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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB4_chr7_95480943_95545233 | 95493384 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(88): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0256a0001c0001t0001g0263others(87): Show | 91 | 388 | 0.2345 | -8 | c.188 others(25): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB4_chr7_95480943_95545233 | 95513293 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00597.hp2 others(48): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0048a0001c0001t0001g0049others(47): Show | 51 | 388 | 0.1314 | -8 | c.488 others(27): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB4_chr7_95480943_95545233 | 95515157 | CTTTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01952.hp2 HG01993.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0006 | a0001c0001t0001g0180a0001c0001t0001g0324a0001c0001t0001g0329others(7): Show | 11 | 388 | 0.0284 | -8 | c.488 others(27): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB4_chr7_95480943_95545233 | 95515163 | CTTTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01192.hp1 HG02523.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010 | a0001c0001t0001g0097a0001c0001t0001g0103a0001c0001t0005g0026others(1): Show | 4 | 388 | 0.0103 | -8 | c.488 others(27): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB4_chr7_95480943_95545233 | 95515167 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02132.hp2 HG02698.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0073a0001c0001t0001g0128others(10): Show | 13 | 388 | 0.0335 | -8 | c.488 others(27): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB4_chr7_95480943_95545233 | 95515267 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01257.hp1 HG01258.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0001g0180a0001c0001t0001g0194a0001c0001t0001g0347others(13): Show | 16 | 388 | 0.0412 | -8 | c.488 others(27): Show |
ASB4 | ENSG00000005981.13 | transcript | ENST00000325885.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB5_chr4_176208673_176274222 | 176218168 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00735.hp1 others(18): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0003a0001c0002t0013a0001c0006t0003 | a0001c0002t0003g0004a0001c0002t0003g0018a0001c0002t0003g0043others(15): Show | 21 | 410 | 0.0512 | -8 | c.671 others(25): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218757 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01069.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0013others(2): Show | a0001c0001t0001g0129a0001c0002t0003g0004a0001c0002t0003g0018others(12): Show | 17 | 410 | 0.0415 | -8 | c.671 others(25): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218970 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp1 others(71): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0013 | a0001c0001t0001a0001c0004t0001a0002c0013t0010 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0015others(64): Show | 74 | 410 | 0.1805 | -8 | c.671 others(25): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219575 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02886.hp1 HG03130.hp1 HG03579.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0189others(5): Show | 8 | 410 | 0.0195 | -8 | c.670 others(25): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB7_chr15_100597589_100656701 | 100600551 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00673.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0023others(27): Show | 33 | 368 | 0.0897 | -8 | c.-27 others(19): Show |
ASB7 | ENSG00000183475.13 | transcript | ENST00000332783.12 | protein_coding | 2037 | chr15 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15263588 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02486.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0109a0001c0001t0002g0110a0001c0001t0002g0111others(7): Show | 13 | 336 | 0.0387 | -8 | c.95- others(23): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15270081 | TACACACA others(1): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0044 | 1 | 336 | 0.0030 | -8 | c.-21 others(17): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/7 | 208 | chrX | TogoVar | |||||
ASCC1_chr10_72091032_72221276 | 72141036 | TATAGATA others(1): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG01943.hp2 HG01981.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0061a0001c0001t0001g0114a0001c0001t0002g0013others(14): Show | 17 | 216 | 0.0787 | -8 | c.747 others(25): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
ASCC1_chr10_72091032_72221276 | 72193445 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG03225.hp2 HG03239.hp2 HG03453.hp1 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0005 | a0002c0002t0001g0167a0004c0005t0005g0023a0004c0005t0005g0161 | 3 | 216 | 0.0139 | -8 | c.489 others(25): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29784853 | ATCTCTCT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02965.hp2 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0018a0007c0007t0004g0035a0007c0007t0004g0036others(1): Show | 4 | 372 | 0.0108 | -8 | c.*41 others(19): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 3757 | chr22 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29818403 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01168.hp2 HG01169.hp1 others(26): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0015a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0199a0001c0001t0001g0202a0001c0001t0001g0211others(25): Show | 29 | 372 | 0.0780 | -8 | c.542 others(25): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 5/19 | chr22 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29824251 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(30): Show |
a0002a0005 | a0002c0002a0002c0019a0005c0005 | a0002c0002t0002a0002c0019t0002a0005c0005t0002 | a0002c0002t0002g0008a0002c0002t0002g0009a0002c0002t0002g0010others(24): Show | 33 | 372 | 0.0887 | -8 | c.411 others(23): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 4/19 | chr22 | TogoVar | ||||||
ASCC2_chr22_29783611_29843274 | 29827948 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG01891.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0004g0002a0001c0001t0004g0007a0001c0001t0004g0019others(23): Show | 29 | 372 | 0.0780 | -8 | c.82- others(23): Show |
ASCC2 | ENSG00000100325.15 | transcript | ENST00000307790.8 | protein_coding | 2/19 | chr22 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100532378 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02897.hp2 HG02976.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219a0001c0001t0001g0220a0001c0001t0001g0260 | 3 | 314 | 0.0096 | -8 | c.577 others(27): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 37/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100608119 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG03516.hp1 others(1): Show |
a0007a0018 | a0007c0012a0007c0025a0018c0032 | a0007c0012t0009a0007c0025t0017a0018c0032t0019 | a0007c0012t0009g0312a0007c0012t0009g0313a0007c0025t0017g0227others(1): Show | 4 | 314 | 0.0127 | -8 | c.478 others(27): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100634864 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(64): Show |
a0002a0004a0006others(3): Show | a0002c0003a0004c0008a0006c0009others(3): Show | a0002c0003t0002a0002c0003t0018a0004c0008t0003others(5): Show | a0002c0003t0002g0006a0002c0003t0002g0007a0002c0003t0002g0008others(64): Show | 67 | 314 | 0.2134 | -8 | c.412 others(27): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 25/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100723860 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01496.hp1 others(15): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0013others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0003others(3): Show | a0001c0001t0001g0228a0001c0001t0001g0235a0001c0001t0010g0001others(15): Show | 18 | 314 | 0.0573 | -8 | c.190 others(27): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100820290 | TACACAGA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(75): Show |
a0002a0003a0004others(5): Show | a0002c0003a0003c0005a0004c0008others(5): Show | a0002c0003t0002a0002c0003t0018a0003c0005t0002others(7): Show | a0002c0003t0002g0006a0002c0003t0002g0007a0002c0003t0002g0008others(75): Show | 78 | 314 | 0.2484 | -8 | c.802 others(27): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 4/41 | chr6 | TogoVar | ||||||
ASCL1_chr12_102952674_102965513 | 102960716 | GTGTGTGT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02886.hp2 HG03579.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0001 | 3 | 354 | 0.0085 | -8 | c.*14 others(19): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 204 | chr12 | TogoVar | ||||||
ASDURF_chr2_189656459_189671401 | 189665596 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02074.hp2 HG02109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0001g0034a0001c0001t0001g0049others(7): Show | 18 | 340 | 0.0529 | -8 | c.220 others(23): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASDURF_chr2_189656459_189671401 | 189665598 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0098a0001c0001t0003g0075a0001c0001t0003g0089 | 3 | 340 | 0.0088 | -8 | c.220 others(23): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASF1A_chr6_118889152_118914171 | 118894744 | TGAGCGGA others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0082 | 7 | 400 | 0.0175 | -8 | c.109 others(23): Show |
ASF1A | ENSG00000111875.8 | transcript | ENST00000229595.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ASF1B_chr19_14114512_14141589 | 14133797 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02486.hp2 HG03098.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0028a0001c0002t0002g0153a0001c0002t0002g0181others(3): Show | 8 | 334 | 0.0240 | -8 | c.109 others(25): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ASGR1_chr17_7168431_7184370 | 7183611 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00733.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0013others(31): Show | 78 | 442 | 0.1765 | -8 | c.-44 others(19): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 4242 | chr17 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7097642 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01516.hp2 HG01517.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0003a0001c0001t0003g0281a0001c0001t0003g0297others(9): Show | 13 | 432 | 0.0301 | -8 | c.*39 others(19): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3683 | chr17 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7118481 | GAGGAAGG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0167a0001c0001t0001g0170others(33): Show | 47 | 432 | 0.1088 | -8 | c.-39 others(19): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3660 | chr17 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155357078 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG03195.hp2 others(1): Show |
a0003a0008 | a0003c0003a0008c0013 | a0003c0003t0003a0008c0013t0002 | a0003c0003t0003g0176a0003c0003t0003g0178a0003c0003t0003g0179others(1): Show | 4 | 182 | 0.0220 | -8 | c.705 others(25): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 15/27 | chr1 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155517642 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(57): Show |
a0001 | a0001c0001a0001c0010a0001c0017 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(57): Show | 60 | 182 | 0.3297 | -8 | c.420 others(25): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38107868 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(59): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0003others(47): Show | 62 | 330 | 0.1879 | -8 | c.401 others(23): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASH2L_chr8_38100529_38145080 | 38121333 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(50): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(47): Show | 53 | 330 | 0.1606 | -8 | c.116 others(25): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASIC1_chr12_50052596_50088611 | 50069256 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(23): Show | 64 | 324 | 0.1975 | -8 | c.559 others(25): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ASIC1_chr12_50052596_50088611 | 50074860 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01346.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0006 | a0001c0001t0001g0054a0001c0001t0001g0098a0001c0001t0001g0114others(6): Show | 11 | 324 | 0.0340 | -8 | c.559 others(25): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ASIC2_chr17_33008087_33298295 | 33044261 | CCCATCCA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0009a0001c0002t0002others(3): Show | a0001c0001t0004g0063a0001c0001t0009g0012a0001c0002t0002g0093others(7): Show | 10 | 240 | 0.0417 | -8 | c.988 others(27): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33233514 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01109.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(23): Show | a0001c0001t0003g0038a0001c0001t0003g0042a0001c0001t0004g0022others(39): Show | 42 | 240 | 0.1750 | -8 | c.708 others(27): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33268341 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00735.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(15): Show | a0001c0001t0003g0020a0001c0001t0003g0024a0001c0001t0003g0036others(32): Show | 35 | 240 | 0.1458 | -8 | c.708 others(27): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33297823 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00735.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0003a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0001t0003g0060a0001c0004t0001g0001a0001c0004t0001g0141others(19): Show | 23 | 240 | 0.0958 | -8 | c.-57 others(19): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 4529 | chr17 | TogoVar | ||||||
ASIC4_chr2_219509482_219543772 | 219534764 | GCCATCCA others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG00738.hp2 others(41): Show |
a0001a0002a0003 | a0001c0021a0002c0006a0002c0009others(2): Show | a0001c0021t0001a0002c0006t0001a0002c0009t0001others(3): Show | a0001c0021t0001g0208a0002c0006t0001g0179a0002c0009t0001g0024others(31): Show | 44 | 372 | 0.1183 | -8 | c.107 others(25): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ASIC5_chr4_155824729_155871277 | 155825297 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(151): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(85): Show | 154 | 334 | 0.4611 | -8 | c.*45 others(19): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 4431 | chr4 | TogoVar | ||||||
ASIC5_chr4_155824729_155871277 | 155839348 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(203): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(109): Show | 206 | 334 | 0.6168 | -8 | c.101 others(25): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 6/9 | chr4 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66074704 | TTTTCTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp2 HG03239.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0001a0001c0001t0007g0001 | 4 | 316 | 0.0127 | -8 | c.-11 others(19): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 1114 | chr7 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66087243 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0011a0001c0002t0001others(1): Show | a0001c0001t0002g0007a0001c0001t0002g0026a0001c0001t0002g0027others(5): Show | 17 | 316 | 0.0538 | -8 | c.603 others(21): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASMTL_chrX_1398139_1457909 | 1400363 | CTGTGTGT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01070.hp2 others(11): Show |
a0000a0005a0013others(1): Show | a0000c0007a0000c0030a0000c0039others(4): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(4): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(11): Show | 14 | 185 | 0.0757 | -8 | c.*28 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 2775 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1403966 | GATGGATG others(1): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0013 | a0013c0036 | a0013c0036t0001 | a0013c0036t0001g0147 | 1 | 185 | 0.0054 | -8 | c.164 others(25): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1406619 | GATGGATG others(1): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0013 | a0013c0036 | a0013c0036t0001 | a0013c0036t0001g0147 | 1 | 185 | 0.0054 | -8 | c.164 others(27): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar |