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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG10_chr5_81967023_82261133 | 81993359 | C | CTTTCTTT others(24): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0028 | 1 | 149 | 0.0067 | 31 | c.108 others(48): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82118400 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG02080.hp2 others(7): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0003c0003t0012a0004c0004t0002others(2): Show | a0003c0003t0001g0178 a0003c0003t0001g0194 a0003c0003t0012g0193 others(7): Show |
10 | 195 | 0.0513 | 31 | c.217 others(50): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96308283 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03834.hp1 |
a0002a0023 | a0002c0001a0023c0038 | a0002c0001t0006a0023c0038t0006 | a0002c0001t0006g0165 a0023c0038t0006g0170 |
2 | 328 | 0.0061 | 31 | c.430 others(50): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 29/41 | chr14 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106225430 | A | AACATGAG others(24): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 356 | 0.0028 | 31 | c.573 others(50): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATG7_chr3_11267397_11562665 | 11378027 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0080 | 1 | 16 | 0.0625 | 31 | c.187 others(50): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38329423 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 74 | 0.0135 | 31 | c.364 others(50): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATL2_chr2_38288954_38382273 | 38337486 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18950.hp1 NA20805.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0139 a0002c0002t0001g0232 |
2 | 29 | 0.0690 | 31 | c.363 others(48): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160650118 | T | TTTATATA others(24): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0008 | a0001c0008t0037 | a0001c0008t0037g0023 | 1 | 216 | 0.0046 | 31 | c.676 others(46): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160654084 | T | TATATGTT others(24): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 82 | 0.0122 | 31 | c.676 others(48): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01192.hp1 HG02083.hp1 others(1): Show |
a0001a0014 | a0001c0001a0001c0002a0014c0021 | a0001c0001t0002a0001c0002t0005a0001c0002t0006others(1): Show | a0001c0001t0002g0075 a0001c0002t0005g0017 a0001c0002t0006g0218 others(1): Show |
4 | 36 | 0.1111 | 31 | c.-20 others(52): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112845814 | C | CCAGTCCA others(24): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19081.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0018 | a0001c0001t0019g0142 a0001c0002t0018g0189 |
2 | 252 | 0.0079 | 31 | c.180 others(50): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139866343 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0011 | 1 | 89 | 0.0112 | 31 | c.28- others(48): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0099 | 1 | 106 | 0.0094 | 31 | c.-23 others(42): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01175.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0329 a0001c0001t0003g0192 |
2 | 21 | 0.0952 | 31 | c.100 others(46): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02280.hp2 NA18956.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0079 a0001c0001t0001g0080 |
4 | 71 | 0.0563 | 31 | c.39+ others(44): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ATP5MGL_chr22_42634803_42645601 | 42638728 | T | TAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 61 | 0.0164 | 31 | c.*12 others(42): Show |
ATP5MGL | ENSG00000249222.1 | transcript | ENST00000505920.1 | protein_coding | 1074 | chr22 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138737113 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0004others(7): Show | a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0098 others(25): Show |
28 | 191 | 0.1466 | 31 | c.157 others(50): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745658 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 115 | 0.0087 | 31 | c.132 others(48): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745962 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0363 | 1 | 90 | 0.0111 | 31 | c.132 others(48): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745962 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0197 | 1 | 90 | 0.0111 | 31 | c.132 others(48): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138745962 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0195 a0001c0021t0001g0196 |
2 | 91 | 0.0220 | 31 | c.132 others(48): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 13/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138796721 | A | AGTGGAAG others(24): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp1 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(19): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0024 others(40): Show |
43 | 374 | 0.1150 | 31 | c.-12 others(50): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ATP6V0B_chr1_43969960_43983295 | 43978341 | G | GCCTTCCT others(24): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 394 | 0.0025 | 31 | c.*33 others(40): Show |
ATP6V0B | ENSG00000117410.14 | transcript | ENST00000472174.7 | protein_coding | 47 | chr1 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 78046821 | G | GTTTACAA others(24): Show |
3_prime_UTR_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0103 | 1 | 231 | 0.0043 | 31 | c.*25 others(40): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 283 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25665586 | T | TGCGTGGA others(24): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0003 | a0001c0003t0065 | a0001c0003t0065g0033 | 1 | 92 | 0.0109 | 31 | c.221 others(52): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25665586 | T | TGTGTGGA others(24): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01261.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0011a0001c0001t0017a0001c0001t0026others(25): Show | a0001c0001t0011g0061 a0001c0001t0017g0051 a0001c0001t0026g0089 others(25): Show |
28 | 119 | 0.2353 | 31 | c.221 others(52): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57680277 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0012 | a0001c0001t0005g0011 a0001c0001t0005g0068 a0001c0001t0009g0262 others(1): Show |
4 | 17 | 0.2353 | 31 | c.163 others(50): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50087339 | A | AATAGATA others(24): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02717.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0003a0009c0009t0001a0009c0009t0024 | a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 others(2): Show |
5 | 15 | 0.3333 | 31 | c.29- others(48): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51718814 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0141 | 1 | 81 | 0.0123 | 31 | c.328 others(48): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01934.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(3): Show |
6 | 7 | 0.8571 | 31 | c.119 others(48): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79323079 | A | ATTTATCG others(24): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0002c0032a0005c0009others(1): Show | a0001c0001t0001a0002c0032t0005a0005c0009t0005others(1): Show | a0001c0001t0001g0049 a0002c0032t0005g0189 a0005c0009t0005g0165 others(5): Show |
8 | 284 | 0.0282 | 31 | c.177 others(50): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115381432 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0001t0011a0001c0001t0013others(2): Show | a0001c0001t0010g0017 a0001c0001t0011g0121 a0001c0001t0013g0018 others(2): Show |
5 | 38 | 0.1316 | 31 | c.317 others(52): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115738154 | T | TTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 90 | 0.0111 | 31 | c.390 others(52): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 17 | 0.0588 | 31 | c.455 others(48): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142544452 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 112 | 0.0089 | 31 | c.335 others(50): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45849640 | C | CACCCACC others(24): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 314 | 0.0032 | 31 | c.*59 others(42): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 4334 | chr22 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731749 | A | AAAAGAAA others(24): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01934.hp1 HG01952.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0006g0025 others(6): Show |
9 | 250 | 0.0360 | 31 | c.355 others(50): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69614367 | T | TCTTTTCT others(24): Show |
intron_variant | MODIFIER | HG01934.hp1 NA19030.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0062 a0001c0001t0004g0042 a0001c0001t0004g0056 |
3 | 53 | 0.0566 | 31 | c.309 others(50): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70579244 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0014a0001c0003t0008 | a0001c0001t0002g0049 a0001c0001t0002g0067 a0001c0001t0014g0070 others(1): Show |
4 | 11 | 0.3636 | 31 | c.691 others(52): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 6 | 0.1667 | 31 | c.446 others(50): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 324187 | C | CTTACGGG others(24): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03209.hp1 HG03486.hp1 |
a0001 | a0001c0004 | a0001c0004t0013a0001c0004t0032 | a0001c0004t0013g0278 a0001c0004t0013g0280 a0001c0004t0032g0279 |
3 | 350 | 0.0086 | 31 | c.879 others(48): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 324187 | C | CTTACGGG others(24): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01071.hp1 others(23): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(11): Show | a0001c0001t0001g0090 a0001c0001t0013g0059 a0001c0002t0001g0109 others(22): Show |
26 | 373 | 0.0697 | 31 | c.879 others(48): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 324210 | C | CGGGCCAC others(24): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0061 | 1 | 376 | 0.0027 | 31 | c.879 others(48): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 334333 | T | TACACAGC others(24): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03209.hp1 HG03486.hp1 |
a0001 | a0001c0004 | a0001c0004t0013a0001c0004t0032 | a0001c0004t0013g0278 a0001c0004t0013g0280 a0001c0004t0032g0279 |
3 | 372 | 0.0081 | 31 | c.878 others(50): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
AXIN1_chr16_282440_357723 | 334549 | T | TAACACAG others(24): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(31): Show | a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(86): Show |
90 | 371 | 0.2426 | 31 | c.878 others(50): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 39 | 0.0256 | 31 | c.-38 others(42): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 39 | 0.0256 | 31 | c.-38 others(42): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128 | 1 | 39 | 0.0256 | 31 | c.-38 others(42): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 39 | 0.0256 | 31 | c.-38 others(42): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 39 | 0.0256 | 31 | c.-38 others(42): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar |