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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRINP1_chr9_119161629_119374435 | 119230072 | TGAGAGAG others(19): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 236 | 0.0042 | -26 | c.685 others(43): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190203750 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01934.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0017a0001c0001t0001g0044a0001c0001t0001g0082others(8): Show | 11 | 240 | 0.0458 | -26 | c.961 others(45): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190405467 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0095a0001c0001t0002g0206a0001c0001t0005g0003 | 3 | 240 | 0.0125 | -26 | c.236 others(45): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61772157 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0084 | 1 | 266 | 0.0038 | -26 | c.209 others(45): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61823757 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | NA19079.hp1 NA19091.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0005 | a0001c0001t0001g0053a0002c0003t0005g0050 | 2 | 266 | 0.0075 | -26 | c.628 others(45): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | GTATATAT others(19): Show |
G | downstream_gene_variant | MODIFIER | NA18982.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0249 | 2 | 374 | 0.0054 | -26 | c.*27 others(37): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1439780 | AGGGCTTC others(19): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0161 | 1 | 360 | 0.0028 | -26 | c.273 others(41): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1439843 | CCTTCCCC others(19): Show |
C | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 360 | 0.0028 | -26 | c.273 others(41): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39217025 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG01257.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0022a0001c0001t0003g0314a0001c0001t0004g0257others(8): Show | 11 | 338 | 0.0325 | -26 | c.365 others(45): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39241473 | TAAAAAAA others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG02145.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0011a0001c0001t0036others(1): Show | a0001c0001t0002g0045a0001c0001t0011g0070a0001c0001t0011g0071others(5): Show | 8 | 338 | 0.0237 | -26 | c.248 others(45): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113357886 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01106.hp1 others(44): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0020a0001c0001t0001g0236a0001c0001t0002g0050others(38): Show | 47 | 448 | 0.1049 | -26 | c.301 others(43): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BSPRY_chr9_113344541_113376222 | 113357918 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02109.hp1 HG02257.hp2 others(7): Show |
a0001a0007 | a0001c0002a0001c0005a0007c0014 | a0001c0002t0001a0001c0002t0002a0001c0002t0027others(3): Show | a0001c0002t0001g0277a0001c0002t0002g0032a0001c0002t0002g0082others(7): Show | 10 | 448 | 0.0223 | -26 | c.301 others(43): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BST1_chr4_15698065_15737787 | 15704119 | TAGGTGAG others(19): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 442 | 0.0023 | -26 | c.188 others(41): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BST1_chr4_15698065_15737787 | 15704404 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 442 | 0.0023 | -26 | c.188 others(43): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BST1_chr4_15698065_15737787 | 15736885 | CATGACCT others(19): Show |
C | downstream_gene_variant | MODIFIER | NA18989.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0069 | 1 | 442 | 0.0023 | -26 | c.*50 others(37): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 4099 | chr4 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44816569 | TTATATAT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00741.hp1 others(24): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(18): Show | 27 | 436 | 0.0619 | -26 | c.*27 others(37): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 985 | chr1 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93300748 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0318a0001c0001t0005g0157a0001c0001t0005g0158others(5): Show | 8 | 375 | 0.0213 | -26 | c.-10 others(45): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93335756 | AAAGGAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0341 | 1 | 375 | 0.0027 | -26 | c.-30 others(37): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 2721 | chr14 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38266587 | GGAAAGAA others(19): Show |
G | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0140 | a0001c0001t0140g0155 | 1 | 224 | 0.0045 | -26 | c.145 others(47): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 8/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38465731 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03209.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0175 | a0001c0001t0004g0074a0001c0001t0004g0092a0001c0001t0175g0027 | 3 | 224 | 0.0134 | -26 | c.115 others(49): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38544306 | CCATGGGA others(19): Show |
C | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0121 | 1 | 224 | 0.0045 | -26 | c.115 others(47): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTLA_chr3_112458966_112504472 | 112498322 | AATTGAAC others(19): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0093 | 1 | 344 | 0.0029 | -26 | c.88+ others(39): Show |
BTLA | ENSG00000186265.10 | transcript | ENST00000334529.10 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
BYSL_chr6_41916499_41938046 | 41922164 | AACAACAC others(19): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 464 | 0.0022 | -26 | c.268 others(41): Show |
BYSL | ENSG00000112578.10 | transcript | ENST00000230340.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C10orf71_chr10_49294170_49332492 | 49319682 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0070 | 1 | 424 | 0.0024 | -26 | c.-14 others(45): Show |
C10orf71 | ENSG00000177354.12 | transcript | ENST00000374144.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
C10orf90_chr10_126419997_126675693 | 126480995 | CCCCTCTC others(19): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01070.hp1 HG01071.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0009a0001c0001t0001g0071a0001c0001t0001g0162others(19): Show | 22 | 218 | 0.1009 | -26 | c.153 others(47): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126668809 | CAGCGTAT others(19): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0198 | 1 | 218 | 0.0046 | -26 | c.240 others(43): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
C11orf96_chr11_43937637_43948878 | 43942031 | CGTGCGTG others(19): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0000 | 1 | 438 | 0.0023 | -26 | c.-87 others(35): Show |
C11orf96 | ENSG00000187479.9 | transcript | ENST00000617612.3 | protein_coding | 605 | chr11 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39711565 | GTATATGT others(19): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01123.hp2 HG01169.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0028a0001c0001t0001g0036others(14): Show | 18 | 360 | 0.0500 | -26 | c.141 others(45): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf40_chr12_39621183_39726914 | 39712397 | TGTATATA others(19): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0073 | 1 | 360 | 0.0028 | -26 | c.141 others(45): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf40_chr12_39621183_39726914 | 39712688 | TACGTATA others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(218): Show | 233 | 360 | 0.6472 | -26 | c.141 others(45): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf40_chr12_39621183_39726914 | 39713227 | TATACGTG others(19): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02145.hp2 others(19): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0002a0008c0009t0001 | a0001c0001t0001g0003a0001c0001t0001g0075a0001c0001t0001g0227others(18): Show | 22 | 360 | 0.0611 | -26 | c.141 others(45): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C14orf132_chr14_96034362_96098971 | 96069256 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(49): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0058a0001c0001t0001g0059others(46): Show | 52 | 372 | 0.1398 | -26 | c.28- others(43): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
C14orf28_chr14_44892275_44912257 | 44907965 | TCAAAATA others(19): Show |
T | downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 338 | 0.0030 | -26 | c.*24 others(37): Show |
C14orf28 | ENSG00000179476.8 | transcript | ENST00000325192.8 | protein_coding | 709 | chr14 | TogoVar | ||||||
C14orf93_chr14_22980894_23015143 | 23003880 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0085 | 1 | 344 | 0.0029 | -26 | c.-37 others(45): Show |
C14orf93 | ENSG00000100802.15 | transcript | ENST00000299088.11 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
C15orf39_chr15_75196882_75217169 | 75213504 | AGGCTGGG others(19): Show |
A | downstream_gene_variant | MODIFIER | HG01358.hp2 HG02647.hp2 HG02717.hp1 others(4): Show |
a0002a0004 | a0002c0002a0004c0005a0004c0006 | a0002c0002t0003a0004c0005t0002a0004c0006t0002 | a0002c0002t0003g0028a0004c0005t0002g0008a0004c0006t0002g0007 | 7 | 346 | 0.0202 | -26 | c.*23 others(37): Show |
C15orf39 | ENSG00000167173.19 | transcript | ENST00000394987.5 | protein_coding | 1336 | chr15 | TogoVar | ||||||
C16orf89_chr16_5039122_5070956 | 5055938 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0211 | 1 | 432 | 0.0023 | -26 | c.763 others(40): Show |
C16orf89 | ENSG00000153446.16 | transcript | ENST00000472572.8 | protein_coding | 5/7 | chr16 | TogoVar | ||||||
C16orf90_chr16_3488484_3500489 | 3499238 | CGGAGGCT others(19): Show |
C | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 446 | 0.0022 | -26 | c.-38 others(37): Show |
C16orf90 | ENSG00000215131.11 | transcript | ENST00000437192.8 | protein_coding | 3750 | chr16 | TogoVar | ||||||
C17orf58_chr17_67986099_68001469 | 68000846 | TTATATAT others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(111): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0002a0001c0006t0002a0002c0002t0001others(5): Show | a0001c0001t0002g0007a0001c0001t0002g0025a0001c0006t0002g0041others(31): Show | 114 | 412 | 0.2767 | -26 | c.-46 others(37): Show |
C17orf58 | ENSG00000186665.10 | transcript | ENST00000580729.3 | protein_coding | 4378 | chr17 | TogoVar | ||||||
C17orf58_chr17_67986099_68001469 | 68000875 | TATATATA others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0159 | 1 | 412 | 0.0024 | -26 | c.-47 others(37): Show |
C17orf58 | ENSG00000186665.10 | transcript | ENST00000580729.3 | protein_coding | 4407 | chr17 | TogoVar | ||||||
C19orf53_chr19_13769456_13783773 | 13773621 | CCCATCTC others(19): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077 | 1 | 434 | 0.0023 | -26 | c.-85 others(35): Show |
C19orf53 | ENSG00000104979.9 | transcript | ENST00000588234.6 | protein_coding | 834 | chr19 | TogoVar | ||||||
C1GALT1_chr7_7177544_7253616 | 7207441 | AGCTGGGA others(19): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0062 | 1 | 392 | 0.0026 | -26 | c.-18 others(45): Show |
C1GALT1 | ENSG00000106392.11 | transcript | ENST00000436587.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C1QTNF1_chr17_79019169_79054788 | 79030457 | TCTTTTCT others(19): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03453.hp1 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0008a0001c0008t0016 | a0001c0004t0008g0081a0001c0008t0016g0080 | 2 | 392 | 0.0051 | -26 | c.-15 others(43): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
C1QTNF1_chr17_79019169_79054788 | 79030458 | CTTTTCTT others(19): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01167.hp1 HG01261.hp1 others(11): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0007others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0063a0001c0001t0001g0064others(8): Show | 14 | 392 | 0.0357 | -26 | c.-15 others(43): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
C1QTNF4_chr11_47584667_47599411 | 47590762 | GGGCCCAG others(19): Show |
G | frameshift_variant | HIGH | HG00423.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0031 | 1 | 408 | 0.0025 | -26 | c.23_ others(31): Show |
p.Leu others(3): Show |
C1QTNF4 | ENSG00000172247.4 | transcript | ENST00000302514.4 | protein_coding | 2/2 | 317/1413 | 23/990 | 8/329 | chr11 | TogoVar | ||
C1orf100_chr1_244347635_244394663 | 244360537 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02615.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0122a0001c0001t0002g0120a0001c0001t0002g0123others(3): Show | 6 | 452 | 0.0133 | -26 | c.-13 others(43): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184385006 | TACACACA others(19): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0051 | a0001c0001t0001g0005a0001c0001t0051g0006 | 2 | 232 | 0.0086 | -26 | c.-24 others(37): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 2022 | chr1 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184386768 | TACACACA others(19): Show |
T | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 232 | 0.0086 | -26 | c.-72 others(35): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 260 | chr1 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184607680 | TACATATA others(19): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0057 | 1 | 232 | 0.0043 | -26 | c.327 others(43): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf21_chr1_184382029_184634019 | 184630308 | TCACACAC others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(92): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0004a0001c0001t0001g0063a0001c0001t0001g0092others(92): Show | 95 | 232 | 0.4095 | -26 | c.*10 others(39): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 1290 | chr1 | TogoVar | ||||||
C1orf43_chr1_154201720_154225590 | 154203172 | AATATATA others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02683.hp2 HG03130.hp1 HG03139.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(8): Show | 15 | 374 | 0.0401 | -26 | c.*42 others(37): Show |
C1orf43 | ENSG00000143612.21 | transcript | ENST00000368521.10 | protein_coding | 3547 | chr1 | TogoVar |