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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALNT4_chr11_364499_387117 | 374842 | G | GAGGGAGG others(1048): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0104 | 1 | 136 | 0.0074 | 1055 | c.784 others(1070): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181908 | T | TCACACAC others(1048): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 421 | 0.0024 | 1055 | c.193 others(1072): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647332 | A | ACCCCTAC others(1048): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 182 | 0.0055 | 1055 | c.*51 others(1066): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1988 | chr15 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(1048): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0069 | 1 | 97 | 0.0103 | 1055 | c.923 others(1074): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438432 | A | AGGAGGAG others(1048): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0009 | a0009c0142 | a0009c0142t0001 | a0009c0142t0001g0036 | 1 | 239 | 0.0042 | 1055 | c.118 others(1074): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(1048): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0065 | a0001c0065t0014 | a0001c0065t0014g0084 | 1 | 68 | 0.0147 | 1055 | c.323 others(1074): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCTCCACC others(1048): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01981.hp1 HG01993.hp2 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0031a0002c0005others(9): Show | a0001c0002t0001a0001c0031t0006a0002c0005t0001others(9): Show | a0001c0002t0001g0090 a0001c0031t0006g0127 a0002c0005t0001g0191 others(10): Show |
13 | 80 | 0.1625 | 1055 | c.323 others(1074): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1048): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0271 | 1 | 229 | 0.0044 | 1055 | c.228 others(1072): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1048): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0006 | a0006c0067 | a0006c0067t0001 | a0006c0067t0001g0273 | 1 | 229 | 0.0044 | 1055 | c.228 others(1072): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1048): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0251 | 1 | 229 | 0.0044 | 1055 | c.228 others(1072): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1048): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02132.hp2 HG02735.hp1 others(6): Show |
a0003a0006a0012 | a0003c0006a0003c0013a0003c0069others(3): Show | a0003c0006t0002a0003c0013t0002a0003c0069t0002others(3): Show | a0003c0006t0002g0257 a0003c0006t0002g0260 a0003c0006t0002g0261 others(6): Show |
9 | 237 | 0.0380 | 1055 | c.228 others(1072): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1048): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0045 | 1 | 289 | 0.0035 | 1055 | c.-49 others(1066): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1048): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 HG02148.hp2 HG03490.hp1 others(1): Show |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0003a0003c0001t0002 | a0002c0003t0003g0037 a0003c0001t0002g0027 a0003c0001t0002g0028 others(1): Show |
4 | 292 | 0.0137 | 1055 | c.-49 others(1066): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1048): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG02132.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0059others(4): Show | a0001c0002t0002a0001c0002t0003a0001c0004t0001others(6): Show | a0001c0002t0002g0060 a0001c0002t0003g0057 a0001c0004t0001g0007 others(10): Show |
13 | 301 | 0.0432 | 1055 | c.-49 others(1066): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1048): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 132 | 0.0076 | 1055 | c.94- others(1068): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCCACTTA others(1048): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 63 | 0.0159 | 1055 | c.105 others(1072): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055108 | A | AGAGGGAT others(1048): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01952.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0191 a0002c0003t0002g0225 |
2 | 218 | 0.0092 | 1055 | c.193 others(1074): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(1048): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01433.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0111 a0001c0002t0002g0070 a0001c0002t0002g0109 others(1): Show |
4 | 67 | 0.0597 | 1055 | c.225 others(1072): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1048): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19030.hp1 NA19043.hp2 others(1): Show |
a0004a0037a0058others(1): Show | a0004c0090a0037c0091a0058c0057others(1): Show | a0004c0090t0001a0037c0091t0001a0058c0057t0001others(1): Show | a0004c0090t0001g0018 a0037c0091t0001g0082 a0058c0057t0001g0077 others(1): Show |
4 | 105 | 0.0381 | 1055 | c.252 others(1074): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1048): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 67 | 0.0149 | 1055 | c.306 others(1074): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1048): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 195 | 0.0051 | 1055 | c.347 others(1070): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1048): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0228 |
2 | 196 | 0.0102 | 1055 | c.347 others(1070): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(1048): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0183 | 1 | 42 | 0.0238 | 1055 | c.916 others(1072): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(1048): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0007 | a0007c0033 | a0007c0033t0003 | a0007c0033t0003g0304 | 1 | 42 | 0.0238 | 1055 | c.916 others(1072): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(1048): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 166 | 0.0060 | 1055 | c.115 others(1072): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1048): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03516.hp1 |
a0001 | a0001c0004a0001c0009 | a0001c0004t0003a0001c0009t0003 | a0001c0004t0003g0297 a0001c0009t0003g0299 |
2 | 150 | 0.0133 | 1055 | c.129 others(1072): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1048): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0300 | 1 | 149 | 0.0067 | 1055 | c.129 others(1072): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(1049): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 82 | 0.0122 | 1056 | c.106 others(1075): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980100 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0258 | 1 | 215 | 0.0047 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980100 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19085.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0197 a0001c0003t0002g0214 |
2 | 216 | 0.0093 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0194 | 1 | 254 | 0.0039 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0266 | 1 | 254 | 0.0039 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980133 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0171 | 1 | 254 | 0.0039 | 1056 | c.604 others(1072): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980199 | C | GTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0138 | 1 | 253 | 0.0040 | 1056 | c.604 others(1072): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980232 | C | GTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0237 | 1 | 211 | 0.0047 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980232 | C | GTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01934.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0071 a0001c0002t0002g0155 a0001c0002t0002g0163 others(3): Show |
6 | 216 | 0.0278 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 980298 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0208 | 1 | 152 | 0.0066 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980298 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0211 others(3): Show |
6 | 157 | 0.0382 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980298 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0134 | 1 | 152 | 0.0066 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980298 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18971.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0207 a0001c0003t0002g0221 |
2 | 153 | 0.0131 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980298 | C | CTGCCCGG others(1049): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0198 | 1 | 152 | 0.0066 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980397 | G | GTGCCCGG others(1049): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0247 | 1 | 125 | 0.0080 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980397 | G | GTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19240.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0195 a0001c0004t0002g0196 |
2 | 126 | 0.0159 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980397 | G | GTGCCCGG others(1049): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG02040.hp2 others(5): Show |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0002a0005c0011t0002 | a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0243 others(5): Show |
8 | 132 | 0.0606 | 1056 | c.604 others(1071): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687192 | C | CCCCGTGA others(1049): Show |
upstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 211 | 0.0047 | 1056 | c.-15 others(1067): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1347 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(1049): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 146 | 0.0068 | 1056 | c.-18 others(1067): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1049): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 76 | 0.0132 | 1056 | c.955 others(1073): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1049): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 10 | 0.1000 | 1056 | c.327 others(1073): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 405026 | A | AGGGGGGG others(1049): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0003 | a0002c0003t0036 | a0002c0003t0036g0119 | 1 | 94 | 0.0106 | 1056 | c.*20 others(1067): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 418 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 405026 | A | AGGGGGGG others(1049): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0127 | 1 | 94 | 0.0106 | 1056 | c.*20 others(1067): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 418 | chr19 | TogoVar |