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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79309217 | A | AGGAGTGA others(101): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0265 | 1 | 298 | 0.0034 | 108 | c.177 others(127): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79309250 | C | CTGAGTAG others(101): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 298 | 0.0034 | 108 | c.177 others(127): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79309251 | G | GGAGGAGT others(101): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02809.hp2 |
a0002a0007 | a0002c0005a0007c0031 | a0002c0005t0002a0007c0031t0002 | a0002c0005t0002g0208a0007c0031t0002g0251 | 2 | 298 | 0.0067 | 108 | c.177 others(127): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79309359 | T | TGAGGAGT others(101): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18747.hp2 NA18942.hp1 others(3): Show |
a0002a0011 | a0002c0002a0011c0035 | a0002c0002t0002a0011c0035t0002 | a0002c0002t0002g0180a0002c0002t0002g0189a0002c0002t0002g0229others(3): Show | 6 | 298 | 0.0201 | 108 | c.177 others(127): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79309469 | A | AGGAGTGA others(101): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0219 | 1 | 298 | 0.0034 | 108 | c.177 others(127): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79309541 | T | TGGAGTGA others(101): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0002a0005 | a0002c0032a0005c0009 | a0002c0032t0005a0005c0009t0005 | a0002c0032t0005g0195a0005c0009t0005g0165a0005c0009t0005g0166others(3): Show | 6 | 298 | 0.0201 | 108 | c.177 others(127): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79327602 | G | GTGGTTAG others(101): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0266 | 1 | 298 | 0.0034 | 108 | c.177 others(127): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79327775 | G | GTGCTCTC others(101): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0296 | 1 | 298 | 0.0034 | 108 | c.177 others(127): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115776593 | G | GTAATATT others(101): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 |
a0001 | a0001c0007a0001c0015 | a0001c0007t0030a0001c0015t0034 | a0001c0007t0030g0008a0001c0015t0034g0110 | 2 | 128 | 0.0156 | 108 | c.390 others(129): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATR_chr3_142444235_142583733 | 142496322 | A | ATATATAT others(101): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03471.hp2 |
a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0151a0004c0009t0001g0152 | 2 | 322 | 0.0062 | 108 | c.589 others(123): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82962526 | C | CGGGTGCT others(101): Show |
intron_variant | MODIFIER | HG02559.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0017a0001c0011t0017 | a0001c0001t0017g0177a0001c0011t0017g0145 | 2 | 266 | 0.0075 | 108 | c.556 others(125): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 7/12 | chr17 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 372613 | T | TCCTCCCT others(101): Show |
disruptive_inframe_insertion | MODERATE | NA19057.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0132 | 1 | 184 | 0.0054 | 108 | c.293 others(115): Show |
p.Gly others(119): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 3/20 | 599/3750 | 294/3120 | 98/1039 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
BAIAP3_chr16_1328645_1354439 | 1345592 | C | CGCAACCC others(101): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02451.hp2 others(5): Show |
a0001a0015 | a0001c0001a0001c0005a0015c0022 | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(1): Show | a0001c0001t0001g0112a0001c0001t0001g0160a0001c0005t0001g0028others(3): Show | 8 | 358 | 0.0224 | 108 | c.206 others(125): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BAIAP3_chr16_1328645_1354439 | 1345592 | C | CGCAACCC others(101): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(102): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0171a0001c0001t0002g0002a0001c0001t0002g0011others(57): Show | 105 | 358 | 0.2933 | 108 | c.206 others(125): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BAIAP3_chr16_1328645_1354439 | 1345592 | C | CGCAACCC others(101): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0086 | 1 | 358 | 0.0028 | 108 | c.206 others(125): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61045988 | T | TAATATAT others(101): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0073 | 1 | 74 | 0.0135 | 108 | c.202 others(127): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | chr17 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467675 | A | ATGGTACT others(101): Show |
intron_variant | MODIFIER | HG01123.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0094a0001c0001t0003g0173 | 2 | 262 | 0.0076 | 108 | c.487 others(125): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63198333 | C | CACACACA others(101): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0087 | 1 | 264 | 0.0038 | 108 | c.586 others(127): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197517772 | A | ACCCCCGC others(101): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0153 | 1 | 319 | 0.0031 | 108 | c.410 others(125): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197517942 | A | ATCAGTCA others(101): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02071.hp1 HG02074.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0073a0001c0001t0002g0122a0001c0001t0002g0163others(14): Show | 17 | 319 | 0.0533 | 108 | c.410 others(125): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197518424 | T | TCCCCGAT others(101): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02055.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0008a0001c0001t0125a0001c0001t0130others(6): Show | a0001c0001t0008g0046a0001c0001t0125g0048a0001c0001t0130g0047others(7): Show | 10 | 319 | 0.0314 | 108 | c.410 others(125): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
BDKRB2_chr14_96199839_96249164 | 96216768 | A | AGGAGGAG others(101): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0216 | 1 | 436 | 0.0023 | 108 | c.-40 others(127): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474614 | G | GAGAGAGG others(101): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 298 | 0.0034 | 108 | c.290 others(125): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BFSP2_chr3_133395056_133480208 | 133425943 | A | AGGCTAGG others(101): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0162others(4): Show | 7 | 276 | 0.0254 | 108 | c.490 others(127): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BIRC7_chr20_63230905_63245495 | 63234245 | A | ACGCTGGA others(101): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01109.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0004a0001c0004t0001g0008 | 2 | 300 | 0.0067 | 108 | c.-18 others(119): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1659 | chr20 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63234245 | A | ACGCTGGA others(101): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 300 | 0.0033 | 108 | c.-18 others(119): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1659 | chr20 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63234245 | A | ACGCTGGA others(101): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG02280.hp1 HG02622.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0001others(1): Show | a0001c0001t0001g0011a0001c0002t0001g0047a0001c0012t0001g0017others(3): Show | 7 | 300 | 0.0233 | 108 | c.-18 others(119): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1659 | chr20 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63234245 | A | ACGCTGGA others(101): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 NA21309.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 2 | 300 | 0.0067 | 108 | c.-18 others(119): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1659 | chr20 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63234319 | A | ACTGGAGG others(101): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01516.hp2 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0004 | 7 | 300 | 0.0233 | 108 | c.-17 others(119): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1585 | chr20 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113236266 | G | GTGTATAT others(101): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031 | 1 | 386 | 0.0026 | 108 | c.-81 others(127): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236284 | A | ATATATAT others(101): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 386 | 0.0026 | 108 | c.-81 others(127): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236288 | A | ATATATAT others(101): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 386 | 0.0026 | 108 | c.-81 others(127): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236288 | A | ATATATAT others(101): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 386 | 0.0026 | 108 | c.-81 others(127): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236290 | A | ATATATAT others(101): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 386 | 0.0026 | 108 | c.-81 others(127): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BPI_chr20_38299156_38342505 | 38321028 | G | GGTGGGTG others(101): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(420): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0055a0002c0002others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0013a0001c0001t0001g0037a0001c0001t0001g0176others(347): Show | 423 | 426 | 0.9930 | 108 | c.756 others(123): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPI_chr20_38299156_38342505 | 38321028 | G | GGTGGGTG others(101): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0171 | 1 | 426 | 0.0024 | 108 | c.756 others(123): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1396175 | G | GCTCCTGG others(101): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0053a0002c0002t0002g0031 | 2 | 360 | 0.0056 | 108 | c.91+ others(123): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1396185 | T | TCTCTTCC others(101): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 360 | 0.0028 | 108 | c.91+ others(123): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1396185 | T | TCTCTTCC others(101): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01515.hp2 HG01517.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0150a0001c0001t0003g0196others(11): Show | 14 | 360 | 0.0389 | 108 | c.91+ others(123): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1396185 | T | TCTCTTCC others(101): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0049 | 2 | 360 | 0.0056 | 108 | c.91+ others(123): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1396221 | C | CCTCTTCC others(101): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02165.hp1 NA18969.hp2 others(5): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0001c0004t0004a0002c0002t0002others(2): Show | a0001c0004t0001g0091a0001c0004t0001g0093a0001c0004t0001g0094others(5): Show | 8 | 360 | 0.0222 | 108 | c.91+ others(123): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1396221 | C | CCTCTTCC others(101): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199a0001c0001t0003g0235a0001c0001t0003g0236 | 3 | 360 | 0.0083 | 108 | c.91+ others(123): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1396235 | C | CCCACGTC others(101): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0038 | a0002c0002t0038g0297 | 1 | 360 | 0.0028 | 108 | c.91+ others(123): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1412229 | C | CAGCTGCG others(101): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0132 | 1 | 360 | 0.0028 | 108 | c.91+ others(125): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BSG_chr19_567596_588493 | 570591 | A | AGGGGCGG others(101): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 306 | 0.0033 | 108 | c.-20 others(119): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2004 | chr19 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44816446 | G | GTGAGTAT others(101): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 1 | 436 | 0.0023 | 108 | c.*26 others(119): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 862 | chr1 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38374285 | A | ATATATAT others(101): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0156 | a0001c0001t0156g0172 | 1 | 224 | 0.0045 | 108 | c.115 others(129): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38374305 | A | ATATATAT others(101): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0192 | 1 | 224 | 0.0045 | 108 | c.115 others(129): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTN1A1_chr6_26495303_26515425 | 26514199 | T | TTATATAT others(101): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007a0001c0001t0003g0008a0001c0001t0003g0044 | 6 | 414 | 0.0145 | 108 | c.*50 others(119): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 3775 | chr6 | TogoVar | ||||||
BTN1A1_chr6_26495303_26515425 | 26514199 | T | TTATATAT others(101): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0007 | 1 | 414 | 0.0024 | 108 | c.*50 others(119): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 3775 | chr6 | TogoVar |