.3 exonic nonsense TAA 6 p.Gln220Ter c.658C>T           1690767 -0.88
18 CH002 hmGBC Gallbladder 2 87042782 SNV C 1 C/T 0,00000 1175 648 527 1072 103 62 41 0,91 0,09   CD8B   NM_172213.3 exonic missense AAC 6 p.Ser227Asn c.680G>A   0.712 46       0.42
19 CH002 hmGBC Gallbladder 7 55241687 SNV T 1 T/C 0,00000 1998 1074 924 1831 167 90 77 0,92 0,08   EGFR   NM_005228.3 exonic missense TCC 18 p.Phe712Ser c.2135T>C   0.997 155     1451575:28601 2.22
20 CH002 hmGBC Gallbladder 7 55211055 SNV C 1 C/T 0,00001 1999 1043 956 1845 154 70 84 0,92 0,08   EGFR   NM_005228.3 exonic missense TCT 3 p.Pro100Ser c.298C>T   0.996 74       2.66
21 CH002 hmGBC Gallbladder 12 56492668 SNV G 1 G/A 0,00001 1302 550 752 1194 108 48 60 0,92 0,08   ERBB3   NM_001982.3 exonic missense ATC 23 p.Val940Ile c.2818G>A   0.997 29       2.94
22 CH002 hmGBC Gallbladder 10 123258081 SNV C 1 C/T 0,00000 1738 765 973 1556 182 82 100 0,90 0,10   FGFR2   NM_022970.3 exonic missense AAG 12 p.Glu535Lys c.1603G>A   1 56       2.43
23 CH002 hmGBC Gallbladder 10 123310960 SNV C 1 C/T 0,00000 1421 523 898 1298 123 53 70 0,91 0,09   FGFR2   NM_022970.3 exonic nonsense TGA 5 p.Trp156Ter c.468G>A           302234:302233:302232 2.26
24 CH002 hmGBC Gallbladder 4 55602688 SNV G 1 G/A 0,00001 1897 859 1038 1750 147 70 77 0,92 0,08   KIT   NM_000222.2 exonic missense ACA 18 p.Ala837Thr c.2509G>A   1 58       2.68
25 CH002 hmGBC Gallbladder 7 151849924 SNV C 1 C/T 0,00000 864 355 509 721 143 62 81 0,83 0,17   KMT2C   NM_170606.2 exonic missense AAA 49 p.Arg4131Lys c.12392G>A   0.005 26       2.7
26 CH002 hmGBC Gallbladder 7 151873717 SNV G 1 G/A 0,00000 1095 503 592 998 97 45 52 0,91 0,09   KMT2C   NM_170606.2 exonic missense TCA 38 p.Pro2941Ser c.8821C>T 0.33 0.104 74       0.09
27 CH002 hmGBC Gallbladder 1 115258748 SNV C 1 C/T 0,00000 1999 977 1022 1788 211 107 104 0,89 0,11   NRAS rs121913250 NM_002524.4 exonic missense AGT 2 p.Gly12Ser c.34G>A 0.01 0.329 56   untested 561:562:563 2.91
28 CH002 hmGBC Gallbladder 1 115258703 SNV G 1 G/A 0,00000 2000 1053 947 1811 189 93 96 0,91 0,09   NRAS   NM_002524.4 exonic missense TAC 2 p.His27Tyr c.79C>T   0.066 83       1.53
29 CH002 hmGBC Gallbladder 1 115256511 SNV A 1 A/G 0,00000 532 288 244 468 64 39 25 0,88 0,12   NRAS   NM_002524.4 exonic missense ACG 3 p.Met67Thr c.200T>C   0.855 81       2.12
30 CH002 hmGBC Gallbladder 16 23646300 SNV C 1 C/T 0,00000 1693 707 986 1519 174 75 99 0,90 0,10   PALB2   NM_024675.3 exonic missense ACA 4 p.Ala523Thr c.1567G>A 0.42 0.008 58       -1.76
31 CH002 hmGBC Gallbladder 16 23641218 SNV G 1 G/A 0,00000 1516 741 775 1383 133 59 74 0,91 0,09   PALB2 rs180177110 NM_024675.3 exonic nonsense TGA 5 p.Arg753Ter c.2257C>T         pathogenic   0.41
32 CH002 hmGBC Gallbladder 16 23646990 SNV C 1 C/T 0,00000 1113 566 547 943 170 89 81 0,85 0,15   PALB2   NM_024675.3 exonic missense AGC 4 p.Gly293Ser c.877G>A 0.16 0.041 56       -0.11
33 CH002 hmGBC Gallbladder 16 23647010 SNV G 1 G/A 0,00000 1127 543 584 974 153 69 84 0,86 0,14   PALB2   NM_024675.3 exonic missense CTT 4 p.Pro286Leu c.857C>T   0.275 98       1.41
34 CH002 hmGBC Gallbladder 2 242794856 SNV C 1 C/T 0,00000 1999 995 1004 1831 168 76 92 0,92 0,08   PDCD1   NM_005018.2 exonic missense AAC 2 p.Ser118Asn c.353G>A   0.998 46       2.28
35 CH002 hmGBC Gallbladder 4 55144567 SNV G 1 G/A 0,00000 742 298 444 641 101 37 64 0,86 0,14   PDGFRA   NM_006206.4 exonic missense AAT 15 p.Asp681Asn c.2041G>A   0.982 23     1056069 2.88
36 CH002 hmGBC Gallbladder 9 98218625 SNV G 1 G/A 0,00000 1158 715 443 1049 109 77 32 0,91 0,09   PTCH1   NM_000264.3 exonic missense GTC 19 p.Ala1080Val c.3239C>T   1 64     1463839:1463838:1463840:1463841 2.51
37 CH002 hmGBC Gallbladder 17 7579589 SNV G 1 G/A 0,00000 692 320 353 614 59 29 30 0,89 0,09   TP53   NM_000546.5 exonic missense TTC 4 p.Ser33Phe c.98C>T 0.12 0.005 155     290545:290546:290547:46247 -0.13
38 CH002 hmGBC Gallbladder 19 31768376 SNV C 1 C/T 0,00000 1313 550 763 1184 129 54 75 0,90 0,10   TSHZ3   NM_020856.2 exonic missense AAC 2 p.Asp775Asn c.2323G>A 0.01 0.608 23     403373:403374 2.5
39 CH018 hmGBC Gallbladder 2 158594986 SNV C 1 C/T 0,00000 593 236 357 492 101 52 49 0,83 0,17   ACVR1   NM_001111067.2 exonic missense AAG 10 p.Arg454Lys c.1361G>A   0.93 26       2.7
40 CH018 hmGBC Gallbladder 1 27106919 SNV G 1 G/A 0,00000 1129 498 631 968 161 70 91 0,86 0,14   ARID1A   NM_006015.4 exonic missense GAG 20 p.Gly2177Glu c.6530G>A   1 98       2.77
41 CH018 hmGBC Gallbladder 12 46246344 SNV G 1 G/A 0,00000 887 430 457 734 153 85 68 0,83 0,17   ARID2   NM_152641.2 exonic missense AGA 15 p.Gly1480Arg c.4438G>A   1 125       2.87
42 CH018 hmGBC Gallbladder 1 235345338 SNV C 1 C/T 0,00004 1006 706 300 921 85 56 29 0,92 0,08   ARID4B   NM_016374.5 exonic missense AAG 20 p.Glu966Lys c.2896G>A   0.799 56       2.65
43 CH018 hmGBC Gallbladder 11 46678659 SNV C 1 C/T 0,00000 1998 1202 796 1799 199 126 73 0,90 0,10   ATG13   NM_001205119.1 exonic missense TGT 8 p.Arg172Cys c.514C>T   0.424 180     927248:927247 2.75
44 CH018 hmGBC Gallbladder 11 46671794 SNV C 1 C/T 0,00000 935 541 394 842 93 44 49 0,90 0,10   ATG13   NM_001205119.1 exonic missense TTT 6 p.Leu129Phe c.385C>T   0.926 22       2.67
45 CH018 hmGBC Gallbladder 11 46690380 SNV C 1 C/T 0,00000 975 484 491 827 148 75 73 0,85 0,15   ATG13   NM_001205119.1 exonic missense TTC 16 p.Leu456Phe c.1366C>T 0.01 0.996 22       2.83
46 CH018 hmGBC Gallbladder 11 46678681 SNV C 1 C/T 0,00000 1999 1188 811 1804 195 106 89 0,90 0,10   ATG13   NM_001205119.1 exonic missense CTT 8 p.Pro179Leu c.536C>T   0.579 98     229195 2.75
47 CH018 hmGBC Gallbladder 3 142168353 SNV C 1 C/T 0,00000 777 469 308 684 93 53 40 0,88 0,12   ATR   NM_001184.3 exonic missense GAA 47 p.Gly2618Glu c.7853G>A   1 98     48248 2.59
48 CH018 hmGBC Gallbladder X 76937417 SNV C 1 C/T 0,00000 531 273 258 428 103 50 53 0,81 0,19   ATRX   NM_000489.4 exonic missense AAT 9 p.Asp1111Asn c.3331G>A   0.997 23       2.3
49 CH018 hmGBC Gallbladder X 76937455 SNV C 1 C/T 0,00000 531 260 271 384 147 69 78 0,72 0,28   ATRX   NM_000489.4 exonic missense GAA 9 p.Gly1098Glu c.3293G>A 1   98       -0.31
50 CH018 hmGBC Gallbladder 3 52440909 SNV C 1 C/T 0,00000 1410 659 751 1179 231 91 140 0,84 0,16   BAP1   NM_004656.3 exonic missense AAC 8 p.Asp199Asn c.595G>A 0.07 0.009 23       2.88
51 CH018 hmGBC Gallbladder 3 52441232 SNV G 1 G/A 0,00002 319 180 139 283 36 24 12 0,89 0,11   BAP1   NM_004656.3 exonic missense TTC 7 p.Leu180Phe c.538C>T   1 22       2.88
52 CH018 hmGBC Gallbladder 3 52437269 SNV C 1 C/T 0,00000 1495 853 642 1370 125 77 48 0,92 0,08   BAP1   NM_004656.3 exonic missense AAC 14 p.Ser592Asn c.1775G>A 0.32   46       -0.85
53 CH018 hmGBC Gallbladder X 39923637 SNV C 1 C/T 0,00002 689 239 450 625 64 23 41 0,91 0,09   BCOR   NM_001123385.1 exonic missense ATG 7 p.Val1152Met c.3454G>A 0.01 0.003 21       0.1
54 CH018 hmGBC Gallbladder 7 140453115 SNV G 1 G/A 0,00000 1994 1221 773 1809 185 109 76 0,91 0,09   BRAF   NM_004333.4 exonic missense TTC 15 p.Ser607Phe c.1820C>T   0.998 155       2.69
55 CH018 hmGBC Gallbladder 17 41245258 SNV C 1 C/T 0,00001 788 375 413 716 72 32 40 0,91 0,09   BRCA1   NM_007300.3 exonic missense ATA 10 p.Val764Ile c.2290G>A 0.23 0.016 29       -0.41
56 CH018 hmGBC Gallbladder 17 41226405 SNV C 1 C/T 0,00000 1994 843 1151 1801 193 81 112 0,90 0,10   BRCA1 rs80357277 NM_007300.3 exonic missense AAA 15 p.Glu1561Lys c.4681G>A 0.47   56       0.36
57 CH018 hmGBC Gallbladder 17 41243940 SNV C 1 C/T 0,00000 1054 613 441 944 110 62 48 0,90 0,10   BRCA1 rs55930959 NM_007300.3 exonic missense CAA 10 p.Arg1203Gln c.3608G>A 1   43   untested   -1.62
58 CH018 hmGBC Gallbladder 17 41244202 SNV C 1 C/T 0,00000 1127 403 724 1008 119 43 76 0,89 0,11   BRCA1 rs80358336:rs55909400 NM_007300.3 exonic missense ATA 10 p.Val1116Ile c.3346G>A 0.16 0.001 29 AMAF=2.0E-4:EMAF=0.0:GMAF=1.0E-4     0.02
59 CH018 hmGBC Gallbladder 17 41246187 SNV C 1 C/T 0,00000 1201 496 705 1069 132 46 86 0,89 0,11   BRCA1 rs80357181:rs80357969 NM_007300.3 exonic missense AAT 10 p.Ser454Asn c.1361G>A 0.56 0.016 46 AMAF=2.0E-4:EMAF=0.0:GMAF=1.0E-4 untested   -0.53
60 CH018 hmGBC Gallbladder 17 41246550 SNV G 1 G/A 0,00000 1287 713 574 1145 142 85 57 0,89 0,11   BRCA1 rs80359872 NM_007300.3 exonic missense ATT 10 p.Thr333Ile c.998C>T 0.16 0.033 89       0.09
61 CH018 hmGBC Gallbladder 17 41246211 SNV C 1 C/T 0,00000 1250 484 766 1106 144 49 95 0,88 0,12   BRCA1 rs80357978 NM_007300.3 exonic missense AAA 10 p.Arg446Lys c.1337G>A 0.02 0.152 26     1302867 2.32
62 CH018 hmGBC Gallbladder 17 41226519 SNV G 1 G/A 0,00000 786 376 410 692 94 34 60 0,88 0,12   BRCA1 rs80357383 NM_007300.3 exonic missense TCA 15 p.Pro1523Ser c.4567C>T 0.28   74   untested   1.43
63 CH018 hmGBC Gallbladder 17 41243946 SNV C 1 C/T 0,00000 1057 613 444 930 127 74 53 0,88 0,12   BRCA1   NM_007300.3 exonic missense GAT 10 p.Gly1201Asp c.3602G>A 0.04 0.021 94       -0.12
64 CH018 hmGBC Gallbladder 17 41245290 SNV C 1 C/T 0,00000 846 356 490 724 122 47 75 0,86 0,14   BRCA1   NM_007300.3 exonic missense AAT 10 p.Ser753Asn c.2258G>A 0.08 0.016 46       0.77
65 CH018 hmGBC Gallbladder 17 41215917 SNV C 1 C/T 0,00000 1389 651 738 1184 205 106 99 0,85 0,15   BRCA1 rs80357874 NM_007300.3 exonic missense GAA 18 p.Gly1730Glu c.5189G>A   0.996 98       2.76
66 CH018 hmGBC Gallbladder 17 41246098 SNV C 1 C/T 0,00000 1126 417 709 952 174 66 108 0,85 0,15   BRCA1 rs80357304 NM_007300.3 exonic missense AGA 10 p.Gly484Arg c.1450G>A 0.02 0.477 125       0.56
67 CH018 hmGBC Gallbladder 17 41258473 SNV C 1 C/T 0,00000 361 262 99 303 58 31 27 0,84 0,16   BRCA1 rs80356913 NM_007300.3 exonic missense AAG 4 p.Arg71Lys c.212G>A   0.975 26   untested   2.57
68 CH018 hmGBC Gallbladder 13 32972386 SNV G 1 G/A 0,00009 1548 650 898 1429 119 47 72 0,92 0,08   BRCA2   NM_000059.3 exonic missense ACC 27 p.Ala3246Thr c.9736G>A 0.11 0.513 58       1.35
69 CH018 hmGBC Gallbladder 13 32953555 SNV G 1 G/A 0,00000 1999 954 1045 1839 160 67 93 0,92 0,08   BRCA2   NM_000059.3 exonic missense ATA 22 p.Met2952Ile c.8856G>A 0.33 0.003 10       0.34
70 CH018 hmGBC Gallbladder 13 32930594 SNV G 1 G/A 0,00000 2000 1107 893 1839 161 89 72 0,92 0,08   BRCA2   NM_000059.3 exonic missense AAT 15 p.Asp2489Asn c.7465G>A   0.942 23       1.45
71 CH018 hmGBC Gallbladder 13 32937545 SNV C 1 C/T 0,00000 2000 903 1097 1821 179 80 99 0,91 0,09   BRCA2   NM_000059.3 exonic missense TTC 18 p.Leu2736Phe c.8206C>T   1 22       2.58
72 CH018 hmGBC Gallbladder 13 32912189 SNV G 1 G/A 0,00000 1675 721 954 1512 163 73 90 0,90 0,10   BRCA2 rs80358613 NM_000059.3 exonic missense ACT 11 p.Ala1233Thr c.3697G>A 0.01 1 58   untested   0.35
73 CH018 hmGBC Gallbladder 13 32906427 SNV G 1 G/A 0,00000 1098 587 511 983 115 65 50 0,90 0,10   BRCA2   NM_000059.3 exonic missense GAG 10 p.Gly271Glu c.812G>A 0.02 0.021 98       -0.12
74 CH018 hmGBC Gallbladder 13 32906690 SNV G 1 G/A 0,00000 979 496 483 876 103 58 45 0,89 0,11   BRCA2   NM_000059.3 exonic missense AAA 10 p.Glu359Lys c.1075G>A   0.707 56     1194982:1194981 0.72
75 CH018 hmGBC Gallbladder 13 32912132 SNV G 1 G/A 0,00000 530 450 80 474 56 42 14 0,89 0,11   BRCA2   NM_000059.3 exonic missense ATG 11 p.Val1214Met c.3640G>A 0.32 0.979 21       0.17
76 CH018 hmGBC Gallbladder 13 32910821 SNV G 1 G/A 0,00000 1458 818 640 1299 159 89 70 0,89 0,11   BRCA2 rs80359328 NM_000059.3 exonic missense AAT 11 p.Asp777Asn c.2329G>A 0.01 0.027 23       0.31
77 CH018 hmGBC Gallbladder 13 32913827 SNV G 1 G/A 0,00000 741 370 371 658 83 36 47 0,89 0,11   BRCA2   NM_000059.3 exonic missense ATT 11 p.Val1779Ile c.5335G>A 0.22 0.027 29       -0.11
78 CH018 hmGBC Gallbladder 13 32972723 SNV G 1 G/A 0,00000 1053 644 409 935 118 78 40 0,89 0,11   BRCA2   NM_000059.3 exonic missense GAA 27 p.Gly3358Glu c.10073G>A 0.59 0.319 98       1.36
79 CH018 hmGBC Gallbladder 13 32914374 SNV G 1 G/A 0,00000 1201 536 665 1066 135 63 72 0,89 0,11   BRCA2 rs80358820 NM_000059.3 exonic missense AAT 11 p.Ser1961Asn c.5882G>A 0.61 0.001 46   unknown   0.12
80 CH018 hmGBC Gallbladder 13 32937320 SNV G 1 G/A 0,00000 1935 1020 915 1714 221 112 109 0,89 0,11   BRCA2   NM_000059.3 exonic missense AAT 18 p.Asp2661Asn c.7981G>A   1 23       2.45
81 CH018 hmGBC Gallbladder 13 32906748 SNV G 1 G/A 0,00000 954 440 514 842 112 47 65 0,88 0,12   BRCA2   NM_000059.3 exonic missense AAT 10 p.Ser378Asn c.1133G>A 0.99   46       -1.19
82 CH018 hmGBC Gallbladder 13 32912028 SNV G 1 G/A 0,00000 554 502 52 487 67 55 12 0,88 0,12   BRCA2   NM_000059.3 exonic missense AAC 11 p.Ser1179Asn c.3536G>A 0.21 0.056 46       0.76
83 CH018 hmGBC Gallbladder 13 32912061 SNV G 1 G/A 0,00000 566 502 64 496 70 54 16 0,88 0,12   BRCA2 rs80358605:rs80359390 NM_000059.3 exonic missense CAG 11 p.Arg1190Gln c.3569G>A 1   43   unknown   0.49
84 CH018 hmGBC Gallbladder 13 32906694 SNV C 1 C/T 0,00000 970 483 487 830 140 62 78 0,86 0,14   BRCA2   NM_000059.3 exonic missense CTA 10 p.Pro360Leu c.1079C>T 0.36 0.001 98       0.7
85 CH018 hmGBC Gallbladder 13 32907404 SNV G 1 G/A 0,00000 670 339 331 558 112 48 64 0,83 0,17   BRCA2 rs80358461 NM_000059.3 exonic missense AAA 10 p.Glu597Lys c.1789G>A 0.14 0.002 56       -0.14
86 CH018 hmGBC Gallbladder 13 32914082 SNV G 1 G/A 0,00000 754 324 430 600 154 66 88 0,80 0,20   BRCA2   NM_000059.3 exonic missense AAC 11 p.Asp1864Asn c.5590G>A     23       0.41
87 CH018 hmGBC Gallbladder 13 32972561 SNV G 1 G/A 0,00000 401 157 244 317 84 29 55 0,79 0,21   BRCA2   NM_000059.3 exonic missense TAT 27 p.Cys3304Tyr c.9911G>A   0.998 194     432322:432323 2.62
88 CH018 hmGBC Gallbladder 9 5457351 SNV G 1 G/A 0,00000 801 347 454 724 77 44 33 0,90 0,10   CD274   NM_014143.3 exonic missense ACA 3 p.Ala109Thr c.325G>A 0.01 0.999 58       2.71
89 CH018 hmGBC Gallbladder 9 5457310 SNV G 1 G/A 0,00000 805 389 416 728 77 40 37 0,90 0,10   CD274   NM_014143.3 exonic missense GAA 3 p.Gly95Glu c.284G>A   1 98       2.71
90 CH018 hmGBC Gallbladder 9 5463079 SNV T 1 T/A 0,00000 1452 751 701 1323 129 64 65 0,91 0,09   CD274   NM_014143.3 exonic missense ATA 4 p.Leu214Ile c.640T>A 0.29 0.003 5       -0.77
91 CH018 hmGBC Gallbladder 9 5457203 SNV G 1 G/A 0,00000 997 493 504 756 241 119 122 0,76 0,24   CD274   NM_014143.3 exonic missense ATA 3 p.Met59Ile c.177G>A 0.06 0.2 10       1.53
92 CH018 hmGBC Gallbladder 9 5466827 SNV G 1 G/A 0,00000 1994 1270 724 1820 174 98 76 0,91 0,09   CD274   NM_014143.3 exonic missense AAT 6 p.Ser283Asn c.848G>A 1   46       0.39
93 CH018 hmGBC Gallbladder 2 87017666 SNV G 1 G/A 0,00000 1536 976 560 1372 164 113 51 0,89 0,11   CD8A   NM_171827.3 exonic missense GTC 2 p.Ala63Val c.188C>T 0.05   64       -0.56
94 CH018 hmGBC Gallbladder 2 87017726 SNV C 1 C/T 0,00000 1711 744 967 1521 190 69 121 0,89 0,11   CD8A   NM_171827.3 exonic missense TAC 2 p.Cys43Tyr c.128G>A   1 194       2.42
95 CH018 hmGBC Gallbladder 2 87085204 SNV C 1 C/T 0,00000 1997 1047 950 1802 195 94 101 0,90 0,10   CD8B   NM_172213.3 exonic missense AGG 2 p.Gly127Arg c.379G>A   1 125       0.89
96 CH018 hmGBC Gallbladder 2 87085197 SNV C 1 C/T 0,00000 1997 1075 922 1805 192 91 101 0,90 0,10   CD8B   NM_172213.3 exonic missense GAA 2 p.Gly129Glu c.386G>A   1 98       2.09
97 CH018 hmGBC Gallbladder 2 87085421 SNV C 1 C/T 0,00000 935 401 534 813 122 51 71 0,87 0,13   CD8B   NM_172213.3 exonic nonsense TGA 2 p.Trp54Ter c.162G>A             2.06
98 CH018 hmGBC Gallbladder 20 40050039 SNV G 1 G/A 0,00000 604 274 330 505 99 43 56 0,84 0,16   CHD6   NM_032221.4 exonic nonsense TAG 31 p.Gln1746Ter c.5236C>T             2.76
99 CH018 hmGBC Gallbladder 20 40050098 SNV G 1 G/A 0,00000 624 231 393 519 105 38 67 0,83 0,17   CHD6   NM_032221.4 exonic missense ATC 31 p.Thr1726Ile c.5177C>T 0.16   89       -0.06
100 CH018 hmGBC Gallbladder 22 29091716 SNV C 1 C/T 0,00000 1039 696 343 947 92 58 34 0,91 0,09   CHEK2   NM_001005735.1 exonic missense GAA 12 p.Gly457Glu c.1370G>A   1 98       2.71
101 CH018 hmGBC Gallbladder 22 29091771 SNV G 1 G/A 0,00000 1117 608 509 1010 107 56 51 0,90 0,10   CHEK2   NM_001005735.1 exonic missense TTT 12 p.Leu439Phe c.1315C>T 0.05 0.632 22       2.71
102 CH018 hmGBC Gallbladder 22 29130510 SNV G 1 G/A 0,00000 675 339 336 608 67 25 42 0,90 0,10   CHEK2   NM_001005735.1 exonic missense TTC 2 p.Ser67Phe c.200C>T 0.02 0.996 155       2.7
103 CH018 hmGBC Gallbladder 22 29091857 SNV G 1 G/A 0,00000 1050 465 585 931 119 35 84 0,89 0,11   CHEK2   NM_001005735.1 exonic missense ATT 12 p.Thr410Ile c.1229C>T   0.946 89       2.79
104 CH018 hmGBC Gallbladder 2 25467497 SNV G 1 G/A 0,00000 914 482 432 828 86 53 33 0,91 0,09   DNMT3A   NM_022552.4 exonic nonsense TAG 14 p.Gln527Ter c.1579C>T             2.66
105 CH018 hmGBC Gallbladder 5 158250283 SNV C 1 C/T 0,00000 816 368 448 699 117 42 75 0,86 0,14   EBF1   NM_024007.3 exonic missense ACA 8 p.Ala227Thr c.679G>A   0.085 58       2.56
106 CH018 hmGBC Gallbladder 5 158250244 SNV G 1 G/A 0,00000 817 414 403 731 86 37 49 0,89 0,11   EBF1   NM_024007.3 exonic missense TAT 8 p.His240Tyr c.718C>T   0.975 83       2.56
107 CH018 hmGBC Gallbladder 5 158250280 SNV C 1 C/T 0,00000 823 377 446 705 118 43 75 0,86 0,14   EBF1   NM_024007.3 exonic missense ATC 8 p.Val228Ile c.682G>A 0.09 0.011 29       2.56
108 CH018 hmGBC Gallbladder 17 37880208 SNV C 1 C/T 0,00005 1477 702 775 1361 116 48 68 0,92 0,08   ERBB2   NM_004448.3 exonic missense GTC 19 p.Ala751Val c.2252C>T   1 64       1.23
109 CH018 hmGBC Gallbladder 17 37880183 SNV G 1 G/A 0,00000 1511 779 732 1383 128 62 66 0,92 0,08   ERBB2   NM_004448.3 exonic missense AGG 19 p.Gly743Arg c.2227G>A   1 125       2.48
110 CH018 hmGBC Gallbladder 12 56492623 SNV G 1 G/A 0,00000 1135 543 592 1035 100 55 45 0,91 0,09   ERBB3   NM_001982.3 exonic missense AAG 23 p.Glu925Lys c.2773G>A   1 56       2.94
111 CH018 hmGBC Gallbladder 7 148513842 SNV C 1 C/T 0,00000 1957 960 997 1756 201 109 92 0,90 0,10   EZH2   NM_004456.4 exonic missense AAC 12 p.Ser480Asn c.1439G>A 0.01 0.715 46       2.52
112 CH018 hmGBC Gallbladder 10 123310926 SNV C 1 C/T 0,00000 1743 654 1089 1603 140 47 93 0,92 0,08   FGFR2   NM_022970.3 exonic missense ACT 5 p.Ala168Thr c.502G>A   0.855 58       2.26
113 CH018 hmGBC Gallbladder 10 123258026 SNV C 1 C/T 0,00007 1292 679 613 1189 103 53 50 0,92 0,08   FGFR2   NM_022970.3 exonic missense GAA 12 p.Gly553Glu c.1658G>A   1 98       2.32
114 CH018 hmGBC Gallbladder 10 123258069 SNV T 1 T/C 0,00000 1274 583 691 1055 219 109 110 0,83 0,17   FGFR2   NM_022970.3 exonic missense GTG 12 p.Met539Val c.1615A>G   0.994 21       1.97
115 CH018 hmGBC Gallbladder 10 123239450 SNV G 1 G/A 0,00000 138 65 73 56 82 38 44 0,41 0,59   FGFR2   NM_022970.3 exonic missense TTT 18 p.Ser797Phe c.2390C>T   1 155       2.87
116 CH018 hmGBC Gallbladder 1 65323399 SNV CC 1 CC/CT 0,00000 1998 1158 840 1738 144 73 71 0,87 0,07   JAK1   NM_002227.2 exonic missense AAG 10 p.Arg466Lys c.1397G>A 0.02 0.994 26       -0.12,2.72
117 CH018 hmGBC Gallbladder 1 65323380 SNV C 1 C/T 0,00000 1997 1188 809 1827 170 85 85 0,91 0,09   JAK1   NM_002227.2 exonic missense AAC 10 p.Asp473Asn c.1417G>A 1   23       2.72
118 CH018 hmGBC Gallbladder 1 65344756 SNV G 1 G/A 0,00000 2000 1006 994 1840 160 82 78 0,92 0,08   JAK1   NM_002227.2 exonic missense ATC 4 p.Thr94Ile c.281C>T 0.81   89       0.31
119 CH018 hmGBC Gallbladder 4 55968564 SNV C 1 C/T 0,00000 432 277 155 354 78 53 25 0,82 0,18   KDR   NM_002253.2 exonic nonsense TAG 14 p.Trp700Ter c.2099G>A             2.86
120 CH018 hmGBC Gallbladder 4 55561767 SNV G 1 G/A 0,00000 509 215 294 352 157 71 86 0,69 0,31   KIT   NM_000222.2 exonic missense AAG 2 p.Glu53Lys c.157G>A 0.72 0.02 56       -0.3
121 CH018 hmGBC Gallbladder 7 151873699 SNV G 1 G/A 0,00000 1317 661 656 1191 126 64 62 0,90 0,10   KMT2C rs183109642 NM_170606.2 exonic missense TCA 38 p.Pro2947Ser c.8839C>T 0.03 0.435 74       1.18
122 CH018 hmGBC Gallbladder 12 49422855 SNV G 1 G/A 0,00000 582 435 147 471 111 87 24 0,81 0,19   KMT2D   NM_003482.3 exonic missense GTC 44 p.Ala4747Val c.14240C>T 0.1 0.001 64       1.22
123 CH018 hmGBC Gallbladder 12 49418643 SNV C 1 C/T 0,00000 910 281 629 798 112 40 72 0,88 0,12   KMT2D   NM_003482.3 exonic missense AAG 49 p.Glu5291Lys c.15871G>A   1 56       2.69
124 CH018 hmGBC Gallbladder 12 49418646 SNV C 1 C/T 0,00000 902 269 633 796 106 33 73 0,88 0,12   KMT2D   NM_003482.3 exonic missense AGC 49 p.Gly5290Ser c.15868G>A   1 56       2.69
125 CH018 hmGBC Gallbladder 12 49418622 SNV C 1 C/T 0,00000 937 386 551 817 120 63 57 0,87 0,13   KMT2D   NM_003482.3 exonic missense ATG 49 p.Val5298Met c.15892G>A 0.02 1 21     249288:249289 2.69
126 CH018 hmGBC Gallbladder 3 37067215 SNV G 1 G/A 0,00000 1166 493 673 1059 107 47 60 0,91 0,09   MLH1 rs63750305 NM_000249.3 exonic missense AAT 12 p.Asp376Asn c.1126G>A 0.2 0.029 23       2.67
127 CH018 hmGBC Gallbladder 3 37067308 SNV C 1 C/T 0,00000 1957 1035 922 1601 356 194 162 0,82 0,18   MLH1   NM_000249.3 exonic nonsense TAG 12 p.Gln407Ter c.1219C>T             0.64
128 CH018 hmGBC Gallbladder 3 37067180 SNV C 1 C/T 0,00000 1132 510 622 1021 111 54 57 0,90 0,10   MLH1   NM_000249.3 exonic missense ATA 12 p.Thr364Ile c.1091C>T 0.18 0.001 89       -0.21
129 CH018 hmGBC Gallbladder 5 79968171 SNV G 1 G/A 0,00000 1504 705 799 1378 126 63 63 0,92 0,08   MSH3   NM_002439.4 exonic missense AGA 5 p.Gly301Arg c.901G>A   1 125     739074:1647846 2.7
130 CH018 hmGBC Gallbladder 2 48028270 SNV G 1 G/A 0,00000 1311 686 625 1108 203 111 92 0,85 0,15   MSH6   NM_000179.2 exonic missense ACT 4 p.Ala1050Thr c.3148G>A 0.14 0.972 58       2.64
131 CH018 hmGBC Gallbladder 2 48028243 SNV G 1 G/A 0,00000 1337 727 610 1120 217 114 103 0,84 0,16   MSH6   NM_000179.2 exonic missense AAT 4 p.Asp1041Asn c.3121G>A 0.06 0.981 23       2.71
132 CH018 hmGBC Gallbladder 2 48027571 SNV G 1 G/A 0,00000 1991 888 1103 1833 158 72 86 0,92 0,08   MSH6   NM_000179.2 exonic missense AAT 4 p.Asp817Asn c.2449G>A   1 23       2.67
133 CH018 hmGBC Gallbladder 2 48027577 SNV G 1 G/A 0,00000 2000 875 1125 1729 271 106 165 0,86 0,14   MSH6   NM_000179.2 exonic missense AAG 4 p.Glu819Lys c.2455G>A   1 56       2.67
134 CH018 hmGBC Gallbladder 2 48028105 SNV G 1 G/A 0,00000 1676 914 762 1536 140 69 71 0,92 0,08   MSH6 rs63749938:rs63750258 NM_000179.2 exonic missense AAG 4 p.Glu995Lys c.2983G>A 0.01 0.992 56       2.63
135 CH018 hmGBC Gallbladder 2 48028288 SNV G 1 G/A 0,00000 1563 820 743 1367 196 89 107 0,87 0,13   MSH6   NM_000179.2 exonic missense ATG 4 p.Val1056Met c.3166G>A 0.06 0.774 21     35567 2.64
136 CH018 hmGBC Gallbladder 2 48027547 SNV G 1 G/A 0,00000 1998 920 1078 1840 158 69 89 0,92 0,08   MSH6 rs63751053 NM_000179.2 exonic missense ATA 4 p.Val809Ile c.2425G>A 0.44 0.003 29       0.35
137 CH018 hmGBC Gallbladder 19 15276842 SNV G 1 G/A 0,00000 1548 795 753 1400 148 80 68 0,90 0,10   NOTCH3   NM_000435.2 exonic missense ATT 30 p.Thr1808Ile c.5423C>T 0.13 0.019 89       1.5
138 CH018 hmGBC Gallbladder 1 115256551 SNV C 1 C/T 0,00000 686 372 314 604 82 45 37 0,88 0,12   NRAS   NM_002524.4 exonic missense AAC 3 p.Asp54Asn c.160G>A   0.884 23       2.62
139 CH018 hmGBC Gallbladder 16 23646483 SNV C 1 C/T 0,00000 1716 819 897 1555 161 86 75 0,91 0,09   PALB2   NM_024675.3 exonic missense AAA 4 p.Glu462Lys c.1384G>A 0.01 0.208 56       0.14
140 CH018 hmGBC Gallbladder 16 23646327 SNV C 1 C/T 0,00000 721 261 460 620 101 38 63 0,86 0,14   PALB2   NM_024675.3 exonic missense AGA 4 p.Gly514Arg c.1540G>A   0.145 125       0.4
141 CH018 hmGBC Gallbladder 16 23646472 SNV C 1 C/T 0,00000 1709 827 882 1569 140 74 66 0,92 0,08   PALB2   NM_024675.3 exonic missense ATA 4 p.Met465Ile c.1395G>A 0.52 0.019 10       -0.14
142 CH018 hmGBC Gallbladder 16 23647013 SNV G 1 G/A 0,00000 921 474 447 766 155 78 77 0,83 0,17   PALB2 rs180177094 NM_024675.3 exonic missense TTA 4 p.Ser285Leu c.854C>T   0.412 145   probable-non-pathogenic   0.38
143 CH018 hmGBC Gallbladder 16 23646683 SNV G 1 G/A 0,00000 1423 915 466 1271 110 65 45 0,89 0,08   PALB2   NM_024675.3 exonic missense TTT 4 p.Ser395Phe c.1184C>T   1 155       2.84
144 CH018 hmGBC Gallbladder 16 23646617 SNV G 1 G/A 0,00001 813 466 347 739 74 49 25 0,91 0,09   PALB2 rs45510998 NM_024675.3 exonic missense TTC 4 p.Ser417Phe c.1250C>T   1 155       2.84
145 CH018 hmGBC Gallbladder 16 23646524 SNV C 1 C/T 0,00000 1690 763 927 1533 157 80 77 0,91 0,09   PALB2   NM_024675.3 exonic missense AAT 4 p.Ser448Asn c.1343G>A 0.15 0.002 46       0.41
146 CH018 hmGBC Gallbladder 2 242794967 MNV GC 2 GC/AT 0,00000 496 298 198 452 21 16 7 0,91 0,09   PDCD1   NM_005018.2 exonic missense   2 p.Ala81Ile c.241_242delGCinsAT 0.01 1 94       2.27,0.42
147 CH018 hmGBC Gallbladder 2 242793367 SNV G 1 G/A 0,00000 1945 1099 846 1777 168 102 66 0,91 0,09   PDCD1   NM_005018.2 exonic missense CTC 5 p.Pro237Leu c.710C>T 0.35 0.137 98       2.07
148 CH018 hmGBC Gallbladder 2 242795096 SNV G 1 G/A 0,00000 802 337 465 697 105 37 68 0,87 0,13   PDCD1   NM_005018.2 exonic missense TTC 2 p.Ser38Phe c.113C>T 0.09 0.001 155       -0.61
149 CH018 hmGBC Gallbladder 4 55144615 SNV C 1 C/T 0,00000 803 317 486 688 115 49 66 0,86 0,14   PDGFRA   NM_006206.4 exonic missense TAC 15 p.His697Tyr c.2089C>T 0.38 0.991 83       2.88
150 CH018 hmGBC Gallbladder 4 41750603 SNV G 1 G/A 0,00000 304 119 185 210 94 38 56 0,69 0,31   PHOX2B   NM_003924.3 exonic missense TTC 1 p.Leu9Phe c.25C>T   0.999 22       2.69
151 CH018 hmGBC Gallbladder 3 178921479 SNV G 1 G/A 0,00000 444 222 222 335 109 62 47 0,75 0,25   PIK3CA   NM_006218.2 exonic missense AAA 5 p.Glu321Lys c.961G>A 1 0.094 56       2.69
152 CH018 hmGBC Gallbladder 3 178936091 SNV G 1 G/A 0,00000 1874 1027 847 1311 563 300 263 0,70 0,30   PIK3CA rs104886003 NM_006218.2 exonic missense AAG 10 p.Glu545Lys c.1633G>A   0.991 56   other:pathogenic 763:27133:295672:125370 2.72
153 CH018 hmGBC Gallbladder 3 178952072 SNV A 1 A/G 0,00000 397 247 150 348 49 29 20 0,88 0,12   PIK3CA   NM_006218.2 exonic missense GTG 21 p.Met1043Val c.3127A>G   0.065 21     94983:12591 2.33
154 CH018 hmGBC Gallbladder 12 133249767 SNV G 1 G/A 0,00000 1114 585 529 776 338 175 163 0,70 0,30   POLE   NM_006231.3 exonic missense TCC 14 p.Pro486Ser c.1456C>T   0.999 74       2.52
155 CH018 hmGBC Gallbladder 8 117859813 SNV C 1 C/T 0,00000 1425 820 605 1186 239 140 99 0,83 0,17   RAD21   NM_006265.2 exonic missense ACT 14 p.Ala608Thr c.1822G>A 0.04 0.997 58       2.88
156 CH018 hmGBC Gallbladder 5 131925419 SNV G 1 G/A 0,00000 312 131 181 266 46 19 27 0,85 0,15   RAD50   NM_005732.3 exonic missense AAA 9 p.Glu448Lys c.1342G>A 0.32 0.209 56       2.75
157 CH018 hmGBC Gallbladder 2 109381701 SNV C 1 C/T 0,00000 623 251 372 522 101 43 58 0,84 0,16   RANBP2   NM_006267.4 exonic missense CTG 20 p.Pro1569Leu c.4706C>T   0.992 98       2.31
158 CH018 hmGBC Gallbladder 2 109381722 SNV C 1 C/T 0,00000 609 232 377 514 95 40 55 0,84 0,16   RANBP2   NM_006267.4 exonic missense ATT 20 p.Thr1576Ile c.4727C>T   0.435 89       1.04
159 CH018 hmGBC Gallbladder 17 38508598 SNV C 1 C/T 0,00008 752 241 511 686 66 19 47 0,91 0,09   RARA   NM_000964.3 exonic nonsense TAA 6 p.Gln216Ter c.646C>T             2.22
160 CH018 hmGBC Gallbladder 8 108970466 SNV C 1 C/T 0,00000 1122 347 775 1024 98 22 76 0,91 0,09   RSPO2   NM_178565.4 exonic nonsense TAG 5 p.Trp153Ter c.458G>A             2.94
161 CH018 hmGBC Gallbladder 3 47059198 SNV G 1 G/A 0,00000 820 386 434 692 128 61 67 0,84 0,16   SETD2   NM_014159.6 exonic missense CTT 20 p.Pro2488Leu c.7463C>T   0.968 98       2.88
162 CH018 hmGBC Gallbladder 3 47059199 SNV G 1 G/A 0,00000 818 384 434 696 122 60 62 0,85 0,15   SETD2   NM_014159.6 exonic missense TCT 20 p.Pro2488Ser c.7462C>T   0.78 74       2.88
163 CH018 hmGBC Gallbladder 1 35650103 SNV C 1 C/T 0,00000 1998 1189 809 1836 162 100 62 0,92 0,08   SFPQ   NM_005066.2 exonic missense AAA 10 p.Arg693Lys c.2078G>A 0.01 0.982 26       2.88
164 CH018 hmGBC Gallbladder 4 25675992 SNV C 1 C/T 0,00000 772 420 352 670 102 59 43 0,87 0,13   SLC34A2   NM_006424.2 exonic nonsense TAG 11 p.Gln431Ter c.1291C>T             2.6
165 CH018 hmGBC Gallbladder 4 25676025 SNV C 1 C/T 0,00000 731 361 370 635 96 46 50 0,87 0,13   SLC34A2   NM_006424.2 exonic missense TCC 11 p.Pro442Ser c.1324C>T   0.998 74       2.6
166 CH018 hmGBC Gallbladder 16 30750413 SNV C 1 C/T 0,00000 1993 917 1076 1833 160 71 89 0,92 0,08   SRCAP   NM_006662.2 exonic missense TGG 34 p.Arg3018Trp c.9052C>T   0.999 101       0.77
167 CH018 hmGBC Gallbladder 16 30750440 SNV C 1 C/T 0,00000 1903 737 1166 1697 206 88 118 0,89 0,11   SRCAP   NM_006662.2 exonic missense TGT 34 p.Arg3027Cys c.9079C>T   0.991 180       1.43
168 CH018 hmGBC Gallbladder 16 30721411 SNV G 1 G/A 0,00000 495 180 315 389 106 42 64 0,79 0,21   SRCAP   NM_006662.2 exonic missense AAA 8 p.Glu366Lys c.1096G>A   0.319 56     417046 2.81
169 CH018 hmGBC Gallbladder 16 30749516 SNV C 1 C/T 0,00000 606 376 230 500 106 71 35 0,83 0,17   SRCAP   NM_006662.2 exonic missense TCT 34 p.Pro2719Ser c.8155C>T 0.02 0.259 74       2.63
170 CH018 hmGBC Gallbladder 16 30750368 SNV C 1 C/T 0,00000 1996 1066 930 1806 190 100 90 0,90 0,10   SRCAP   NM_006662.2 exonic missense TCC 34 p.Pro3003Ser c.9007C>T   0.437 74       1.37
171 CH018 hmGBC Gallbladder 16 30750357 SNV C 1 C/T 0,00000 1991 1097 894 1824 167 81 86 0,92 0,08   SRCAP   NM_006662.2 exonic missense TTA 34 p.Ser2999Leu c.8996C>T   0.844 145       2.78
172 CH018 hmGBC Gallbladder 16 30721358 SNV C 1 C/T 0,00000 453 208 245 245 208 96 112 0,54 0,46   SRCAP   NM_006662.2 exonic missense TTC 8 p.Ser348Phe c.1043C>T 0.02 0.002 155       0.8
173 CH018 hmGBC Gallbladder 16 30749484 SNV C 1 C/T 0,00000 595 385 210 489 106 76 30 0,82 0,18   SRCAP   NM_006662.2 exonic missense ATT 34 p.Thr2708Ile c.8123C>T 0.01 0.267 89       2.63
174 CH018 hmGBC Gallbladder 6 152737724 SNV C 1 C/T 0,00000 820 443 377 738 82 47 35 0,90 0,10   SYNE1   NM_182961.3 exonic missense ACC 41 p.Ala1950Thr c.5848G>A 0.41   58       0.38
175 CH018 hmGBC Gallbladder 6 152651158 SNV C 1 C/T 0,00000 378 128 250 283 95 26 69 0,75 0,25   SYNE1   NM_182961.3 exonic missense AAC 78 p.Asp4888Asn c.14662G>A 0.19 0.997 23       2.74
176 CH018 hmGBC Gallbladder 6 152751631 SNV C 1 C/T 0,00000 1994 1412 582 1783 211 151 60 0,89 0,11   SYNE1   NM_182961.3 exonic missense AAG 35 p.Glu1559Lys c.4675G>A 0.1 0.488 56       2.79
177 CH018 hmGBC Gallbladder 6 152542003 SNV C 1 C/T 0,00000 568 231 337 472 96 22 74 0,83 0,17   SYNE1   NM_182961.3 exonic missense ATT 119 p.Val7279Ile c.21835G>A 0.22 0.011 29       1.47
178 CH018 hmGBC Gallbladder 10 70451027 SNV C 1 C/T 0,00000 759 408 351 683 76 39 37 0,90 0,10   TET1   NM_030625.2 exonic missense CTA 12 p.Pro1956Leu c.5867C>T 0.36   98       -0.1
179 CH018 hmGBC Gallbladder 4 106193844 SNV G 1 G/A 0,00000 1270 499 771 1074 196 91 105 0,85 0,15   TET2   NM_001127208.2 exonic missense AAG 10 p.Glu1436Lys c.4306G>A 0.05 0.987 56       1.57
180 CH018 hmGBC Gallbladder 4 106156087 SNV G 1 G/A 0,00001 918 550 368 837 81 40 41 0,91 0,09   TET2   NM_001127208.2 exonic missense AAG 3 p.Glu330Lys c.988G>A 0.03 0.319 56       2.33
181 CH018 hmGBC Gallbladder 4 106193805 SNV G 1 G/A 0,00000 1330 586 744 1136 194 98 96 0,85 0,15   TET2   NM_001127208.2 exonic missense ATC 10 p.Val1423Ile c.4267G>A 0.37 0.005 29       0.13
182 CH018 hmGBC Gallbladder 4 106193814 SNV G 1 G/A 0,00000 1334 576 758 1140 194 95 99 0,85 0,15   TET2   NM_001127208.2 exonic missense ATG 10 p.Val1426Met c.4276G>A 0.16 0.254 21       0.46
183 CH018 hmGBC Gallbladder 17 7579461 SNV C 1 C/T 0,00000 571 192 379 455 116 39 77 0,80 0,20   TP53   NM_000546.5 exonic missense ACA 4 p.Ala76Thr c.226G>A 0.46 0.001 58     69022 -0.71
184 CH018 hmGBC Gallbladder 17 7579451 SNV G 1 G/A 0,00002 584 209 375 528 56 23 33 0,90 0,10   TP53   NM_000546.5 exonic missense GTT 4 p.Ala79Val c.236C>T 0.79 0.042 64     1386920:1386919:1386918:1386917:45590:1386921 0.2
185 CH018 hmGBC Gallbladder 17 7577049 SNV G 1 G/A 0,00000 1390 826 564 1254 136 75 61 0,90 0,10   TP53   NM_000546.5 exonic missense TAC 8 p.His297Tyr c.889C>T 0.01 0.002 83     45693:45494:45803 0.32
186 CH018 hmGBC Gallbladder 17 7577030 SNV C 1 C/T 0,00000 1472 921 551 1321 151 101 50 0,90 0,10   TP53   NM_000546.5 exonic missense AAC 8 p.Ser303Asn c.908G>A 0.03 0.011 46     44167:43986:437474:437475 0.37
187 CH018 hmGBC Gallbladder 17 7578380 SNV C 1 C/T 0,00000 1998 1048 950 1780 218 173 45 0,89 0,11   TP53 rs72661117 NM_000546.5 exonic missense AAT 5 p.Asp184Asn c.550G>A 0.33 0.008 23     44202:44029:43797:165081:165080:165079:165078 2.74
188 CH018 hmGBC Gallbladder 17 7577141 SNV C 1 C/A 0,00000 1039 509 530 889 150 81 69 0,86 0,14   TP53 rs193920774 NM_000546.5 exonic missense GTA 8 p.Gly266Val c.797G>T   1 109     216410:10867:10958:45488:235695:99952:1646803:1679491:48915 2.67
189 CH018 hmGBC Gallbladder 17 7577509 SNV C 1 C/T 0,00000 2000 726 1274 1710 290 104 186 0,86 0,15   TP53 rs121912652 NM_000546.5 exonic missense AAA 7 p.Glu258Lys c.772G>A   1 56   pathogenic 1679494:43575:10988:173137:173138:44909:1172462:1172461:43568:10751:437486:437487 1.27
190 CH018 hmGBC Gallbladder 17 7576855 SNV G 1 G/A 0,00000 996 580 416 851 145 77 68 0,85 0,15   TP53   NM_000546.5 exonic nonsense TAG 9 p.Gln331Ter c.991C>T           1649348:44875:289612:11354 0.56
191 CH018 hmGBC Gallbladder 17 7579418 SNV G 1 G/A 0,00000 542 239 303 424 118 57 61 0,78 0,22   TP53   NM_000546.5 exonic missense TTC 4 p.Ser90Phe c.269C>T   0.429 155     44444:46099 1.24
192 CH018 hmGBC Gallbladder 9 135804237 SNV C 1 C/T 0,00000 851 429 422 738 113 44 69 0,87 0,13   TSC1   NM_000368.4 exonic missense GAG 3 p.Gly8Glu c.23G>A 0.14 0.107 98       2.94
193 CH018 hmGBC Gallbladder 19 31769044 SNV G 1 G/A 0,00000 1769 862 907 1570 199 103 96 0,89 0,11   TSHZ3   NM_020856.2 exonic missense GTC 2 p.Ala552Val c.1655C>T   0.993 64       2.41
194 CH018 hmGBC Gallbladder 19 31768670 SNV C 1 C/T 0,00000 413 225 188 365 48 29 19 0,88 0,12   TSHZ3   NM_020856.2 exonic missense AGG 2 p.Gly677Arg c.2029G>A 0.46 0.232 125       2.57
195 CH018 hmGBC Gallbladder 19 31768627 SNV C 1 C/T 0,00000 468 290 178 376 92 57 35 0,80 0,20   TSHZ3   NM_020856.2 exonic missense GAC 2 p.Gly691Asp c.2072G>A 0.01 1 94       2.57
196 CH018 hmGBC Gallbladder 19 31768352 SNV G 1 G/A 0,00000 1100 469 631 991 109 53 56 0,90 0,10   TSHZ3   NM_020856.2 exonic missense TAC 2 p.His783Tyr c.2347C>T 0.11 0.666 83       1.26
197 CH018 hmGBC Gallbladder 17 5045328 SNV G 1 G/A 0,00000 1082 577 505 957 125 66 59 0,88 0,12   USP6   NM_004505.2 exonic missense AAC 16 p.Ser535Asn c.1604G>A 0.5 0.36 46       1.32
198 CH018 hmGBC Gallbladder 18 22804518 SNV C 1 C/T 0,00000 1083 565 518 936 147 79 68 0,86 0,14   ZNF521   NM_015461.2 exonic missense AAG 4 p.Glu1122Lys c.3364G>A 0.08 0.155 56       2.84
199 CH043 hmGBC Gallbladder 1 27106937 SNV G 1 G/A 0,00001 493 225 268 443 50 21 29 0,90 0,10   ARID1A   NM_006015.4 exonic missense CAT 20 p.Arg2183His c.6548G>A   1 29       2.77
200 CH043 hmGBC Gallbladder 1 27106870 SNV C 1 C/T 0,00000 479 256 223 415 64 42 22 0,87 0,13   ARID1A   NM_006015.4 exonic missense TCG 20 p.Pro2161Ser c.6481C>T 0.1 0.27 74       1.43
201 CH043 hmGBC Gallbladder 3 11399961 SNV G 1 G/A 0,00000 350 216 134 306 44 23 21 0,87 0,13   ATG7   NM_006395.2 exonic missense AAG 13 p.Glu452Lys c.1354G>A 0.03 0.02 56       2.62
202 CH043 hmGBC Gallbladder 3 52437308 SNV C 1 C/T 0,00000 266 136 130 230 36 21 15 0,86 0,14   BAP1   NM_004656.3 exonic missense GAG 14 p.Gly579Glu c.1736G>A 0.02   98       1.5
203 CH043 hmGBC Gallbladder 17 41256234 SNV C 1 C/T 0,00006 1817 960 857 1679 138 92 46 0,92 0,08   BRCA1   NM_007300.3 exonic missense AAA 6 p.Glu116Lys c.346G>A   1 56     79340:1383525 2.77
204 CH043 hmGBC Gallbladder 17 41245029 SNV C 1 C/T 0,00000 1214 574 640 1108 106 52 54 0,91 0,09   BRCA1   NM_007300.3 exonic missense AAT 10 p.Ser840Asn c.2519G>A 0.18 0.024 46       -0.89
205 CH043 hmGBC Gallbladder 17 41209079 INDEL T 1 T/TG 0,00000 1084 633 451 807 277 147 130 0,74 0,26   BRCA1 rs80357906 NM_007300.3 exonic frameshiftInsertion CCA 20 p.Gln1777fs c.5329_5330insC         other 35891 -0.83
206 CH043 hmGBC Gallbladder 17 41245861 SNV G 1 G/A 0,00000 1996 844 1152 1197 799 337 462 0,60 0,40   BRCA1 rs80356898 NM_007300.3 exonic nonsense TAG 10 p.Gln563Ter c.1687C>T         pathogenic   2.64
207 CH043 hmGBC Gallbladder 13 32906520 MNV CC 2 CC/TT 0,00000 452 245 207 417 35 24 11 0,92 0,08   BRCA2 rs80359158 NM_000059.3 exonic missense   10 p.Thr302Ile c.905_906delCCinsTT 0.66 0.001 89       0.08,0.34
208 CH043 hmGBC Gallbladder 13 32912189 SNV G 1 G/A 0,00000 1559 676 883 1417 142 62 80 0,91 0,09   BRCA2 rs80358613 NM_000059.3 exonic missense ACT 11 p.Ala1233Thr c.3697G>A 0.01 1 58   untested   0.35
209 CH043 hmGBC Gallbladder 13 32930712 SNV G 1 G/A 0,00007 328 168 160 293 35 21 14 0,89 0,11   BRCA2 rs80358986 NM_000059.3 exonic missense GAA 15 p.Gly2528Glu c.7583G>A 0.9 0.021 98   untested   0.04
210 CH043 hmGBC Gallbladder 19 15367047 SNV C 1 C/T 0,00006 429 261 168 386 43 18 25 0,90 0,10   BRD4   NM_058243.2 exonic missense ACC 9 p.Ala527Thr c.1579G>A   1 58       2.63
211 CH043 hmGBC Gallbladder 2 87017706 SNV G 1 G/A 0,00000 524 252 272 446 78 34 44 0,85 0,15   CD8A   NM_171827.3 exonic missense TCG 2 p.Pro50Ser c.148C>T 0.68   74       -1.76
212 CH043 hmGBC Gallbladder 2 25467449 SNV C 1 C/T 0,00000 259 161 98 224 35 23 12 0,86 0,14   DNMT3A   NM_022552.4 exonic missense AGC 14 p.Gly543Ser c.1627G>A 0.11 0.993 56     87002 1.36
213 CH043 hmGBC Gallbladder 10 123353285 SNV G 1 G/A 0,00003 376 186 190 336 40 22 18 0,89 0,11   FGFR2   NM_022970.3 exonic missense GTA 2 p.Ala16Val c.47C>T 0.04 0.624 64       2.52
214 CH043 hmGBC Gallbladder 10 123310950 SNV C 1 C/T 0,00000 377 138 239 306 71 21 50 0,81 0,19   FGFR2 rs66499770 NM_022970.3 exonic missense AAA 5 p.Glu160Lys c.478G>A   0.101 56       2.26
215 CH043 hmGBC Gallbladder 10 123310861 SNV C 1 C/T 0,00007 328 160 168 293 35 21 14 0,89 0,11   FGFR2   NM_022970.3 exonic missense ATA 5 p.Met189Ile c.567G>A 0.41 0.026 10       2.26
216 CH043 hmGBC Gallbladder 12 49445611 SNV G 1 G/A 0,00000 1054 838 187 993 32 19 13 0,94 0,06   KMT2D   NM_003482.3 exonic missense TCA 10 p.Pro619Ser c.1855C>T   0.997 74       2.51
217 CH043 hmGBC Gallbladder 19 15276878 SNV G 1 G/A 0,00001 532 221 311 477 55 21 34 0,90 0,10   NOTCH3   NM_000435.2 exonic missense GTT 30 p.Ala1796Val c.5387C>T 0.02 1 64       2.69
218 CH043 hmGBC Gallbladder 19 15276828 SNV C 1 C/T 0,00007 527 240 287 477 50 27 23 0,91 0,09   NOTCH3   NM_000435.2 exonic missense ACA 30 p.Ala1813Thr c.5437G>A 0.1 0.902 58       2.79
219 CH043 hmGBC Gallbladder 19 15272483 SNV C 1 C/T 0,00000 509 289 220 435 74 39 35 0,85 0,15   NOTCH3   NM_000435.2 exonic missense AAG 33 p.Glu1986Lys c.5956G>A   0.981 56       2.26
220 CH043 hmGBC Gallbladder 19 15303320 SNV C 1 C/T 0,00000 409 175 234 363 46 16 30 0,89 0,11   NOTCH3   NM_000435.2 exonic missense AGC 3 p.Gly70Ser c.208G>A 0.02 0.995 56       2.4
221 CH043 hmGBC Gallbladder 19 15272515 SNV G 1 G/A 0,00000 485 250 235 410 75 39 36 0,85 0,15   NOTCH3   NM_000435.2 exonic missense CTC 33 p.Pro1975Leu c.5924C>T   1 98       2.26
222 CH043 hmGBC Gallbladder 19 15303286 SNV G 1 G/A 0,00001 416 195 221 372 44 25 19 0,89 0,11   NOTCH3   NM_000435.2 exonic missense CTC 3 p.Pro81Leu c.242C>T   0.885 98       2.4
223 CH043 hmGBC Gallbladder 2 242793392 SNV G 1 G/A 0,00001 913 518 395 832 81 43 38 0,91 0,09   PDCD1   NM_005018.2 exonic nonsense TAG 5 p.Gln229Ter c.685C>T             0.83
224 CH043 hmGBC Gallbladder 4 41750512 SNV G 1 G/A 0,00000 529 276 253 456 73 45 28 0,86 0,14   PHOX2B   NM_003924.3 exonic missense GTC 1 p.Ala39Val c.116C>T 0.01 0.956 64       2.61
225 CH043 hmGBC Gallbladder 5 131976385 SNV C 1 C/T 0,00002 1997 1100 897 1844 153 70 83 0,92 0,08   RAD50   NM_005732.3 exonic missense TGC 24 p.Arg1214Cys c.3640C>T   1 180     1222999:1222998 2.94
226 CH043 hmGBC Gallbladder 4 25676004 SNV G 1 G/A 0,00003 415 211 204 372 43 24 19 0,90 0,10   SLC34A2   NM_006424.2 exonic missense ATG 11 p.Val435Met c.1303G>A   0.999 21       2.6
227 CH043 hmGBC Gallbladder 3 47651659 MNV GG 2 GG/AA 0,00000 1252 680 572 1167 44 22 22 0,93 0,07   SMARCC1   NM_003074.3 exonic missense   26 p.Ala980Val c.2939_2940delCCinsTT 0.09 0.09 64       -0.02,2.83
228 CH043 hmGBC Gallbladder 16 30721339 SNV C 1 C/T 0,00000 720 424 296 635 85 48 37 0,88 0,12   SRCAP   NM_006662.2 exonic missense TAG 8 p.Gln342Ter c.1024C>T           1172325 2.81
229 CH043 hmGBC Gallbladder 16 30750365 SNV C 1 C/T 0,00000 681 383 298 580 101 54 47 0,85 0,15   SRCAP   NM_006662.2 exonic missense TCA 34 p.Pro3002Ser c.9004C>T   0.259 74       2.66
230 CH043 hmGBC Gallbladder 16 30750405 SNV C 1 C/T 0,00000 658 332 326 556 102 53 49 0,84 0,16   SRCAP   NM_006662.2 exonic missense CTA 34 p.Pro3015Leu c.9044C>T   0.062 98       2.78
231 CH043 hmGBC Gallbladder 16 30750417 SNV C 1 C/T 0,00000 646 310 336 565 81 39 42 0,87 0,13   SRCAP   NM_006662.2 exonic missense CTC 34 p.Pro3019Leu c.9056C>T   0.009 98       2.78
232 CH043 hmGBC Gallbladder 17 7577099 SNV C 1 C/T 0,00000 386 219 167 340 46 28 18 0,88 0,12   TP53 rs121912660 NM_000546.5 exonic missense AAA 8 p.Arg280Lys c.839G>A   0.977 26     254987:10724:1659144:129830:10728:11287:1649340:46183:1646813:562340 2.67
233 CH043 hmGBC Gallbladder 9 135804194 MNV CC 2 CC/TT 0,00000 1028 542 486 956 72 48 24 0,93 0,07   TSC1 rs141736779 NM_000368.4 exonic missense   3 p.Arg22Gln c.65_66delGGinsAA 0.41 0.004 43       -3.01,0.48
234 CH120 hmGBC Gallbladder 9 133738402 SNV G 1 G/A 0,00000 1196 536 660 1006 190 78 112 0,84 0,16   ABL1   NM_007313.2 exonic missense ATG 4 p.Val287Met c.859G>A   1 21       2.88
235 CH120 hmGBC Gallbladder 3 52440867 SNV G 1 G/A 0,00000 841 460 381 739 102 54 48 0,88 0,12   BAP1   NM_004656.3 exonic missense TGT 8 p.Arg213Cys c.637C>T   1 180     51982 2.88
236 CH120 hmGBC Gallbladder 3 52440871 SNV C 1 C/T 0,00000 841 450 391 719 122 76 46 0,85 0,15   BAP1   NM_004656.3 exonic missense ATA 8 p.Met211Ile c.633G>A 0.02 0.797 10       2.88
237 CH120 hmGBC Gallbladder X 39923650 MNV GG 2 GG/AA 0,00000 488 135 353 452 36 10 26 0,93 0,07   BCOR rs145458388 NM_001123385.1 exonic missense   7 p.Thr1147Ile c.3440_3441delCCinsTT   0.411 89 AMAF=3.0E-4:EMAF=0.0:GMAF=1.0E-4     0.15,2.3
238 CH120 hmGBC Gallbladder 13 32912195 SNV C 1 C/T 0,00000 1975 728 1194 1857 65 25 40 0,94 0,06   BRCA2 rs34575057 NM_000059.3 exonic nonsense TAA 11 p.Gln1235Ter c.3703C>T             1.38
239 CH120 hmGBC Gallbladder 13 32914353 SNV C 1 C/T 0,00000 1501 704 797 1371 130 60 70 0,91 0,09   BRCA2 rs80359546 NM_000059.3 exonic missense ATT 11 p.Thr1954Ile c.5861C>T 0.04 0.492 89       2.72
240 CH120 hmGBC Gallbladder 7 151849861 SNV G 1 G/A 0,00004 1761 876 885 1626 135 58 77 0,92 0,08   KMT2C   NM_170606.2 exonic missense GTA 49 p.Ala4152Val c.12455C>T 0.04 0.013 64       2.7
241 CH120 hmGBC Gallbladder 12 49445686 SNV G 1 G/A 0,00001 641 395 246 579 62 35 27 0,90 0,10   KMT2D   NM_003482.3 exonic missense TCG 10 p.Pro594Ser c.1780C>T   0.012 74       2.44
242 CH120 hmGBC Gallbladder 2 242793269 SNV C 1 C/T 0,00000 324 129 195 277 47 21 26 0,85 0,15   PDCD1   NM_005018.2 exonic missense AGC 5 p.Gly270Ser c.808G>A 0.86 0.023 56       -1.07
243 CH120 hmGBC Gallbladder 4 41750534 SNV C 1 C/T 0,00000 985 389 596 859 126 41 85 0,87 0,13   PHOX2B   NM_003924.3 exonic missense AAC 1 p.Asp32Asn c.94G>A   1 23       2.61
244 CH120 hmGBC Gallbladder 16 30749553 SNV G 1 G/A 0,00000 745 446 299 672 73 46 27 0,90 0,10   SRCAP   NM_006662.2 exonic missense AAG 34 p.Arg2731Lys c.8192G>A 0.03 0.958 26       2.63
245 CH120 hmGBC Gallbladder 16 30749540 SNV G 1 G/A 0,00000 783 488 295 709 74 47 27 0,91 0,09   SRCAP   NM_006662.2 exonic missense AAT 34 p.Asp2727Asn c.8179G>A 0.01 0.999 23       2.63
246 CH120 hmGBC Gallbladder 19 31769036 SNV G 1 G/A 0,00000 1529 805 724 1360 169 83 86 0,89 0,11   TSHZ3   NM_020856.2 exonic nonsense TAA 2 p.Gln555Ter c.1663C>T             2.41
247 CH120 hmGBC Gallbladder 19 31768711 SNV C 1 C/T 0,00000 372 59 284 310 33 15 18 0,83 0,09   TSHZ3   NM_020856.2 exonic missense GAC 2 p.Gly663Asp c.1988G>A 0.18 0.148 94       2.48
248 CH122 hmGBC Gallbladder 9 133738306 SNV G 1 G/A 0,00005 856 523 333 781 75 38 37 0,91 0,09   ABL1   NM_007313.2 exonic missense AAG 4 p.Glu255Lys c.763G>A   1 56       2.88
249 CH122 hmGBC Gallbladder 1 27092830 SNV G 1 G/A 0,00000 519 225 294 448 71 23 48 0,86 0,14   ARID1A   NM_006015.4 exonic missense AGT 9 p.Gly951Ser c.2851G>A 0.17 0.379 56       1.63
250 CH122 hmGBC Gallbladder 11 46671843 SNV G 1 G/A 0,00004 1155 471 684 1060 95 41 54 0,92 0,08   ATG13   NM_001205119.1 exonic missense GAG 6 p.Gly145Glu c.434G>A   0.996 98       2.67
251 CH122 hmGBC Gallbladder 11 46678702 SNV C 1 C/T 0,00000 922 561 361 826 96 59 37 0,90 0,10   ATG13   NM_001205119.1 exonic missense TTT 8 p.Ser186Phe c.557C>T   0.957 155       2.86
252 CH122 hmGBC Gallbladder 16 396809 SNV C 1 C/T 0,00000 473 306 167 415 58 38 20 0,88 0,12   AXIN1   NM_003502.3 exonic missense AAG 2 p.Glu73Lys c.217G>A   1 56     93924 2.52
253 CH122 hmGBC Gallbladder 3 52441271 SNV C 1 C/T 0,00008 343 178 165 307 36 18 18 0,90 0,10   BAP1   NM_004656.3 exonic missense ACG 7 p.Ala167Thr c.499G>A   0.844 58       2.83
254 CH122 hmGBC Gallbladder 17 41197736 SNV C 1 C/T 0,00000 1999 940 1059 1814 185 90 95 0,91 0,09   BRCA1 rs80359883 NM_007300.3 exonic missense AAC 24 p.Asp1872Asn c.5614G>A   0.973 23       1.48
255 CH122 hmGBC Gallbladder 17 41245735 SNV C 1 C/T 0,00010 333 169 164 298 35 16 19 0,89 0,11   BRCA1 rs80357927 NM_007300.3 exonic missense ACA 10 p.Ala605Thr c.1813G>A 0.02 0.251 58       0.65
256 CH122 hmGBC Gallbladder 17 41256182 SNV C 1 C/T 0,00000 869 517 352 709 160 95 65 0,82 0,18   BRCA1 rs80357568:rs80357357 NM_007300.3 exonic missense CAT 6 p.Arg133His c.398G>A   1 29   non-pathogenic   2.77
257 CH122 hmGBC Gallbladder 13 32953563 SNV C 1 C/T 0,00000 1999 847 1152 1830 169 65 104 0,92 0,08   BRCA2   NM_000059.3 exonic missense GTT 22 p.Ala2955Val c.8864C>T   0.875 64       1.5
258 CH122 hmGBC Gallbladder 13 32937320 SNV G 1 G/A 0,00000 1145 684 461 1043 102 54 48 0,91 0,09   BRCA2   NM_000059.3 exonic missense AAT 18 p.Asp2661Asn c.7981G>A   1 23       2.45
259 CH122 hmGBC Gallbladder 13 32906472 SNV C 1 C/T 0,00003 784 489 295 714 70 40 30 0,91 0,09   BRCA2   NM_000059.3 exonic missense TTA 10 p.Ser286Leu c.857C>T 0.02 0.011 145       0.66
260 CH122 hmGBC Gallbladder 13 32906433 SNV C 1 C/T 0,00002 782 502 280 712 70 40 30 0,91 0,09   BRCA2 rs80359068 NM_000059.3 exonic missense TTA 10 p.Ser273Leu c.818C>T   0.521 145       1.33
261 CH122 hmGBC Gallbladder 13 32912189 SNV G 1 G/A 0,00000 1174 510 664 1064 110 55 55 0,91 0,09   BRCA2 rs80358613 NM_000059.3 exonic missense ACT 11 p.Ala1233Thr c.3697G>A 0.01 1 58   untested   0.35
262 CH122 hmGBC Gallbladder 13 32910809 SNV C 1 C/T 0,00000 752 405 347 677 75 32 43 0,90 0,10   BRCA2   NM_000059.3 exonic missense TCT 11 p.Pro773Ser c.2317C>T 0.09 0.669 74     255226:255227 0.22
263 CH122 hmGBC Gallbladder 13 32913428 SNV G 1 G/A 0,00000 700 382 318 617 83 52 31 0,88 0,12   BRCA2 rs80359473 NM_000059.3 exonic missense AAA 11 p.Glu1646Lys c.4936G>A 0.22 0.295 56     1513781:1513782 0.41
264 CH122 hmGBC Gallbladder 13 32906441 SNV G 1 G/A 0,00000 782 498 284 675 107 65 42 0,86 0,14   BRCA2   NM_000059.3 exonic missense ATA 10 p.Val276Ile c.826G>A 0.56 0.091 29       0.76
265 CH122 hmGBC Gallbladder 13 32906553 SNV C 1 C/T 0,00000 299 157 142 256 43 21 22 0,86 0,14   BRCA2   NM_000059.3 exonic missense TTT 10 p.Ser313Phe c.938C>T 0.02 0.023 155     469354:469353 0.27
266 CH122 hmGBC Gallbladder 13 32914046 SNV G 1 G/A 0,00000 1404 671 733 1197 207 102 105 0,85 0,15   BRCA2 rs80358777 NM_000059.3 exonic missense ATT 11 p.Val1852Ile c.5554G>A 0.43 0.066 29   unknown 23950 0.67
267 CH122 hmGBC Gallbladder 1 167410001 SNV G 1 G/A 0,00000 1559 797 762 1425 134 66 68 0,91 0,09   CD247   NM_198053.2 exonic missense GTA 2 p.Ala21Val c.62C>T   1 64       2.27
268 CH122 hmGBC Gallbladder 1 167403270 SNV C 1 C/T 0,00003 205 100 105 179 26 13 13 0,87 0,13   CD247   NM_198053.2 exonic missense GAG 6 p.Gly127Glu c.380G>A 0.01 0.988 98       1.39
269 CH122 hmGBC Gallbladder 9 5462858 SNV G 1 G/A 0,00000 1340 591 749 1209 131 58 73 0,90 0,10   CD274   NM_014143.3 exonic missense AAA 4 p.Arg140Lys c.419G>A 0.06 0.58 26       0.31
270 CH122 hmGBC Gallbladder 9 5463082 SNV G 1 G/A 0,00000 1507 810 697 1318 189 95 94 0,87 0,13   CD274   NM_014143.3 exonic missense AAT 4 p.Asp215Asn c.643G>A 0.78 0.002 23       0.1
271 CH122 hmGBC Gallbladder 9 5462945 SNV G 1 G/A 0,00005 1030 506 524 944 86 42 44 0,92 0,08   CD274   NM_014143.3 exonic missense AAC 4 p.Ser169Asn c.506G>A 1 0.001 46       -0.17
272 CH122 hmGBC Gallbladder 9 5462984 SNV C 1 C/T 0,00000 980 451 529 823 157 74 83 0,84 0,16   CD274   NM_014143.3 exonic missense ATC 4 p.Thr182Ile c.545C>T   0.642 89       2.51
273 CH122 hmGBC Gallbladder 2 87042767 SNV G 1 G/A 0,00000 443 284 159 382 61 39 22 0,86 0,14   CD8B   NM_172213.3 exonic missense TTA 6 p.Ser232Leu c.695C>T   0.001 145       0.02
274 CH122 hmGBC Gallbladder 20 40050032 SNV C 1 C/T 0,00010 758 430 328 692 66 38 28 0,91 0,09   CHD6   NM_032221.4 exonic missense GAT 31 p.Gly1748Asp c.5243G>A 0.13 0.047 94       -0.15
275 CH122 hmGBC Gallbladder 15 91181980 SNV C 1 C/T 0,00000 390 202 188 343 47 22 25 0,88 0,12   CRTC3   NM_022769.4 exonic missense ATC 13 p.Thr494Ile c.1481C>T 0.02 0.952 89       1.53
276 CH122 hmGBC Gallbladder 1 44163527 SNV C 1 C/T 0,00010 1288 617 671 1186 102 41 61 0,92 0,08   KDM4A   NM_014663.2 exonic missense GTC 19 p.Ala895Val c.2684C>T 0.11 0.022 64       1.58
277 CH122 hmGBC Gallbladder 1 44163545 SNV C 1 C/T 0,00000 1409 611 798 1282 127 67 60 0,91 0,09   KDM4A   NM_014663.2 exonic missense GTA 19 p.Ala901Val c.2702C>T 1 0.001 64       1.58
278 CH122 hmGBC Gallbladder 4 55968643 SNV C 1 C/T 0,00000 393 211 182 344 49 25 24 0,88 0,12   KDR   NM_002253.2 exonic missense AAG 14 p.Glu674Lys c.2020G>A 0.02 0.478 56       1.56
279 CH122 hmGBC Gallbladder 4 55968579 SNV G 1 G/A 0,00000 384 232 152 329 55 32 23 0,86 0,14   KDR   NM_002253.2 exonic missense CTT 14 p.Pro695Leu c.2084C>T 0.76 0.001 98       0.43
280 CH122 hmGBC Gallbladder 4 55561720 SNV C 1 C/T 0,00000 1214 474 740 1063 151 53 98 0,88 0,12   KIT   NM_000222.2 exonic missense CTA 2 p.Pro37Leu c.110C>T   1 98       2.79
281 CH122 hmGBC Gallbladder 7 151849868 SNV C 1 C/T 0,00000 1287 596 691 1137 150 74 76 0,88 0,12   KMT2C   NM_170606.2 exonic missense AGA 49 p.Gly4150Arg c.12448G>A   0.966 125       1.37
282 CH122 hmGBC Gallbladder 7 151873726 SNV G 1 G/A 0,00000 923 399 524 833 90 32 58 0,90 0,10   KMT2C   NM_170606.2 exonic missense TCA 38 p.Pro2938Ser c.8812C>T 0.13 0.016 74       1.18
283 CH122 hmGBC Gallbladder 7 151849811 SNV G 1 G/A 0,00000 1213 673 540 1067 146 84 62 0,88 0,12   KMT2C   NM_170606.2 exonic missense TCA 49 p.Pro4169Ser c.12505C>T 0.01 0.024 74       0.75
284 CH122 hmGBC Gallbladder 12 49422939 SNV G 1 G/A 0,00000 1617 791 826 1473 144 76 68 0,91 0,09   KMT2D   NM_003482.3 exonic missense GTC 44 p.Ala4719Val c.14156C>T 1 0.067 64       2.45
285 CH122 hmGBC Gallbladder 12 49445746 SNV G 1 G/A 0,00000 255 145 110 202 53 30 23 0,79 0,21   KMT2D   NM_003482.3 exonic missense TCA 10 p.Pro574Ser c.1720C>T   0.001 74       2.44
286 CH122 hmGBC Gallbladder 12 49445719 SNV G 1 G/A 0,00000 252 153 99 203 49 31 18 0,81 0,19   KMT2D   NM_003482.3 exonic missense TCT 10 p.Pro583Ser c.1747C>T   0.633 74       2.44
287 CH122 hmGBC Gallbladder 12 49445703 SNV G 1 G/A 0,00000 242 155 87 194 48 28 20 0,80 0,20   KMT2D   NM_003482.3 exonic missense TTA 10 p.Ser588Leu c.1763C>T     145       2.44
288 CH122 hmGBC Gallbladder 20 42169583 SNV G 1 G/A 0,00000 1677 875 802 1510 167 79 88 0,90 0,10   L3MBTL1   NM_032107.4 exonic missense ATC 22 p.Val780Ile c.2338G>A 0.02 0.001 29       0.42
289 CH122 hmGBC Gallbladder 11 33881045 SNV C 1 C/T 0,00000 1134 417 717 975 159 70 89 0,86 0,14   LMO2   NM_005574.3 exonic missense AAC 6 p.Asp181Asn c.541G>A 0.07 0.075 23       1.32
290 CH122 hmGBC Gallbladder 11 33880984 SNV C 1 C/T 0,00000 1275 607 668 1108 167 86 81 0,87 0,13   LMO2   NM_005574.3 exonic missense GAT 6 p.Gly201Asp c.602G>A   1 94     368512 2.58
291 CH122 hmGBC Gallbladder 19 4090684 SNV G 1 G/A 0,00000 570 321 249 496 74 39 35 0,87 0,13   MAP2K2   NM_030662.3 exonic missense TTC 11 p.Ser372Phe c.1115C>T 0.01 0.783 155       1.95
292 CH122 hmGBC Gallbladder 19 4090670 SNV C 1 C/A 0,00000 557 323 234 484 73 40 33 0,87 0,13   MAP2K2   NM_030662.3 exonic missense TTG 11 p.Val377Leu c.1129G>T 0.02 0.014 32       1.95
293 CH122 hmGBC Gallbladder 3 37067281 SNV C 1 C/T 0,00003 2000 1137 863 1848 152 79 73 0,92 0,08   MLH1 rs63750483 NM_000249.3 exonic nonsense TAG 12 p.Gln398Ter c.1192C>T         untested   2.68
294 CH122 hmGBC Gallbladder 3 37070295 SNV C 1 C/T 0,00001 386 230 156 344 42 27 15 0,89 0,11   MLH1   NM_000249.3 exonic missense TTT 13 p.Ser477Phe c.1430C>T   0.011 155       1.53
295 CH122 hmGBC Gallbladder 5 79968157 SNV G 1 G/A 0,00006 704 384 320 641 63 36 27 0,91 0,09   MSH3   NM_002439.4 exonic missense CAC 5 p.Arg296His c.887G>A   1 29       2.7
296 CH122 hmGBC Gallbladder 19 15303304 SNV C 1 C/T 0,00000 796 347 449 721 75 27 48 0,91 0,09   NOTCH3 rs145069047 NM_000435.2 exonic missense CAG 3 p.Arg75Gln c.224G>A 0.27 0.964 43 AMAF=5.0E-4:EMAF=0.0:GMAF=2.0E-4     2.4
297 CH122 hmGBC Gallbladder 19 15276890 SNV G 1 G/A 0,00000 1123 434 689 1007 116 42 74 0,90 0,10   NOTCH3   NM_000435.2 exonic missense CTG 30 p.Pro1792Leu c.5375C>T   1 98       2.69
298 CH122 hmGBC Gallbladder 19 15303286 SNV G 1 G/A 0,00000 776 348 428 696 80 38 42 0,90 0,10   NOTCH3   NM_000435.2 exonic missense CTC 3 p.Pro81Leu c.242C>T   0.885 98       2.4
299 CH122 hmGBC Gallbladder 2 242794896 SNV C 1 C/T 0,00000 2000 746 1254 1811 189 70 119 0,91 0,09   PDCD1   NM_005018.2 exonic missense AAC 2 p.Asp105Asn c.313G>A 0.06 0.8 23       -0.72
300 CH122 hmGBC Gallbladder 2 242793251 SNV G 1 G/A 0,00000 339 169 160 286 43 23 20 0,84 0,13   PDCD1   NM_005018.2 exonic missense TCA 5 p.Pro276Ser c.826C>T   1 74       2.07
301 CH122 hmGBC Gallbladder 4 41750565 SNV C 1 C/T 0,00000 474 192 282 336 138 66 72 0,71 0,29   PHOX2B   NM_003924.3 exonic missense ATA 1 p.Met21Ile c.63G>A   0.015 10       2.68
302 CH122 hmGBC Gallbladder 3 178921495 SNV C 1 C/T 0,00000 184 90 94 119 65 34 31 0,65 0,35   PIK3CA   NM_006218.2 exonic missense TTC 5 p.Ser326Phe c.977C>T   0.668 155     1666844:1666843 2.69
303 CH122 hmGBC Gallbladder 2 109381709 SNV C 1 C/T 0,00000 921 380 541 810 111 51 60 0,88 0,12   RANBP2   NM_006267.4 exonic missense TCA 20 p.Pro1572Ser c.4714C>T 0.08 0.003 74       0.47
304 CH122 hmGBC Gallbladder 16 30750357 SNV C 1 C/T 0,00000 1828 1019 809 1628 200 122 78 0,89 0,11   SRCAP   NM_006662.2 exonic missense TTA 34 p.Ser2999Leu c.8996C>T   0.844 145       2.78
305 CH122 hmGBC Gallbladder 6 152638019 SNV C 1 C/T 0,00000 965 540 425 874 91 59 32 0,91 0,09   SYNE1   NM_182961.3 exonic missense ACA 87 p.Ala5559Thr c.16675G>A 0.04 0.717 58       1.39
306 CH122 hmGBC Gallbladder 6 152651152 SNV G 1 G/A 0,00000 681 317 364 581 100 47 53 0,85 0,15   SYNE1   NM_182961.3 exonic nonsense TAG 78 p.Gln4890Ter c.14668C>T             2.74
307 CH122 hmGBC Gallbladder 6 152651053 SNV C 1 C/T 0,00000 972 663 309 830 142 88 54 0,85 0,15   SYNE1   NM_182961.3 exonic missense AAA 78 p.Glu4923Lys c.14767G>A   1 56       1.54
308 CH122 hmGBC Gallbladder 6 152737735 SNV G 1 G/A 0,00000 733 435 298 660 73 42 31 0,90 0,10   SYNE1   NM_182961.3 exonic missense ATT 41 p.Thr1946Ile c.5837C>T   0.583 89       1.62
309 CH122 hmGBC Gallbladder 4 106193749 SNV G 1 G/A 0,00000 1301 772 529 1146 155 102 53 0,88 0,12   TET2   NM_001127208.2 exonic missense CAA 10 p.Arg1404Gln c.4211G>A   1 43       2.83
310 CH122 hmGBC Gallbladder 4 106156087 SNV G 1 G/A 0,00000 979 656 323 869 110 70 40 0,89 0,11   TET2   NM_001127208.2 exonic missense AAG 3 p.Glu330Lys c.988G>A 0.03 0.319 56       2.33
311 CH122 hmGBC Gallbladder 17 7579340 SNV G 1 G/A 0,00000 589 162 427 529 60 17 43 0,90 0,10   TP53   NM_000546.5 exonic missense TTT 4 p.Ser116Phe c.347C>T   1 155     44044:43715 2.63
312 CH129 hmGBC Gallbladder 12 46230562 SNV C 1 C/T 0,00000 1198 667 531 1079 119 61 58 0,90 0,10   ARID2   NM_152641.2 exonic missense TAT 8 p.His271Tyr c.811C>T   0.997 83       2.77
313 CH129 hmGBC Gallbladder 17 41245369 SNV G 1 G/A 0,00000 1124 501 623 1017 107 42 65 0,90 0,10   BRCA1   NM_007300.3 exonic missense TCA 10 p.Pro727Ser c.2179C>T 0.37   74       0.13
314 CH129 hmGBC Gallbladder 17 41243464 SNV C 1 C/T 0,00000 607 363 244 505 102 62 40 0,83 0,17   BRCA1   NM_007300.3 exonic missense AAT 10 p.Asp1362Asn c.4084G>A 0.01 0.228 23       0.35
315 CH129 hmGBC Gallbladder 17 41228512 SNV C 1 C/T 0,00000 428 187 241 334 94 42 52 0,78 0,22   BRCA1   NM_007300.3 exonic missense ATG 14 p.Val1514Met c.4540G>A 0.55 0.02 21       -1.07
316 CH129 hmGBC Gallbladder 17 41243533 SNV C 1 C/T 0,00000 376 120 256 276 100 25 75 0,73 0,27   BRCA1 rs80357021 NM_007300.3 exonic missense AAA 10 p.Glu1339Lys c.4015G>A 0.17 0.001 56       1.48
317 CH129 hmGBC Gallbladder 13 32937507 SNV A 1 A/G 0,00000 651 342 309 544 107 50 57 0,84 0,16   BRCA2 rs180670522:rs41293513 NM_000059.3 exonic missense GGT 18 p.Asp2723Gly c.8168A>G   1 94   pathogenic   2.08
318 CH129 hmGBC Gallbladder 13 32953545 SNV G 1 G/A 0,00000 1245 525 720 943 302 133 169 0,76 0,24   BRCA2   NM_000059.3 exonic missense AAG 22 p.Arg2949Lys c.8846G>A 0.35 0.016 26       -0.07
319 CH129 hmGBC Gallbladder 13 32914520 SNV G 1 G/A 0,00000 387 173 214 293 94 34 60 0,76 0,24   BRCA2   NM_000059.3 exonic missense ATC 11 p.Val2010Ile c.6028G>A 0.09 0.035 29       0.01
320 CH129 hmGBC Gallbladder 13 32937416 SNV A 1 A/G 0,00000 133 75 58 32 101 55 46 0,24 0,76   BRCA2   NM_000059.3 exonic missense GTA 18 p.Ile2693Val c.8077A>G 0.1 0.071 29       0.36
321 CH129 hmGBC Gallbladder 1 167409935 SNV C 1 T/T 0,00000 136 71 65 4 132 69 63 0,03 0,97   CD247   NM_198053.2 exonic missense GAT 2 p.Gly43Asp c.128G>A   0.999 94       2.27
322 CH129 hmGBC Gallbladder 2 87013084 SNV T 1 T/C 0,00000 499 304 195 387 112 68 44 0,78 0,22   CD8A   NM_171827.3 exonic missense GAA 5 p.Lys186Glu c.556A>G 0.01 0.187 56       0.33
323 CH129 hmGBC Gallbladder 2 87042815 SNV G 1 G/A 0,00000 267 152 115 118 149 84 65 0,44 0,56   CD8B   NM_172213.3 exonic missense ATC 6 p.Thr216Ile c.647C>T 1   89       0.11
324 CH129 hmGBC Gallbladder 22 29121054 SNV G 1 G/A 0,00000 1487 660 827 1248 239 112 127 0,84 0,16   CHEK2   NM_001005735.1 exonic missense ATC 5 p.Thr211Ile c.632C>T   1 89       1.5
325 CH129 hmGBC Gallbladder 2 204736146 SNV C 1 C/T 0,00000 592 212 380 480 112 24 88 0,81 0,19   CTLA4   NM_005214.4 exonic missense GTA 3 p.Ala168Val c.503C>T 1 0.035 64     572894 1.27
326 CH129 hmGBC Gallbladder 2 204736106 SNV G 1 G/A 0,00000 549 238 311 337 212 88 124 0,61 0,39   CTLA4   NM_005214.4 exonic missense AAA 3 p.Glu155Lys c.463G>A 0.03 0.912 56       2.56
327 CH129 hmGBC Gallbladder 2 204736158 SNV C 1 C/T 0,00000 592 213 379 473 119 32 87 0,80 0,20   CTLA4   NM_005214.4 exonic missense TTG 3 p.Ser172Leu c.515C>T 0.12 0.171 145     1404691 1.27
328 CH129 hmGBC Gallbladder 2 25467481 SNV C 1 C/T 0,00000 291 165 126 250 41 23 18 0,86 0,14   DNMT3A   NM_022552.4 exonic missense GAC 14 p.Gly532Asp c.1595G>A   0.999 94     1583078 2.66
329 CH129 hmGBC Gallbladder 17 37880237 SNV C 1 C/T 0,00000 448 229 219 289 159 79 80 0,65 0,35   ERBB2   NM_004448.3 exonic missense TCC 19 p.Pro761Ser c.2281C>T 0.06 0.995 74       2.33
330 CH129 hmGBC Gallbladder 12 56482435 SNV C 1 T/T 0,00000 198 95 103 8 190 90 100 0,04 0,96   ERBB3   NM_001982.3 exonic missense CTC 8 p.Pro328Leu c.983C>T   1 98       2.82
331 CH129 hmGBC Gallbladder 7 151873671 SNV G 1 G/A 0,00000 223 135 88 115 108 61 47 0,52 0,48   KMT2C   NM_170606.2 exonic missense CTT 38 p.Pro2956Leu c.8867C>T   0.112 98       2.44
332 CH129 hmGBC Gallbladder 12 49445723 SNV C 1 T/T 0,00000 103 66 37 1 102 65 37 0,01 0,99   KMT2D   NM_003482.3 exonic missense ATA 10 p.Met581Ile c.1743G>A   0.002 10       2.44
333 CH129 hmGBC Gallbladder 5 79968121 SNV G 1 G/A 0,00000 330 182 148 179 151 81 70 0,54 0,46   MSH3   NM_002439.4 exonic missense AAT 5 p.Ser284Asn c.851G>A   1 46       2.7
334 CH129 hmGBC Gallbladder 16 23641355 SNV G 1 G/A 0,00000 209 83 126 127 82 27 55 0,61 0,39   PALB2   NM_024675.3 exonic missense CTT 5 p.Pro707Leu c.2120C>T   1 98       2.83
335 CH129 hmGBC Gallbladder 16 23641289 SNV G 1 G/A 0,00000 333 132 201 219 114 52 62 0,66 0,34   PALB2   NM_024675.3 exonic missense CTC 5 p.Pro729Leu c.2186C>T   1 98       2.83
336 CH129 hmGBC Gallbladder 2 242793338 SNV C 1 C/T 0,00000 1883 1186 697 1663 220 143 77 0,88 0,12   PDCD1   NM_005018.2 exonic missense AAG 5 p.Glu247Lys c.739G>A   0.999 56       2.07
337 CH129 hmGBC Gallbladder 1 198671588 SNV G 1 G/A 0,00000 534 412 122 450 84 56 28 0,84 0,16   PTPRC   NM_002838.4 exonic missense AAC 6 p.Ser171Asn c.512G>A 1 0.003 46       -0.77
338 CH129 hmGBC Gallbladder 1 35650095 SNV C 1 C/T 0,00000 505 305 200 245 260 154 106 0,49 0,51   SFPQ   NM_005066.2 exonic missense AAA 10 p.Glu696Lys c.2086G>A   0.997 56       2.88
339 CH129 hmGBC Gallbladder 1 35650112 SNV C 1 C/T 0,00000 520 307 213 273 247 149 98 0,53 0,48   SFPQ   NM_005066.2 exonic missense GAA 10 p.Gly690Glu c.2069G>A   0.995 98       2.88
340 CH129 hmGBC Gallbladder 16 30749567 SNV G 1 G/A 0,00000 149 84 65 93 56 33 23 0,62 0,38   SRCAP   NM_006662.2 exonic missense AGT 34 p.Gly2736Ser c.8206G>A 0.01 0.59 56       2.63
341 CH129 hmGBC Gallbladder 16 30750390 SNV C 1 C/T 0,00000 779 417 362 511 268 147 121 0,66 0,34   SRCAP   NM_006662.2 exonic missense CTT 34 p.Pro3010Leu c.9029C>T   0.799 98       2.78
342 CH129 hmGBC Gallbladder 6 152751708 SNV C 1 C/T 0,00000 985 644 341 806 179 93 86 0,82 0,18   SYNE1   NM_182961.3 exonic missense GAG 35 p.Gly1533Glu c.4598G>A 0.06 0.03 98       2.83
343 CH129 hmGBC Gallbladder 18 22804370 SNV G 1 G/A 0,00000 1218 609 609 1093 125 60 65 0,90 0,10   ZNF521   NM_015461.2 exonic missense ATA 4 p.Thr1171Ile c.3512C>T 0.05 0.073 89       2.84
344 CH001 non-hm Extrahepatic 7 140453155 SNV C 1 C/T 0,00000 1986 1084 902 1625 361 187 174 0,82 0,18   BRAF   NM_004333.4 exonic missense AAT 15 p.Asp594Asn c.1780G>A   1 23     144576:27639:211600 2.69
345 CH014 non-hm Extrahepatic 13 32937507 SNV A 1 A/G 0,00000 1999 1099 900 1716 283 148 135 0,86 0,14   BRCA2 rs180670522:rs41293513 NM_000059.3 exonic missense GGT 18 p.Asp2723Gly c.8168A>G   1 94   pathogenic   2.08
346 CH040 non-hm Extrahepatic 3 52440899 SNV C 1 C/T 0,00000 313 156 157 252 61 30 31 0,81 0,19   BAP1   NM_004656.3 exonic nonsense TAG 8 p.Trp202Ter c.605G>A             2.88
347 CH040 non-hm Extrahepatic 9 5466794 SNV G 1 G/A 0,00000 1224 705 494 1096 103 25 78 0,90 0,08   CD274   NM_014143.3 exonic missense TAT 6 p.Cys272Tyr c.815G>A   0.162 194       2.61
348 CH040 non-hm Extrahepatic 2 87017699 SNV G 1 G/A 0,00000 254 126 128 234 20 10 10 0,92 0,08   CD8A rs200195023 NM_171827.3 exonic missense TTG 2 p.Ser52Leu c.155C>T 0.01 0.99 145       -0.15
349 CH040 non-hm Extrahepatic 7 151945301 SNV C 1 C/T 0,00000 444 249 195 393 51 33 18 0,89 0,11   KMT2C   NM_170606.2 exonic missense AAA 14 p.Glu740Lys c.2218G>A 0.01 0.006 56       2.6
350 CH040 non-hm Extrahepatic 12 49445611 SNV G 1 G/A 0,00000 767 575 169 709 35 15 20 0,92 0,08   KMT2D   NM_003482.3 exonic missense TCA 10 p.Pro619Ser c.1855C>T   0.997 74       2.51
351 CH040 non-hm Extrahepatic 9 139397721 SNV G 1 G/A 0,00000 540 275 265 459 81 39 42 0,85 0,15   NOTCH1   NM_017617.3 exonic nonsense TAG 27 p.Gln1694Ter c.5080C>T             2.46
352 CH040 non-hm Extrahepatic 4 25676025 SNV C 1 C/T 0,00001 291 162 129 257 34 20 14 0,88 0,12   SLC34A2   NM_006424.2 exonic missense TCC 11 p.Pro442Ser c.1324C>T   0.998 74       2.6
353 CH040 non-hm Extrahepatic 17 5045313 SNV G 1 G/A 0,00000 440 231 209 385 55 33 22 0,88 0,13   USP6   NM_004505.2 exonic missense GAA 16 p.Gly530Glu c.1589G>A   0.998 98       1.32
354 CH045 non-hm Extrahepatic 13 32913573 SNV G 1 G/C 0,00000 533 299 234 323 210 123 87 0,61 0,39   BRCA2   NM_000059.3 exonic missense ACA 11 p.Arg1694Thr c.5081G>C 0.01 0.08 71       0.8
355 CH054 non-hm Extrahepatic 13 32907495 SNV C 1 C/T 0,00000 1276 621 655 907 369 176 193 0,71 0,29   BRCA2   NM_000059.3 exonic missense GTA 10 p.Ala627Val c.1880C>T 0.22 0.008 64       -0.79
356 CH105 non-hm Extrahepatic 3 37070411 SNV C 1 C/T 0,00000 1997 895 1102 1036 961 431 530 0,52 0,48   MLH1   NM_000249.3 exonic nonsense TAG 13 p.Gln516Ter c.1546C>T             1.38
357 CH147 non-hm Extrahepatic 4 55593622 SNV T 1 T/A 0,00000 322 115 207 246 76 25 51 0,76 0,24   KIT   NM_000222.2 exonic missense AAA 11 p.Ile563Lys c.1688T>A   0.001 102     24839 2.32
358 CH005 non-hm Gallbladder 17 7577105 SNV G 1 G/A 0,00000 1999 1159 840 1564 435 265 170 0,78 0,22   TP53   NM_000546.5 exonic missense CTT 8 p.Pro278Leu c.833C>T   1 98     1649338:43762:43587:129831:300205:984880:43755:10887:333585:984879:1646811:10863:1646812 1.39
359 CH010 non-hm Gallbladder 3 178936091 SNV G 1 G/A 0,00000 1931 949 982 848 1083 529 554 0,44 0,56   PIK3CA rs104886003 NM_006218.2 exonic missense AAG 10 p.Glu545Lys c.1633G>A   0.991 56   other:pathogenic 763:27133:295672:125370 2.72
360 CH010 non-hm Gallbladder 18 22804518 SNV C 1 C/T 0,00000 1996 953 1043 1792 204 114 90 0,90 0,10   ZNF521   NM_015461.2 exonic missense AAG 4 p.Glu1122Lys c.3364G>A 0.08 0.155 56       2.84
361 CH019 non-hm Gallbladder 4 55593622 SNV T 1 T/A 0,00000 563 217 346 247 316 120 196 0,44 0,56   KIT   NM_000222.2 exonic missense AAA 11 p.Ile563Lys c.1688T>A   0.001 102     24839 2.32
362 CH019 non-hm Gallbladder 12 25380275 SNV T 1 T/G 0,00000 1988 1221 767 1416 572 355 217 0,71 0,29   KRAS rs17851045 NM_033360.3 exonic missense CAC 3 p.Gln61His c.183A>C 0.01 0.09 24   untested 554:1146992:555:1135364:1168052 2.33
363 CH025 non-hm Gallbladder 1 27101387 SNV C 1 C/G 0,00001 376 193 183 335 41 13 28 0,89 0,11   ARID1A   NM_006015.4 exonic missense GCC 18 p.Pro1557Ala c.4669C>G 0.03 0.996 27       1.44
364 CH025 non-hm Gallbladder 11 46671858 SNV T 1 T/C 0,00000 440 219 221 392 48 19 29 0,89 0,11   ATG13   NM_001205119.1 exonic missense ACA 6 p.Ile150Thr c.449T>C   0.999 89       2.15
365 CH025 non-hm Gallbladder 17 41209134 SNV C 1 C/T 0,00001 425 216 209 379 46 23 23 0,89 0,11   BRCA1 rs80356937 NM_007300.3 exonic missense AGA 20 p.Gly1759Arg c.5275G>A   0.078 125   untested   2.65
366 CH025 non-hm Gallbladder 2 87085509 SNV G 1 G/A 0,00000 500 196 304 425 75 20 55 0,85 0,15   CD8B   NM_172213.3 exonic missense ATC 2 p.Thr25Ile c.74C>T   0.763 89       -0.24
367 CH025 non-hm Gallbladder 22 29130466 SNV C 1 C/T 0,00000 1103 374 729 1007 96 36 60 0,91 0,09   CHEK2   NM_001005735.1 exonic missense AAC 2 p.Asp82Asn c.244G>A 0.01 0.999 23       1.81
368 CH025 non-hm Gallbladder 5 158250229 SNV G 1 G/A 0,00000 284 164 120 242 42 25 17 0,85 0,15   EBF1   NM_024007.3 exonic missense TGG 8 p.Arg245Trp c.733C>T   1 101       1.27
369 CH025 non-hm Gallbladder 7 116435987 SNV C 1 C/T 0,00000 452 234 218 395 57 32 25 0,87 0,13   MET   NM_001127500.1 exonic missense TCA 21 p.Pro1346Ser c.4036C>T   1 74       2.87
370 CH025 non-hm Gallbladder 1 120512305 SNV C 1 C/T 0,00001 465 261 204 417 48 27 21 0,90 0,10   NOTCH2   NM_024408.3 exonic missense AGC 6 p.Gly313Ser c.937G>A   1 56     138229 2.71
371 CH025 non-hm Gallbladder 2 242800974 SNV G 1 G/A 0,00007 513 306 207 464 49 30 19 0,90 0,10   PDCD1   NM_005018.2 exonic missense GTG 1 p.Ala6Val c.17C>T 0.62 0.047 64     1614640 -1.87
372 CH025 non-hm Gallbladder 2 242794901 SNV C 1 C/T 0,00005 1073 523 550 984 89 44 45 0,92 0,08   PDCD1   NM_005018.2 exonic missense GAG 2 p.Gly103Glu c.308G>A 0.17 0.994 98       0.49
373 CH025 non-hm Gallbladder 16 30749558 SNV C 1 C/T 0,00000