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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUP93_chr16_56725129_56855286 | 56739517 | G | GGGGGGGC others(853): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0042 | a0001c0003t0042g0286 | 1 | 378 | 0.0027 | 860 | c.-14 others(877): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739517 | G | GGGGGGGC others(853): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 378 | 0.0027 | 860 | c.-14 others(877): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739517 | G | GGGGGGGC others(853): Show |
intron_variant | MODIFIER | NA18981.hp2 NA19000.hp2 NA19090.hp1 |
a0001a0002 | a0001c0003a0002c0008 | a0001c0003t0002a0002c0008t0002 | a0001c0003t0002g0287a0001c0003t0002g0296a0002c0008t0002g0301 | 3 | 378 | 0.0079 | 860 | c.-14 others(877): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739517 | G | GGGGGGGC others(853): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG02300.hp1 others(1): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0002a0001c0006t0009 | a0001c0003t0002g0288a0001c0003t0002g0289a0001c0003t0002g0290others(1): Show | 4 | 378 | 0.0106 | 860 | c.-14 others(877): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739527 | A | ACTCCCCC others(853): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326a0001c0001t0001g0327 | 2 | 378 | 0.0053 | 860 | c.-14 others(877): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739527 | A | ACTCCCCC others(853): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0004 | a0001c0004t0044 | a0001c0004t0044g0179 | 1 | 378 | 0.0027 | 860 | c.-14 others(877): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56739527 | A | ACTCCCCC others(853): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02109.hp2 HG03139.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0002a0001c0003t0020a0001c0006t0009 | a0001c0003t0002g0282a0001c0003t0020g0283a0001c0006t0009g0249 | 3 | 378 | 0.0079 | 860 | c.-14 others(877): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDE1C_chr7_31746179_32075407 | 31886791 | T | TTTCGGAT others(853): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 262 | 0.0038 | 860 | c.129 others(877): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCTCCT others(853): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 | 1 | 312 | 0.0032 | 860 | c.306 others(879): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(853): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0030 | a0002c0030t0047 | a0002c0030t0047g0206 | 1 | 210 | 0.0048 | 860 | c.438 others(879): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(853): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02809.hp2 HG02922.hp1 others(2): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0082a0001c0004t0010a0002c0003t0004others(2): Show | a0001c0001t0082g0067a0001c0004t0010g0130a0002c0003t0004g0068others(2): Show | 5 | 210 | 0.0238 | 860 | c.438 others(879): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2106681 | A | AACTCTCA others(853): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 286 | 0.0035 | 860 | c.335 others(879): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABL6_chr9_136802948_136846187 | 136803215 | G | GGGGGCCC others(853): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 330 | 0.0030 | 860 | c.-49 others(871): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4732 | chr9 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388407 | T | TTATAGCT others(853): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 304 | 0.0033 | 860 | c.66+ others(875): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(853): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 304 | 0.0033 | 860 | c.66+ others(875): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(853): Show |
intron_variant | MODIFIER | HG01099.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0290 | 2 | 304 | 0.0066 | 860 | c.66+ others(875): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(853): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 304 | 0.0033 | 860 | c.66+ others(875): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(853): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 304 | 0.0033 | 860 | c.66+ others(875): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(853): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03927.hp1 HG04228.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253a0001c0001t0001g0254a0001c0001t0001g0255others(1): Show | 4 | 304 | 0.0132 | 860 | c.66+ others(875): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(853): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 338 | 0.0030 | 860 | c.-26 others(879): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(853): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18984.hp1 NA19065.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0110a0001c0001t0004g0118a0001c0002t0002g0028 | 3 | 338 | 0.0089 | 860 | c.-26 others(879): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(853): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 | 1 | 334 | 0.0030 | 860 | c.45- others(875): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTATATTA others(853): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0022a0001c0001t0006g0023 | 2 | 160 | 0.0125 | 860 | c.389 others(881): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322945 | T | CATTATAT others(853): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 160 | 0.0063 | 860 | c.389 others(881): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | ||||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(853): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02818.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 3 | 394 | 0.0076 | 860 | c.135 others(877): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(853): Show |
intron_variant | MODIFIER | NA18961.hp1 NA18975.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0158a0001c0002t0001g0083 | 2 | 394 | 0.0051 | 860 | c.135 others(877): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(853): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(114): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0015others(47): Show | 117 | 394 | 0.2970 | 860 | c.135 others(877): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(853): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0015 | a0015c0023 | a0015c0023t0001 | a0015c0023t0001g0114 | 1 | 394 | 0.0025 | 860 | c.135 others(877): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(853): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03942.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0050 | 2 | 394 | 0.0051 | 860 | c.135 others(877): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(853): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0014 | a0014c0022 | a0014c0022t0001 | a0014c0022t0001g0113 | 1 | 394 | 0.0025 | 860 | c.135 others(877): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SLC6A11_chr3_10811228_10945714 | 10873397 | A | ATCCTATC others(853): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0104 | 1 | 362 | 0.0028 | 860 | c.757 others(877): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC6A11_chr3_10811228_10945714 | 10873402 | A | ATCCTATC others(853): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0235 | 1 | 362 | 0.0028 | 860 | c.757 others(877): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(853): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0011 | a0002c0011t0005 | a0002c0011t0005g0075 | 1 | 132 | 0.0076 | 860 | c.227 others(879): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
TECPR2_chr14_102357941_102507477 | 102483944 | C | CCGCCACC others(853): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0005 | 1 | 334 | 0.0030 | 860 | c.379 others(881): Show |
TECPR2 | ENSG00000196663.16 | transcript | ENST00000359520.12 | protein_coding | 17/19 | chr14 | TogoVar | ||||||
TENM4_chr11_78647829_79446030 | 78879329 | A | AGGAGCGC others(853): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0008 | a0008c0015 | a0008c0015t0016 | a0008c0015t0016g0084 | 1 | 94 | 0.0106 | 860 | c.108 others(881): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 9/33 | chr11 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273733 | C | CCACACAT others(853): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 392 | 0.0026 | 860 | c.228 others(879): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747490 | G | GTCTGGGG others(853): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0204 | 1 | 314 | 0.0032 | 860 | c.189 others(875): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(853): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0123 | 1 | 128 | 0.0078 | 860 | c.143 others(881): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132D_chr12_129066726_129909025 | 129828738 | A | AGGAGGGA others(853): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0051 | 1 | 94 | 0.0106 | 860 | c.79+ others(877): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TNS1_chr2_217794791_218007995 | 217805592 | C | CCACCACA others(853): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0009 | a0009c0102 | a0009c0102t0108 | a0009c0102t0108g0232 | 1 | 244 | 0.0041 | 860 | c.537 others(877): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3437768 | T | TCACCCCA others(853): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0126 | 1 | 344 | 0.0029 | 860 | c.141 others(879): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
XPR1_chr1_180627022_180895279 | 180672801 | T | TTTTTTTT others(853): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 330 | 0.0030 | 860 | c.70- others(875): Show |
XPR1 | ENSG00000143324.14 | transcript | ENST00000367590.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(854): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0143 | 1 | 262 | 0.0038 | 861 | c.775 others(876): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(854): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 336 | 0.0030 | 861 | c.94+ others(876): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(854): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 336 | 0.0030 | 861 | c.94+ others(876): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(854): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 336 | 0.0030 | 861 | c.94+ others(876): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(854): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 336 | 0.0030 | 861 | c.94+ others(876): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(854): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 336 | 0.0030 | 861 | c.94+ others(876): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(854): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 376 | 0.0027 | 861 | c.63+ others(874): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539706 | T | TTTCATAA others(854): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0055 | 1 | 104 | 0.0096 | 861 | c.139 others(882): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |