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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(1063): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 | 1 | 64 | 0.0156 | 1070 | c.225 others(1087): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1063): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02809.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(2): Show |
5 | 120 | 0.0417 | 1070 | c.310 others(1087): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73294866 | T | TGCACTTT others(1063): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 116 | 0.0086 | 1070 | c.310 others(1087): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 7/12 | chr14 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAC others(1063): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 278 | 0.0036 | 1070 | c.-15 others(1081): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1063): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0011 | 1 | 82 | 0.0122 | 1070 | c.147 others(1087): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114044353 | A | AGCCCCCC others(1063): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 64 | 0.0156 | 1070 | c.278 others(1087): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1063): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 39 | 0.0256 | 1070 | c.115 others(1087): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1063): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 28 | 0.0357 | 1070 | c.-50 others(1081): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1063): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 28 | 0.0357 | 1070 | c.-50 others(1081): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870451 | A | ACACCCCA others(1063): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 323 | 0.0031 | 1070 | c.*35 others(1089): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1064): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02717.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0003 | a0002c0003t0002g0054 a0002c0003t0003g0021 a0002c0003t0003g0051 others(2): Show |
6 | 202 | 0.0297 | 1071 | c.578 others(1084): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1064): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 3 | 0.3333 | 1071 | c.787 others(1086): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1064): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 3 | 0.3333 | 1071 | c.787 others(1086): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3654114 | A | ATCCTCAC others(1064): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0021 | 1 | 277 | 0.0036 | 1071 | c.-52 others(1088): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654681 | A | ATCCTCAC others(1064): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0115 | 1 | 339 | 0.0029 | 1071 | c.-52 others(1088): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1064): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01978.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0064 |
2 | 11 | 0.1818 | 1071 | c.327 others(1088): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1064): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 10 | 0.1000 | 1071 | c.327 others(1088): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1064): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0010 a0001c0002t0005g0011 |
2 | 11 | 0.1818 | 1071 | c.327 others(1088): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1064): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 10 | 0.1000 | 1071 | c.327 others(1088): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650785 | T | TGTGACTG others(1064): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0016 |
3 | 81 | 0.0370 | 1071 | c.177 others(1090): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650785 | T | TGTGACTG others(1064): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 79 | 0.0127 | 1071 | c.177 others(1090): 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(1064): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0050 | 1 | 8 | 0.1250 | 1071 | c.328 others(1088): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1064): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG00735.hp2 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0115 others(33): Show |
36 | 48 | 0.7500 | 1071 | c.109 others(1090): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1064): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0187 | 1 | 13 | 0.0769 | 1071 | c.109 others(1090): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1064): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18970.hp1 NA19004.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0003a0001c0002t0055others(1): Show | a0001c0001t0005g0155 a0001c0002t0003g0154 a0001c0002t0055g0152 others(1): Show |
4 | 16 | 0.2500 | 1071 | c.109 others(1090): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1064): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 220 | 0.0045 | 1071 | c.*51 others(1082): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471354 | G | GTATATAT others(1064): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0131 | 1 | 131 | 0.0076 | 1071 | c.183 others(1090): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471354 | G | GTATATAT others(1064): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0005 | a0002c0005t0011 | a0002c0005t0011g0062 | 1 | 131 | 0.0076 | 1071 | c.183 others(1090): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1064): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18952.hp2 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0204 |
3 | 134 | 0.0224 | 1071 | c.94- others(1084): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1064): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 132 | 0.0076 | 1071 | c.94- others(1084): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055118 | A | AGTTGGAT others(1064): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 212 | 0.0047 | 1071 | c.193 others(1090): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953651 | A | ACACCCAC others(1064): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 179 | 0.0056 | 1071 | c.503 others(1086): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1064): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02129.hp1 NA18977.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0006a0001c0001t0021a0001c0008t0024 | a0001c0001t0006g0081 a0001c0001t0021g0003 a0001c0008t0024g0107 |
3 | 47 | 0.0638 | 1071 | c.648 others(1090): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(1064): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 213 | 0.0047 | 1071 | c.250 others(1086): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811297 | C | CTCCCTTC others(1064): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0119 | 1 | 131 | 0.0076 | 1071 | c.773 others(1086): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1064): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0131 | 1 | 67 | 0.0149 | 1071 | c.306 others(1090): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1064): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 2 | 0.5000 | 1071 | c.438 others(1088): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118469531 | T | TATGATAT others(1064): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 167 | 0.0060 | 1071 | c.193 others(1090): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGGATGA others(1064): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0005 | a0005c0025 | a0005c0025t0001 | a0005c0025t0001g0041 | 1 | 95 | 0.0105 | 1071 | c.206 others(1090): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1064): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0008 | a0008c0012 | a0008c0012t0002 | a0008c0012t0002g0237 | 1 | 189 | 0.0053 | 1071 | c.440 others(1088): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376746 | G | GCCCCACC others(1064): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0250 | 1 | 315 | 0.0032 | 1071 | c.-77 others(1080): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 721 | chr19 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115660 | G | GGCGAAGG others(1064): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0404 | 1 | 403 | 0.0025 | 1071 | c.227 others(1090): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930549 | A | AGGAAGGC others(1064): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 463 | 0.0022 | 1071 | c.*50 others(1082): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4820 | chr11 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975544 | T | TATAAATA others(1065): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0163 | 1 | 160 | 0.0063 | 1072 | c.130 others(1091): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172068 | G | GGTGGGAT others(1065): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0104 | 1 | 309 | 0.0032 | 1072 | c.278 others(1091): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1119319 | C | CCCAGCGT others(1065): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03669.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0078a0001c0001t0083 | a0001c0001t0001g0215 a0001c0001t0078g0268 a0001c0001t0083g0331 |
3 | 302 | 0.0099 | 1072 | c.246 others(1089): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1065): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0056 | 1 | 197 | 0.0051 | 1072 | c.578 others(1085): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1065): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 197 | 0.0051 | 1072 | c.578 others(1085): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1065): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0138 | 1 | 3 | 0.3333 | 1072 | c.787 others(1087): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(1065): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19080.hp2 |
a0001 | a0001c0001a0001c0097 | a0001c0001t0015a0001c0097t0001 | a0001c0001t0015g0163 a0001c0097t0001g0111 |
2 | 267 | 0.0075 | 1072 | c.300 others(1089): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |