view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A3GALT2_chr1_33301766_33326098 | 33307198 | G | T | stop_gained | HIGH | HG02145.hp1 HG02280.hp2 HG02970.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 a0002c0002t0001g0100 a0002c0002t0001g0102 |
4 | 416 | 0.0096 | 0 | c.591 others(3): Show |
p.Cys others(4): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 5/5 | 591/1023 | 591/1023 | 197/340 | chr1 | TogoVar | |||
ABHD14B_chr3_51963515_51979049 | 51971622 | G | A | stop_gained | HIGH | HG01243.hp2 HG02622.hp1 HG02717.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 a0002c0002t0003g0034 a0002c0002t0003g0043 |
10 | 322 | 0.0311 | 0 | c.49C others(2): Show |
p.Gln others(3): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 2/4 | 162/1657 | 49/633 | 17/210 | chr3 | TogoVar | |||
ADGRE1_chr19_6882579_6945450 | 6921702 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show |
a0004a0006a0007others(24): Show | a0004c0004a0006c0006a0007c0007others(24): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(40): Show | a0004c0004t0001g0003 a0004c0004t0001g0034 a0004c0004t0001g0050 others(86): Show |
91 | 336 | 0.2708 | 1 | c.162 others(7): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AGAP3_chr7_151081475_151149434 | 151086812 | G | GT | frameshift_variant | HIGH | HG01884.hp2 HG01891.hp1 HG02280.hp1 others(6): Show |
a0002 | a0002c0002a0002c0020 | a0002c0002t0002a0002c0020t0002 | a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 others(6): Show |
9 | 352 | 0.0256 | 1 | c.71_ others(6): Show |
p.Ala others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 339/3494 | 72/2736 | 24/911 | chr7 | TogoVar | |||
ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(173): Show |
372 | 388 | 0.9588 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show |
208 | 378 | 0.5503 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ANGPTL5_chr11_101885674_101921522 | 101891288 | A | C | stop_gained | HIGH | HG02451.hp2 HG02970.hp1 HG06807.hp1 |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0043 a0003c0003t0006g0184 |
3 | 420 | 0.0071 | 0 | c.115 others(4): Show |
p.Tyr others(4): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 9/9 | 1754/2368 | 1158/1167 | 386/388 | chr11 | TogoVar | |||
ANKRD30A_chr10_37120598_37237567 | 37177323 | GTCTTATT others(11794): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG02970.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0069 | 1 | 277 | 0.0036 | -11801 | c.242 others(14): Show |
p.Ser others(13): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/36 | 2422/4194 | 808/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||
APOL4_chr22_36184128_36206809 | 36201698 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0028a0002c0002t0002others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0055 others(27): Show |
58 | 432 | 0.1343 | 0 | c.35+ others(4): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
ARMS2_chr10_122449653_122462352 | 122454839 | C | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(58): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(2): Show | a0003c0003t0001g0003 a0003c0003t0001g0016 a0003c0003t0001g0018 others(4): Show |
61 | 422 | 0.1446 | 0 | c.112 others(3): Show |
p.Arg others(3): Show |
ARMS2 | ENSG00000254636.1 | transcript | ENST00000528446.1 | protein_coding | 1/2 | 187/818 | 112/324 | 38/107 | chr10 | TogoVar | |||
AS3MT_chr10_102864470_102906899 | 102869497 | TCCTGAGT others(29): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(158): Show |
173 | 352 | 0.4915 | -36 | c.-19 others(44): Show |
p.Met others(3): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 1/11 | 105/2450 | 1/1128 | 1/375 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show |
a0002 | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show |
151 | 438 | 0.3447 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 57/1907 | 2/1542 | 1/513 | chr2 | TogoVar | |||
BAIAP3_chr16_1328645_1354439 | 1346751 | C | CGGAGGCC others(94): Show |
frameshift_variant others(1): Show |
HIGH | HG01069.hp2 HG02970.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132 |
3 | 354 | 0.0085 | 101 | c.264 others(113): Show |
p.Ala others(5): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 28/34 | 2805/4531 | 2690/3459 | 897/1152 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
BIRC7_chr20_63230905_63245495 | 63237961 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG00741.hp2 HG01106.hp2 others(9): Show |
a0003 | a0003c0008a0003c0010a0003c0011others(1): Show | a0003c0008t0001a0003c0010t0001a0003c0011t0001others(1): Show | a0003c0008t0001g0003 a0003c0008t0001g0018 a0003c0010t0001g0001 others(3): Show |
12 | 298 | 0.0403 | 1 | c.412 others(4): Show |
p.Asp others(5): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 2/7 | 605/1334 | 413/897 | 138/298 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
BRIX1_chr5_34910711_34930996 | 34925207 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(21): Show |
80 | 428 | 0.1869 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BRIX1_chr5_34910711_34930996 | 34925223 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(14): Show |
50 | 436 | 0.1147 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BZW2_chr7_16641181_16711517 | 16682767 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01081.hp2 HG01109.hp1 HG01167.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 others(41): Show |
46 | 416 | 0.1106 | 1 | c.340 others(6): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23239817 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG02970.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0303 | 1 | 324 | 0.0031 | 0 | c.134 others(6): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 12/15 | chr10 | TogoVar | |||||||
C12orf54_chr12_48477498_48501524 | 48494980 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01099.hp1 HG01167.hp1 HG02258.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 others(11): Show |
37 | 434 | 0.0853 | 0 | c.*40 others(5): Show |
C12orf54 | ENSG00000177627.11 | transcript | ENST00000548364.7 | protein_coding | 8/8 | chr12 | TogoVar | |||||||
C12orf60_chr12_14798670_14829415 | 14823483 | CTA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0012 others(9): Show |
68 | 386 | 0.1762 | -2 | c.550 others(9): Show |
p.Met others(5): Show |
C12orf60 | ENSG00000182993.5 | transcript | ENST00000330828.3 | protein_coding | 2/2 | 656/1586 | 550/738 | 184/245 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(228): Show |
405 | 412 | 0.9830 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | |||||||
C17orf107_chr17_4894536_4907934 | 4900416 | G | A | stop_gained | HIGH | HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(4): Show | a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 others(4): Show |
94 | 440 | 0.2136 | 0 | c.456 others(3): Show |
p.Trp others(4): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 3/3 | 683/3201 | 456/573 | 152/190 | chr17 | TogoVar | |||
C1QTNF8_chr16_1083226_1101244 | 1093978 | G | GC | frameshift_variant | HIGH | HG01109.hp2 HG01243.hp2 HG02647.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0007 a0002c0002t0009g0110 |
9 | 394 | 0.0228 | 1 | c.281 others(4): Show |
p.Leu others(4): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/5 | 555/3406 | 281/759 | 94/252 | chr16 | TogoVar | |||
C20orf141_chr20_2809987_2820830 | 2815150 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp1 HG02258.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0002g0003 others(1): Show |
5 | 412 | 0.0121 | 0 | c.-33 others(5): Show |
C20orf141 | ENSG00000258713.3 | transcript | ENST00000603872.2 | protein_coding | 1/2 | chr20 | TogoVar | |||||||
C2orf92_chr2_97664713_97708066 | 97702739 | GA | G | frameshift_variant | HIGH | HG01243.hp1 HG01358.hp1 HG02451.hp1 others(12): Show |
a0004a0010 | a0004c0004a0010c0010 | a0004c0004t0001a0010c0010t0001 | a0004c0004t0001g0020 a0004c0004t0001g0079 a0004c0004t0001g0080 others(11): Show |
15 | 308 | 0.0487 | -1 | c.743 others(4): Show |
p.Asn others(5): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 8/8 | 819/1139 | 743/798 | 248/265 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(153): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show |
156 | 370 | 0.4216 | 1 | c.397 others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C6orf52_chr6_10666422_10699616 | 10694492 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00544.hp1 HG01243.hp2 HG02055.hp2 others(27): Show |
a0002a0003 | a0002c0002a0002c0003a0003c0004 | a0002c0002t0002a0002c0003t0002a0002c0003t0004others(1): Show | a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0003t0002g0008 others(20): Show |
30 | 282 | 0.1064 | 0 | c.-12 others(5): Show |
C6orf52 | ENSG00000137434.12 | transcript | ENST00000259983.8 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(9): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01071.hp2 HG01891.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0196 a0001c0001t0004g0161 a0001c0001t0006g0174 others(4): Show |
7 | 91 | 0.0769 | 16 | c.121 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 536144 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(29): Show | a0001c0001t0001g0018 a0001c0001t0001g0359 a0001c0001t0001g0361 others(41): Show |
46 | 408 | 0.1127 | 0 | c.-23 others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 552143 | T | TG | frameshift_variant | HIGH | HG00735.hp1 HG00738.hp2 HG01099.hp1 others(21): Show |
a0002a0005a0012others(2): Show | a0002c0012a0002c0014a0002c0015others(12): Show | a0002c0012t0001a0002c0012t0002a0002c0014t0001others(18): Show | a0002c0012t0001g0260 a0002c0012t0002g0061 a0002c0012t0002g0259 others(21): Show |
24 | 408 | 0.0588 | 1 | c.244 others(5): Show |
p.Val others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 10/14 | 2951/4888 | 2444/3261 | 815/1086 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
CASC3_chr17_40135537_40177171 | 40163475 | T | TTG | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG01081.hp1 HG01109.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0224 a0001c0001t0001g0225 others(18): Show |
22 | 264 | 0.0833 | 2 | c.786 others(13): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CATSPER2_chr15_43623503_43653844 | 43632936 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(111): Show |
176 | 390 | 0.4513 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | |||||||
CBY2_chr13_45697320_45719559 | 45713238 | C | A | stop_gained | HIGH | HG01070.hp1 HG01175.hp1 HG01243.hp2 others(19): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0004t0002a0003c0013t0001 | a0003c0004t0001g0005 a0003c0004t0001g0016 a0003c0004t0001g0034 others(6): Show |
22 | 437 | 0.0503 | 0 | c.213 others(3): Show |
p.Cys others(3): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 3/3 | 284/1605 | 213/1347 | 71/448 | chr13 | TogoVar | |||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(132): Show |
260 | 360 | 0.7222 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
CD36_chr7_80633642_80684274 | 80671133 | T | G | stop_gained | HIGH | HG01891.hp2 HG02818.hp2 HG02922.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0025 | a0002c0002t0002g0015 a0002c0002t0002g0205 a0002c0002t0007g0048 others(4): Show |
11 | 390 | 0.0282 | 0 | c.975 others(3): Show |
p.Tyr others(4): Show |
CD36 | ENSG00000135218.19 | transcript | ENST00000447544.7 | protein_coding | 10/15 | 1263/4598 | 975/1419 | 325/472 | chr7 | TogoVar | |||
CD40_chr20_46113314_46134858 | 46128304 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp1 HG01361.hp1 HG01361.hp2 others(39): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0070 others(34): Show |
42 | 263 | 0.1597 | 1 | c.647 others(6): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0002others(6): Show | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show |
211 | 404 | 0.5223 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | |||
CEL_chr9_133056981_133076861 | 133071403 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00544.hp2 HG00558.hp1 HG01109.hp2 others(12): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0005c0007t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(6): Show |
15 | 410 | 0.0366 | -32 | c.190 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071468 | G | GC | frameshift_variant | HIGH | HG01109.hp2 HG01169.hp2 HG01175.hp1 others(20): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show |
23 | 334 | 0.0689 | 1 | c.197 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
CES5A_chr16_55841154_55880373 | 55869642 | G | A | stop_gained | HIGH | HG01168.hp1 HG02109.hp1 HG02572.hp1 others(11): Show |
a0007a0011 | a0007c0020a0007c0021a0007c0068others(6): Show | a0007c0020t0001a0007c0020t0003a0007c0021t0001others(7): Show | a0007c0020t0001g0360 a0007c0020t0001g0361 a0007c0020t0003g0120 others(11): Show |
14 | 448 | 0.0313 | 0 | c.520 others(3): Show |
p.Gln others(4): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/13 | 672/2177 | 520/1728 | 174/575 | chr16 | TogoVar | |||
CGB1_chr19_49030569_49041895 | 49035611 | T | G | stop_lost | HIGH | HG01243.hp1 HG01433.hp1 HG01884.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0010a0001c0004t0004a0002c0003t0004others(3): Show | a0001c0001t0010g0035 a0001c0004t0004g0009 a0002c0003t0004g0015 others(3): Show |
18 | 374 | 0.0481 | 0 | c.467 others(3): Show |
p.Ter others(11): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 3/3 | 651/693 | 467/468 | 156/155 | chr19 | TogoVar | |||
CHIT1_chr1_203211079_203234673 | 203217736 | TACTC | T | frameshift_variant others(3): Show |
HIGH | HG01891.hp1 HG02258.hp2 HG02280.hp2 others(7): Show |
a0007 | a0007c0007a0007c0023 | a0007c0007t0002a0007c0023t0002 | a0007c0007t0002g0021 a0007c0007t0002g0023 a0007c0007t0002g0073 others(2): Show |
10 | 482 | 0.0207 | -4 | c.115 others(15): Show |
p.Leu others(5): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1155/1401 | 385/466 | chr1 | TogoVar | ||||
CLASRP_chr19_45034045_45075956 | 45064224 | C | CT | frameshift_variant others(1): Show |
HIGH | HG02886.hp2 HG02970.hp2 NA18963.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0023 a0003c0003t0001g0090 a0003c0003t0001g0108 others(3): Show |
6 | 362 | 0.0166 | 1 | c.111 others(10): Show |
p.Arg others(5): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 12/21 | 1212/2229 | 1119/2025 | 373/674 | chr19 | TogoVar | |||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(134): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(134): Show |
137 | 215 | 0.6372 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(100): Show |
a0001a0004a0006others(17): Show | a0001c0001a0001c0014a0001c0025others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 others(97): Show |
103 | 290 | 0.3552 | -1 | c.777 others(5): Show |
p.Leu others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8110/8969 | 7772/7845 | 2591/2614 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
COL9A2_chr1_40295489_40322286 | 40307478 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(38): Show |
a0001a0007a0008others(1): Show | a0001c0005a0001c0008a0001c0028others(3): Show | a0001c0005t0001a0001c0008t0001a0001c0028t0001others(3): Show | a0001c0005t0001g0005 a0001c0005t0001g0045 a0001c0005t0001g0046 others(19): Show |
41 | 436 | 0.0940 | 0 | c.976 others(3): Show |
p.Gln others(4): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 19/32 | 1065/2852 | 976/2070 | 326/689 | chr1 | TogoVar | |||
COX6B2_chr19_55344704_55359719 | 55353911 | G | T | stop_gained | HIGH | HG02258.hp1 HG02970.hp1 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 3 | 388 | 0.0077 | 0 | c.168 others(3): Show |
p.Cys others(3): Show |
COX6B2 | ENSG00000160471.13 | transcript | ENST00000326529.9 | protein_coding | 3/5 | 256/1566 | 168/267 | 56/88 | chr19 | TogoVar | |||
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(132): Show |
a0001a0004a0010others(4): Show | a0001c0002a0001c0011a0001c0014others(7): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(17): Show | a0001c0002t0003g0002 a0001c0002t0003g0004 a0001c0002t0003g0013 others(55): Show |
135 | 438 | 0.3082 | 0 | c.152 others(4): Show |
p.Gln others(4): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 2/2 | 1615/3025 | 1525/1638 | 509/545 | chr3 | TogoVar | |||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0016a0001c0029others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(268): Show |
275 | 343 | 0.8017 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CYP2A7_chr19_40870439_40887231 | 40875778 | G | T | stop_gained | HIGH | HG00738.hp1 HG01070.hp1 HG01071.hp2 others(19): Show |
a0006a0026a0027 | a0006c0010a0006c0016a0006c0021others(4): Show | a0006c0010t0001a0006c0016t0001a0006c0021t0007others(4): Show | a0006c0010t0001g0007 a0006c0016t0001g0015 a0006c0021t0007g0163 others(5): Show |
22 | 396 | 0.0556 | 0 | c.140 others(4): Show |
p.Ser others(4): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 9/9 | 1421/1760 | 1400/1485 | 467/494 | chr19 | TogoVar |