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 | 33968099 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0047a0001c0001t0001g0074a0001c0001t0001g0087others(12): Show | 15 | 266 | 0.0564 | 8 | c.445 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33983160 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0135a0001c0001t0001g0176 | 3 | 266 | 0.0113 | 8 | c.445 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33983170 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(43): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0085a0001c0001t0001g0110a0001c0001t0001g0151others(43): Show | 46 | 266 | 0.1729 | 8 | c.445 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34032023 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0032others(73): Show | 76 | 266 | 0.2857 | 8 | c.267 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
AVIL_chr12_57792380_57823734 | 57818182 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0035others(7): Show | 19 | 372 | 0.0511 | 8 | c.-20 others(23): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32502406 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0024a0001c0001t0028others(2): Show | a0001c0001t0010g0268a0001c0001t0010g0289a0001c0001t0024g0284others(7): Show | 10 | 330 | 0.0303 | 8 | c.93+ others(23): 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(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01258.hp2 HG01884.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0028a0001c0001t0036a0003c0005t0023others(1): Show | a0001c0001t0028g0267a0001c0001t0036g0285a0001c0001t0036g0286others(2): Show | 5 | 330 | 0.0152 | 8 | c.93+ others(23): 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(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01515.hp1 HG01517.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(15): Show | a0001c0001t0001g0200a0001c0001t0004g0013a0001c0001t0004g0038others(19): Show | 22 | 330 | 0.0667 | 8 | c.300 others(25): 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(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(66): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0012a0001c0001t0001g0048a0001c0001t0001g0176others(66): Show | 69 | 330 | 0.2091 | 8 | c.300 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32556519 | A | AAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02897.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0003a0001c0001t0034a0001c0001t0121others(5): Show | a0001c0001t0003g0021a0001c0001t0034g0275a0001c0001t0121g0187others(5): Show | 8 | 330 | 0.0242 | 8 | c.609 others(25): 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(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(7): Show |
a0001a0003 | a0001c0008a0003c0005 | a0001c0008t0117a0001c0008t0118a0001c0008t0119others(6): Show | a0001c0008t0117g0052a0001c0008t0118g0053a0001c0008t0119g0311others(7): Show | 10 | 330 | 0.0303 | 8 | c.609 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579411 | A | ATGTTATA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01256.hp2 HG01258.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0021a0001c0004t0031a0001c0004t0040others(3): Show | a0001c0004t0021g0160a0001c0004t0021g0162a0001c0004t0031g0168others(4): Show | 7 | 330 | 0.0212 | 8 | c.168 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579446 | A | ATATTATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01081.hp1 others(24): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0021a0001c0004t0031a0001c0004t0087others(8): Show | a0001c0004t0021g0157a0001c0004t0021g0325a0001c0004t0031g0153others(24): Show | 27 | 330 | 0.0818 | 8 | c.168 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32579557 | T | TATTATAT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01517.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0028 | a0001c0001t0024g0284a0001c0001t0024g0287a0001c0001t0024g0288others(2): Show | 5 | 330 | 0.0152 | 8 | c.168 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02148.hp1 HG02451.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0200a0001c0001t0001g0206a0001c0001t0001g0309others(3): Show | 6 | 446 | 0.0135 | 8 | c.287 others(23): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63138014 | C | CCTCCCTC others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0055 | a0001c0001t0008g0043a0001c0001t0008g0073a0001c0001t0055g0097 | 3 | 448 | 0.0067 | 8 | c.*93 others(19): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4744 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63138059 | C | CTCCCTCC others(1): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 NA18969.hp2 NA18995.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0038 | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0038g0121 | 5 | 448 | 0.0112 | 8 | c.*92 others(19): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 4699 | chr12 | TogoVar | ||||||
AVPR1A_chr12_63137759_63156201 | 63153316 | G | GTCTATCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(96): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0016others(35): Show | 99 | 448 | 0.2210 | 8 | c.-24 others(19): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 2116 | chr12 | TogoVar | ||||||
AVPR1B_chr1_206101936_206122388 | 206118721 | A | AAAACAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG01361.hp1 HG01943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0033a0001c0001t0002g0002 | 4 | 396 | 0.0101 | 8 | c.-18 others(19): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 1334 | chr1 | TogoVar | ||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 NA18945.hp1 NA18962.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0005a0003c0009t0082 | a0001c0001t0001g0001a0001c0001t0005g0003a0003c0009t0082g0117 | 4 | 396 | 0.0101 | 8 | c.-51 others(19): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | ||||||
AWAT2_chrX_70035542_70054938 | 70050573 | A | AGCCCTCC others(1): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 338 | 0.0030 | 8 | c.-64 others(17): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 636 | chrX | TogoVar | ||||||
AWAT2_chrX_70035542_70054938 | 70050580 | G | GCCCCCAC others(1): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 338 | 0.0030 | 8 | c.-64 others(17): Show |
AWAT2 | ENSG00000147160.9 | transcript | ENST00000276101.7 | protein_coding | 643 | chrX | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179414411 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(116): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0006a0001c0007others(9): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(9): Show | a0001c0002t0001g0152a0001c0002t0001g0206a0001c0002t0001g0227others(116): Show | 119 | 356 | 0.3343 | 8 | c.123 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02080.hp1 NA18942.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0054a0001c0003t0001g0071a0001c0003t0001g0072others(1): Show | 4 | 356 | 0.0112 | 8 | c.123 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179460233 | C | CACCCTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(12): Show |
a0003a0008a0009others(1): Show | a0003c0004a0008c0012a0009c0013others(1): Show | a0003c0004t0001a0008c0012t0001a0009c0013t0001others(1): Show | a0003c0004t0001g0173a0003c0004t0001g0177a0003c0004t0001g0179others(12): Show | 15 | 356 | 0.0421 | 8 | c.179 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAAAAAC others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02622.hp2 HG02630.hp1 others(7): Show |
a0001a0003a0020 | a0001c0002a0003c0004a0020c0030 | a0001c0002t0001a0003c0004t0001a0020c0030t0001 | a0001c0002t0001g0140a0001c0002t0001g0160a0001c0002t0001g0161others(7): Show | 10 | 356 | 0.0281 | 8 | c.209 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179488634 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01169.hp1 NA18942.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054a0001c0003t0001g0055a0001c0003t0001g0071 | 3 | 356 | 0.0084 | 8 | c.209 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG01358.hp2 others(5): Show |
a0003a0009 | a0003c0004a0009c0013 | a0003c0004t0001a0009c0013t0001 | a0003c0004t0001g0005a0003c0004t0001g0025a0003c0004t0001g0029others(5): Show | 8 | 356 | 0.0225 | 8 | c.209 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179500337 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01109.hp1 others(8): Show |
a0001a0008 | a0001c0002a0001c0003a0001c0015others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0015t0001others(1): Show | a0001c0002t0001g0140a0001c0002t0001g0159a0001c0003t0001g0062others(8): Show | 11 | 356 | 0.0309 | 8 | c.238 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179511393 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02572.hp2 HG02895.hp2 others(4): Show |
a0001a0010 | a0001c0002a0001c0007a0010c0017 | a0001c0002t0001a0001c0007t0001a0010c0017t0001 | a0001c0002t0001g0089a0001c0002t0001g0143a0001c0007t0001g0183others(4): Show | 7 | 356 | 0.0197 | 8 | c.249 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179525808 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00544.hp2 others(17): Show |
a0001a0015 | a0001c0003a0001c0006a0015c0029 | a0001c0003t0001a0001c0006t0001a0015c0029t0001 | a0001c0003t0001g0071a0001c0003t0001g0210a0001c0003t0001g0211others(17): Show | 20 | 356 | 0.0562 | 8 | c.261 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179532898 | G | GAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02258.hp2 HG02280.hp2 others(1): Show |
a0001a0004a0009 | a0001c0002a0001c0007a0004c0005others(1): Show | a0001c0002t0001a0001c0007t0001a0004c0005t0001others(1): Show | a0001c0002t0001g0227a0001c0007t0001g0175a0004c0005t0001g0304others(1): Show | 4 | 356 | 0.0112 | 8 | c.271 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXIN1_chr16_282440_357723 | 323776 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 NA19030.hp2 |
a0001a0011 | a0001c0003a0001c0007a0011c0015 | a0001c0003t0041a0001c0007t0008a0011c0015t0008 | a0001c0003t0041g0045a0001c0007t0008g0277a0011c0015t0008g0281 | 3 | 378 | 0.0079 | 8 | c.879 others(25): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 351132 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01192.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0002a0001c0003t0011a0003c0008t0007others(2): Show | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0033others(4): Show | 7 | 378 | 0.0185 | 8 | c.-82 others(25): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
AXIN2_chr17_65523563_65566648 | 65564088 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(12): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0001a0001c0004t0003a0001c0005t0001others(3): Show | a0001c0002t0001g0014a0001c0002t0001g0304a0001c0004t0003g0301others(11): Show | 15 | 402 | 0.0373 | 8 | c.-27 others(19): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2441 | chr17 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41256080 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0047a0001c0003t0009 | a0001c0001t0006g0128a0001c0001t0047g0277a0001c0003t0009g0006others(2): Show | 6 | 314 | 0.0191 | 8 | c.203 others(25): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02735.hp2 HG03471.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0029a0001c0002t0029 | a0001c0001t0017g0026a0001c0001t0017g0037a0001c0001t0017g0059others(5): Show | 8 | 314 | 0.0255 | 8 | c.*41 others(17): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AZGP1_chr7_99961730_99981031 | 99968962 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0017others(22): Show | 78 | 432 | 0.1806 | 8 | c.338 others(23): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
AZI2_chr3_28316047_28353824 | 28352126 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG01515.hp1 HG01517.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(9): Show | 12 | 360 | 0.0333 | 8 | c.-35 others(19): Show |
AZI2 | ENSG00000163512.14 | transcript | ENST00000479665.6 | protein_coding | 3303 | chr3 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 829936 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02897.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0078a0001c0003t0001g0021a0001c0003t0001g0054others(3): Show | 8 | 391 | 0.0205 | 8 | c.360 others(23): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GALNT2_chr1_235442190_235509452 | 235498843 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG01069.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0002g0014a0001c0001t0002g0022a0001c0001t0002g0023others(29): Show | 32 | 344 | 0.0930 | 8 | c.113 others(25): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167288538 | G | GACACACA others(1): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 NA18948.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0033 | a0001c0001t0001g0015a0001c0001t0014g0017a0001c0001t0033g0016 | 3 | 118 | 0.0254 | 8 | c.-53 others(19): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 4462 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167303682 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18948.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0033 | a0001c0001t0001g0015a0001c0001t0014g0017a0001c0001t0033g0016 | 3 | 118 | 0.0254 | 8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167390792 | C | CTGAATGA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0030others(1): Show | a0001c0001t0009g0034a0001c0001t0012g0075a0001c0001t0030g0072others(1): Show | 4 | 118 | 0.0339 | 8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167400166 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01169.hp1 HG01169.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0023others(21): Show | 24 | 118 | 0.2034 | 8 | c.-51 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167492877 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19240.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0028 | a0001c0001t0002g0094a0001c0001t0018g0093a0001c0001t0028g0056 | 3 | 118 | 0.0254 | 8 | c.-41 others(27): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167512558 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0045 | a0001c0001t0018g0060a0001c0001t0045g0045 | 2 | 118 | 0.0170 | 8 | c.-41 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167547693 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0023a0001c0001t0002g0049a0001c0001t0002g0052others(12): Show | 15 | 118 | 0.1271 | 8 | c.-41 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167548685 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01346.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0046a0001c0001t0001g0068a0001c0001t0001g0098others(20): Show | 23 | 118 | 0.1949 | 8 | c.-41 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167579432 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0033others(2): Show | a0001c0001t0001g0015a0001c0001t0002g0073a0001c0001t0033g0016others(2): Show | 5 | 118 | 0.0424 | 8 | c.-40 others(29): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |