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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB18_chr2_236188459_236269406 | 236246796 | TCTTTC | T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01106.hp1 others(72): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(22): Show | a0001c0001t0001g0014a0001c0001t0001g0064a0001c0001t0001g0065others(69): Show | 75 | 250 | 0.3000 | -5 | c.206 others(22): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
ASB18_chr2_236188459_236269406 | 236254554 | TTCTTC | T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0001a0001c0007t0007g0235a0001c0007t0007g0236others(1): Show | 6 | 250 | 0.0240 | -5 | c.205 others(22): Show |
ASB18 | ENSG00000182177.15 | transcript | ENST00000409749.8 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
ASB3_chr2_53664980_53791953 | 53671888 | TATAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG01081.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0211a0001c0001t0001g0216a0001c0001t0001g0217others(15): Show | 18 | 350 | 0.0514 | -5 | c.137 others(24): Show |
ASB3 | ENSG00000115239.24 | transcript | ENST00000263634.8 | protein_coding | 9/9 | chr2 | TogoVar | ||||||
ASB7_chr15_100597589_100656701 | 100656016 | TTAAAA | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00733.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0057a0001c0001t0002g0004a0001c0001t0002g0007others(44): Show | 51 | 368 | 0.1386 | -5 | c.*75 others(16): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 4316 | chr15 | TogoVar | ||||||
ASB8_chr12_48142789_48162515 | 48156633 | ATAAAT | A | intron_variant | MODIFIER | HG01167.hp1 HG02559.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022a0001c0001t0034 | a0001c0001t0004g0183a0001c0001t0022g0048a0001c0001t0034g0182 | 4 | 450 | 0.0089 | -5 | c.-34 others(20): Show |
ASB8 | ENSG00000177981.11 | transcript | ENST00000317697.8 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15250708 | GATTTT | G | intron_variant | MODIFIER | HG02080.hp2 HG02523.hp2 NA18946.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0125a0001c0001t0001g0136others(2): Show | 7 | 336 | 0.0208 | -5 | c.434 others(20): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 4/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267752 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0007a0001c0004t0005 | a0001c0001t0005g0034a0001c0001t0005g0217a0001c0001t0005g0218others(3): Show | 7 | 336 | 0.0208 | -5 | c.94+ others(20): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72129976 | CAAAAA | C | intron_variant | MODIFIER | HG01993.hp2 HG02280.hp2 HG02486.hp1 others(15): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0005 | a0001c0001t0001g0027a0001c0001t0001g0032a0001c0001t0001g0090others(15): Show | 18 | 216 | 0.0833 | -5 | c.872 others(22): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 8/9 | chr10 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72146859 | AAAGTT | A | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG03225.hp2 others(1): Show |
a0004a0005 | a0004c0005a0005c0004 | a0004c0005t0005a0005c0004t0005 | a0004c0005t0005g0023a0004c0005t0005g0161a0005c0004t0005g0189others(1): Show | 4 | 216 | 0.0185 | -5 | c.746 others(22): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72198165 | AGGGAG | A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01069.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0032others(62): Show | 65 | 216 | 0.3009 | -5 | c.311 others(22): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72198374 | GAGGGA | G | intron_variant | MODIFIER | HG01192.hp2 HG02683.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0214a0001c0001t0002g0009a0001c0001t0002g0015others(1): Show | 4 | 216 | 0.0185 | -5 | c.311 others(22): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29802492 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG02015.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0009a0002c0002t0002others(1): Show | a0001c0001t0003g0001a0001c0001t0003g0015a0001c0001t0003g0301others(11): Show | 18 | 372 | 0.0484 | -5 | c.135 others(22): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 13/19 | chr22 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29836379 | CAAAAA | C | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02965.hp2 others(3): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0002a0007c0007t0004 | a0001c0001t0002g0133a0001c0001t0002g0134a0001c0001t0002g0135others(3): Show | 6 | 372 | 0.0161 | -5 | c.-18 others(22): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 1/19 | chr22 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100532406 | ATTTTT | A | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01361.hp2 others(18): Show |
a0001a0003a0012 | a0001c0002a0003c0004a0003c0026others(1): Show | a0001c0002t0003a0003c0004t0001a0003c0004t0004others(2): Show | a0001c0002t0003g0075a0003c0004t0001g0211a0003c0004t0001g0288others(18): Show | 21 | 314 | 0.0669 | -5 | c.577 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 37/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608229 | ATACTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02083.hp2 others(8): Show |
a0001a0020 | a0001c0006a0020c0033 | a0001c0006t0005a0020c0033t0001 | a0001c0006t0005g0161a0001c0006t0005g0162a0001c0006t0005g0163others(8): Show | 11 | 314 | 0.0350 | -5 | c.478 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608575 | TTTATA | T | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201a0001c0002t0001g0202a0001c0002t0001g0203others(3): Show | 6 | 314 | 0.0191 | -5 | c.478 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608687 | TTTATA | T | intron_variant | MODIFIER | HG00438.hp2 HG02071.hp2 NA18747.hp2 others(5): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0002a0003c0004t0004 | a0002c0003t0002g0010a0002c0003t0002g0016a0003c0004t0004g0173others(5): Show | 8 | 314 | 0.0255 | -5 | c.478 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608726 | ATACTT | A | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201a0001c0002t0001g0202a0001c0002t0001g0204others(2): Show | 5 | 314 | 0.0159 | -5 | c.478 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100609541 | TTAAAG | T | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0161a0001c0006t0005g0162a0001c0006t0005g0163others(7): Show | 10 | 314 | 0.0319 | -5 | c.478 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100712751 | CTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01081.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0171a0003c0004t0004g0172a0003c0004t0004g0173others(19): Show | 22 | 314 | 0.0701 | -5 | c.215 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 13/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100771866 | GTTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(115): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0208a0001c0001t0001g0212a0001c0001t0001g0213others(115): Show | 118 | 314 | 0.3758 | -5 | c.139 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 8/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100778406 | CTAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(206): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0208a0001c0001t0001g0212a0001c0001t0001g0213others(206): Show | 209 | 314 | 0.6656 | -5 | c.139 others(26): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 8/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100818583 | AAGAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(43): Show |
a0001a0004a0006others(1): Show | a0001c0002a0001c0019a0001c0020others(3): Show | a0001c0002t0003a0001c0002t0013a0001c0019t0012others(4): Show | a0001c0002t0003g0075a0001c0002t0003g0076a0001c0002t0003g0077others(43): Show | 46 | 314 | 0.1465 | -5 | c.802 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 4/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100818748 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(64): Show |
a0002a0003a0004others(5): Show | a0002c0003a0003c0005a0004c0008others(5): Show | a0002c0003t0002a0002c0003t0018a0003c0005t0001others(6): Show | a0002c0003t0002g0006a0002c0003t0002g0007a0002c0003t0002g0008others(64): Show | 67 | 314 | 0.2134 | -5 | c.802 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 4/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100858129 | ATAAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00738.hp2 others(40): Show |
a0002a0004a0009others(2): Show | a0002c0003a0004c0008a0004c0013others(3): Show | a0002c0003t0002a0002c0003t0018a0004c0008t0003others(4): Show | a0002c0003t0002g0006a0002c0003t0002g0027a0002c0003t0002g0028others(40): Show | 43 | 314 | 0.1369 | -5 | c.241 others(22): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 3/41 | chr6 | TogoVar | ||||||
ASCL1_chr12_102952674_102965513 | 102962458 | CTTTCT | C | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01192.hp1 HG01192.hp2 others(3): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0003a0002c0002t0003a0007c0008t0023 | a0001c0001t0003g0001a0002c0002t0003g0001a0007c0008t0023g0001 | 6 | 354 | 0.0170 | -5 | c.*31 others(16): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1946 | chr12 | TogoVar | ||||||
ASCL5_chr1_201108943_201132184 | 201126973 | AGCCCT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(155): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(41): Show | 158 | 418 | 0.3780 | -5 | c.-50 others(22): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
ASCL5_chr1_201108943_201132184 | 201131020 | ATATAT | A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0014others(13): Show | 45 | 418 | 0.1077 | -5 | c.-44 others(16): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 3837 | chr1 | TogoVar | ||||||
ASDURF_chr2_189656459_189671401 | 189669452 | TATAAC | T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0030a0001c0001t0001g0054others(2): Show | 9 | 340 | 0.0265 | -5 | c.*33 others(16): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3052 | chr2 | TogoVar | ||||||
ASF1A_chr6_118889152_118914171 | 118907261 | TACTTA | T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 4 | 400 | 0.0100 | -5 | c.403 others(20): Show |
ASF1A | ENSG00000111875.8 | transcript | ENST00000229595.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ASF1B_chr19_14114512_14141589 | 14126914 | CTATTT | C | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0046a0001c0002t0002g0047a0001c0002t0002g0048others(1): Show | 4 | 334 | 0.0120 | -5 | c.110 others(20): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ASF1B_chr19_14114512_14141589 | 14129678 | CAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp2 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004a0001c0002t0002g0031a0001c0002t0002g0033others(16): Show | 30 | 334 | 0.0898 | -5 | c.110 others(22): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ASGR1_chr17_7168431_7184370 | 7178728 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0045a0001c0001t0001g0111others(13): Show | 46 | 442 | 0.1041 | -5 | c.-25 others(20): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7105333 | TAAAAG | T | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG01074.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0158a0001c0001t0001g0160a0001c0001t0001g0162others(43): Show | 54 | 432 | 0.1250 | -5 | c.648 others(22): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155416126 | AATTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00621.hp1 others(61): Show |
a0001 | a0001c0001a0001c0010a0001c0017 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(61): Show | 64 | 182 | 0.3517 | -5 | c.582 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 5/27 | chr1 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155466356 | AAAAAC | A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02723.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0176a0003c0003t0003g0177a0003c0003t0003g0178others(1): Show | 4 | 182 | 0.0220 | -5 | c.498 others(24): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 3/27 | chr1 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155490968 | CAAAAA | C | intron_variant | MODIFIER | HG01975.hp2 HG02451.hp2 HG02717.hp2 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0006a0002c0002t0001a0006c0006t0001 | a0001c0001t0006g0084a0002c0002t0001g0085a0002c0002t0001g0087others(3): Show | 6 | 182 | 0.0330 | -5 | c.421 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33012650 | GGGGGT | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0009a0001c0001t0020a0001c0002t0005others(3): Show | a0001c0001t0009g0012a0001c0001t0020g0021a0001c0002t0005g0094others(3): Show | 6 | 240 | 0.0250 | -5 | c.*13 others(16): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 436 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33068528 | TCAAAA | T | intron_variant | MODIFIER | HG01192.hp2 HG02572.hp2 HG02622.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0015 | a0001c0002t0005g0101a0001c0002t0005g0103a0001c0002t0015g0087 | 3 | 240 | 0.0125 | -5 | c.987 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33154995 | TTTCAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0007g0224a0001c0002t0001g0110a0001c0002t0002g0095others(2): Show | 5 | 240 | 0.0208 | -5 | c.709 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33192384 | AAAAAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00544.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0003g0041a0001c0001t0003g0044a0001c0001t0003g0078others(18): Show | 21 | 240 | 0.0875 | -5 | c.709 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33232446 | AATGGT | A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0009a0001c0001t0022others(5): Show | a0001c0001t0004g0062a0001c0001t0004g0063a0001c0001t0009g0012others(8): Show | 11 | 240 | 0.0458 | -5 | c.708 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33232498 | CGGTAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(142): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(36): Show | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0015others(141): Show | 145 | 240 | 0.6042 | -5 | c.708 others(24): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC5_chr4_155824729_155871277 | 155846710 | TTAAAA | T | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0017a0001c0001t0001g0088a0001c0001t0007g0089 | 5 | 334 | 0.0150 | -5 | c.712 others(22): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
ASIP_chr20_34236423_34274344 | 34253436 | TTTTTA | T | intron_variant | MODIFIER | HG00544.hp1 HG01074.hp2 HG01081.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(54): Show | 62 | 306 | 0.2026 | -5 | c.-10 others(22): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ASIP_chr20_34236423_34274344 | 34269946 | TAAAAA | T | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02723.hp1 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0013others(6): Show | 10 | 306 | 0.0327 | -5 | c.*78 others(14): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 603 | chr20 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66074724 | CTTTCT | C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01257.hp2 HG01358.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0003t0001a0001c0011t0001 | a0001c0001t0001g0011a0001c0001t0001g0041a0001c0001t0001g0042others(7): Show | 13 | 316 | 0.0411 | -5 | c.-11 others(16): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1094 | chr7 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1424814 | CCATTT | C | intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0165 | 1 | 185 | 0.0054 | -5 | c.106 others(22): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 8/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1431449 | ATATAT | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 NA18906.hp1 |
a0007a0016 | a0007c0017a0016c0028 | a0007c0017t0001a0016c0028t0001 | a0007c0017t0001g0167a0007c0017t0001g0168a0016c0028t0001g0160 | 3 | 185 | 0.0162 | -5 | c.509 others(20): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1431620 | CAATAT | C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02451.hp2 others(1): Show |
a0002a0007a0016 | a0002c0009a0007c0017a0016c0028 | a0002c0009t0001a0007c0017t0001a0016c0028t0001 | a0002c0009t0001g0111a0007c0017t0001g0167a0007c0017t0001g0168others(1): Show | 4 | 185 | 0.0216 | -5 | c.509 others(20): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 6/12 | chrX | TogoVar |