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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(927): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0028 | a0001c0028t0002 | a0001c0028t0002g0216 | 1 | 125 | 0.0080 | 934 | c.-49 others(945): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(927): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 213 | 0.0047 | 934 | c.250 others(949): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(927): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0106 | 1 | 213 | 0.0047 | 934 | c.250 others(949): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(927): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 210 | 0.0048 | 934 | c.-5+ others(949): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241805556 | A | ACCCTCCC others(927): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0172 | 1 | 184 | 0.0054 | 934 | c.-37 others(945): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3636 | chr2 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(927): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 261 | 0.0038 | 934 | c.91+ others(947): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 810309 | G | GCGGCGTG others(927): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0200 | 1 | 174 | 0.0057 | 934 | c.821 others(951): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(927): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 24 | 0.0417 | 934 | c.371 others(951): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(927): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 24 | 0.0417 | 934 | c.371 others(951): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325147 | T | TGAGTGAG others(927): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 380 | 0.0026 | 934 | c.194 others(951): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(927): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 129 | 0.0078 | 934 | c.-75 others(953): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(927): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 10 | 0.1000 | 934 | c.-48 others(945): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852189 | C | CCCATGGC others(927): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 351 | 0.0028 | 934 | c.645 others(951): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(927): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0007 | 1 | 3 | 0.3333 | 934 | c.597 others(951): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(927): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 149 | 0.0067 | 934 | c.*73 others(945): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(927): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 NA18965.hp1 NA19085.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 a0001c0002t0002g0047 a0001c0002t0002g0051 others(1): Show |
4 | 152 | 0.0263 | 934 | c.*73 others(945): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(927): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 31 | 0.0323 | 934 | c.638 others(949): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(927): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19030.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0010 a0001c0001t0004g0021 a0001c0001t0004g0022 |
3 | 33 | 0.0909 | 934 | c.638 others(949): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(927): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0225 | 1 | 285 | 0.0035 | 934 | c.199 others(951): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(927): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0180 | 1 | 54 | 0.0185 | 934 | c.-35 others(945): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | |||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(927): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01884.hp2 HG01993.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0004others(18): Show | a0001c0001t0001g0190 a0001c0001t0012g0193 a0001c0002t0004g0188 others(22): Show |
25 | 78 | 0.3205 | 934 | c.-35 others(945): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | |||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(927): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0059 a0001c0001t0020g0060 |
2 | 55 | 0.0364 | 934 | c.-35 others(945): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | |||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(927): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02280.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0095a0001c0001t0096others(7): Show | a0001c0001t0005g0170 a0001c0001t0005g0174 a0001c0001t0005g0175 others(15): Show |
19 | 72 | 0.2639 | 934 | c.-35 others(945): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | |||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(927): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG02698.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0001t0043a0001c0001t0046others(10): Show | a0001c0001t0022g0023 a0001c0001t0043g0022 a0001c0001t0046g0025 others(11): Show |
14 | 67 | 0.2090 | 934 | c.-35 others(945): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7679092 | T | TATAAATA others(927): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 105 | 0.0095 | 934 | c.82+ others(949): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(927): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0112 | 1 | 2 | 0.5000 | 934 | c.*53 others(945): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159104793 | T | TGACCGGG others(927): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0148 | 1 | 290 | 0.0034 | 934 | c.260 others(949): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 595543 | C | CTGGAGGA others(927): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0118 | 1 | 3 | 0.3333 | 934 | c.121 others(953): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 754461 | C | CCTGTGAG others(927): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp1 others(27): Show |
a0001 | a0001c0003a0001c0004a0001c0037 | a0001c0003t0003a0001c0003t0006a0001c0003t0010others(8): Show | a0001c0003t0003g0001 a0001c0003t0003g0056 a0001c0003t0003g0063 others(26): Show |
30 | 120 | 0.2500 | 934 | c.503 others(949): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 6/13 | chr5 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(928): Show |
intron_variant | MODIFIER | HG00323.hp1 NA19074.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0102 a0001c0002t0002g0169 |
2 | 13 | 0.1538 | 935 | c.387 others(954): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(928): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01256.hp1 HG01361.hp2 others(7): Show |
a0001a0002a0004 | a0001c0017a0001c0025a0001c0041others(4): Show | a0001c0017t0002a0001c0025t0009a0001c0041t0009others(4): Show | a0001c0017t0002g0085 a0001c0025t0009g0122 a0001c0041t0009g0127 others(7): Show |
10 | 21 | 0.4762 | 935 | c.387 others(954): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(928): Show |
intron_variant | MODIFIER | HG01074.hp2 NA19065.hp2 |
a0001a0009 | a0001c0003a0009c0037 | a0001c0003t0002a0009c0037t0002 | a0001c0003t0002g0107 a0009c0037t0002g0110 |
2 | 13 | 0.1538 | 935 | c.387 others(954): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(928): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01069.hp1 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0002others(9): Show | a0001c0001t0002g0066 a0001c0001t0002g0084 a0001c0001t0002g0196 others(18): Show |
21 | 32 | 0.6563 | 935 | c.387 others(954): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(928): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0006 | a0006c0027 | a0006c0027t0002 | a0006c0027t0002g0137 | 1 | 12 | 0.0833 | 935 | c.387 others(954): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173225 | A | ACATCACC others(928): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0259 | 1 | 278 | 0.0036 | 935 | c.61+ others(950): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(928): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 202 | 0.0050 | 935 | c.61+ others(950): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(928): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0005 | a0005c0032 | a0005c0032t0053 | a0005c0032t0053g0060 | 1 | 25 | 0.0400 | 935 | c.259 others(956): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(928): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0127 | 1 | 30 | 0.0333 | 935 | c.505 others(954): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(928): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01515.hp1 HG01516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0002t0001g0117 others(2): Show |
5 | 6 | 0.8333 | 935 | c.276 others(954): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(928): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0078 | 1 | 112 | 0.0089 | 935 | c.217 others(954): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(928): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0094 | 1 | 112 | 0.0089 | 935 | c.217 others(954): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140192 | T | TGGAGGGG others(928): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0059 | 1 | 207 | 0.0048 | 935 | c.217 others(954): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140203 | G | GCCCCCCG others(928): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0115 | 1 | 224 | 0.0045 | 935 | c.217 others(954): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(928): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0160 | 1 | 152 | 0.0066 | 935 | c.217 others(954): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79172210 | C | CCCTTGCG others(928): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0268 | 1 | 286 | 0.0035 | 935 | c.779 others(952): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79172210 | C | CCCTTGCG others(928): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01167.hp1 others(6): Show |
a0001a0004 | a0001c0006a0004c0008a0004c0036 | a0001c0006t0003a0001c0006t0004a0004c0008t0001others(1): Show | a0001c0006t0003g0267 a0001c0006t0004g0273 a0004c0008t0001g0001 others(5): Show |
9 | 294 | 0.0306 | 935 | c.779 others(952): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(928): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 | 1 | 296 | 0.0034 | 935 | c.*36 others(946): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1003316 | G | GTCCTGTG others(928): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02723.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0278 a0002c0002t0003g0288 a0002c0002t0003g0299 others(4): Show |
7 | 318 | 0.0220 | 935 | c.324 others(952): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGAGAA others(928): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0137 | 1 | 250 | 0.0040 | 935 | c.303 others(954): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(928): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01070.hp1 HG01106.hp2 others(16): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0004a0002c0003t0002 | a0001c0002t0002g0079 a0001c0002t0002g0086 a0001c0002t0002g0094 others(15): Show |
19 | 88 | 0.2159 | 935 | c.*51 others(946): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar |