regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLG1_chr3_197037560_197303612 | 197069826 | TGATGGTG others(72): Show |
T | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0030 | 1 | 332 | 0.0030 | -79 | c.200 others(96): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 18/24 | chr3 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95692048 | AGAGAGGG others(72): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02622.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0012a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0012g0362a0001c0001t0012g0363a0001c0001t0012g0364others(8): Show | 11 | 374 | 0.0294 | -79 | c.82+ others(96): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154060728 | CCCCCCGC others(72): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG02280.hp1 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0018a0001c0027others(1): Show | a0001c0003t0007a0001c0018t0009a0001c0027t0027others(1): Show | a0001c0003t0007g0024a0001c0018t0009g0023a0001c0027t0027g0007others(1): Show | 4 | 38 | 0.1053 | -79 | c.243 others(96): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154060761 | TCTTCCCC others(72): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0015 | 1 | 38 | 0.0263 | -79 | c.243 others(96): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | chr7 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18708244 | AATATATA others(72): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0293 | 1 | 398 | 0.0025 | -79 | c.478 others(98): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DTNB_chr2_25372243_25678577 | 25560516 | AACTGAAA others(72): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 168 | 0.0060 | -79 | c.876 others(98): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 8/20 | chr2 | TogoVar | ||||||
EDC3_chr15_74625558_74701024 | 74692039 | TCGATCTC others(72): Show |
T | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 286 | 0.0035 | -79 | c.-19 others(96): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43562591 | TGGAGGGA others(72): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(76): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0013a0001c0035others(14): Show | a0001c0001t0001a0001c0013t0001a0001c0035t0001others(17): Show | a0001c0001t0001g0236a0001c0013t0001g0187a0001c0013t0001g0188others(76): Show | 79 | 290 | 0.2724 | -79 | c.342 others(98): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 26/31 | chr22 | TogoVar | ||||||
EHBP1L1_chr11_65571053_65597650 | 65596798 | AGCCCTAG others(72): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(65): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(5): Show | a0001c0002t0001g0005a0001c0002t0002g0065a0001c0003t0001g0005others(22): Show | 68 | 412 | 0.1651 | -79 | c.*44 others(90): Show |
EHBP1L1 | ENSG00000173442.13 | transcript | ENST00000309295.9 | protein_coding | 4149 | chr11 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3246985 | GGAGGGAG others(72): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00639.hp2 others(61): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0024others(61): Show | 64 | 250 | 0.2560 | -79 | c.416 others(98): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3246997 | CGAGGGAG others(72): Show |
C | intron_variant | MODIFIER | NA18969.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145a0001c0001t0002g0153 | 2 | 250 | 0.0080 | -79 | c.416 others(98): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53303799 | TTTAACCA others(72): Show |
T | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 320 | 0.0031 | -79 | c.-8- others(94): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667538 | TGGTGATG others(72): Show |
T | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01993.hp1 |
a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0011a0004c0008t0004g0398 | 2 | 418 | 0.0048 | -79 | c.*66 others(90): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2779 | chr18 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98073466 | ATATATAT others(72): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0022others(2): Show | 5 | 442 | 0.0113 | -79 | c.58+ others(94): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ESS2_chr22_19125279_19149651 | 19136239 | GTAGTCCC others(72): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(400): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0011others(161): Show | 403 | 432 | 0.9329 | -79 | c.103 others(98): Show |
ESS2 | ENSG00000100056.12 | transcript | ENST00000252137.11 | protein_coding | 8/9 | chr22 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108747177 | TATAATAT others(72): Show |
T | intron_variant | MODIFIER | HG03486.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | 378 | 0.0053 | -79 | c.108 others(96): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128585061 | AAAGAAAG others(72): Show |
A | intron_variant | MODIFIER | HG01261.hp2 NA18990.hp1 NA19012.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0017a0001c0002t0003 | a0001c0001t0005g0034a0001c0001t0017g0032a0001c0002t0003g0003 | 3 | 286 | 0.0105 | -79 | c.-15 others(96): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103093677 | CCCTAGGA others(72): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02056.hp2 others(2): Show |
a0002a0005a0011 | a0002c0011a0005c0008a0011c0016 | a0002c0011t0006a0005c0008t0004a0011c0016t0006 | a0002c0011t0006g0221a0005c0008t0004g0009a0011c0016t0006g0250 | 5 | 404 | 0.0124 | -79 | c.-11 others(90): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 1047 | chr14 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103093726 | GTGGGTGC others(72): Show |
G | upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 404 | 0.0025 | -79 | c.-11 others(90): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 998 | chr14 | TogoVar | ||||||
FAM227B_chr15_49321970_49625818 | 49372043 | TCAATGAA others(72): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01257.hp2 HG01258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0058a0001c0001t0001g0059others(1): Show | 4 | 294 | 0.0136 | -79 | c.101 others(96): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | ||||||
FAM3D_chr3_58628946_58671774 | 58652416 | ACCATCTA others(72): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0004 | a0001c0001t0001g0171a0006c0010t0004g0173 | 2 | 398 | 0.0050 | -79 | c.121 others(96): Show |
FAM3D | ENSG00000198643.7 | transcript | ENST00000358781.7 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9021305 | TTATATTA others(72): Show |
T | downstream_gene_variant | MODIFIER | HG02056.hp1 NA18947.hp1 NA18951.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0034others(2): Show | 8 | 258 | 0.0310 | -79 | c.*40 others(90): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2926 | chrX | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9022621 | TTATATTA others(72): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 258 | 0.0039 | -79 | c.*27 others(90): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1610 | chrX | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98379001 | ATACAATA others(72): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02145.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0055a0001c0001t0058others(7): Show | a0001c0001t0016g0153a0001c0001t0055g0069a0001c0001t0058g0070others(9): Show | 12 | 218 | 0.0551 | -79 | c.496 others(96): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FER1L5_chr2_96637764_96709883 | 96659290 | TTTCCTTC others(72): Show |
T | intron_variant | MODIFIER | HG02257.hp1 NA20129.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0204a0001c0003t0001g0207 | 2 | 226 | 0.0089 | -79 | c.748 others(95): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
FGFR4_chr5_177081915_177103144 | 177094414 | TGTGTCAG others(72): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0177 | 1 | 372 | 0.0027 | -79 | c.151 others(96): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 11/17 | chr5 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635486 | GTGGTGGG others(72): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp1 NA19077.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0003a0002c0002t0001a0002c0003t0005 | a0001c0001t0003g0338a0002c0002t0001g0011a0002c0003t0005g0103 | 3 | 388 | 0.0077 | -79 | c.59- others(94): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
FUCA1_chr1_23840077_23873290 | 23851562 | CCATCACT others(72): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 380 | 0.0026 | -79 | c.969 others(96): Show |
FUCA1 | ENSG00000179163.12 | transcript | ENST00000374479.4 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
FUT2_chr19_48690971_48710951 | 48705358 | CTCGGCCT others(72): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0002 | 1 | 394 | 0.0025 | -79 | c.*13 others(90): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | 1373 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
GABPB1_chr15_50270389_50360198 | 50340880 | AATATTAC others(72): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00738.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0260a0001c0001t0001g0283a0001c0001t0001g0284others(36): Show | 41 | 366 | 0.1120 | -79 | c.-1+ others(96): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807339 | TCCCCCCT others(72): Show |
T | downstream_gene_variant | MODIFIER | HG03834.hp2 NA18980.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0251a0002c0002t0002g0023 | 2 | 314 | 0.0064 | -79 | c.*31 others(90): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3053 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807697 | TCCCCCCT others(72): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0126 | 1 | 314 | 0.0032 | -79 | c.*35 others(90): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3411 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807939 | TCCCCCCT others(72): Show |
T | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 314 | 0.0032 | -79 | c.*37 others(90): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3653 | chr2 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230275958 | ATATATAC others(72): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(122): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(40): Show | a0001c0001t0003g0024a0001c0001t0003g0025a0001c0001t0003g0027others(122): Show | 125 | 324 | 0.3858 | -79 | c.156 others(98): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT2_chr1_230062238_230287122 | 230276010 | GTATATAT others(72): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0168 | 1 | 324 | 0.0031 | -79 | c.156 others(98): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GAS6_chr13_113815549_113869076 | 113841665 | CCCCCAGT others(72): Show |
C | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 143 | 0.0070 | -79 | c.344 others(96): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116196628 | AATATATA others(72): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 |
a0001a0003 | a0001c0001a0003c0015 | a0001c0001t0002a0003c0015t0094 | a0001c0001t0002g0159a0003c0015t0094g0046 | 2 | 214 | 0.0094 | -79 | c.433 others(98): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116265499 | ATTTCTCA others(72): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0012 | a0001c0012t0009 | a0001c0012t0009g0168 | 1 | 214 | 0.0047 | -79 | c.418 others(96): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 4/10 | chr10 | TogoVar | ||||||
GGT5_chr22_24214660_24250082 | 24238812 | ATTATATA others(72): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0007 | a0007c0015 | a0007c0015t0003 | a0007c0015t0003g0380 | 1 | 420 | 0.0024 | -79 | c.174 others(96): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132776123 | GTGCTCCC others(72): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(155): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(56): Show | a0001c0001t0001g0036a0001c0001t0002g0121a0001c0001t0004g0079others(155): Show | 158 | 308 | 0.5130 | -79 | c.397 others(96): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 21/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132776452 | ACCCAGCG others(72): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0181 | 1 | 308 | 0.0033 | -79 | c.397 others(96): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 21/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132776503 | TTCCTTCC others(72): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(124): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0009others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(40): Show | a0001c0001t0001g0036a0001c0001t0002g0121a0001c0003t0002g0196others(124): Show | 127 | 308 | 0.4123 | -79 | c.397 others(95): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 21/23 | chr12 | TogoVar | ||||||
GP1BA_chr17_4927277_4940023 | 4933871 | ACCCCGGA others(72): Show |
A | frameshift_variant | HIGH | NA18987.hp1 | a0015 | a0015c0017 | a0015c0017t0003 | a0015c0017t0003g0001 | 1 | 424 | 0.0024 | -79 | c.127 others(88): Show |
p.Pro others(5): Show |
GP1BA | ENSG00000185245.9 | transcript | ENST00000329125.6 | protein_coding | 2/2 | 1366/2514 | 1271/1959 | 424/652 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
GRID2_chr4_92298966_93779566 | 92384547 | AATATATA others(72): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 HG02698.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(5): Show | 8 | 34 | 0.2353 | -79 | c.88+ others(96): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GRID2_chr4_92298966_93779566 | 93244489 | CTATTAAT others(72): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0002 | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0022others(3): Show | 6 | 34 | 0.1765 | -79 | c.124 others(98): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GRTP1_chr13_113319163_113369130 | 113330763 | CGTGGAAA others(72): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01175.hp1 HG01258.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0069a0001c0001t0001g0076others(14): Show | 17 | 288 | 0.0590 | -79 | c.563 others(96): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169579 | ATATATAA others(72): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0107 | a0001c0001t0044g0192a0001c0001t0044g0193a0001c0001t0107g0073 | 3 | 384 | 0.0078 | -79 | c.-34 others(94): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
H4C11_chr6_27819092_27829480 | 27826866 | TCCCGGAC others(72): Show |
T | downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 396 | 0.0025 | -79 | c.*24 others(90): Show |
H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 2387 | chr6 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87378877 | TATAAATA others(72): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01433.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0146a0001c0002t0003g0147 | 2 | 390 | 0.0051 | -79 | c.318 others(96): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
HTR1F_chr3_87787706_87998839 | 87802205 | TTCCCTCC others(72): Show |
T | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 250 | 0.0040 | -79 | c.-16 others(98): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |