view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AUTS2_chr7_69593475_70798506 | 70698785 | GCATTAA | G | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0006a0001c0001t0007a0001c0001t0019others(3): Show | a0001c0001t0006g0038 a0001c0001t0007g0040 a0001c0001t0019g0076 others(3): Show |
6 | 76 | 0.0789 | -6 | c.742 others(21): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70784768 | AAAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG01934.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0009a0001c0001t0025others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(6): Show |
9 | 76 | 0.1184 | -6 | c.214 others(23): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33883570 | TATATAG | T | intron_variant | MODIFIER | HG04184.hp2 NA18957.hp2 NA18968.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 a0001c0001t0002g0185 a0001c0001t0002g0202 others(3): Show |
6 | 264 | 0.0227 | -6 | c.446 others(23): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33905130 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0053 others(101): Show |
105 | 118 | 0.8898 | -6 | c.446 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33927256 | AAATAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG02145.hp2 HG02258.hp2 others(9): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0005others(1): Show | a0001c0001t0001a0003c0003t0003a0004c0005t0007others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0058 others(9): Show |
12 | 247 | 0.0486 | -6 | c.446 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33930954 | CAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00741.hp2 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0070 a0001c0001t0001g0071 others(46): Show |
50 | 106 | 0.4717 | -6 | c.446 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | CAGAGAG | C | intron_variant | MODIFIER | HG00140.hp1 HG01169.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0162 a0001c0001t0001g0255 |
3 | 190 | 0.0158 | -6 | c.446 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33938065 | GAATCAT | G | intron_variant | MODIFIER | HG03225.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023 a0001c0001t0006g0026 |
2 | 264 | 0.0076 | -6 | c.446 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33962919 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 HG02818.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0091 others(8): Show |
11 | 16 | 0.6875 | -6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33977271 | ATACTCT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0007 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 others(6): Show |
9 | 264 | 0.0341 | -6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33983186 | GTGTGTA | G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(47): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0052 others(47): Show |
50 | 234 | 0.2137 | -6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33983215 | CATATAT | C | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp1 HG01884.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(17): Show |
20 | 119 | 0.1681 | -6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34036848 | AATCCAT | A | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01106.hp2 others(11): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0003a0003c0007t0003 | a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 others(10): Show |
14 | 264 | 0.0530 | -6 | c.267 others(23): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32503339 | TATATAG | T | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02647.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(4): Show | a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(10): Show |
13 | 323 | 0.0402 | -6 | c.93+ others(21): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32503361 | GATATAT | G | intron_variant | MODIFIER | HG00621.hp2 HG01891.hp1 HG02615.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0001c0002t0058a0001c0002t0060others(3): Show | a0001c0002t0004g0060 a0001c0002t0058g0061 a0001c0002t0060g0081 others(3): Show |
6 | 168 | 0.0357 | -6 | c.93+ others(21): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32524529 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(147): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(59): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(147): Show |
150 | 303 | 0.4951 | -6 | c.94- others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32524553 | CACACAG | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(88): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0008a0001c0001t0010a0001c0001t0028others(38): Show | a0001c0001t0008g0246 a0001c0001t0008g0257 a0001c0001t0008g0263 others(88): Show |
91 | 328 | 0.2774 | -6 | c.94- others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32527045 | ATCACAG | A | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0008 | a0001c0008t0093a0001c0008t0094a0001c0008t0095others(2): Show | a0001c0008t0093g0056 a0001c0008t0094g0054 a0001c0008t0095g0055 others(2): Show |
5 | 328 | 0.0152 | -6 | c.94- others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32540871 | CTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01099.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(18): Show | a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0185 others(30): Show |
33 | 34 | 0.9706 | -6 | c.94- others(21): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32545364 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(92): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(30): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0175 others(92): Show |
95 | 203 | 0.4680 | -6 | c.300 others(21): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32563487 | ATGGATG | A | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01243.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0022a0001c0001t0023a0001c0001t0031others(14): Show | a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 others(22): Show |
25 | 328 | 0.0762 | -6 | c.121 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579424 | TATAATA | T | intron_variant | MODIFIER | HG02055.hp2 HG03195.hp2 HG03225.hp1 |
a0001 | a0001c0009 | a0001c0009t0032a0001c0009t0056 | a0001c0009t0032g0309 a0001c0009t0032g0310 a0001c0009t0056g0311 |
3 | 294 | 0.0102 | -6 | c.168 others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32579426 | TAATATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(166): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(61): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(166): Show |
169 | 326 | 0.5184 | -6 | c.168 others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32589809 | AAAAATT | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp2 others(69): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0117a0001c0004t0015a0001c0004t0025others(32): Show | a0001c0002t0117g0217 a0001c0004t0015g0118 a0001c0004t0015g0120 others(69): Show |
72 | 328 | 0.2195 | -6 | c.*59 others(17): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1084 | chr7 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGT | G | intron_variant | MODIFIER | HG02809.hp2 NA18968.hp1 NA18978.hp2 others(1): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0004c0005t0001 | a0002c0002t0002g0001 a0004c0005t0001g0006 |
4 | 174 | 0.0230 | -6 | c.287 others(21): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPR1A_chr12_63137759_63156201 | 63149794 | TCTCTCA | T | intron_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG02004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0016 | a0001c0001t0006g0126 a0001c0001t0007g0068 a0001c0001t0016g0025 |
5 | 425 | 0.0118 | -6 | c.970 others(19): Show |
AVPR1A | ENSG00000166148.4 | transcript | ENST00000299178.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0009a0001c0001t0032a0001c0003t0012others(4): Show | a0001c0001t0009g0022 a0001c0001t0032g0047 a0001c0003t0012g0021 others(5): Show |
13 | 123 | 0.1057 | -6 | c.-51 others(17): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar | |||||||
AVP_chr20_3077556_3089724 | 3088824 | CTTTGTT | C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01109.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(4): Show |
20 | 432 | 0.0463 | -6 | c.-41 others(17): Show |
AVP | ENSG00000101200.5 | transcript | ENST00000380293.3 | protein_coding | 4101 | chr20 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179368079 | AATAAAC | A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp2 others(35): Show |
a0001a0002a0003others(6): Show | a0001c0006a0001c0007a0002c0023others(7): Show | a0001c0006t0001a0001c0007t0001a0002c0023t0001others(7): Show | a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 others(35): Show |
38 | 354 | 0.1073 | -6 | c.98- others(19): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179381048 | TTTTTTC | T | intron_variant | MODIFIER | HG01106.hp2 HG01433.hp2 HG01496.hp1 others(9): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0296 a0004c0005t0001g0297 a0004c0005t0001g0298 others(9): Show |
12 | 354 | 0.0339 | -6 | c.581 others(23): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179408968 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(75): Show |
a0001a0002a0011others(2): Show | a0001c0002a0001c0006a0001c0011others(6): Show | a0001c0002t0001a0001c0006t0001a0001c0011t0001others(6): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(75): Show |
78 | 150 | 0.5200 | -6 | c.111 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 11/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179419644 | AGAGGGG | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(65): Show |
a0003a0006a0007others(7): Show | a0003c0004a0006c0009a0007c0010others(7): Show | a0003c0004t0001a0006c0009t0001a0007c0010t0001others(7): Show | a0003c0004t0001g0005 a0003c0004t0001g0007 a0003c0004t0001g0012 others(65): Show |
68 | 352 | 0.1932 | -6 | c.123 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179419672 | AGAGAGG | A | intron_variant | MODIFIER | HG01099.hp1 HG02055.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0103 a0001c0006t0001g0162 a0001c0006t0001g0163 others(4): Show |
7 | 354 | 0.0198 | -6 | c.123 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179421367 | CTTTTTT | C | intron_variant | MODIFIER | HG01071.hp2 HG01978.hp2 HG02630.hp1 others(5): Show |
a0003a0008a0020others(1): Show | a0003c0004a0008c0012a0020c0030others(1): Show | a0003c0004t0001a0008c0012t0001a0020c0030t0001others(1): Show | a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 others(5): Show |
8 | 67 | 0.1194 | -6 | c.123 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179427171 | AAACAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(66): Show |
a0003a0006a0007others(7): Show | a0003c0004a0006c0009a0007c0010others(7): Show | a0003c0004t0001a0006c0009t0001a0007c0010t0001others(7): Show | a0003c0004t0001g0005 a0003c0004t0001g0007 a0003c0004t0001g0012 others(66): Show |
69 | 354 | 0.1949 | -6 | c.123 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179439869 | GCACCCA | G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp2 others(66): Show |
a0003a0006a0007others(7): Show | a0003c0004a0006c0009a0007c0010others(7): Show | a0003c0004t0001a0006c0009t0001a0007c0010t0001others(7): Show | a0003c0004t0001g0005 a0003c0004t0001g0007 a0003c0004t0001g0012 others(66): Show |
69 | 354 | 0.1949 | -6 | c.156 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179455367 | CGGATCA | C | intron_variant | MODIFIER | HG01071.hp2 HG02922.hp1 HG03225.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0173 a0003c0004t0001g0176 a0003c0004t0001g0177 |
3 | 354 | 0.0085 | -6 | c.179 others(27): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | chr1 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179459930 | TTCCTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(102): Show |
a0001a0002a0006others(5): Show | a0001c0002a0001c0007a0001c0011others(8): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(8): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(102): Show |
105 | 353 | 0.2975 | -6 | c.179 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179466270 | TTTCTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG01515.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0003a0001c0015 | a0001c0003t0001a0001c0015t0001 | a0001c0003t0001g0273 a0001c0003t0001g0280 a0001c0003t0001g0284 others(1): Show |
4 | 310 | 0.0129 | -6 | c.179 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179489741 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(92): Show |
a0001a0002a0011others(3): Show | a0001c0002a0001c0007a0001c0011others(6): Show | a0001c0002t0001a0001c0007t0001a0001c0011t0001others(6): Show | a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(92): Show |
95 | 133 | 0.7143 | -6 | c.209 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179500337 | ATGTGTG | A | intron_variant | MODIFIER | HG02630.hp1 HG02976.hp2 NA19043.hp1 |
a0003a0010a0020 | a0003c0004a0010c0016a0020c0030 | a0003c0004t0001a0010c0016t0001a0020c0030t0001 | a0003c0004t0001g0180 a0010c0016t0001g0167 a0020c0030t0001g0181 |
3 | 109 | 0.0275 | -6 | c.238 others(25): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179526259 | GTAATAA | G | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(5): Show |
a0006a0010 | a0006c0009a0010c0016 | a0006c0009t0001a0010c0016t0001 | a0006c0009t0001g0175 a0006c0009t0001g0191 a0006c0009t0001g0192 others(5): Show |
8 | 354 | 0.0226 | -6 | c.261 others(23): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 326368 | AAAAAAT | A | intron_variant | MODIFIER | HG02622.hp1 HG02818.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0190 a0001c0001t0001g0198 others(4): Show |
7 | 374 | 0.0187 | -6 | c.879 others(25): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 326370 | AAAATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0186 a0001c0001t0001g0197 others(15): Show |
18 | 327 | 0.0550 | -6 | c.879 others(25): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 326372 | AATATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(73): Show |
a0001a0008a0010 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0087 a0001c0001t0001g0187 a0001c0001t0001g0204 others(71): Show |
76 | 233 | 0.3262 | -6 | c.879 others(25): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 339196 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 NA18952.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 a0001c0002t0001g0122 a0001c0002t0001g0123 others(4): Show |
7 | 308 | 0.0227 | -6 | c.878 others(23): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65538667 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(70): Show |
a0001a0002a0006 | a0001c0002a0001c0004a0001c0006others(4): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0002t0001g0268 a0001c0002t0001g0276 a0001c0002t0001g0277 others(52): Show |
73 | 89 | 0.8202 | -6 | c.106 others(23): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65564088 | TCACACA | T | upstream_gene_variant | MODIFIER | HG02135.hp2 HG02559.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0017 | a0001c0003t0001g0016 a0001c0003t0001g0195 a0001c0003t0001g0244 others(3): Show |
7 | 116 | 0.0603 | -6 | c.-27 others(17): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 2441 | chr17 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41221326 | GGGTCAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG01074.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0264 others(37): Show |
40 | 312 | 0.1282 | -6 | c.409 others(19): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41260298 | CTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0051 | a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0133 others(40): Show |
49 | 96 | 0.5104 | -6 | c.*42 others(15): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 420 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |