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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLAIN1_chr13_77692687_77769229 | 77703963 | T | TATGTTTT others(816): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 246 | 0.0041 | 823 | c.626 others(840): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703963 | T | TATGTTTT others(816): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 246 | 0.0041 | 823 | c.626 others(840): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(816): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01934.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0041a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0041t0001others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0003g0110 others(5): Show |
8 | 9 | 0.8889 | 823 | c.227 others(842): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642100 | T | TGGGGGGG others(816): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 | 1 | 354 | 0.0028 | 823 | c.*66 others(834): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4514 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(816): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | 823 | c.*64 others(834): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(816): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 31 | 0.0323 | 823 | c.638 others(838): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377604 | T | TCTCCCCT others(816): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01975.hp2 HG02004.hp1 others(8): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0004a0003c0006others(3): Show | a0001c0001t0001a0001c0004t0002a0003c0006t0001others(3): Show | a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0053 others(8): Show |
11 | 92 | 0.1196 | 823 | c.-25 others(842): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | |||||||
TPPP_chr5_654862_698352 | 689512 | G | GGACACAG others(816): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 97 | 0.0103 | 823 | c.-5+ others(838): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21448226 | A | ATCCGGGA others(816): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0040 | 1 | 184 | 0.0054 | 823 | c.118 others(842): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21448226 | A | ATCCGGGA others(816): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01106.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 others(11): Show |
14 | 197 | 0.0711 | 823 | c.118 others(842): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(817): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0005 | 1 | 201 | 0.0050 | 824 | c.130 others(843): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(817): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 201 | 0.0050 | 824 | c.130 others(843): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109225287 | T | TTGACTTA others(817): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0006 | a0006c0031 | a0006c0031t0013 | a0006c0031t0013g0205 | 1 | 306 | 0.0033 | 824 | c.388 others(843): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 27/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(817): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 30 | 0.0333 | 824 | c.505 others(843): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(817): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0133 | 1 | 112 | 0.0089 | 824 | c.48- others(841): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(817): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 8 | 0.1250 | 824 | c.-70 others(833): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(817): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0014 | a0014c0084 | a0014c0084t0006 | a0014c0084t0006g0114 | 1 | 103 | 0.0097 | 824 | c.300 others(841): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDC27_chr17_47112703_47194295 | 47131877 | C | CCCAGGCT others(817): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 179 | 0.0056 | 824 | c.203 others(841): Show |
CDC27 | ENSG00000004897.12 | transcript | ENST00000066544.8 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CDC27_chr17_47112703_47194295 | 47131877 | C | CCCAGGCT others(817): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 a0001c0001t0002g0278 |
2 | 180 | 0.0111 | 824 | c.203 others(841): Show |
CDC27 | ENSG00000004897.12 | transcript | ENST00000066544.8 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CDC27_chr17_47112703_47194295 | 47131877 | C | CCCAGGCT others(817): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(142): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0279 others(140): Show |
145 | 323 | 0.4489 | 824 | c.203 others(841): Show |
CDC27 | ENSG00000004897.12 | transcript | ENST00000066544.8 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CDC27_chr17_47112703_47194295 | 47131877 | C | CCCAGGCT others(817): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0007g0047 a0001c0001t0007g0051 a0001c0001t0007g0058 others(16): Show |
21 | 199 | 0.1055 | 824 | c.203 others(841): Show |
CDC27 | ENSG00000004897.12 | transcript | ENST00000066544.8 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CDC27_chr17_47112703_47194295 | 47131877 | C | CCCAGGCT others(817): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 179 | 0.0056 | 824 | c.203 others(841): Show |
CDC27 | ENSG00000004897.12 | transcript | ENST00000066544.8 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CDC27_chr17_47112703_47194295 | 47131877 | C | CCCAGGCT others(817): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 179 | 0.0056 | 824 | c.203 others(841): Show |
CDC27 | ENSG00000004897.12 | transcript | ENST00000066544.8 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CDC27_chr17_47112703_47194295 | 47131877 | C | CCCAGGCT others(817): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 179 | 0.0056 | 824 | c.203 others(841): Show |
CDC27 | ENSG00000004897.12 | transcript | ENST00000066544.8 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CDC27_chr17_47112703_47194295 | 47131877 | C | CCCAGGCT others(817): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 179 | 0.0056 | 824 | c.203 others(841): Show |
CDC27 | ENSG00000004897.12 | transcript | ENST00000066544.8 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(817): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0247 | 1 | 38 | 0.0263 | 824 | c.248 others(841): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(817): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0049 | 1 | 38 | 0.0263 | 824 | c.248 others(841): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(817): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0298 | 1 | 38 | 0.0263 | 824 | c.248 others(841): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(817): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 38 | 0.0263 | 824 | c.248 others(841): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(817): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 38 | 0.0263 | 824 | c.248 others(841): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(817): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0012 | 1 | 74 | 0.0135 | 824 | c.937 others(839): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255826 | A | AGGGGAAA others(817): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016 | 1 | 294 | 0.0034 | 824 | c.85- others(841): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(817): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0229 |
3 | 350 | 0.0086 | 824 | c.51+ others(839): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(817): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0117 | 1 | 302 | 0.0033 | 824 | c.513 others(841): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(817): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0137 | 1 | 302 | 0.0033 | 824 | c.513 others(841): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(817): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0133 | 1 | 302 | 0.0033 | 824 | c.513 others(841): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(817): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 78 | 0.0128 | 824 | c.183 others(843): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89635067 | T | TCCTTTCC others(817): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 242 | 0.0041 | 824 | c.105 others(839): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(817): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0015 | a0002c0015t0044 | a0002c0015t0044g0083 | 1 | 2 | 0.5000 | 824 | c.928 others(841): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925804 | T | TTGGTTGG others(817): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 | 1 | 364 | 0.0027 | 824 | c.666 others(841): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925812 | A | ATGGATGG others(817): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0058 | 1 | 354 | 0.0028 | 824 | c.666 others(841): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(817): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 285 | 0.0035 | 824 | c.666 others(841): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(817): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0064 | 1 | 285 | 0.0035 | 824 | c.666 others(841): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(817): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 285 | 0.0035 | 824 | c.666 others(841): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(817): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 285 | 0.0035 | 824 | c.666 others(841): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(817): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0070 | 1 | 285 | 0.0035 | 824 | c.666 others(841): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(817): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 89 | 0.0112 | 824 | c.666 others(841): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400231 | C | CCCTCCCC others(817): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 | 1 | 252 | 0.0040 | 824 | c.*66 others(835): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3243 | chr2 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173147 | C | CCTCTCTC others(817): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0019 | a0001c0019t0014 | a0001c0019t0014g0085 | 1 | 141 | 0.0071 | 824 | c.*11 others(845): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(817): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0038 | 1 | 5 | 0.2000 | 824 | c.-41 others(839): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |