| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HCN2_chr19_584881_622159 | 603002 | TGCCCGGG others(151): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 408 | 0.0025 | -158 | c.633 others(15): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| IL1RAPL1_chrX_28582446_29961718 | 29803178 | TATATGTA others(151): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 135 | 0.0074 | -158 | c.779 others(21): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL3RA_chrX_1331785_1387689 | 1365814 | AGCGGGGT others(151): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 115 | 0.0087 | -158 | c.874 others(15): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IPCEF1_chr6_154149496_154361803 | 154357639 | TATAATAT others(151): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 264 | 0.0038 | -158 | c.-11 others(11): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 837 | chr6 | TogoVar | ||||||
| ITIH2_chr10_7698316_7754520 | 7737648 | CTATATTA others(151): Show |
C | intron_variant | MODIFIER | HG00558.hp2 NA18612.hp1 NA18973.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0190a0002c0003t0001g0192a0002c0003t0001g0236others(1): Show | 4 | 380 | 0.0105 | -158 | c.195 others(17): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79878258 | AGAGGGCG others(151): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0281 | 1 | 312 | 0.0032 | -158 | c.624 others(19): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNH1_chr1_210673314_211139148 | 211111980 | AGGAGCAC others(151): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129a0001c0001t0003g0130 | 2 | 164 | 0.0122 | -158 | c.80- others(15): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
| KIF3C_chr2_25921598_25987497 | 25962779 | TATATATA others(151): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG02886.hp1 others(3): Show |
a0001a0003 | a0001c0003a0001c0013a0003c0009 | a0001c0003t0001a0001c0003t0004a0001c0003t0032others(2): Show | a0001c0003t0001g0122a0001c0003t0004g0204a0001c0003t0004g0224others(3): Show | 6 | 240 | 0.0250 | -158 | c.154 others(19): Show |
KIF3C | ENSG00000084731.15 | transcript | ENST00000264712.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
| KNDC1_chr10_133155219_133231412 | 133220359 | GCGCGCCC others(151): Show |
G | intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0035 | 1 | 332 | 0.0030 | -158 | c.501 others(17): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LAMA2_chr6_128878138_129521566 | 129286724 | TAATATAT others(151): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00609.hp2 others(18): Show |
a0001a0004a0005others(8): Show | a0001c0001a0001c0011a0001c0012others(15): Show | a0001c0001t0001a0001c0011t0002a0001c0012t0001others(15): Show | a0001c0001t0001g0056a0001c0001t0001g0070a0001c0001t0001g0087others(18): Show | 21 | 88 | 0.2386 | -158 | c.253 others(18): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 18/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| LIPG_chr18_49557057_49604185 | 49579027 | GGAGAGGG others(151): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0047 | 1 | 384 | 0.0026 | -158 | c.794 others(17): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LOC102725191_chr7_12499441_12546270 | 12528124 | GCTTTCCT others(151): Show |
G | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 HG03669.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0275a0002c0002t0002g0040 | 3 | 422 | 0.0071 | -158 | c.545 others(15): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LOC647264_chr13_63827361_63838053 | 63837478 | GCCCCTCT others(151): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02922.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 442 | 0.0068 | -158 | c.-46 others(11): Show |
LOC647264 | ENSG00000285566.2 | transcript | ENST00000648713.2 | protein_coding | 4426 | chr13 | TogoVar | ||||||
| LPP_chr3_188149157_188895671 | 188784518 | CATATATA others(151): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0004 | a0004c0010 | a0004c0010t0035 | a0004c0010t0035g0060 | 1 | 76 | 0.0132 | -158 | c.141 others(21): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LRP8_chr1_53237364_53333070 | 53283699 | ACTTACTT others(151): Show |
A | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005 | 1 | 296 | 0.0034 | -158 | c.368 others(17): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| LYPD8_chr1_248734415_248760759 | 248746616 | CCCCGCAC others(151): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 374 | 0.0027 | -158 | c.338 others(17): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| LYPD8_chr1_248734415_248760759 | 248746709 | GCCCGCAC others(151): Show |
G | intron_variant | MODIFIER | NA18966.hp1 NA19000.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0113a0001c0001t0001g0114 | 3 | 374 | 0.0080 | -158 | c.337 others(17): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| MAFF_chr22_38196994_38221507 | 38217101 | TGGATCAT others(151): Show |
T | downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 2 | 388 | 0.0052 | -158 | c.*22 others(11): Show |
MAFF | ENSG00000185022.12 | transcript | ENST00000338483.7 | protein_coding | 595 | chr22 | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19452228 | GAGAAGAG others(151): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG02015.hp1 HG03239.hp1 others(6): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0017c0024 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0062a0001c0001t0001g0087a0001c0001t0001g0103others(6): Show | 9 | 163 | 0.0552 | -158 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113457611 | GTCTGGTG others(151): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00733.hp2 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0008a0001c0009a0001c0010others(21): Show | a0001c0008t0004a0001c0008t0017a0001c0008t0031others(35): Show | a0001c0008t0004g0066a0001c0008t0017g0050a0001c0008t0031g0034others(45): Show | 48 | 160 | 0.3000 | -158 | c.170 others(19): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 1/18 | chr5 | TogoVar | ||||||
| MTA3_chr2_42563632_42761946 | 42584999 | TCGGCTCA others(151): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 312 | 0.0032 | -158 | c.190 others(17): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085800 | CGTGGCCC others(151): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG04199.hp1 |
a0003a0092 | a0003c0004a0092c0062 | a0003c0004t0002a0092c0062t0002 | a0003c0004t0002g0110a0092c0062t0002g0175 | 2 | 403 | 0.0050 | -158 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085816 | CGTGATCT others(151): Show |
C | intron_variant | MODIFIER | NA18965.hp1 NA18983.hp1 NA18987.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0188a0001c0003t0001g0251a0001c0003t0004g0252 | 3 | 403 | 0.0074 | -158 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2086056 | GTGATCTC others(151): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG02647.hp1 others(3): Show |
a0001a0002a0015others(2): Show | a0001c0020a0002c0096a0015c0197others(2): Show | a0001c0020t0001a0002c0096t0001a0015c0197t0001others(2): Show | a0001c0020t0001g0052a0002c0096t0001g0209a0015c0197t0001g0051others(2): Show | 6 | 403 | 0.0149 | -158 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYT1L_chr2_1784113_2336275 | 2035131 | AACAATCT others(151): Show |
A | intron_variant | MODIFIER | HG03486.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0079a0001c0001t0021g0053 | 2 | 104 | 0.0192 | -158 | c.-15 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
| MYZAP_chr15_57586904_57690364 | 57687494 | TATATATG others(151): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00673.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0161a0001c0001t0001g0174others(12): Show | 15 | 352 | 0.0426 | -158 | c.*29 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2131 | chr15 | TogoVar | ||||||
| MYZAP_chr15_57586904_57690364 | 57688283 | TTATGTGT others(151): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01516.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0162a0001c0001t0001g0187a0001c0001t0002g0305others(5): Show | 8 | 352 | 0.0227 | -158 | c.*37 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2920 | chr15 | TogoVar | ||||||
| NTM_chr11_131365615_132341822 | 131789478 | GAAGAAGA others(151): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 86 | 0.0116 | -158 | c.83- others(19): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NUMBL_chr19_40660905_40695651 | 40670430 | CAGAGAAG others(151): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0285 | 1 | 414 | 0.0024 | -158 | c.103 others(17): Show |
NUMBL | ENSG00000105245.9 | transcript | ENST00000252891.8 | protein_coding | 8/9 | chr19 | TogoVar | ||||||
| NXNL1_chr19_17450425_17465926 | 17463800 | GGAGAAGG others(151): Show |
G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01109.hp2 HG01123.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003a0003c0003t0006 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0017others(11): Show | 21 | 408 | 0.0515 | -158 | c.-30 others(11): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2875 | chr19 | TogoVar | ||||||
| PDZRN4_chr12_41183320_41579745 | 41402302 | CACAGTGT others(151): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03704.hp1 NA19240.hp1 |
a0004a0005 | a0004c0003a0005c0008 | a0004c0003t0002a0005c0008t0001 | a0004c0003t0002g0058a0005c0008t0001g0203a0005c0008t0001g0204 | 3 | 206 | 0.0146 | -158 | c.844 others(21): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | chr12 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 976843 | CCAACCCC others(151): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0078 | 1 | 408 | 0.0025 | -158 | c.215 others(17): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PIP4K2A_chr10_22529854_22719578 | 22664074 | TACGTATA others(151): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0128a0001c0002t0001g0062a0001c0002t0002g0053 | 3 | 206 | 0.0146 | -158 | c.144 others(19): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| PLCXD1_chrX_276381_308356 | 280937 | AGGGGAGG others(151): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0103 | a0001c0001t0005g0038a0001c0001t0103g0037 | 2 | 176 | 0.0114 | -158 | c.-76 others(9): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 443 | chrX | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 976843 | CCAACCCC others(151): Show |
C | downstream_gene_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0005 | a0003c0005t0008 | a0003c0005t0008g0078 | 1 | 422 | 0.0024 | -158 | c.*22 others(11): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 979 | chr1 | TogoVar | ||||||
| PLGRKT_chr9_5352971_5442925 | 5441973 | CGTGTGTA others(151): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0385 | 1 | 414 | 0.0024 | -158 | c.-44 others(11): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 4049 | chr9 | TogoVar | ||||||
| PLXDC2_chr10_19811432_20294856 | 20126483 | AACACACA others(151): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0105 | 1 | 180 | 0.0056 | -158 | c.542 others(19): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PPP2R5C_chr14_101756709_101932977 | 101782390 | GGCTCTTT others(151): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0015a0002c0002t0001others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0022others(23): Show | 26 | 138 | 0.1884 | -158 | c.94- others(15): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | chr14 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50339278 | GGGTGTGT others(151): Show |
G | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02809.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0086a0001c0002t0009g0087 | 2 | 340 | 0.0059 | -158 | c.-44 others(11): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 4048 | chr22 | TogoVar | ||||||
| RBBP8NL_chr20_62405237_62432539 | 62417665 | CCCCCCCA others(151): Show |
C | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 432 | 0.0023 | -158 | c.105 others(15): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3/13 | chr20 | TogoVar | ||||||
| RBM26_chr13_79313868_79411255 | 79372901 | CTTATATA others(151): Show |
C | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0174 | 1 | 328 | 0.0031 | -158 | c.328 others(16): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 3/21 | chr13 | TogoVar | ||||||
| RGPD3_chr2_106398406_106473413 | 106466564 | GCGCCTCA others(151): Show |
G | intron_variant | MODIFIER | NA18945.hp2 NA18993.hp1 NA19079.hp2 others(1): Show |
a0001a0039 | a0001c0001a0039c0039 | a0001c0001t0003a0039c0039t0003 | a0001c0001t0003g0034a0001c0001t0003g0035a0001c0001t0003g0098others(1): Show | 4 | 382 | 0.0105 | -158 | c.72+ others(15): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RIBC2_chr22_45408693_45437509 | 45423945 | ATGATGAT others(151): Show |
A | intron_variant | MODIFIER | NA18995.hp1 NA19079.hp1 |
a0003 | a0003c0003a0003c0009 | a0003c0003t0003a0003c0009t0003 | a0003c0003t0003g0110a0003c0009t0003g0109 | 2 | 424 | 0.0047 | -158 | c.675 others(17): Show |
RIBC2 | ENSG00000128408.9 | transcript | ENST00000614167.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| RIMS1_chr6_71881550_72408145 | 72152981 | GTATATAT others(151): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01243.hp2 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0016 | a0001c0003t0004g0052a0001c0003t0016g0091 | 2 | 140 | 0.0143 | -158 | c.472 others(19): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 304951 | GGGGGACA others(151): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02622.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(4): Show | a0001c0001t0001g0104a0001c0001t0005g0132a0001c0001t0017g0070others(5): Show | 8 | 133 | 0.0602 | -158 | c.351 others(19): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 260171 | CCCGTCAG others(151): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 | 1 | 266 | 0.0038 | -158 | c.*37 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3090 | chr5 | TogoVar | ||||||
| SFTPB_chr2_85652314_85673199 | 85666233 | GTGTGTGT others(151): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp2 HG01361.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0020a0001c0001t0014g0202 | 4 | 426 | 0.0094 | -158 | c.393 others(15): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
| SH3TC2_chr5_148977150_149068062 | 149021870 | TTCACAAA others(151): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(189): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0005a0001c0007others(27): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0008others(134): Show | a0001c0002t0003g0002a0001c0002t0003g0007a0001c0002t0003g0053others(164): Show | 192 | 326 | 0.5890 | -158 | c.305 others(19): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 12/16 | chr5 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 411639 | GGGTGCCC others(151): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0017 | 2 | 242 | 0.0083 | -158 | c.-15 others(19): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1072594 | CAGCCCCC others(151): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 118 | 0.0085 | -158 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar |