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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1023): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0191 |
2 | 9 | 0.2222 | 1030 | c.285 others(1049): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1023): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0168 | 1 | 8 | 0.1250 | 1030 | c.285 others(1049): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1023): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 8 | 0.1250 | 1030 | c.285 others(1049): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1023): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 8 | 0.1250 | 1030 | c.285 others(1049): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1023): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0001g0204 |
3 | 10 | 0.3000 | 1030 | c.285 others(1049): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1023): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02273.hp1 NA18941.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0166 others(2): Show |
5 | 12 | 0.4167 | 1030 | c.285 others(1049): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1023): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 8 | 0.1250 | 1030 | c.285 others(1049): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1023): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 8 | 0.1250 | 1030 | c.285 others(1049): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1023): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 a0001c0001t0001g0233 |
2 | 9 | 0.2222 | 1030 | c.285 others(1049): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112845699 | G | GCCGGCAC others(1023): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03195.hp1 NA18906.hp2 |
a0001a0004 | a0001c0009a0004c0027 | a0001c0009t0003a0001c0009t0050a0004c0027t0074 | a0001c0009t0003g0218 a0001c0009t0050g0045 a0004c0027t0074g0155 |
3 | 234 | 0.0128 | 1030 | c.180 others(1049): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82968435 | A | AGCAACAG others(1023): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0135 a0001c0002t0016g0136 |
2 | 263 | 0.0076 | 1030 | c.460 others(1047): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82968435 | A | AGCAACAG others(1023): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0012 | 1 | 262 | 0.0038 | 1030 | c.460 others(1047): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2407706 | C | CTCATCAT others(1023): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0070 | 1 | 93 | 0.0108 | 1030 | c.478 others(1049): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(1023): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0047 | 1 | 154 | 0.0065 | 1030 | c.276 others(1045): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAT others(1023): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 316 | 0.0032 | 1030 | c.193 others(1047): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650785 | T | TGTGACTG others(1023): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0015 | 1 | 79 | 0.0127 | 1030 | c.177 others(1049): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1023): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0215 | 1 | 8 | 0.1250 | 1030 | c.328 others(1047): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1023): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0081 | a0002c0081t0001 | a0002c0081t0001g0196 | 1 | 8 | 0.1250 | 1030 | c.328 others(1047): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1023): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0148 | 1 | 8 | 0.1250 | 1030 | c.328 others(1047): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1023): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0152 | 1 | 8 | 0.1250 | 1030 | c.328 others(1047): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1023): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0035 | a0035c0091 | a0035c0091t0004 | a0035c0091t0004g0024 | 1 | 8 | 0.1250 | 1030 | c.328 others(1047): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1023): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0017 | 1 | 8 | 0.1250 | 1030 | c.328 others(1047): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(1023): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 78 | 0.0128 | 1030 | c.183 others(1049): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619524 | T | TGCTCCCC others(1023): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 219 | 0.0046 | 1030 | c.-10 others(1049): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1023): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0006 | a0006c0071 | a0006c0071t0001 | a0006c0071t0001g0236 | 1 | 229 | 0.0044 | 1030 | c.228 others(1047): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1023): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0004 | a0004c0020 | a0004c0020t0004 | a0004c0020t0004g0072 | 1 | 289 | 0.0035 | 1030 | c.-49 others(1041): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1023): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0010 | a0010c0036 | a0010c0036t0006 | a0010c0036t0006g0066 | 1 | 289 | 0.0035 | 1030 | c.-49 others(1041): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1023): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 137 | 0.0073 | 1030 | c.-14 others(1049): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1023): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0042 a0001c0006t0001g0043 a0001c0006t0001g0060 |
3 | 139 | 0.0216 | 1030 | c.-14 others(1049): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1023): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG02809.hp1 others(2): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0008 | a0001c0001t0001a0001c0002t0002a0007c0008t0002 | a0001c0001t0001g0345 a0001c0002t0002g0341 a0001c0002t0002g0342 others(2): Show |
5 | 141 | 0.0355 | 1030 | c.-14 others(1049): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315730 | G | GACACAGA others(1023): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0087 | 1 | 68 | 0.0147 | 1030 | c.488 others(1045): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315730 | G | GACACAGA others(1023): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0008 | 2 | 69 | 0.0290 | 1030 | c.488 others(1045): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1023): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0084 | 1 | 46 | 0.0217 | 1030 | c.487 others(1045): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1023): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01361.hp1 others(2): Show |
a0002a0003 | a0002c0005a0003c0004a0003c0034 | a0002c0005t0002a0003c0004t0002a0003c0034t0002 | a0002c0005t0002g0008 a0003c0004t0002g0089 a0003c0004t0002g0093 others(1): Show |
5 | 50 | 0.1000 | 1030 | c.487 others(1045): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1023): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0087 | 1 | 46 | 0.0217 | 1030 | c.487 others(1045): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44417614 | A | AAAATAAA others(1023): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02818.hp1 HG03139.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 others(5): Show |
8 | 73 | 0.1096 | 1030 | c.961 others(1049): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44417614 | A | AAAATAAA others(1023): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01074.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0118 a0001c0001t0001g0119 others(18): Show |
21 | 86 | 0.2442 | 1030 | c.961 others(1049): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44417614 | A | AAAATAAA others(1023): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 66 | 0.0152 | 1030 | c.961 others(1049): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44417614 | A | AAAATAAA others(1023): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0050 others(185): Show |
188 | 253 | 0.7431 | 1030 | c.961 others(1049): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44417614 | A | AAAATAAA others(1023): Show |
intron_variant | MODIFIER | HG02922.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0266 a0001c0001t0002g0137 |
2 | 67 | 0.0299 | 1030 | c.961 others(1049): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44417614 | A | AAAATAAA others(1023): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02572.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0143 a0001c0001t0001g0239 a0001c0001t0002g0138 others(6): Show |
9 | 74 | 0.1216 | 1030 | c.961 others(1049): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(1023): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 207 | 0.0048 | 1030 | c.624 others(1047): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953580 | C | CACCCACC others(1023): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0060 | 1 | 226 | 0.0044 | 1030 | c.503 others(1045): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1023): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 170 | 0.0059 | 1030 | c.-30 others(1041): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(1023): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 8 | 0.1250 | 1030 | c.641 others(1045): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(1023): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 8 | 0.1250 | 1030 | c.641 others(1045): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MPG_chr16_73225_90846 | 82247 | G | GCTCCCCA others(1023): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0194 |
2 | 136 | 0.0147 | 1030 | c.301 others(1045): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1023): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0143 | 1 | 210 | 0.0048 | 1030 | c.-5+ others(1045): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82247 | G | GCTCCCCA others(1023): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 114 | 0.0088 | 1030 | c.*44 others(1041): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3138 | chr16 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133354205 | G | GTGGTGGT others(1023): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 | 1 | 55 | 0.0182 | 1030 | c.61+ others(1049): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar |