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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCPH1_chr8_6401627_6653508 | 6419173 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG02083.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0006 | 1 | 262 | 0.0038 | -17 | c.233 others(34): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
MCPH1_chr8_6401627_6653508 | 6576682 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(32): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0021a0001c0091others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(25): Show | a0001c0001t0001g0159 a0001c0001t0001g0183 a0001c0001t0001g0205 others(32): Show |
35 | 262 | 0.1336 | -17 | c.221 others(38): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6578462 | GAGTACAT others(10): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00735.hp2 others(61): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0007a0001c0021others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(51): Show | a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 others(61): Show |
64 | 262 | 0.2443 | -17 | c.221 others(38): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6623688 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01070.hp2 others(30): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0007a0002c0002others(16): Show | a0001c0001t0024a0001c0007t0001a0001c0007t0004others(26): Show | a0001c0001t0024g0260 a0001c0007t0001g0136 a0001c0007t0004g0135 others(30): Show |
33 | 262 | 0.1260 | -17 | c.245 others(36): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94912428 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0076 | 1 | 98 | 0.0102 | -17 | c.152 others(34): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 9/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95061408 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 98 | 0.0102 | -17 | c.721 others(36): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95201464 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0034 | 1 | 98 | 0.0102 | -17 | c.720 others(36): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94257566 | GTTGTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01358.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0084 a0001c0001t0002g0083 a0001c0001t0002g0087 others(3): Show |
6 | 276 | 0.0217 | -17 | c.-66 others(36): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94318272 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02258.hp1 others(12): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(10): Show | a0001c0001t0001g0074 a0001c0001t0001g0177 a0001c0001t0012g0123 others(12): Show |
15 | 276 | 0.0544 | -17 | c.637 others(34): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94467232 | TAGGCTAC others(10): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0275 | 1 | 276 | 0.0036 | -17 | c.236 others(36): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCUR1_chr6_13781557_13819557 | 13809263 | AACATTAT others(10): Show |
A | intron_variant | MODIFIER | NA18948.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0214 | 1 | 424 | 0.0024 | -17 | c.416 others(34): Show |
MCUR1 | ENSG00000050393.12 | transcript | ENST00000379170.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
MCU_chr10_72687143_72892694 | 72791472 | ATTCTCTT others(10): Show |
A | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 210 | 0.0048 | -17 | c.151 others(36): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MDGA1_chr6_37625679_37702883 | 37626617 | CTTTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02165.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0337 a0001c0001t0002g0357 a0001c0001t0004g0258 others(2): Show |
5 | 402 | 0.0124 | -17 | c.*10 others(30): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 4061 | chr6 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 46837480 | TCATTGAC others(10): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0014 | 1 | 120 | 0.0083 | -17 | c.*44 others(28): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 2611 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47161927 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0027 | 1 | 120 | 0.0083 | -17 | c.596 others(36): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 3/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47563578 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0061 | 1 | 120 | 0.0083 | -17 | c.280 others(38): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
MDH2_chr7_76043106_76072508 | 76046320 | GTGTGTGT others(10): Show |
G | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 398 | 0.0025 | -17 | c.-18 others(28): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 1785 | chr7 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89670154 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03927.hp2 | a0040 | a0040c0035 | a0040c0035t0002 | a0040c0035t0002g0073 | 1 | 290 | 0.0035 | -17 | c.139 others(36): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 83/101 | chr6 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89670156 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01069.hp1 others(5): Show |
a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0063 a0008c0010t0002g0064 a0008c0010t0002g0068 others(5): Show |
8 | 290 | 0.0276 | -17 | c.139 others(36): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 83/101 | chr6 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89670158 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03492.hp1 HG04115.hp1 HG04228.hp1 others(1): Show |
a0006a0008a0041others(1): Show | a0006c0004a0008c0010a0041c0038others(1): Show | a0006c0004t0002a0008c0010t0002a0041c0038t0002others(1): Show | a0006c0004t0002g0107 a0008c0010t0002g0074 a0041c0038t0002g0235 others(1): Show |
4 | 290 | 0.0138 | -17 | c.139 others(36): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 83/101 | chr6 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89670160 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01168.hp2 others(16): Show |
a0006a0019a0022others(1): Show | a0006c0004a0019c0021a0022c0023others(1): Show | a0006c0004t0002a0006c0004t0006a0019c0021t0002others(2): Show | a0006c0004t0002g0084 a0006c0004t0002g0103 a0006c0004t0002g0104 others(16): Show |
19 | 290 | 0.0655 | -17 | c.139 others(36): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 83/101 | chr6 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89670162 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02615.hp1 NA18906.hp2 |
a0017 | a0017c0018 | a0017c0018t0002a0017c0018t0014 | a0017c0018t0002g0076 a0017c0018t0014g0288 |
2 | 290 | 0.0069 | -17 | c.139 others(36): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 83/101 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83298931 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0094 a0001c0001t0001g0149 a0001c0001t0001g0150 others(2): Show |
5 | 272 | 0.0184 | -17 | c.704 others(36): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
ME2_chr18_50874118_50959257 | 50959166 | CTCCCTCC others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0326 | 1 | 342 | 0.0029 | -17 | c.*11 others(30): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 4910 | chr18 | TogoVar | |||||||
MEAK7_chr16_84471355_84509659 | 84490443 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02738.hp1 HG04184.hp2 NA19000.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0015a0002c0003t0062 | a0002c0003t0001g0123 a0002c0003t0015g0134 a0002c0003t0062g0147 |
3 | 468 | 0.0064 | -17 | c.385 others(34): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 3/7 | chr16 | TogoVar | |||||||
MEAK7_chr16_84471355_84509659 | 84509388 | ACCAGGAC others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(212): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(137): Show | a0001c0001t0001g0240 a0001c0001t0001g0268 a0001c0001t0001g0367 others(207): Show |
215 | 468 | 0.4594 | -17 | c.-48 others(28): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 4730 | chr16 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169370354 | CACCATAC others(10): Show |
C | intron_variant | MODIFIER | HG03471.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0031 a0001c0001t0006g0124 |
2 | 160 | 0.0125 | -17 | c.375 others(36): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169382857 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0079 | 1 | 160 | 0.0063 | -17 | c.38- others(32): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169661691 | CCTGCTGA others(10): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0148 | 1 | 160 | 0.0063 | -17 | c.37+ others(32): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151081352 | CCTTCCCT others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 280 | 0.0036 | -17 | c.-47 others(28): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 4311 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151106296 | TTTCCTTT others(10): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(69): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0111 a0001c0001t0002g0087 a0001c0001t0002g0125 others(69): Show |
72 | 280 | 0.2571 | -17 | c.100 others(36): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2/44 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151115327 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0107 | 1 | 280 | 0.0036 | -17 | c.100 others(32): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151152085 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0248 | 1 | 280 | 0.0036 | -17 | c.557 others(34): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151162324 | GACTTGAC others(10): Show |
G | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0047 | 1 | 280 | 0.0036 | -17 | c.110 others(36): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 8/44 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151317436 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0034 | a0001c0034t0018 | a0001c0034t0018g0170 | 1 | 280 | 0.0036 | -17 | c.225 others(38): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151343746 | GTGGCTTA others(10): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00621.hp2 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0111 a0001c0001t0001g0209 a0001c0001t0001g0213 others(91): Show |
94 | 280 | 0.3357 | -17 | c.225 others(36): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED13L_chr12_115953576_116282693 | 116031666 | GAGAAAAG others(10): Show |
G | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 254 | 0.0039 | -17 | c.480 others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | TogoVar | |||||||
MED13L_chr12_115953576_116282693 | 116031725 | GAAAAGAA others(10): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0165 | 1 | 254 | 0.0039 | -17 | c.480 others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | TogoVar | |||||||
MED13L_chr12_115953576_116282693 | 116031735 | GAAAAGAA others(10): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG02451.hp2 |
a0001a0005 | a0001c0001a0005c0021 | a0001c0001t0001a0005c0021t0001 | a0001c0001t0001g0135 a0005c0021t0001g0218 |
2 | 254 | 0.0079 | -17 | c.480 others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | TogoVar | |||||||
MED13L_chr12_115953576_116282693 | 116031738 | AAGAAAAG others(10): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 254 | 0.0039 | -17 | c.480 others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | TogoVar | |||||||
MED13L_chr12_115953576_116282693 | 116102697 | CTTTTTCT others(10): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0096 a0001c0005t0001g0097 a0001c0005t0001g0098 others(2): Show |
5 | 254 | 0.0197 | -17 | c.396 others(34): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 3/30 | chr12 | TogoVar | |||||||
MED13_chr17_61937605_62070278 | 62015942 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 326 | 0.0031 | -17 | c.128 others(36): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 8/29 | chr17 | TogoVar | |||||||
MED13_chr17_61937605_62070278 | 62015946 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0256 | 1 | 326 | 0.0031 | -17 | c.128 others(36): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 8/29 | chr17 | TogoVar | |||||||
MED13_chr17_61937605_62070278 | 62015950 | ATATATTT others(10): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0110 | 1 | 326 | 0.0031 | -17 | c.128 others(36): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 8/29 | chr17 | TogoVar | |||||||
MED13_chr17_61937605_62070278 | 62043168 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 326 | 0.0031 | -17 | c.471 others(34): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
MED16_chr19_862963_898187 | 873308 | GGGGCGGG others(10): Show |
G | intron_variant | MODIFIER | NA19004.hp1 | a0017 | a0017c0015 | a0017c0015t0001 | a0017c0015t0001g0022 | 1 | 56 | 0.0179 | -17 | c.190 others(34): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 11/15 | chr19 | TogoVar | |||||||
MED1_chr17_39399285_39456263 | 39442080 | ACGACAGA others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 a0001c0001t0001g0273 |
2 | 280 | 0.0071 | -17 | c.212 others(34): Show |
MED1 | ENSG00000125686.12 | transcript | ENST00000300651.11 | protein_coding | 3/16 | chr17 | TogoVar | |||||||
MED28_chr4_17609641_17639105 | 17618747 | CTGCCTTC others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(210): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(141): Show |
213 | 328 | 0.6494 | -17 | c.160 others(34): Show |
MED28 | ENSG00000118579.13 | transcript | ENST00000237380.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MED28_chr4_17609641_17639105 | 17623146 | ATCCTAGC others(10): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0087a0001c0001t0088a0001c0001t0089others(2): Show | a0001c0001t0087g0103 a0001c0001t0088g0105 a0001c0001t0089g0036 others(2): Show |
5 | 328 | 0.0152 | -17 | c.340 others(32): Show |
MED28 | ENSG00000118579.13 | transcript | ENST00000237380.12 | protein_coding | 3/3 | chr4 | TogoVar | |||||||
MED28_chr4_17609641_17639105 | 17632043 | ATTTTTTT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03471.hp2 HG03486.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0044 | a0001c0001t0022g0020 a0001c0001t0022g0069 a0001c0001t0044g0067 |
3 | 328 | 0.0092 | -17 | c.*82 others(28): Show |
MED28 | ENSG00000118579.13 | transcript | ENST00000237380.12 | protein_coding | 4/4 | 8273 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |