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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABAT_chr16_8669617_8789570 | 8733020 | AGGGGGCT others(42): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 HG02818.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0001c0001t0008a0002c0007t0007 | a0001c0001t0002g0291 a0001c0001t0002g0347 a0001c0001t0008g0034 others(1): Show |
4 | 360 | 0.0111 | -49 | c.-41 others(66): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8733030 | TCCCCCCA others(42): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG03195.hp1 HG03453.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0018 | a0001c0001t0003a0002c0002t0001a0002c0002t0006others(2): Show | a0001c0001t0003g0164 a0002c0002t0001g0292 a0002c0002t0006g0237 others(2): Show |
5 | 360 | 0.0139 | -49 | c.-41 others(66): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1051371 | TACTGAGG others(42): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG02071.hp1 HG02145.hp2 others(6): Show |
a0004a0005a0006others(5): Show | a0004c0005a0005c0017a0006c0019others(5): Show | a0004c0005t0002a0005c0017t0001a0006c0019t0002others(5): Show | a0004c0005t0002g0002 a0004c0005t0002g0003 a0005c0017t0001g0027 others(6): Show |
9 | 28 | 0.3214 | -49 | c.282 others(64): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838334 | CCCCCCCC others(42): Show |
C | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 331 | 0.0030 | -49 | c.361 others(68): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838687 | CCCCCCCA others(42): Show |
C | intron_variant | MODIFIER | NA19060.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0269 a0001c0001t0008g0291 |
2 | 334 | 0.0060 | -49 | c.361 others(68): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58289970 | AGGCGGCT others(42): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 300 | 0.0033 | -49 | c.838 others(66): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58289998 | CCCCCACC others(42): Show |
C | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 300 | 0.0033 | -49 | c.838 others(66): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179135743 | TGCCCGGC others(42): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0014 | 1 | 348 | 0.0029 | -49 | c.158 others(66): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1048541 | TGGGCCAC others(42): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01928.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0223 a0001c0001t0004g0335 a0001c0001t0004g0336 others(5): Show |
8 | 325 | 0.0246 | -49 | c.179 others(68): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1048685 | CTCCGGGG others(42): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0009 | a0001c0009t0018 | a0001c0009t0018g0101 | 1 | 322 | 0.0031 | -49 | c.179 others(68): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1069779 | AGGACCCC others(42): Show |
A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0124 | 1 | 336 | 0.0030 | -49 | c.101 others(66): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 9/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1162706 | TGGCTCAC others(42): Show |
T | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 335 | 0.0030 | -49 | c.61+ others(66): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107469960 | CTTTCTTT others(42): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 184 | 0.0054 | -49 | c.113 others(70): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111723155 | ACCTCCCT others(42): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0323 | 1 | 334 | 0.0030 | -49 | c.106 others(68): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111723314 | GGGGGGGC others(42): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 334 | 0.0030 | -49 | c.106 others(68): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289798 | CTCCGTCC others(42): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 294 | 0.0034 | -49 | c.*37 others(60): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2592 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289837 | CCCGTCCC others(42): Show |
C | downstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 153 | 0.0065 | -49 | c.*36 others(60): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2553 | chr1 | TogoVar | |||||||
ACER2_chr9_19404009_19457505 | 19427984 | TTTTCCTT others(42): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp2 others(50): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(42): Show |
53 | 318 | 0.1667 | -49 | c.365 others(66): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42819460 | AGCTGGGC others(42): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp2 HG03041.hp2 others(4): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0009a0004c0005t0009 | a0002c0002t0009g0015 a0002c0002t0009g0094 a0002c0002t0009g0203 others(3): Show |
7 | 340 | 0.0206 | -49 | c.-11 others(66): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41876242 | TGGGGGTC others(42): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG03579.hp2 others(6): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0003 | a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0254 others(6): Show |
9 | 292 | 0.0308 | -49 | c.248 others(68): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 22/28 | chr17 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834847 | GGGAGGGA others(42): Show |
G | upstream_gene_variant | MODIFIER | HG04184.hp1 NA18966.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0221 a0001c0001t0001g0326 |
3 | 361 | 0.0083 | -49 | c.-38 others(60): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3768 | chr2 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89147475 | GGAGGGTC others(42): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp1 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0034 a0002c0003t0005g0035 |
2 | 366 | 0.0055 | -49 | c.161 others(68): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73901533 | TGTGTGTG others(42): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00733.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0130 a0001c0001t0001g0313 a0001c0001t0001g0351 others(48): Show |
54 | 403 | 0.1340 | -49 | c.126 others(63): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236755820 | AATAGAGT others(42): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 | 1 | 340 | 0.0029 | -49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756394 | GTTAGAAC others(42): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(31): Show |
a0001a0007 | a0001c0001a0001c0007a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0155 a0001c0001t0001g0210 others(31): Show |
34 | 340 | 0.1000 | -49 | c.215 others(68): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756604 | AATAGAGT others(42): Show |
A | intron_variant | MODIFIER | NA18939.hp2 NA18953.hp2 NA19063.hp1 |
a0002 | a0002c0005a0002c0008 | a0002c0005t0004a0002c0008t0004 | a0002c0005t0004g0299 a0002c0008t0004g0026 a0002c0008t0004g0166 |
3 | 332 | 0.0090 | -49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236757109 | GCAGAGGG others(42): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG03516.hp1 |
a0001a0003 | a0001c0001a0003c0032 | a0001c0001t0017a0003c0032t0017 | a0001c0001t0017g0098 a0003c0032t0017g0095 |
2 | 342 | 0.0058 | -49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236757115 | GGCCCGCT others(42): Show |
G | intron_variant | MODIFIER | HG02015.hp1 HG02080.hp2 HG02083.hp2 others(12): Show |
a0002 | a0002c0005a0002c0008a0002c0019 | a0002c0005t0004a0002c0008t0004a0002c0019t0004 | a0002c0005t0004g0009 a0002c0005t0004g0010 a0002c0005t0004g0036 others(12): Show |
15 | 194 | 0.0773 | -49 | c.215 others(66): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70687291 | ACCCCCAC others(42): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(91): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0001c0005others(24): Show | a0001c0002t0002a0001c0004t0003a0001c0004t0057others(32): Show | a0001c0002t0002g0118 a0001c0002t0002g0132 a0001c0002t0002g0134 others(90): Show |
94 | 270 | 0.3481 | -49 | c.522 others(68): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179224804 | CCAGGTCT others(42): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02630.hp2 |
a0001a0015 | a0001c0001a0001c0004a0015c0083 | a0001c0001t0013a0001c0004t0004a0015c0083t0001 | a0001c0001t0013g0019 a0001c0004t0004g0187 a0015c0083t0001g0199 |
3 | 274 | 0.0109 | -49 | c.689 others(68): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72382239 | AAATTATA others(42): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0015 | a0001c0015t0005 | a0001c0015t0005g0024 | 1 | 172 | 0.0058 | -49 | c.661 others(68): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1236748 | TCTGCCTC others(42): Show |
T | intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0084 | 1 | 96 | 0.0104 | -49 | c.136 others(68): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1236775 | GCCTCCCG others(42): Show |
G | intron_variant | MODIFIER | NA19011.hp1 | a0009 | a0009c0015 | a0009c0015t0014 | a0009c0015t0014g0008 | 1 | 81 | 0.0123 | -49 | c.136 others(68): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237228 | TCTGCCTC others(42): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0042 | a0002c0002t0042g0061 | 1 | 100 | 0.0100 | -49 | c.136 others(68): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237949 | TCTGCCTC others(42): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0089 | 1 | 90 | 0.0111 | -49 | c.136 others(68): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1240028 | TCCCCCCT others(42): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG02735.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0066 a0002c0002t0004g0095 |
2 | 106 | 0.0189 | -49 | c.136 others(68): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1240133 | CCCTCCCG others(42): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG03209.hp1 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0033a0002c0002t0021 | a0001c0007t0033g0041 a0002c0002t0021g0035 |
2 | 66 | 0.0303 | -49 | c.136 others(68): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1505660 | ACCTCCCC others(42): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01934.hp2 HG02027.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0013a0001c0001t0018a0001c0001t0023others(14): Show | a0001c0001t0013g0007 a0001c0001t0018g0027 a0001c0001t0023g0023 others(15): Show |
18 | 106 | 0.1698 | -49 | c.101 others(70): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1530832 | TCAGCACT others(42): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG02735.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0066 a0002c0002t0004g0101 |
2 | 106 | 0.0189 | -49 | c.101 others(70): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1541488 | TCACAGCC others(42): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(29): Show | a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0094 others(38): Show |
41 | 106 | 0.3868 | -49 | c.101 others(70): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1542661 | TCACAGCC others(42): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0029 | 1 | 65 | 0.0154 | -49 | c.101 others(70): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1672002 | GGCAGAGC others(42): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG02027.hp2 HG02717.hp2 others(7): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0036a0001c0001t0055others(6): Show | a0001c0001t0003g0085 a0001c0001t0003g0098 a0001c0001t0036g0072 others(7): Show |
10 | 106 | 0.0943 | -49 | c.100 others(68): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGRD1_chr12_130948907_131146469 | 130996672 | TCCCTCCC others(42): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0031 | a0002c0031t0003 | a0002c0031t0003g0089 | 1 | 240 | 0.0042 | -49 | c.967 others(66): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131039171 | TCCTGTGC others(42): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01069.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(13): Show | a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0208 others(19): Show |
22 | 240 | 0.0917 | -49 | c.147 others(70): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADORA2B_chr17_15940130_15980746 | 15979819 | ACGGGGGG others(42): Show |
A | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01516.hp2 HG01517.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0030 a0001c0001t0001g0120 a0001c0001t0001g0173 others(6): Show |
11 | 344 | 0.0320 | -49 | c.*44 others(60): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 4074 | chr17 | TogoVar | |||||||
ADSS1_chr14_104719229_104752310 | 104729667 | GGGGAGGA others(42): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02559.hp2 HG03710.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0145 a0001c0001t0001g0182 a0001c0001t0001g0184 others(4): Show |
7 | 400 | 0.0175 | -49 | c.192 others(66): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235571964 | ATATATAT others(42): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0057 | 1 | 97 | 0.0103 | -49 | c.163 others(68): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235592278 | AGAAGGAG others(42): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp1 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0005g0007 a0001c0001t0007g0008 a0001c0001t0011g0020 others(2): Show |
5 | 95 | 0.0526 | -49 | c.163 others(68): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86633782 | GTGTATAT others(42): Show |
G | intron_variant | MODIFIER | HG02738.hp1 HG04204.hp2 |
a0001a0002 | a0001c0006a0002c0018 | a0001c0006t0002a0002c0018t0007 | a0001c0006t0002g0051 a0002c0018t0007g0038 |
2 | 130 | 0.0154 | -49 | c.299 others(70): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86633816 | ATGTATAT others(42): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0001 a0001c0002t0016g0004 |
2 | 132 | 0.0152 | -49 | c.299 others(70): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |