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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL2L10_chr15_52104263_52117775 | 52117103 | T | TATATATA others(42): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 458 | 0.0022 | 49 | c.-43 others(60): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4329 | chr15 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71551893 | A | AGGCGGGG others(42): Show |
intron_variant | MODIFIER | HG00642.hp1 homoSapiens_chm13v2.hp1 |
a0011 | a0011c0011 | a0011c0011t0001a0011c0011t0014 | a0011c0011t0001g0173a0011c0011t0014g0147 | 2 | 325 | 0.0062 | 49 | c.699 others(68): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 34/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BET1L_chr11_197924_212399 | 209428 | T | TCCCCCTC others(42): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0030 | 1 | 402 | 0.0025 | 49 | c.-21 others(60): Show |
BET1L | ENSG00000177951.18 | transcript | ENST00000382762.8 | protein_coding | 2030 | chr11 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133414717 | A | ATCCCCTC others(42): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 276 | 0.0036 | 49 | c.489 others(68): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461144 | T | TCTCCTCC others(42): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0026 | a0005c0026t0001 | a0005c0026t0001g0188 | 1 | 274 | 0.0037 | 49 | c.475 others(68): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BLZF1_chr1_169363195_169393305 | 169391683 | T | TCTAAGGA others(42): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 366 | 0.0027 | 49 | c.*45 others(60): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 3379 | chr1 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202534994 | G | GCCACCTC others(42): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(134): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(134): Show | 137 | 224 | 0.6116 | 49 | c.127 others(68): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202535007 | C | CGGACGGG others(42): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0032 | 1 | 224 | 0.0045 | 49 | c.127 others(68): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113260667 | T | TAGAACAG others(42): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0009 | a0001c0009t0027 | a0001c0009t0027g0250 | 1 | 386 | 0.0026 | 49 | c.377 others(66): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113260667 | T | TAGAACAG others(42): Show |
intron_variant | MODIFIER | HG02809.hp2 NA20752.hp1 |
a0001a0002 | a0001c0009a0002c0004 | a0001c0009t0001a0002c0004t0029 | a0001c0009t0001g0244a0002c0004t0029g0374 | 2 | 386 | 0.0052 | 49 | c.377 others(66): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOK_chr2_241553745_241579131 | 241571306 | C | CAGTTGCC others(42): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075a0001c0001t0004g0098 | 2 | 434 | 0.0046 | 49 | c.514 others(64): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
BORCS6_chr17_8183345_8195180 | 8191842 | G | GGAGTCCA others(42): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | 49 | c.-17 others(60): Show |
BORCS6 | ENSG00000196544.8 | transcript | ENST00000389017.6 | protein_coding | 1663 | chr17 | TogoVar | ||||||
BPIFB4_chr20_33074643_33116751 | 33115816 | T | TGCCCCGT others(42): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0034 | 1 | 344 | 0.0029 | 49 | c.*43 others(60): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 4066 | chr20 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424684 | T | TTCTCCTC others(42): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0163 | 1 | 422 | 0.0024 | 49 | c.121 others(68): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67917131 | C | CTTTTTTT others(42): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0246 | 1 | 274 | 0.0037 | 49 | c.530 others(68): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BRAT1_chr7_2532810_2560524 | 2534088 | A | ACCTCCCG others(42): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 HG03209.hp1 |
a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0110a0001c0015t0001g0111 | 2 | 424 | 0.0047 | 49 | c.*39 others(60): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3721 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2534088 | A | ACCTCCCG others(42): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01069.hp2 others(19): Show |
a0003a0020 | a0003c0005a0003c0020a0020c0019 | a0003c0005t0002a0003c0020t0002a0020c0019t0002 | a0003c0005t0002g0007a0003c0005t0002g0038a0003c0005t0002g0039others(18): Show | 22 | 424 | 0.0519 | 49 | c.*39 others(60): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3721 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2534388 | A | ACCTCCCG others(42): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 HG03209.hp1 |
a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0110a0001c0015t0001g0111 | 2 | 424 | 0.0047 | 49 | c.*36 others(60): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3421 | chr7 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35824605 | A | AGAAGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 374 | 0.0027 | 49 | c.-19 others(60): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1732 | chr14 | TogoVar | ||||||
BROX_chr1_222707564_222740187 | 222737207 | A | ACTTAAAG others(42): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 386 | 0.0026 | 49 | c.*44 others(60): Show |
BROX | ENSG00000162819.12 | transcript | ENST00000340934.10 | protein_coding | 2021 | chr1 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430116 | C | CGGTCTGG others(42): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG02165.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0200a0001c0001t0003g0201a0001c0001t0004g0051others(3): Show | 6 | 360 | 0.0167 | 49 | c.92- others(64): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1430190 | T | TCAGCAGT others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0004 | 2 | 360 | 0.0056 | 49 | c.92- others(64): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1430257 | C | CGGTCTGG others(42): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 360 | 0.0028 | 49 | c.92- others(64): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1430519 | C | CCAGCAGT others(42): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG01515.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0003a0001c0001t0004a0002c0002t0005others(3): Show | a0001c0001t0003g0200a0001c0001t0003g0201a0001c0001t0004g0051others(5): Show | 8 | 360 | 0.0222 | 49 | c.92- others(64): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1430756 | T | TCAGCAGT others(42): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02129.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(2): Show | a0001c0001t0001g0168a0001c0001t0004g0121a0001c0001t0025g0143others(2): Show | 5 | 360 | 0.0139 | 49 | c.92- others(64): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BSG_chr19_567596_588493 | 570773 | G | GGGGGTGG others(42): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 306 | 0.0033 | 49 | c.-18 others(60): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1822 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 585444 | A | AGGGGTGC others(42): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0022 | 1 | 306 | 0.0033 | 49 | c.*27 others(60): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1952 | chr19 | TogoVar | ||||||
BSX_chr11_122972570_122986834 | 122983523 | G | GAAAGAAA others(42): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 422 | 0.0024 | 49 | c.-18 others(60): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 1690 | chr11 | TogoVar | ||||||
C12orf54_chr12_48477498_48501524 | 48500574 | A | ACCTCCCG others(42): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(118): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009others(28): Show | 121 | 436 | 0.2775 | 49 | c.*44 others(60): Show |
C12orf54 | ENSG00000177627.11 | transcript | ENST00000548364.7 | protein_coding | 4051 | chr12 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37390304 | T | TTTTATAT others(42): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 441 | 0.0023 | 49 | c.750 others(64): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
C22orf23_chr22_37938050_37958601 | 37943424 | A | ATAGGGGA others(42): Show |
3_prime_UTR_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0045 | 1 | 374 | 0.0027 | 49 | c.*75 others(58): Show |
C22orf23 | ENSG00000128346.11 | transcript | ENST00000403305.6 | protein_coding | 7/7 | 750 | chr22 | TogoVar | |||||
C22orf42_chr22_32144006_32164303 | 32145659 | T | TTATTATA others(42): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0035 | 1 | 398 | 0.0025 | 49 | c.*38 others(60): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3346 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(42): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0009 | 1 | 398 | 0.0025 | 49 | c.*16 others(60): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74066264 | A | AGGAGGGG others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(293): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0030a0002c0003others(42): Show | a0001c0001t0001a0001c0030t0001a0002c0003t0001others(44): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0029others(292): Show | 296 | 318 | 0.9308 | 49 | c.495 others(68): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 24/32 | chr11 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 410883 | G | GTCTGTCC others(42): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0011 | 1 | 322 | 0.0031 | 49 | c.-19 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1737 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 410967 | C | CGCCCCTG others(42): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 NA18960.hp1 NA18997.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0037 | a0001c0002t0002g0003a0001c0002t0037g0059 | 3 | 322 | 0.0093 | 49 | c.-20 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1821 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 410971 | C | CCTGCTGG others(42): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0093 | 1 | 322 | 0.0031 | 49 | c.-20 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1825 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411004 | C | CGCCCCTG others(42): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 NA18943.hp1 NA18957.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 3 | 322 | 0.0093 | 49 | c.-20 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1858 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411078 | C | CGCCCCTG others(42): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0117 | a0001c0001t0117g0165 | 1 | 322 | 0.0031 | 49 | c.-21 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1932 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411091 | C | CCCGAGCT others(42): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0010 | 1 | 322 | 0.0031 | 49 | c.-21 others(60): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1945 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6689374 | T | TCTCTGTC others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0066 | 1 | 370 | 0.0027 | 49 | c.348 others(68): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6689374 | T | TCTGTCTC others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0344 | 1 | 370 | 0.0027 | 49 | c.348 others(68): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6689374 | T | TGTCTCTC others(42): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0357 | 1 | 370 | 0.0027 | 49 | c.348 others(68): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | ||||||
C4BPB_chr1_207083860_207104993 | 207098959 | A | ATCTCATC others(42): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 388 | 0.0026 | 49 | c.619 others(64): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1016503 | G | GCACACGC others(42): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0099a0001c0001t0003g0205a0001c0001t0003g0239others(3): Show | 6 | 326 | 0.0184 | 49 | c.130 others(66): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1038661 | G | GGGTCAGC others(42): Show |
intron_variant | MODIFIER | HG02965.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279a0001c0001t0002g0299 | 2 | 326 | 0.0061 | 49 | c.130 others(68): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1038661 | G | GGGTCAGC others(42): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0099a0001c0001t0002g0208a0001c0001t0002g0209others(106): Show | 109 | 326 | 0.3344 | 49 | c.130 others(68): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1038661 | G | GGGTCAGC others(42): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0305 | 1 | 326 | 0.0031 | 49 | c.130 others(68): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1090533 | T | TGGGACCC others(42): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 326 | 0.0031 | 49 | c.129 others(68): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133460465 | G | GGGGGGCG others(42): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 420 | 0.0024 | 49 | c.121 others(64): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |