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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAIAP2_chr17_81030151_81122434 | 81054101 | AGGGTGGG others(41): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 368 | 0.0027 | -48 | c.130 others(63): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81056794 | CTTCTGCT others(41): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 60 | 0.0167 | -48 | c.131 others(63): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BATF2_chr11_64982945_65001971 | 64983512 | TTATTTTA others(41): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp2 HG02615.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0007g0035 |
4 | 388 | 0.0103 | -48 | c.*55 others(59): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4432 | chr11 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72725897 | CCCCATCC others(41): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0287 | 1 | 396 | 0.0025 | -48 | c.587 others(65): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169505978 | CAGCCGCC others(41): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0162 | 1 | 396 | 0.0025 | -48 | c.*14 others(59): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 12/12 | 1416 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BCL11A_chr2_60452194_60558654 | 60467525 | ATGGTGAT others(41): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0212 | 1 | 195 | 0.0051 | -48 | c.487 others(65): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60507213 | AGGAAGGA others(41): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 201 | 0.0050 | -48 | c.386 others(67): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL2_chr18_63118346_63324769 | 63169248 | TTTTCTTT others(41): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 128 | 0.0078 | -48 | c.586 others(67): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCLAF3_chrX_19907860_19996061 | 19995628 | AGAAAGAA others(41): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02630.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015 | a0001c0001t0007g0008 a0001c0001t0007g0010 a0001c0001t0007g0011 others(3): Show |
6 | 205 | 0.0293 | -48 | c.-48 others(59): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4568 | chrX | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71525593 | CCCCCCAA others(41): Show |
C | intron_variant | MODIFIER | HG01192.hp1 NA19006.hp1 |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0002a0007c0006t0002 | a0001c0001t0002g0063 a0007c0006t0002g0084 |
2 | 324 | 0.0062 | -48 | c.577 others(67): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 25/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(41): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0004t0047 | a0001c0001t0013g0045 a0001c0004t0047g0124 |
2 | 170 | 0.0118 | -48 | c.241 others(65): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17517395 | TGCCTCAG others(41): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0325 | 1 | 394 | 0.0025 | -48 | c.439 others(65): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(41): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG06807.hp2 |
a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0050 a0002c0003t0016g0051 |
2 | 20 | 0.1000 | -48 | c.307 others(67): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17756428 | CTTTCTTC others(41): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(172): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(167): Show |
175 | 360 | 0.4861 | -48 | c.-58 others(65): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32548317 | TTTTTTTT others(41): Show |
T | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 272 | 0.0037 | -48 | c.129 others(67): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 64/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11560151 | GTGGGTGG others(41): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02683.hp1 others(11): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0015a0001c0002t0012a0001c0004t0009others(4): Show | a0001c0001t0015g0073 a0001c0002t0012g0250 a0001c0004t0009g0207 others(10): Show |
14 | 250 | 0.0560 | -48 | c.103 others(67): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284150 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 312 | 0.0032 | -48 | c.-26 others(67): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13284186 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0295 a0001c0001t0001g0296 others(4): Show |
8 | 303 | 0.0264 | -48 | c.-26 others(67): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829015 | AATAACTC others(41): Show |
A | intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0160 | 1 | 202 | 0.0050 | -48 | c.297 others(65): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
BMPR2_chr2_202371327_202572749 | 202534906 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 222 | 0.0045 | -48 | c.127 others(67): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BNIP5_chr6_36310761_36341888 | 36324575 | TTATATAT others(41): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0070 | 1 | 42 | 0.0238 | -48 | c.116 others(65): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424596 | TTCTTCTC others(41): Show |
T | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 416 | 0.0024 | -48 | c.121 others(67): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67843166 | ATAGATAC others(41): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00741.hp1 others(17): Show |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0001a0010c0017t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(17): Show |
20 | 272 | 0.0735 | -48 | c.614 others(67): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2534203 | ATCCCCCC others(41): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0025 a0001c0002t0005g0060 a0001c0002t0005g0061 |
4 | 422 | 0.0095 | -48 | c.*38 others(59): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3606 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2534204 | TCCCCCCA others(41): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 422 | 0.0024 | -48 | c.*38 others(59): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3605 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2534226 | GGGGCGGC others(41): Show |
G | downstream_gene_variant | MODIFIER | HG02074.hp1 HG02630.hp1 HG02717.hp1 others(4): Show |
a0002a0008a0016 | a0002c0004a0008c0009a0016c0018 | a0002c0004t0001a0008c0009t0003a0016c0018t0003 | a0002c0004t0001g0275 a0008c0009t0003g0013 a0008c0009t0003g0031 others(1): Show |
7 | 422 | 0.0166 | -48 | c.*37 others(59): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3583 | chr7 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100583 | AACATATA others(41): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0241 | 1 | 274 | 0.0036 | -48 | c.442 others(63): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43100585 | CATATATA others(41): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01952.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0250 a0004c0004t0001g0251 |
2 | 271 | 0.0074 | -48 | c.442 others(63): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98279027 | AGGGGCAT others(41): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0071 a0001c0001t0001g0079 |
5 | 412 | 0.0121 | -48 | c.-27 others(59): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 2658 | chr7 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190203750 | AATATATA others(41): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02970.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(1): Show |
4 | 8 | 0.5000 | -48 | c.961 others(67): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35824662 | CGGCTGGC others(41): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0262 |
2 | 370 | 0.0054 | -48 | c.-18 others(59): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1675 | chr14 | TogoVar | |||||||
BRSK1_chr19_55278997_55317562 | 55308752 | TGGGGGGC others(41): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01255.hp1 HG01346.hp2 others(10): Show |
a0001a0002 | a0001c0004a0001c0009a0002c0003 | a0001c0004t0017a0001c0009t0003a0002c0003t0002others(2): Show | a0001c0004t0017g0043 a0001c0009t0003g0146 a0002c0003t0002g0008 others(8): Show |
13 | 327 | 0.0398 | -48 | c.217 others(63): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BRSK1_chr19_55278997_55317562 | 55308774 | CCGTGGGT others(41): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0139 |
2 | 146 | 0.0137 | -48 | c.217 others(64): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1417906 | ACACTGTG others(41): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02258.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0015 | a0001c0001t0006g0246 a0002c0002t0015g0327 |
2 | 358 | 0.0056 | -48 | c.92- others(65): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1426241 | CGGGGATG others(41): Show |
C | intron_variant | MODIFIER | NA18966.hp1 NA18975.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0070 a0001c0001t0009g0081 a0001c0001t0009g0082 |
3 | 356 | 0.0084 | -48 | c.92- others(63): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BSCL2_chr11_62685275_62712424 | 62711561 | TTAAAAAA others(41): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0229 |
2 | 328 | 0.0061 | -48 | c.-44 others(59): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 4138 | chr11 | TogoVar | |||||||
BSG_chr19_567596_588493 | 585322 | ACCCCGTC others(41): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01891.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0001a0001c0004t0003 | a0001c0001t0003g0159 a0001c0002t0001g0006 a0001c0004t0003g0022 |
3 | 277 | 0.0108 | -48 | c.*25 others(59): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1830 | chr19 | TogoVar | |||||||
C12orf40_chr12_39621183_39726914 | 39711539 | ATATGTAT others(41): Show |
A | intron_variant | MODIFIER | NA18522.hp2 NA19006.hp2 NA20129.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0196 a0005c0005t0001g0335 a0005c0005t0001g0336 |
3 | 358 | 0.0084 | -48 | c.141 others(67): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39711550 | CATACACA others(41): Show |
C | intron_variant | MODIFIER | HG02004.hp1 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0312 |
2 | 358 | 0.0056 | -48 | c.141 others(67): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C13orf46_chr13_113948705_113979076 | 113958179 | CTGCACCC others(41): Show |
C | intron_variant | MODIFIER | HG02572.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035 | a0001c0001t0001g0137 a0001c0001t0035g0166 |
2 | 412 | 0.0049 | -48 | c.573 others(65): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 6/6 | chr13 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56789964 | AAGAGAAA others(41): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 290 | 0.0034 | -48 | c.*23 others(59): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 1948 | chr17 | TogoVar | |||||||
C1QBP_chr17_5427777_5444155 | 5442988 | GATTGTCC others(41): Show |
G | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 406 | 0.0025 | -48 | c.-39 others(59): Show |
C1QBP | ENSG00000108561.8 | transcript | ENST00000225698.8 | protein_coding | 3834 | chr17 | TogoVar | |||||||
C1QTNF8_chr16_1083226_1101244 | 1091820 | AGCCACCA others(41): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0053 | a0001c0001t0005g0117 a0001c0001t0007g0006 a0001c0001t0007g0062 others(5): Show |
18 | 394 | 0.0457 | -48 | c.*5- others(63): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74077771 | GTATATAT others(41): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0165 |
3 | 238 | 0.0126 | -48 | c.460 others(65): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74077799 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02257.hp2 HG02258.hp2 others(5): Show |
a0005a0006 | a0005c0006a0005c0027a0006c0008 | a0005c0006t0001a0005c0027t0001a0006c0008t0001 | a0005c0006t0001g0006 a0005c0006t0001g0007 a0005c0006t0001g0013 others(5): Show |
8 | 308 | 0.0260 | -48 | c.460 others(65): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201563121 | TGGGGCGG others(41): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(128): Show |
a0001a0002a0007others(12): Show | a0001c0001a0001c0016a0002c0002others(14): Show | a0001c0001t0001a0001c0016t0001a0002c0002t0001others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 others(128): Show |
131 | 267 | 0.4906 | -48 | c.977 others(65): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 9/15 | chr2 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201563421 | CCCCCTCA others(41): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(121): Show |
a0001a0002a0007others(11): Show | a0001c0001a0001c0016a0002c0002others(12): Show | a0001c0001t0001a0001c0016t0001a0002c0002t0001others(12): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0061 others(121): Show |
124 | 268 | 0.4627 | -48 | c.977 others(65): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 9/15 | chr2 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201563426 | TCACCTCC others(41): Show |
T | intron_variant | MODIFIER | HG02970.hp1 HG03688.hp1 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0001 | a0002c0002t0001g0044 a0004c0005t0001g0178 |
2 | 247 | 0.0081 | -48 | c.977 others(65): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 9/15 | chr2 | TogoVar | |||||||
C2_chr6_31922717_31950672 | 31931898 | CCCCCCAC others(41): Show |
C | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | -48 | c.443 others(65): Show |
C2 | ENSG00000166278.16 | transcript | ENST00000299367.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C2_chr6_31922717_31950672 | 31931945 | ATCCCCCC others(41): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 394 | 0.0025 | -48 | c.443 others(65): Show |
C2 | ENSG00000166278.16 | transcript | ENST00000299367.10 | protein_coding | 3/17 | chr6 | TogoVar |