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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AVEN_chr15_33861227_34044204 | 33932834 | C | CAAATAAA others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(97): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0028others(97): Show | 100 | 266 | 0.3759 | 12 | c.446 others(31): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33932838 | C | CAAATAAA others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0197 | 1 | 266 | 0.0038 | 12 | c.446 others(31): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33933491 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG03471.hp2 HG04228.hp1 NA20300.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0195a0003c0003t0003g0002a0003c0003t0003g0004others(1): Show | 4 | 266 | 0.0150 | 12 | c.446 others(31): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | NA18977.hp1 NA19011.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219a0002c0002t0001g0257 | 2 | 266 | 0.0075 | 12 | c.446 others(31): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 | 1 | 266 | 0.0038 | 12 | c.446 others(31): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34025760 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01106.hp2 others(12): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0003a0005c0007t0003 | a0003c0003t0003g0001a0003c0003t0003g0002a0003c0003t0003g0003others(12): Show | 15 | 266 | 0.0564 | 12 | c.267 others(31): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34038912 | C | CCCGCCGC others(5): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp2 HG02572.hp2 HG02622.hp2 others(5): Show |
a0004a0007a0011 | a0004c0004a0007c0005a0011c0008 | a0004c0004t0001a0007c0005t0007a0011c0008t0001 | a0004c0004t0001g0016a0004c0004t0001g0018a0004c0004t0001g0019others(5): Show | 8 | 266 | 0.0301 | 12 | c.123 others(19): Show |
p.Gly others(11): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/6 | 292/1633 | 134/1089 | 45/362 | chr15 | TogoVar | ||
AVIL_chr12_57792380_57823734 | 57818182 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0077 | 2 | 372 | 0.0054 | 12 | c.-20 others(27): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32495327 | C | CCCTCCCC others(5): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01192.hp2 others(15): Show |
a0001 | a0001c0002a0001c0004a0001c0007others(1): Show | a0001c0002t0005a0001c0002t0026a0001c0004t0021others(12): Show | a0001c0002t0005g0142a0001c0002t0026g0058a0001c0004t0021g0157others(15): Show | 18 | 330 | 0.0546 | 12 | c.-38 others(21): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 161 | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32495328 | C | CCTCCCCC others(5): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0003 | a0002c0003t0083 | a0002c0003t0083g0137 | 1 | 330 | 0.0030 | 12 | c.-38 others(21): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 160 | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32503319 | G | GATATATA others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp2 |
a0001 | a0001c0004 | a0001c0004t0021a0001c0004t0091 | a0001c0004t0021g0157a0001c0004t0091g0114 | 2 | 330 | 0.0061 | 12 | c.93+ others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32503367 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01517.hp2 HG01952.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0009a0001c0001t0024a0003c0005t0062others(1): Show | a0001c0001t0009g0266a0001c0001t0024g0288a0003c0005t0062g0322others(1): Show | 4 | 330 | 0.0121 | 12 | c.93+ others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32503371 | T | TAGATATA others(5): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0316 | 1 | 330 | 0.0030 | 12 | c.93+ others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32546069 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02486.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0078a0001c0007t0016a0001c0008t0117others(1): Show | a0001c0001t0078g0241a0001c0007t0016g0055a0001c0007t0016g0056others(5): Show | 8 | 330 | 0.0242 | 12 | c.300 others(29): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32546083 | T | TTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0008 | a0001c0008t0120 | a0001c0008t0120g0054 | 1 | 330 | 0.0030 | 12 | c.300 others(29): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32551605 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01258.hp2 HG01358.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0024a0001c0001t0028a0001c0001t0036others(6): Show | a0001c0001t0024g0288a0001c0001t0028g0111a0001c0001t0028g0267others(11): Show | 14 | 330 | 0.0424 | 12 | c.462 others(27): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32556519 | A | AAATAAAT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(168): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(89): Show | a0001c0001t0001g0048a0001c0001t0001g0192a0001c0001t0001g0200others(168): Show | 171 | 330 | 0.5182 | 12 | c.609 others(29): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32556519 | A | AAATGAAT others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03195.hp2 HG03225.hp1 |
a0001 | a0001c0009 | a0001c0009t0037a0001c0009t0068 | a0001c0009t0037g0312a0001c0009t0037g0313a0001c0009t0068g0314 | 3 | 330 | 0.0091 | 12 | c.609 others(29): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32572801 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01258.hp1 HG03139.hp1 HG03195.hp1 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0021a0001c0004t0088a0001c0008t0120 | a0001c0004t0021g0160a0001c0004t0088g0156a0001c0008t0120g0054 | 3 | 330 | 0.0091 | 12 | c.135 others(29): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579419 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01433.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0028 | a0001c0001t0024g0284a0001c0001t0024g0287a0001c0001t0024g0288others(3): Show | 6 | 330 | 0.0182 | 12 | c.168 others(29): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPI1_chr10_97672424_97692241 | 97678880 | G | GGGGTGTG others(5): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 | 1 | 446 | 0.0022 | 12 | c.287 others(27): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18947.hp1 NA19080.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0282a0002c0002t0002g0080a0002c0002t0002g0099 | 3 | 446 | 0.0067 | 12 | c.287 others(27): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97686868 | T | TCTGGGCT others(5): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(441): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(326): Show | 444 | 446 | 0.9955 | 12 | c.-11 others(21): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1/3 | 6964 | chr10 | TogoVar | |||||
AVPR1A_chr12_63137759_63156201 | 63138022 | T | TCTCCCTC others(5): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0013 | a0001c0013t0057 | a0001c0013t0057g0142 | 1 | 448 | 0.0022 | 12 | c.*93 others(23): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4736 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63138022 | T | TCTCCCTC others(5): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02818.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0047a0001c0002t0012 | a0001c0001t0008g0069a0001c0001t0047g0100a0001c0002t0012g0018 | 5 | 448 | 0.0112 | 12 | c.*93 others(23): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4736 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63138059 | C | CTCCCTCC others(5): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 448 | 0.0022 | 12 | c.*92 others(23): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4699 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63138059 | C | CTCCCTCC others(5): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 HG03579.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0001a0001c0002t0012 | a0001c0001t0024g0051a0001c0002t0001g0001a0001c0002t0012g0018 | 4 | 448 | 0.0089 | 12 | c.*92 others(23): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4699 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63153316 | G | GTCTATCT others(5): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01099.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0016others(17): Show | 47 | 448 | 0.1049 | 12 | c.-24 others(23): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2116 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63153316 | G | GTCTGTCT others(5): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 NA18747.hp2 NA19055.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0010a0003c0004t0001g0131 | 3 | 448 | 0.0067 | 12 | c.-24 others(23): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2116 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63153334 | C | CTATCTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG04115.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0052a0002c0003t0009 | a0001c0001t0005g0089a0001c0001t0052g0088a0002c0003t0009g0040 | 4 | 448 | 0.0089 | 12 | c.-24 others(23): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2134 | chr12 | TogoVar | ||||||
AVPR1B_chr1_206101936_206122388 | 206113309 | G | GCGGGGAC others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0017a0001c0004t0025a0001c0004t0050 | a0001c0004t0017g0019a0001c0004t0025g0041a0001c0004t0050g0094 | 7 | 396 | 0.0177 | 12 | c.940 others(29): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
AVP_chr20_3077556_3089724 | 3088824 | C | CTTTGTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02809.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(3): Show | 12 | 468 | 0.0256 | 12 | c.-41 others(23): Show |
AVP | ENSG00000101200.5 | transcript | ENST00000380293.3 | protein_coding | 4101 | chr20 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179414411 | C | CTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(77): Show |
a0001a0002a0012others(2): Show | a0001c0002a0001c0006a0001c0007others(7): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(7): Show | a0001c0002t0001g0081a0001c0002t0001g0083a0001c0002t0001g0084others(77): Show | 80 | 356 | 0.2247 | 12 | c.123 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179414435 | A | ATTTATTT others(5): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03540.hp1 |
a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0185a0002c0023t0001g0186 | 2 | 356 | 0.0056 | 12 | c.123 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179417985 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01433.hp2 HG01496.hp1 others(9): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0298a0004c0005t0001g0299a0004c0005t0001g0300others(9): Show | 12 | 356 | 0.0337 | 12 | c.123 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179421035 | C | CCCTTCCT others(5): Show |
intron_variant | MODIFIER | HG01074.hp1 HG04199.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0222a0002c0001t0001g0255 | 2 | 356 | 0.0056 | 12 | c.123 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179438171 | A | AATAAAGA others(5): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03540.hp1 |
a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0185a0002c0023t0001g0186 | 2 | 356 | 0.0056 | 12 | c.156 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179438171 | A | AATAAATA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show |
a0001a0002a0004others(10): Show | a0001c0002a0001c0003a0001c0006others(19): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(19): Show | a0001c0002t0001g0081a0001c0002t0001g0082a0001c0002t0001g0083others(233): Show | 236 | 356 | 0.6629 | 12 | c.156 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179488634 | C | CCTTTCTT others(5): Show |
intron_variant | MODIFIER | HG01168.hp1 NA19077.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0050a0001c0003t0001g0076 | 2 | 356 | 0.0056 | 12 | c.209 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179488634 | C | CTTTTCTT others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01891.hp1 NA18971.hp2 others(1): Show |
a0003a0010 | a0003c0004a0010c0017 | a0003c0004t0001a0010c0017t0001 | a0003c0004t0001g0034a0003c0004t0001g0311a0003c0004t0001g0317others(1): Show | 4 | 356 | 0.0112 | 12 | c.209 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179511393 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0085 | 1 | 356 | 0.0028 | 12 | c.249 others(31): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179532898 | G | GAATAAAT others(5): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0300 | 1 | 356 | 0.0028 | 12 | c.271 others(29): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXIN1_chr16_282440_357723 | 285790 | C | CCCCCTGC others(5): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 NA19240.hp2 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0013a0001c0017t0048 | a0001c0003t0013g0076a0001c0017t0048g0225 | 2 | 378 | 0.0053 | 12 | c.*23 others(23): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1649 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285909 | C | CCCAACCC others(5): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0214 | 1 | 378 | 0.0027 | 12 | c.*22 others(23): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1530 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285925 | T | TCCCAACC others(5): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0013 | a0001c0003t0003g0214a0001c0003t0013g0076 | 2 | 378 | 0.0053 | 12 | c.*21 others(23): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1514 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285983 | T | TCCCAACC others(5): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02280.hp1 others(4): Show |
a0002 | a0002c0006a0002c0026 | a0002c0006t0001a0002c0006t0025a0002c0026t0025 | a0002c0006t0001g0226a0002c0006t0001g0227a0002c0006t0001g0229others(4): Show | 7 | 378 | 0.0185 | 12 | c.*21 others(23): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1456 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 286220 | G | GCCCCCCA others(5): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0061 | 1 | 378 | 0.0027 | 12 | c.*19 others(23): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1219 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 286220 | G | GCCCCCCC others(5): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03209.hp2 HG03490.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0023others(1): Show | a0001c0001t0001a0001c0003t0027a0004c0023t0035others(1): Show | a0001c0001t0001g0356a0001c0003t0027g0360a0004c0023t0035g0067others(1): Show | 4 | 378 | 0.0106 | 12 | c.*19 others(23): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1219 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 320743 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0022 | a0001c0003t0012g0204a0001c0003t0012g0205a0001c0003t0012g0213others(3): Show | 6 | 378 | 0.0159 | 12 | c.879 others(29): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 320743 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0216 | 1 | 378 | 0.0027 | 12 | c.879 others(29): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar |