| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZNF57_chr19_2895928_2923473 | 2909320 | GCCCAGGC others(1173): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(86): Show |
a0001a0004a0013 | a0001c0002a0001c0003a0001c0015others(2): Show | a0001c0002t0001a0001c0002t0008a0001c0003t0004others(4): Show | a0001c0002t0001g0011a0001c0002t0001g0012a0001c0002t0001g0020others(71): Show | 89 | 398 | 0.2236 | -1180 | c.4-6 others(13): Show |
ZNF57 | ENSG00000171970.14 | transcript | ENST00000306908.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF57_chr19_2895928_2923473 | 2909409 | TAGCTGGG others(1173): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0238 | 1 | 398 | 0.0025 | -1180 | c.4-6 others(13): Show |
ZNF57 | ENSG00000171970.14 | transcript | ENST00000306908.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ATP6V1B2_chr8_20192381_20226696 | 20224308 | AAGAAACT others(1172): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0154a0001c0001t0006g0156 | 2 | 402 | 0.0050 | -1179 | c.*39 others(11): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 2613 | chr8 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12622054 | GGAAGGAA others(1172): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 174 | 0.0058 | -1179 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ZNF57_chr19_2895928_2923473 | 2909390 | CCTGCCTC others(1172): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234 | 1 | 398 | 0.0025 | -1179 | c.4-6 others(13): Show |
ZNF57 | ENSG00000171970.14 | transcript | ENST00000306908.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 357764 | AGGAAGAG others(1171): Show |
A | intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0008 | 1 | 268 | 0.0037 | -1178 | c.244 others(17): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137565722 | TCTGTCTG others(1171): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0259a0001c0001t0002g0260others(5): Show | 9 | 340 | 0.0265 | -1178 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565774 | GGGGTGAC others(1171): Show |
G | intron_variant | MODIFIER | HG02738.hp2 HG03927.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227a0001c0001t0001g0228a0001c0001t0001g0229 | 3 | 340 | 0.0088 | -1178 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| RIC1_chr9_5624107_5781557 | 5641632 | TGACTATA others(1171): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG00741.hp1 others(33): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0005g0004a0001c0001t0005g0021a0001c0001t0005g0022others(33): Show | 36 | 328 | 0.1098 | -1178 | c.144 others(19): Show |
RIC1 | ENSG00000107036.12 | transcript | ENST00000414202.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168572109 | TTTCCTCC others(1171): Show |
T | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 180 | 0.0056 | -1178 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61943664 | GTCTGCAC others(1170): Show |
G | downstream_gene_variant | MODIFIER | NA19030.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0006a0001c0001t0011g0033 | 2 | 106 | 0.0189 | -1177 | c.*67 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3048 | chr20 | TogoVar | ||||||
| CEBPD_chr8_47731913_47743164 | 47733488 | AATTGCAT others(1170): Show |
A | downstream_gene_variant | MODIFIER | HG02602.hp1 HG03225.hp1 HG03453.hp2 |
a0001 | a0001c0006a0001c0007 | a0001c0006t0001a0001c0007t0001 | a0001c0006t0001g0000a0001c0007t0001g0000 | 3 | 316 | 0.0095 | -1177 | c.*26 others(11): Show |
CEBPD | ENSG00000221869.5 | transcript | ENST00000408965.4 | protein_coding | 3424 | chr8 | TogoVar | ||||||
| HSD17B14_chr19_48808018_48841491 | 48834468 | GGGTCTGA others(1170): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0030 | 1 | 394 | 0.0025 | -1177 | c.127 others(15): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| PDE10A_chr6_165322289_165668241 | 165494880 | CAACACTA others(1170): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0129 | 1 | 222 | 0.0045 | -1177 | c.995 others(19): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
| PLEKHA4_chr19_48832097_48873617 | 48834468 | GGGTCTGA others(1170): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 300 | 0.0033 | -1177 | c.*16 others(11): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2628 | chr19 | TogoVar | ||||||
| SPIDR_chr8_47255938_47741306 | 47733488 | AATTGCAT others(1170): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG03225.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0003others(1): Show | 4 | 216 | 0.0185 | -1177 | c.260 others(18): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| TAF4_chr20_61969798_62070881 | 62057603 | CCAGCAAG others(1170): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0065a0001c0003t0001g0053a0001c0003t0001g0054others(2): Show | 5 | 314 | 0.0159 | -1177 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393521 | CAGGTGGT others(1170): Show |
C | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 | 1 | 346 | 0.0029 | -1177 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159434202 | CCAGGCTG others(1169): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0084 | 2 | 216 | 0.0093 | -1176 | c.129 others(18): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 8/36 | chr2 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565308 | ACTGTCTG others(1169): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 340 | 0.0029 | -1176 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12621980 | AAGAAAGA others(1169): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01081.hp1 others(10): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0063a0001c0001t0001g0090a0001c0001t0002g0094others(10): Show | 13 | 174 | 0.0747 | -1176 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12622027 | GAAGGAAG others(1169): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG04228.hp1 NA18747.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0011a0001c0001t0002g0100a0001c0002t0001g0076others(2): Show | 5 | 174 | 0.0287 | -1176 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1991000 | CGAGCACC others(1169): Show |
C | intron_variant | MODIFIER | HG01433.hp1 NA18981.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0053a0002c0002t0002g0002 | 2 | 264 | 0.0076 | -1176 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| SLURP2_chr8_142759338_142774828 | 142759925 | GTCACGCA others(1169): Show |
G | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 446 | 0.0022 | -1176 | c.*35 others(11): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 4412 | chr8 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245975753 | GGCCCAGG others(1169): Show |
G | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 150 | 0.0067 | -1176 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 322120 | GGGGCTCC others(1168): Show |
G | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0065 | 1 | 88 | 0.0114 | -1175 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12621982 | GAAAGAAA others(1168): Show |
G | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 174 | 0.0058 | -1175 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | chrX | TogoVar | ||||||
| SKP2_chr5_36147111_36189319 | 36174917 | GATGGCCA others(1168): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0102 | 1 | 402 | 0.0025 | -1175 | c.902 others(16): Show |
SKP2 | ENSG00000145604.17 | transcript | ENST00000274255.11 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
| CHD8_chr14_21380199_21461123 | 21452864 | GTCCCAGC others(1167): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0236a0001c0001t0001g0237a0001c0001t0001g0238others(1): Show | 4 | 260 | 0.0154 | -1174 | c.-21 others(19): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
| SLC16A9_chr10_59645764_59714850 | 59691181 | CGTTTTGG others(1167): Show |
C | intron_variant | MODIFIER | NA18982.hp1 NA18994.hp2 NA18995.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0014others(1): Show | a0001c0001t0003g0121a0001c0001t0003g0122a0001c0001t0008g0117others(2): Show | 5 | 352 | 0.0142 | -1174 | c.-36 others(17): Show |
SLC16A9 | ENSG00000165449.12 | transcript | ENST00000395348.8 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
| DCAF6_chr1_167931683_168080836 | 168055321 | TCAGGCTT others(1166): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(145): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(145): Show | 148 | 266 | 0.5564 | -1173 | c.230 others(19): Show |
DCAF6 | ENSG00000143164.16 | transcript | ENST00000367840.4 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SDF2L1_chr22_21637302_21649299 | 21645017 | GTGATCTG others(1166): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp2 HG02976.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 4 | 430 | 0.0093 | -1173 | c.*84 others(10): Show |
SDF2L1 | ENSG00000128228.5 | transcript | ENST00000248958.5 | protein_coding | 719 | chr22 | TogoVar | ||||||
| TAF1B_chr2_9838474_9939416 | 9936495 | AATCACCT others(1166): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02717.hp2 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0341a0005c0007t0001g0342 | 2 | 374 | 0.0054 | -1173 | c.*25 others(11): Show |
TAF1B | ENSG00000115750.17 | transcript | ENST00000263663.10 | protein_coding | 2080 | chr2 | TogoVar | ||||||
| CA10_chr17_51625320_52163714 | 51820574 | TTTCCACT others(1165): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077a0001c0001t0002g0078 | 2 | 156 | 0.0128 | -1172 | c.280 others(19): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
| DHRS12_chr13_51762993_51809163 | 51774680 | TCTACAGT others(1165): Show |
T | intron_variant | MODIFIER | HG03139.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0076a0001c0001t0004g0064 | 2 | 420 | 0.0048 | -1172 | c.363 others(16): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| FBXL12_chr19_9805270_9824079 | 9819398 | GGGGCTGG others(1165): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0082 | 2 | 338 | 0.0059 | -1172 | c.-17 others(10): Show |
FBXL12 | ENSG00000127452.9 | transcript | ENST00000247977.9 | protein_coding | 320 | chr19 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12621984 | AAGAAAGA others(1165): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01261.hp1 HG02071.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0043a0001c0001t0002g0096a0001c0002t0001g0123others(2): Show | 5 | 174 | 0.0287 | -1172 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12622031 | GAAGGAAG others(1165): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 174 | 0.0058 | -1172 | c.422 others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SERPINF2_chr17_1737871_1760265 | 1740464 | GACAGTGA others(1165): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01928.hp2 others(20): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004a0003c0003t0010 | a0003c0003t0001g0003a0003c0003t0001g0007a0003c0003t0001g0015others(15): Show | 23 | 445 | 0.0517 | -1172 | c.-24 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2406 | chr17 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1740464 | GACAGTGA others(1165): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00609.hp2 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0017a0002c0050others(2): Show | a0001c0003t0001a0001c0017t0001a0002c0050t0001others(2): Show | a0001c0003t0001g0003a0001c0003t0001g0029a0001c0003t0001g0034others(7): Show | 31 | 431 | 0.0719 | -1172 | c.*27 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1880 | chr17 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805198 | TGCAGGCC others(1164): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 314 | 0.0032 | -1171 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 912 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805198 | TGCAGGCC others(1164): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0153 | 1 | 319 | 0.0031 | -1171 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3994 | chr2 | TogoVar | ||||||
| SPATA17_chr1_217626344_217876696 | 217654879 | ATTTTTGT others(1164): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0247 | 1 | 252 | 0.0040 | -1171 | c.240 others(17): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SPC24_chr19_11140493_11160782 | 11158328 | CAAAATTA others(1164): Show |
C | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0171 | a0002c0002t0171g0190 | 1 | 438 | 0.0023 | -1171 | c.-37 others(11): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 2547 | chr19 | TogoVar | ||||||
| TMEM70_chr8_73971195_73987783 | 73986612 | GCTGGACT others(1164): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0011 | 3 | 402 | 0.0075 | -1171 | c.*49 others(11): Show |
TMEM70 | ENSG00000175606.11 | transcript | ENST00000312184.6 | protein_coding | 3830 | chr8 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077283 | TCTATGGG others(1163): Show |
T | downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 326 | 0.0031 | -1170 | c.*44 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4539 | chr1 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240977411 | TCTCTGGG others(1163): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01981.hp2 others(7): Show |
a0001a0007 | a0001c0001a0001c0067a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0067t0002others(1): Show | a0001c0001t0001g0156a0001c0001t0002g0247a0001c0001t0002g0273others(7): Show | 10 | 350 | 0.0286 | -1170 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DACT2_chr6_168301904_168324777 | 168316334 | GTGCAAAC others(1163): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01069.hp2 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0064a0001c0001t0001g0213others(19): Show | 35 | 476 | 0.0735 | -1170 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316357 | AGCAGCAC others(1163): Show |
A | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 476 | 0.0021 | -1170 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| RAPGEF6_chr5_131418921_131640229 | 131595606 | GCACCACA others(1163): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0171 | 1 | 324 | 0.0031 | -1170 | c.198 others(17): Show |
RAPGEF6 | ENSG00000158987.22 | transcript | ENST00000509018.6 | protein_coding | 3/27 | chr5 | TogoVar |