Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 90390 |
| ensemblid | ENSG00000164758.7 |
| hgncid | 23032 |
| symbol | MED30 |
| name | mediator complex subunit 30 |
| refseq_nuc | NM_080651.4 |
| refseq_prot | NP_542382.1 |
| ensembl_nuc | ENST00000297347.7 |
| ensembl_prot | ENSP00000297347.3 |
| mane_status | MANE Select |
| chr | chr8 |
| start | 117520713 |
| end | 117540262 |
| strand | + |
| ver | v1.2 |
| region | chr8:117520713-117540262 |
| region5000 | chr8:117515713-117545262 |
| regionname0 | MED30_chr8_117520713_117540262 |
| regionname5000 | MED30_chr8_117515713_117545262 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 178 | 342 | 80 | 72 | 146 | 14 | 28 | 116 | MED30_chr8_117515713_117545262 | MED30 | MSTPP others(173): Show |
chr8 | 117515713 | 117545262 |
| a0002 | 0/0 | 178 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | MSTPP others(173): Show |
chr8 | 117515713 | 117545262 |
| a0003 | 0/0 | 178 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | MSTPP others(173): Show |
chr8 | 117515713 | 117545262 |
| a0004 | 0/0 | 178 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | MSTPP others(173): Show |
chr8 | 117515713 | 117545262 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 534 | 341 | 80 | 71 | 146 | 14 | 28 | MED30_chr8_117515713_117545262 | MED30 | ATGTC others(529): Show |
chr8 | 117515713 | 117545262 | ||
| a0001c0005 | 0/0 | 534 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | ATGTC others(529): Show |
chr8 | 117515713 | 117545262 | ||
| a0002c0002 | 0/0 | 534 | 3 | 3 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | ATGTC others(529): Show |
chr8 | 117515713 | 117545262 | ||
| a0003c0003 | 0/0 | 534 | 2 | 2 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | ATGTC others(529): Show |
chr8 | 117515713 | 117545262 | ||
| a0004c0004 | 0/0 | 534 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | ATGTC others(529): Show |
chr8 | 117515713 | 117545262 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 985 | 159 | 26 | 31 | 82 | 4 | 15 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(980): Show |
chr8 | 117515713 | 117545262 |
| a0001c0001t0002 | 0/1 | 985 | 80 | 22 | 13 | 33 | 2 | 9 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(980): Show |
chr8 | 117515713 | 117545262 |
| a0001c0001t0003 | 0/0 | 984 | 42 | 4 | 9 | 22 | 3 | 4 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(979): Show |
chr8 | 117515713 | 117545262 |
| a0001c0001t0004 | 0/0 | 984 | 39 | 11 | 16 | 7 | 5 | 0 | MED30_chr8_117515713_117545262 | MED30 | GTTTA others(979): Show |
chr8 | 117515713 | 117545262 |
| a0001c0001t0005 | 0/0 | 985 | 14 | 12 | 2 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(980): Show |
chr8 | 117515713 | 117545262 |
| a0001c0001t0006 | 0/0 | 989 | 4 | 4 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(984): Show |
chr8 | 117515713 | 117545262 |
| a0001c0001t0007 | 0/0 | 985 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(980): Show |
chr8 | 117515713 | 117545262 |
| a0001c0001t0008 | 0/0 | 985 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(980): Show |
chr8 | 117515713 | 117545262 |
| a0001c0001t0009 | 0/0 | 985 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(980): Show |
chr8 | 117515713 | 117545262 |
| a0001c0005t0001 | 0/0 | 985 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(980): Show |
chr8 | 117515713 | 117545262 |
| a0002c0002t0002 | 0/0 | 985 | 3 | 3 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(980): Show |
chr8 | 117515713 | 117545262 |
| a0003c0003t0002 | 0/0 | 985 | 2 | 2 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(980): Show |
chr8 | 117515713 | 117545262 |
| a0004c0004t0003 | 0/0 | 984 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | GTGTT others(979): Show |
chr8 | 117515713 | 117545262 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 1/0 | 63 | 10 | 13 | 32 | 3 | 4 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0003 | 0/0 | 21 | 4 | 4 | 11 | 0 | 2 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0008 | 0/0 | 6 | 0 | 1 | 4 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0009 | 0/0 | 5 | 0 | 2 | 1 | 0 | 2 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0030 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0031 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0032 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0033 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0002 | 0/0 | 27 | 2 | 5 | 15 | 1 | 4 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0006 | 0/1 | 6 | 1 | 0 | 3 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0012 | 0/0 | 4 | 3 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0014 | 0/0 | 3 | 0 | 0 | 2 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0015 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0018 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0022 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0023 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0028 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0029 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0034 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0054 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0005 | 0/0 | 13 | 0 | 1 | 12 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0007 | 0/0 | 6 | 0 | 4 | 0 | 1 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0011 | 0/0 | 4 | 0 | 1 | 0 | 1 | 2 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0016 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0024 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0025 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0026 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0060 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0003g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0004 | 0/0 | 14 | 2 | 6 | 5 | 1 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0013 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0021 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0035 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0037 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0038 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0130 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0131 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0138 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0004g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0005g0010 | 0/0 | 5 | 4 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0005g0020 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0005g0036 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0005g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0005g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0005g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0005g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0006g0019 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0006g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0007g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0008g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0001t0009g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0001c0005t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0002c0002t0002g0017 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0003c0003t0002g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| a0004c0004t0003g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0003 | g0011 | EUR | GBR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00140 | hp1 | a0001 | c0001 | t0004 | g0038 | EUR | GBR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00140 | hp2 | a0001 | c0001 | t0003 | g0007 | EUR | GBR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00280 | hp1 | a0001 | c0001 | t0002 | g0002 | EUR | FIN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00323 | hp1 | a0001 | c0001 | t0003 | g0060 | EUR | FIN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0122 | EUR | FIN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00438 | hp1 | a0001 | c0001 | t0004 | g0140 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00544 | hp1 | a0001 | c0001 | t0002 | g0125 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00558 | hp2 | a0001 | c0001 | t0002 | g0014 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0098 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00639 | hp1 | a0001 | c0001 | t0005 | g0136 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00639 | hp2 | a0001 | c0001 | t0004 | g0128 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00642 | hp1 | a0001 | c0001 | t0004 | g0004 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00642 | hp2 | a0001 | c0001 | t0003 | g0061 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00733 | hp1 | a0001 | c0001 | t0002 | g0044 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00733 | hp2 | a0001 | c0001 | t0004 | g0129 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00735 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00735 | hp2 | a0001 | c0001 | t0004 | g0037 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00738 | hp1 | a0001 | c0001 | t0003 | g0026 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0123 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0047 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01070 | hp1 | a0001 | c0001 | t0004 | g0142 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01081 | hp1 | a0001 | c0001 | t0004 | g0037 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01081 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01106 | hp2 | a0001 | c0001 | t0004 | g0002 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01109 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01109 | hp2 | a0001 | c0001 | t0004 | g0004 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01167 | hp1 | a0001 | c0001 | t0004 | g0143 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01167 | hp2 | a0001 | c0001 | t0001 | g0087 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01175 | hp2 | a0001 | c0001 | t0002 | g0022 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0120 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01192 | hp2 | a0001 | c0001 | t0004 | g0038 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01243 | hp1 | a0001 | c0001 | t0005 | g0010 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01255 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0121 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01256 | hp1 | a0001 | c0001 | t0003 | g0005 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01257 | hp1 | a0001 | c0001 | t0002 | g0023 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01258 | hp1 | a0001 | c0001 | t0002 | g0023 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01261 | hp1 | a0001 | c0001 | t0004 | g0021 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0071 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01346 | hp2 | a0001 | c0001 | t0003 | g0007 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01361 | hp2 | a0001 | c0001 | t0003 | g0026 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0117 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01496 | hp1 | a0001 | c0001 | t0003 | g0011 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01515 | hp1 | a0001 | c0001 | t0004 | g0130 | EUR | IBS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01515 | hp2 | a0001 | c0001 | t0004 | g0138 | EUR | IBS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01517 | hp1 | a0001 | c0001 | t0004 | g0131 | EUR | IBS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01884 | hp1 | a0001 | c0001 | t0002 | g0064 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01884 | hp2 | a0001 | c0001 | t0005 | g0036 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01891 | hp1 | a0001 | c0001 | t0002 | g0018 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01891 | hp2 | a0001 | c0001 | t0005 | g0134 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01928 | hp2 | a0001 | c0001 | t0003 | g0007 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01934 | hp1 | a0001 | c0001 | t0003 | g0007 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01934 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01943 | hp2 | a0001 | c0001 | t0004 | g0004 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01952 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0031 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01975 | hp1 | a0001 | c0005 | t0001 | g0001 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01975 | hp2 | a0001 | c0001 | t0004 | g0004 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0089 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01981 | hp1 | a0001 | c0001 | t0004 | g0004 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0094 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01993 | hp2 | a0001 | c0001 | t0004 | g0004 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02004 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02027 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0006 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0072 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0070 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02132 | hp1 | a0001 | c0001 | t0002 | g0049 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02132 | hp2 | a0001 | c0001 | t0002 | g0034 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02145 | hp1 | a0001 | c0001 | t0005 | g0020 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02145 | hp2 | a0001 | c0001 | t0004 | g0021 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | CDX | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0113 | EAS | CDX | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02257 | hp1 | a0001 | c0001 | t0002 | g0055 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02273 | hp2 | a0001 | c0001 | t0003 | g0007 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02280 | hp1 | a0001 | c0001 | t0005 | g0135 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0111 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02293 | hp2 | a0001 | c0001 | t0002 | g0051 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0073 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02300 | hp2 | a0001 | c0001 | t0004 | g0141 | AMR | PEL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02451 | hp1 | a0001 | c0001 | t0004 | g0004 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0115 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02523 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02572 | hp1 | a0001 | c0001 | t0006 | g0133 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0032 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02602 | hp2 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02615 | hp1 | a0001 | c0001 | t0002 | g0126 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02622 | hp1 | a0001 | c0001 | t0003 | g0025 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0096 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02630 | hp1 | a0002 | c0002 | t0002 | g0017 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02647 | hp1 | a0001 | c0001 | t0006 | g0019 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02647 | hp2 | a0001 | c0001 | t0005 | g0010 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0106 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0104 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02717 | hp1 | a0001 | c0001 | t0006 | g0019 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02717 | hp2 | a0001 | c0001 | t0002 | g0012 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02723 | hp2 | a0001 | c0001 | t0004 | g0013 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02738 | hp1 | a0001 | c0001 | t0003 | g0027 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02738 | hp2 | a0001 | c0001 | t0002 | g0045 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02809 | hp1 | a0001 | c0001 | t0002 | g0002 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02809 | hp2 | a0001 | c0001 | t0003 | g0057 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02818 | hp1 | a0001 | c0001 | t0002 | g0012 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02818 | hp2 | a0001 | c0001 | t0006 | g0019 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0029 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0033 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02895 | hp1 | a0001 | c0001 | t0002 | g0068 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02895 | hp2 | a0001 | c0001 | t0002 | g0028 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02896 | hp1 | a0001 | c0001 | t0002 | g0018 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0097 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02922 | hp1 | a0001 | c0001 | t0002 | g0028 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0109 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02965 | hp1 | a0001 | c0001 | t0004 | g0035 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02965 | hp2 | a0003 | c0003 | t0002 | g0002 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02970 | hp1 | a0001 | c0001 | t0003 | g0062 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02970 | hp2 | a0001 | c0001 | t0004 | g0021 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02976 | hp1 | a0001 | c0001 | t0004 | g0013 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0107 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0108 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03098 | hp1 | a0004 | c0004 | t0003 | g0027 | AFR | MSL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03098 | hp2 | a0001 | c0001 | t0004 | g0132 | AFR | MSL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03130 | hp1 | a0002 | c0002 | t0002 | g0017 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03130 | hp2 | a0001 | c0001 | t0005 | g0010 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0018 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03139 | hp2 | a0001 | c0001 | t0005 | g0010 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03195 | hp1 | a0001 | c0001 | t0004 | g0013 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03195 | hp2 | a0001 | c0001 | t0009 | g0001 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0084 | AFR | MSL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0039 | AFR | MSL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03453 | hp1 | a0001 | c0001 | t0004 | g0013 | AFR | MSL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03453 | hp2 | a0001 | c0001 | t0002 | g0052 | AFR | MSL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03486 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | MSL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0014 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03540 | hp1 | a0001 | c0001 | t0002 | g0069 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03540 | hp2 | a0001 | c0001 | t0005 | g0020 | AFR | GWD | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0009 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03654 | hp2 | a0001 | c0001 | t0002 | g0048 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03669 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0008 | SAS | PJL | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03831 | hp1 | a0001 | c0001 | t0003 | g0007 | SAS | BEB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0032 | SAS | BEB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03834 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | BEB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | BEB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG04184 | hp1 | a0001 | c0001 | t0003 | g0011 | SAS | BEB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG04184 | hp2 | a0001 | c0001 | t0002 | g0006 | SAS | BEB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0009 | SAS | STU | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG04199 | hp2 | a0001 | c0001 | t0003 | g0011 | SAS | STU | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0110 | SAS | STU | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0033 | AFR | YRI | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18522 | hp2 | a0001 | c0001 | t0002 | g0012 | AFR | YRI | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | CHB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18612 | hp2 | a0001 | c0001 | t0004 | g0004 | EAS | CHB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | YRI | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18906 | hp2 | a0001 | c0001 | t0004 | g0035 | AFR | YRI | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18941 | hp1 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0053 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18943 | hp2 | a0001 | c0001 | t0002 | g0006 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18944 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18945 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18946 | hp2 | a0001 | c0001 | t0001 | g0081 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18947 | hp2 | a0001 | c0001 | t0004 | g0004 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18949 | hp1 | a0001 | c0001 | t0002 | g0046 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18950 | hp1 | a0001 | c0001 | t0003 | g0059 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18952 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18953 | hp1 | a0001 | c0001 | t0002 | g0014 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18954 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18956 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18957 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18960 | hp2 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18963 | hp2 | a0001 | c0001 | t0003 | g0024 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18964 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18968 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18971 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18972 | hp2 | a0001 | c0001 | t0003 | g0024 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18974 | hp1 | a0001 | c0001 | t0004 | g0004 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18974 | hp2 | a0001 | c0001 | t0002 | g0006 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18975 | hp2 | a0001 | c0001 | t0002 | g0127 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18978 | hp2 | a0001 | c0001 | t0003 | g0016 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18981 | hp1 | a0001 | c0001 | t0004 | g0004 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18981 | hp2 | a0001 | c0001 | t0002 | g0015 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18982 | hp2 | a0001 | c0001 | t0002 | g0043 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18983 | hp1 | a0001 | c0001 | t0007 | g0003 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18983 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18984 | hp1 | a0001 | c0001 | t0004 | g0004 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0080 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18986 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18988 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18988 | hp2 | a0001 | c0001 | t0003 | g0058 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18989 | hp2 | a0001 | c0001 | t0004 | g0139 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18990 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18992 | hp1 | a0001 | c0001 | t0002 | g0041 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18992 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18997 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18997 | hp2 | a0001 | c0001 | t0002 | g0015 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19000 | hp2 | a0001 | c0001 | t0003 | g0016 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19002 | hp1 | a0001 | c0001 | t0003 | g0016 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19005 | hp2 | a0001 | c0001 | t0003 | g0066 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19009 | hp1 | a0001 | c0001 | t0002 | g0034 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19010 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19011 | hp1 | a0001 | c0001 | t0008 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19011 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19012 | hp1 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19043 | hp1 | a0001 | c0001 | t0002 | g0067 | AFR | LWK | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19043 | hp2 | a0001 | c0001 | t0005 | g0036 | AFR | LWK | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19057 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19058 | hp1 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19060 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19064 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19064 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19067 | hp1 | a0001 | c0001 | t0002 | g0006 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19067 | hp2 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19070 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19072 | hp1 | a0001 | c0001 | t0003 | g0063 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19072 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19078 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19078 | hp2 | a0001 | c0001 | t0003 | g0040 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19080 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19081 | hp1 | a0001 | c0001 | t0002 | g0056 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19084 | hp1 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19087 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19089 | hp2 | a0001 | c0001 | t0002 | g0015 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19090 | hp2 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0077 | AFR | YRI | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA20129 | hp1 | a0001 | c0001 | t0003 | g0025 | AFR | ASW | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA20129 | hp2 | a0001 | c0001 | t0005 | g0010 | AFR | ASW | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA20752 | hp1 | a0001 | c0001 | t0004 | g0004 | EUR | TSI | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0054 | EUR | TSI | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0065 | SAS | GIH | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | GIH | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01123 | hp1 | a0001 | c0001 | t0002 | g0042 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02109 | hp1 | a0003 | c0003 | t0002 | g0002 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02109 | hp2 | a0001 | c0001 | t0002 | g0029 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG02559 | hp2 | a0001 | c0001 | t0002 | g0050 | AFR | ACB | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG06807 | hp1 | a0001 | c0001 | t0005 | g0137 | AFR | USA | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| HG06807 | hp2 | a0001 | c0001 | t0002 | g0022 | AFR | USA | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18955 | hp1 | a0001 | c0001 | t0003 | g0005 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0092 | EAS | JPT | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | USA | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA20300 | hp2 | a0001 | c0001 | t0005 | g0020 | AFR | USA | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA21309 | hp1 | a0002 | c0002 | t0002 | g0017 | AFR | LWK | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| NA21309 | hp2 | a0001 | c0001 | t0004 | g0004 | AFR | LWK | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0002 | g0006 | REF | REF | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0001 | REF | REF | MED30_chr8_117515713_117545262 | MED30 | chr8 | 117515713 | 117545262 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:117520905 | G | T | 1 | a0003 | 2 | HG02109.hp1 HG02965.hp2 |
missense_variant | MODERATE | c.29G>T | p.Gly10Val | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/4 | 193/985 | 29/537 | 10/178 | chr8 | 117520905 | |||
| chr8:117520949 | G | T | 1 | a0002 | 3 | HG02630.hp1 HG03130.hp1 NA21309.hp1 |
missense_variant | MODERATE | c.73G>T | p.Ala25Ser | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/4 | 237/985 | 73/537 | 25/178 | chr8 | 117520949 | |||
| chr8:117528792 | G | T | 1 | a0004 | 1 | HG03098.hp1 | missense_variant | MODERATE | c.319G>T | p.Asp107Tyr | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/4 | 483/985 | 319/537 | 107/178 | chr8 | 117528792 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:117520927 | C | T | 1 | a0001c0005 | 1 | HG01975.hp1 | synonymous_variant | LOW | c.51C>T | p.Ala17Ala | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/4 | 215/985 | 51/537 | 17/178 | chr8 | 117520927 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:117520714 | TG | T | 1 | a0001c0001t0004 | 39 | HG00140.hp1 HG00438.hp1 HG00639.hp2 others(36): Show |
5_prime_UTR_variant | MODIFIER | c.-162delG | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/4 | 162 | chr8 | 117520714 | ||||||
| chr8:117520725 | A | G | 8 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show |
184 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(181): Show |
5_prime_UTR_variant | MODIFIER | c.-152A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/4 | 152 | chr8 | 117520725 | ||||||
| chr8:117520791 | C | T | 1 | a0001c0001t0009 | 1 | HG03195.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-86C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/4 | chr8 | 117520791 | |||||||
| chr8:117520792 | G | A | 1 | a0001c0001t0007 | 1 | NA18983.hp1 | 5_prime_UTR_variant | MODIFIER | c.-85G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/4 | 85 | chr8 | 117520792 | ||||||
| chr8:117520822 | C | G | 1 | a0001c0001t0005 | 14 | HG00639.hp1 HG01243.hp1 HG01884.hp2 others(11): Show |
5_prime_UTR_variant | MODIFIER | c.-55C>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/4 | 55 | chr8 | 117520822 | ||||||
| chr8:117520827 | C | A | 1 | a0001c0001t0005 | 14 | HG00639.hp1 HG01243.hp1 HG01884.hp2 others(11): Show |
5_prime_UTR_variant | MODIFIER | c.-50C>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/4 | 50 | chr8 | 117520827 | ||||||
| chr8:117520829 | C | T | 1 | a0001c0001t0008 | 1 | NA19011.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-48C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/4 | chr8 | 117520829 | |||||||
| chr8:117540098 | T | G | 1 | a0001c0001t0006 | 4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*120T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 4/4 | 120 | chr8 | 117540098 | ||||||
| chr8:117540135 | CT | C | 2 | a0001c0001t0003 a0004c0004t0003 |
43 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(40): Show |
3_prime_UTR_variant | MODIFIER | c.*164delT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 4/4 | 164 | INFO_REALIGN_3_PRIME | chr8 | 117540135 | |||||
| chr8:117540148 | T | TATTA | 1 | a0001c0001t0006 | 4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*173_*174insAATT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 4/4 | 174 | INFO_REALIGN_3_PRIME | chr8 | 117540148 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:117521073 | A | G | 30 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(27): Show |
61 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(58): Show |
intron_variant | MODIFIER | c.177+20A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521073 | |||||||
| chr8:117521143 | T | A | 83 | a0001c0001t0001g0039 a0001c0001t0002g0002 a0001c0001t0002g0006 others(80): Show |
185 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(182): Show |
intron_variant | MODIFIER | c.177+90T>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521143 | |||||||
| chr8:117521205 | C | T | 11 | a0001c0001t0004g0004 a0001c0001t0004g0013 a0001c0001t0004g0021 others(8): Show |
31 | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(28): Show |
intron_variant | MODIFIER | c.177+152C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521205 | |||||||
| chr8:117521266 | A | G | 1 | a0001c0001t0001g0124 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.177+213A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521266 | |||||||
| chr8:117521314 | C | G | 1 | a0001c0001t0003g0007 | 6 | HG00140.hp2 HG01346.hp2 HG01928.hp2 others(3): Show |
intron_variant | MODIFIER | c.177+261C>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521314 | |||||||
| chr8:117521421 | A | AT | 6 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0029 others(3): Show |
12 | HG01109.hp1 HG01891.hp1 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.177+376dupT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117521421 | ||||||
| chr8:117521429 | T | A | 1 | a0001c0001t0001g0070 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.177+376T>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521429 | |||||||
| chr8:117521436 | AC | A | 9 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0071 others(6): Show |
11 | HG01175.hp1 HG01346.hp1 HG01952.hp2 others(8): Show |
intron_variant | MODIFIER | c.177+384delC | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521436 | |||||||
| chr8:117521604 | C | T | 1 | a0001c0001t0001g0123 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.177+551C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521604 | |||||||
| chr8:117521685 | C | T | 2 | a0001c0001t0001g0121 a0001c0001t0001g0122 |
2 | HG00323.hp2 HG01255.hp2 |
intron_variant | MODIFIER | c.177+632C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521685 | |||||||
| chr8:117521687 | G | T | 2 | a0001c0001t0002g0028 a0002c0002t0002g0017 |
5 | HG02630.hp1 HG02895.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.177+634G>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521687 | |||||||
| chr8:117521705 | C | CT | 9 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0029 others(6): Show |
17 | HG00639.hp1 HG01109.hp1 HG01891.hp1 others(14): Show |
intron_variant | MODIFIER | c.177+662dupT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117521705 | ||||||
| chr8:117521725 | C | G | 1 | a0001c0001t0001g0120 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.177+672C>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521725 | |||||||
| chr8:117521795 | C | T | 1 | a0001c0001t0001g0119 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.177+742C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521795 | |||||||
| chr8:117521868 | C | T | 1 | a0001c0001t0003g0066 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.177+815C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117521868 | |||||||
| chr8:117522053 | A | G | 7 | a0001c0001t0005g0010 a0001c0001t0005g0020 a0001c0001t0005g0036 others(4): Show |
14 | HG00639.hp1 HG01243.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.177+1000A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522053 | |||||||
| chr8:117522363 | A | G | 1 | a0001c0001t0002g0065 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.177+1310A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522363 | |||||||
| chr8:117522367 | A | G | 1 | a0001c0001t0001g0118 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.177+1314A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522367 | |||||||
| chr8:117522412 | T | C | 4 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(1): Show |
5 | HG00544.hp1 HG02132.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.177+1359T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522412 | |||||||
| chr8:117522635 | C | T | 2 | a0001c0001t0004g0013 a0001c0001t0004g0021 |
7 | HG01261.hp1 HG02145.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.177+1582C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522635 | |||||||
| chr8:117522635 | CT | C | 5 | a0001c0001t0004g0035 a0001c0001t0004g0132 a0001c0001t0004g0142 others(2): Show |
8 | HG01070.hp1 HG02572.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.177+1595delT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117522635 | ||||||
| chr8:117522636 | T | C | 20 | a0001c0001t0004g0004 a0001c0001t0004g0013 a0001c0001t0004g0021 others(17): Show |
47 | HG00140.hp1 HG00438.hp1 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.177+1583T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522636 | |||||||
| chr8:117522637 | T | C | 4 | a0001c0001t0004g0035 a0001c0001t0004g0132 a0001c0001t0004g0142 others(1): Show |
5 | HG01070.hp1 HG01167.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.177+1584T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522637 | |||||||
| chr8:117522701 | T | TGGAAATT others(326): Show |
1 | a0001c0001t0004g0130 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.177+1658_177+1659i others(335): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117522701 | ||||||
| chr8:117522701 | T | TGGAAATT others(327): Show |
1 | a0001c0001t0004g0131 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.177+1658_177+1659i others(336): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117522701 | ||||||
| chr8:117522755 | A | G | 2 | a0001c0001t0004g0035 a0001c0001t0004g0132 |
3 | HG02965.hp1 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.177+1702A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522755 | |||||||
| chr8:117522815 | T | G | 11 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(8): Show |
19 | HG00544.hp1 HG00639.hp1 HG01243.hp1 others(16): Show |
intron_variant | MODIFIER | c.177+1762T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522815 | |||||||
| chr8:117522948 | T | G | 1 | a0001c0001t0001g0039 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.177+1895T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522948 | |||||||
| chr8:117522981 | A | G | 6 | a0001c0001t0001g0008 a0001c0001t0001g0113 a0001c0001t0001g0114 others(3): Show |
11 | HG00558.hp1 HG00673.hp1 HG00738.hp2 others(8): Show |
intron_variant | MODIFIER | c.177+1928A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522981 | |||||||
| chr8:117522998 | T | C | 83 | a0001c0001t0001g0039 a0001c0001t0002g0002 a0001c0001t0002g0006 others(80): Show |
185 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(182): Show |
intron_variant | MODIFIER | c.177+1945T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522998 | |||||||
| chr8:117522999 | G | A | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.177+1946G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117522999 | |||||||
| chr8:117523010 | T | A | 1 | a0001c0001t0001g0078 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.177+1957T>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523010 | |||||||
| chr8:117523139 | C | T | 1 | a0001c0001t0005g0135 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.177+2086C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523139 | |||||||
| chr8:117523159 | T | A | 44 | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0014 others(41): Show |
106 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(103): Show |
intron_variant | MODIFIER | c.177+2106T>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523159 | |||||||
| chr8:117523195 | CT | C | 34 | a0001c0001t0001g0039 a0001c0001t0001g0079 a0001c0001t0001g0080 others(31): Show |
74 | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.177+2154delT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117523195 | ||||||
| chr8:117523210 | GT | G | 16 | a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0056 others(13): Show |
37 | HG01243.hp1 HG01256.hp1 HG01884.hp2 others(34): Show |
intron_variant | MODIFIER | c.177+2169delT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117523210 | ||||||
| chr8:117523272 | T | G | 1 | a0001c0001t0001g0071 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.177+2219T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523272 | |||||||
| chr8:117523386 | A | G | 2 | a0001c0001t0003g0058 a0001c0001t0003g0059 |
2 | NA18950.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.177+2333A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523386 | |||||||
| chr8:117523478 | G | A | 1 | a0001c0001t0001g0082 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.177+2425G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523478 | |||||||
| chr8:117523482 | G | T | 2 | a0001c0001t0002g0012 a0001c0001t0002g0029 |
6 | HG01109.hp1 HG02109.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.177+2429G>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523482 | |||||||
| chr8:117523643 | C | T | 1 | a0001c0001t0002g0054 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.177+2590C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523643 | |||||||
| chr8:117523816 | A | G | 47 | a0001c0001t0001g0033 a0001c0001t0002g0002 a0001c0001t0002g0006 others(44): Show |
112 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(109): Show |
intron_variant | MODIFIER | c.177+2763A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523816 | |||||||
| chr8:117523823 | AT | A | 2 | a0001c0001t0004g0035 a0001c0001t0004g0132 |
3 | HG02965.hp1 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.177+2771delT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523823 | |||||||
| chr8:117523843 | C | G | 1 | a0001c0001t0002g0053 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.177+2790C>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523843 | |||||||
| chr8:117523931 | C | A | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.177+2878C>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523931 | |||||||
| chr8:117523945 | G | T | 12 | a0001c0001t0004g0035 a0001c0001t0004g0128 a0001c0001t0004g0129 others(9): Show |
20 | HG00639.hp2 HG00733.hp2 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.177+2892G>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117523945 | |||||||
| chr8:117524160 | G | A | 16 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(13): Show |
25 | HG00544.hp1 HG00639.hp2 HG00733.hp2 others(22): Show |
intron_variant | MODIFIER | c.177+3107G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117524160 | |||||||
| chr8:117524202 | T | G | 19 | a0001c0001t0002g0056 a0001c0001t0003g0005 a0001c0001t0003g0007 others(16): Show |
44 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(41): Show |
intron_variant | MODIFIER | c.177+3149T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117524202 | |||||||
| chr8:117524526 | C | G | 1 | a0001c0001t0002g0028 | 2 | HG02895.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.177+3473C>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117524526 | |||||||
| chr8:117524600 | T | C | 1 | a0001c0001t0002g0042 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.177+3547T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117524600 | |||||||
| chr8:117524658 | AG | A | 2 | a0001c0001t0002g0028 a0002c0002t0002g0017 |
5 | HG02630.hp1 HG02895.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.177+3606delG | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117524658 | |||||||
| chr8:117524688 | A | G | 1 | a0001c0001t0001g0039 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.177+3635A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117524688 | |||||||
| chr8:117524777 | GCAT | G | 17 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0029 others(14): Show |
43 | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.177+3725_177+3727d others(5): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117524777 | |||||||
| chr8:117524849 | C | T | 16 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(13): Show |
25 | HG00544.hp1 HG00639.hp2 HG00733.hp2 others(22): Show |
intron_variant | MODIFIER | c.177+3796C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117524849 | |||||||
| chr8:117524923 | T | C | 1 | a0001c0001t0002g0043 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.178-3728T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117524923 | |||||||
| chr8:117525061 | C | T | 1 | a0001c0001t0001g0077 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.178-3590C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525061 | |||||||
| chr8:117525166 | C | CT | 10 | a0001c0001t0004g0035 a0001c0001t0004g0128 a0001c0001t0004g0129 others(7): Show |
16 | HG00639.hp2 HG00733.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.178-3484dupT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117525166 | ||||||
| chr8:117525170 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.178-3481G>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525170 | |||||||
| chr8:117525178 | C | A | 1 | a0001c0001t0001g0039 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.178-3473C>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525178 | |||||||
| chr8:117525216 | T | C | 2 | a0001c0001t0002g0028 a0002c0002t0002g0017 |
5 | HG02630.hp1 HG02895.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.178-3435T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525216 | |||||||
| chr8:117525230 | A | G | 1 | a0001c0001t0002g0028 | 2 | HG02895.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.178-3421A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525230 | |||||||
| chr8:117525343 | C | CT | 5 | a0001c0001t0001g0112 a0001c0001t0002g0028 a0001c0001t0004g0035 others(2): Show |
9 | HG02630.hp1 HG02895.hp2 HG02922.hp1 others(6): Show |
intron_variant | MODIFIER | c.178-3295dupT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117525343 | ||||||
| chr8:117525356 | T | C | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.178-3295T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525356 | |||||||
| chr8:117525393 | A | G | 47 | a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0006 others(44): Show |
111 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(108): Show |
intron_variant | MODIFIER | c.178-3258A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525393 | |||||||
| chr8:117525417 | C | T | 4 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(1): Show |
5 | HG00544.hp1 HG02132.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.178-3234C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525417 | |||||||
| chr8:117525422 | T | C | 1 | a0001c0001t0001g0083 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.178-3229T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525422 | |||||||
| chr8:117525439 | A | AT | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.178-3205dupT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117525439 | ||||||
| chr8:117525450 | T | C | 82 | a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0006 others(79): Show |
184 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(181): Show |
intron_variant | MODIFIER | c.178-3201T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525450 | |||||||
| chr8:117525489 | A | G | 4 | a0001c0001t0005g0010 a0001c0001t0005g0036 a0001c0001t0005g0134 others(1): Show |
9 | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.178-3162A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525489 | |||||||
| chr8:117525628 | A | T | 1 | a0001c0001t0003g0063 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.178-3023A>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525628 | |||||||
| chr8:117525767 | T | C | 4 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(1): Show |
5 | HG00544.hp1 HG02132.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.178-2884T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525767 | |||||||
| chr8:117525956 | G | A | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.178-2695G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117525956 | |||||||
| chr8:117526012 | A | G | 1 | a0001c0001t0001g0110 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.178-2639A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526012 | |||||||
| chr8:117526094 | TTA | T | 3 | a0001c0001t0004g0013 a0001c0001t0004g0021 a0001c0001t0004g0143 |
8 | HG01167.hp1 HG01261.hp1 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.178-2555_178-2554d others(4): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117526094 | ||||||
| chr8:117526289 | C | G | 8 | a0001c0001t0004g0004 a0001c0001t0004g0037 a0001c0001t0004g0038 others(5): Show |
23 | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.178-2362C>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526289 | |||||||
| chr8:117526298 | C | G | 1 | a0001c0001t0001g0032 | 2 | HG02602.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.178-2353C>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526298 | |||||||
| chr8:117526418 | A | G | 28 | a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0006 others(25): Show |
67 | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.178-2233A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526418 | |||||||
| chr8:117526444 | T | C | 6 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0029 others(3): Show |
12 | HG01109.hp1 HG01891.hp1 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.178-2207T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526444 | |||||||
| chr8:117526444 | T | G | 28 | a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0006 others(25): Show |
67 | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.178-2207T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526444 | |||||||
| chr8:117526519 | A | T | 1 | a0002c0002t0002g0017 | 3 | HG02630.hp1 HG03130.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.178-2132A>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526519 | |||||||
| chr8:117526544 | G | A | 1 | a0001c0001t0004g0132 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.178-2107G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526544 | |||||||
| chr8:117526623 | G | A | 1 | a0001c0001t0002g0053 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.178-2028G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526623 | |||||||
| chr8:117526657 | C | T | 4 | a0001c0001t0005g0010 a0001c0001t0005g0036 a0001c0001t0005g0134 others(1): Show |
9 | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.178-1994C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526657 | |||||||
| chr8:117526658 | G | A | 1 | a0001c0001t0001g0084 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.178-1993G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526658 | |||||||
| chr8:117526809 | A | G | 2 | a0001c0001t0004g0035 a0001c0001t0004g0132 |
3 | HG02965.hp1 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.178-1842A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526809 | |||||||
| chr8:117526964 | G | A | 3 | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0045 |
5 | HG01175.hp2 HG01257.hp1 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.178-1687G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117526964 | |||||||
| chr8:117527006 | A | G | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.178-1645A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117527006 | |||||||
| chr8:117527007 | T | C | 11 | a0001c0001t0004g0004 a0001c0001t0004g0013 a0001c0001t0004g0021 others(8): Show |
31 | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(28): Show |
intron_variant | MODIFIER | c.178-1644T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117527007 | |||||||
| chr8:117527111 | C | G | 1 | a0001c0001t0001g0076 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.178-1540C>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117527111 | |||||||
| chr8:117527342 | T | G | 1 | a0001c0001t0001g0113 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.178-1309T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117527342 | |||||||
| chr8:117527616 | A | G | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.178-1035A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117527616 | |||||||
| chr8:117527636 | CT | C | 32 | a0001c0001t0001g0039 a0001c0001t0001g0087 a0001c0001t0001g0088 others(29): Show |
65 | HG00438.hp1 HG00558.hp1 HG00639.hp2 others(62): Show |
intron_variant | MODIFIER | c.178-997delT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117527636 | ||||||
| chr8:117527636 | CTT | C | 9 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0071 others(6): Show |
11 | HG01175.hp1 HG01346.hp1 HG01952.hp2 others(8): Show |
intron_variant | MODIFIER | c.178-998_178-997del others(2): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117527636 | ||||||
| chr8:117527636 | CTTTTTTT | C | 49 | a0001c0001t0001g0085 a0001c0001t0001g0111 a0001c0001t0002g0002 others(46): Show |
113 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(110): Show |
intron_variant | MODIFIER | c.178-1003_178-997de others(8): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117527636 | ||||||
| chr8:117527767 | G | A | 1 | a0001c0001t0002g0125 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.178-884G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117527767 | |||||||
| chr8:117527780 | C | T | 4 | a0001c0001t0005g0010 a0001c0001t0005g0036 a0001c0001t0005g0134 others(1): Show |
9 | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.178-871C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117527780 | |||||||
| chr8:117527797 | A | C | 1 | a0001c0001t0001g0109 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.178-854A>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117527797 | |||||||
| chr8:117527812 | A | T | 1 | a0001c0001t0001g0039 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.178-839A>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117527812 | |||||||
| chr8:117527883 | A | C | 8 | a0001c0001t0004g0004 a0001c0001t0004g0037 a0001c0001t0004g0038 others(5): Show |
23 | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.178-768A>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117527883 | |||||||
| chr8:117528101 | CCTG | C | 4 | a0001c0001t0005g0010 a0001c0001t0005g0036 a0001c0001t0005g0134 others(1): Show |
9 | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.178-547_178-545del others(3): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | 117528101 | ||||||
| chr8:117528345 | T | G | 1 | a0001c0001t0001g0039 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.178-306T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117528345 | |||||||
| chr8:117528459 | A | C | 2 | a0001c0001t0004g0035 a0001c0001t0004g0132 |
3 | HG02965.hp1 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.178-192A>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117528459 | |||||||
| chr8:117528459 | A | G | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.178-192A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117528459 | |||||||
| chr8:117528548 | A | G | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.178-103A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117528548 | |||||||
| chr8:117528593 | A | G | 1 | a0001c0001t0001g0039 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.178-58A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117528593 | |||||||
| chr8:117528624 | T | C | 19 | a0001c0001t0002g0056 a0001c0001t0003g0005 a0001c0001t0003g0007 others(16): Show |
44 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(41): Show |
intron_variant | MODIFIER | c.178-27T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 1/3 | chr8 | 117528624 | |||||||
| chr8:117528818 | T | C | 4 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(1): Show |
5 | HG00544.hp1 HG02132.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.336+9T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117528818 | |||||||
| chr8:117529413 | G | A | 7 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0071 others(4): Show |
9 | HG01175.hp1 HG01346.hp1 HG01952.hp2 others(6): Show |
intron_variant | MODIFIER | c.336+604G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117529413 | |||||||
| chr8:117529496 | A | C | 1 | a0001c0001t0001g0108 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.336+687A>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117529496 | |||||||
| chr8:117529598 | T | G | 17 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0029 others(14): Show |
43 | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.336+789T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117529598 | |||||||
| chr8:117529624 | G | A | 4 | a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 others(1): Show |
4 | HG00639.hp2 HG00733.hp2 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.336+815G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117529624 | |||||||
| chr8:117529627 | A | C | 4 | a0001c0001t0001g0031 a0001c0001t0001g0071 a0001c0001t0001g0073 others(1): Show |
5 | HG01175.hp1 HG01346.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.336+818A>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117529627 | |||||||
| chr8:117529680 | T | C | 1 | a0001c0001t0002g0046 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.336+871T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117529680 | |||||||
| chr8:117529791 | G | A | 1 | a0001c0001t0001g0115 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.337-932G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117529791 | |||||||
| chr8:117530048 | G | A | 1 | a0001c0001t0001g0090 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.337-675G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117530048 | |||||||
| chr8:117530181 | G | A | 16 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(13): Show |
25 | HG00544.hp1 HG00639.hp2 HG00733.hp2 others(22): Show |
intron_variant | MODIFIER | c.337-542G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117530181 | |||||||
| chr8:117530218 | A | G | 1 | a0001c0001t0001g0107 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.337-505A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117530218 | |||||||
| chr8:117530262 | G | T | 1 | a0001c0001t0002g0052 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.337-461G>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117530262 | |||||||
| chr8:117530423 | T | C | 9 | a0001c0001t0002g0056 a0001c0001t0003g0005 a0001c0001t0003g0016 others(6): Show |
24 | HG01256.hp1 NA18941.hp1 NA18944.hp2 others(21): Show |
intron_variant | MODIFIER | c.337-300T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117530423 | |||||||
| chr8:117530496 | C | A | 17 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0029 others(14): Show |
43 | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.337-227C>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117530496 | |||||||
| chr8:117530602 | G | A | 6 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0029 others(3): Show |
12 | HG01109.hp1 HG01891.hp1 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.337-121G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 2/3 | chr8 | 117530602 | |||||||
| chr8:117530983 | AG | A | 2 | a0001c0001t0003g0025 a0001c0001t0003g0062 |
3 | HG02622.hp1 HG02970.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.441+158delG | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117530983 | ||||||
| chr8:117531087 | T | A | 9 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0071 others(6): Show |
11 | HG01175.hp1 HG01346.hp1 HG01952.hp2 others(8): Show |
intron_variant | MODIFIER | c.441+260T>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117531087 | |||||||
| chr8:117531333 | T | G | 1 | a0001c0001t0003g0057 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.441+506T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117531333 | |||||||
| chr8:117531431 | C | T | 4 | a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 others(1): Show |
4 | HG00639.hp2 HG00733.hp2 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.441+604C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117531431 | |||||||
| chr8:117531703 | T | A | 1 | a0001c0001t0002g0067 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.441+876T>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117531703 | |||||||
| chr8:117531704 | A | T | 1 | a0001c0001t0002g0054 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.441+877A>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117531704 | |||||||
| chr8:117531772 | A | C | 1 | a0001c0001t0001g0106 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.441+945A>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117531772 | |||||||
| chr8:117531829 | A | T | 47 | a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0006 others(44): Show |
111 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(108): Show |
intron_variant | MODIFIER | c.441+1002A>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117531829 | |||||||
| chr8:117532130 | A | G | 3 | a0001c0001t0005g0020 a0001c0001t0005g0136 a0001c0001t0005g0137 |
5 | HG00639.hp1 HG02145.hp1 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.441+1303A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117532130 | |||||||
| chr8:117532206 | A | G | 8 | a0001c0001t0004g0004 a0001c0001t0004g0037 a0001c0001t0004g0038 others(5): Show |
23 | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(20): Show |
intron_variant | MODIFIER | c.441+1379A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117532206 | |||||||
| chr8:117532443 | G | T | 2 | a0001c0001t0001g0070 a0001c0001t0001g0105 |
2 | HG02083.hp2 NA18963.hp1 |
intron_variant | MODIFIER | c.441+1616G>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117532443 | |||||||
| chr8:117532558 | G | A | 1 | a0001c0001t0001g0091 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.441+1731G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117532558 | |||||||
| chr8:117532562 | G | A | 1 | a0001c0001t0002g0047 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.441+1735G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117532562 | |||||||
| chr8:117532575 | C | G | 1 | a0001c0001t0003g0057 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.441+1748C>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117532575 | |||||||
| chr8:117532649 | T | G | 17 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0029 others(14): Show |
43 | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.441+1822T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117532649 | |||||||
| chr8:117532691 | A | C | 1 | a0001c0001t0004g0141 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.441+1864A>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117532691 | |||||||
| chr8:117532715 | G | A | 3 | a0001c0001t0005g0020 a0001c0001t0005g0136 a0001c0001t0005g0137 |
5 | HG00639.hp1 HG02145.hp1 HG03540.hp2 others(2): Show |
intron_variant | MODIFIER | c.441+1888G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117532715 | |||||||
| chr8:117532943 | T | C | 1 | a0001c0001t0001g0115 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.441+2116T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117532943 | |||||||
| chr8:117533113 | A | G | 1 | a0001c0001t0001g0104 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.441+2286A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117533113 | |||||||
| chr8:117533337 | G | A | 6 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0029 others(3): Show |
12 | HG01109.hp1 HG01891.hp1 HG02109.hp2 others(9): Show |
intron_variant | MODIFIER | c.441+2510G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117533337 | |||||||
| chr8:117533363 | A | G | 1 | a0001c0001t0002g0045 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.441+2536A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117533363 | |||||||
| chr8:117533371 | T | C | 1 | a0001c0001t0003g0007 | 6 | HG00140.hp2 HG01346.hp2 HG01928.hp2 others(3): Show |
intron_variant | MODIFIER | c.441+2544T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117533371 | |||||||
| chr8:117533414 | T | A | 1 | a0001c0001t0001g0110 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.441+2587T>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117533414 | |||||||
| chr8:117533550 | A | G | 4 | a0001c0001t0005g0010 a0001c0001t0005g0036 a0001c0001t0005g0134 others(1): Show |
9 | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.441+2723A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117533550 | |||||||
| chr8:117533555 | G | A | 1 | a0001c0001t0001g0092 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.441+2728G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117533555 | |||||||
| chr8:117533625 | T | TTTAA | 47 | a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0006 others(44): Show |
111 | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(108): Show |
intron_variant | MODIFIER | c.441+2801_441+2804d others(6): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117533625 | ||||||
| chr8:117533852 | A | C | 2 | a0001c0001t0002g0034 a0001c0001t0002g0127 |
3 | HG02132.hp2 NA18975.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.441+3025A>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117533852 | |||||||
| chr8:117534174 | C | A | 2 | a0001c0001t0001g0079 a0001c0001t0001g0093 |
2 | NA18960.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.441+3347C>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117534174 | |||||||
| chr8:117534174 | C | T | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.441+3347C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117534174 | |||||||
| chr8:117534512 | G | A | 28 | a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0006 others(25): Show |
67 | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.441+3685G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117534512 | |||||||
| chr8:117534523 | C | CTGA | 28 | a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0006 others(25): Show |
67 | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.441+3699_441+3701d others(5): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117534523 | ||||||
| chr8:117534571 | G | A | 1 | a0001c0001t0001g0094 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.441+3744G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117534571 | |||||||
| chr8:117534586 | C | G | 1 | a0001c0001t0002g0125 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.441+3759C>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117534586 | |||||||
| chr8:117534624 | A | G | 1 | a0001c0001t0001g0089 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.441+3797A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117534624 | |||||||
| chr8:117534727 | A | G | 4 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(1): Show |
5 | HG00544.hp1 HG02132.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.441+3900A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117534727 | |||||||
| chr8:117534827 | A | G | 1 | a0001c0001t0001g0103 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.441+4000A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117534827 | |||||||
| chr8:117534850 | G | GT | 13 | a0001c0001t0001g0003 a0001c0001t0001g0078 a0001c0001t0001g0081 others(10): Show |
33 | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(30): Show |
intron_variant | MODIFIER | c.441+4041dupT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117534850 | ||||||
| chr8:117534850 | G | GTTT | 4 | a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0005g0010 others(1): Show |
9 | HG01243.hp1 HG02280.hp1 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.441+4039_441+4041d others(5): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117534850 | ||||||
| chr8:117534850 | G | GTTTT | 14 | a0001c0001t0002g0056 a0001c0001t0003g0005 a0001c0001t0003g0016 others(11): Show |
32 | HG01256.hp1 HG01884.hp2 HG01891.hp2 others(29): Show |
intron_variant | MODIFIER | c.441+4038_441+4041d others(6): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117534850 | ||||||
| chr8:117534850 | G | GTTTTT | 11 | a0001c0001t0002g0034 a0001c0001t0002g0068 a0001c0001t0002g0125 others(8): Show |
22 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(19): Show |
intron_variant | MODIFIER | c.441+4037_441+4041d others(7): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117534850 | ||||||
| chr8:117534850 | G | GTTTTTT | 11 | a0001c0001t0001g0072 a0001c0001t0002g0014 a0001c0001t0002g0018 others(8): Show |
17 | HG00558.hp2 HG00642.hp2 HG01261.hp1 others(14): Show |
intron_variant | MODIFIER | c.441+4036_441+4041d others(8): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117534850 | ||||||
| chr8:117534850 | G | GTTTTTTT | 37 | a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0071 others(34): Show |
88 | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(85): Show |
intron_variant | MODIFIER | c.441+4035_441+4041d others(9): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117534850 | ||||||
| chr8:117534850 | G | GTTTTTTT others(1): Show |
9 | a0001c0001t0001g0031 a0001c0001t0001g0111 a0001c0001t0002g0006 others(6): Show |
16 | HG00438.hp1 HG00733.hp2 HG01175.hp1 others(13): Show |
intron_variant | MODIFIER | c.441+4034_441+4041d others(10): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117534850 | ||||||
| chr8:117534850 | G | GTTTTTTT others(3): Show |
2 | a0001c0001t0004g0035 a0001c0001t0004g0132 |
3 | HG02965.hp1 HG03098.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.441+4032_441+4041d others(12): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117534850 | ||||||
| chr8:117534850 | G | T | 1 | a0001c0001t0004g0013 | 4 | HG02723.hp2 HG02976.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.441+4023G>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117534850 | |||||||
| chr8:117535008 | T | A | 28 | a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0006 others(25): Show |
67 | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.441+4181T>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535008 | |||||||
| chr8:117535218 | T | C | 1 | a0001c0001t0001g0094 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.441+4391T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535218 | |||||||
| chr8:117535239 | C | CT | 12 | a0001c0001t0001g0009 a0001c0001t0001g0086 a0001c0001t0001g0089 others(9): Show |
21 | HG00140.hp1 HG00438.hp1 HG01192.hp2 others(18): Show |
intron_variant | MODIFIER | c.441+4433dupT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117535239 | ||||||
| chr8:117535239 | CT | C | 26 | a0001c0001t0001g0095 a0001c0001t0002g0012 a0001c0001t0002g0018 others(23): Show |
50 | HG00323.hp1 HG00544.hp1 HG00639.hp2 others(47): Show |
intron_variant | MODIFIER | c.441+4433delT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117535239 | ||||||
| chr8:117535282 | T | C | 1 | a0001c0001t0002g0047 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.441+4455T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535282 | |||||||
| chr8:117535284 | AC | A | 4 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(1): Show |
5 | HG00544.hp1 HG02132.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.441+4460delC | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117535284 | ||||||
| chr8:117535307 | C | T | 2 | a0001c0001t0001g0111 a0001c0001t0002g0064 |
2 | HG01884.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.441+4480C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535307 | |||||||
| chr8:117535365 | G | T | 11 | a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0024 others(8): Show |
27 | HG01256.hp1 HG02622.hp1 HG02809.hp2 others(24): Show |
intron_variant | MODIFIER | c.442-4518G>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535365 | |||||||
| chr8:117535535 | C | CT | 4 | a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0006g0019 others(1): Show |
6 | HG02165.hp1 HG02165.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-4337dupT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117535535 | ||||||
| chr8:117535566 | C | T | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-4317C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535566 | |||||||
| chr8:117535569 | G | A | 15 | a0001c0001t0004g0004 a0001c0001t0004g0013 a0001c0001t0004g0021 others(12): Show |
40 | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(37): Show |
intron_variant | MODIFIER | c.442-4314G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535569 | |||||||
| chr8:117535579 | C | T | 6 | a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0100 others(3): Show |
6 | HG02083.hp2 NA18946.hp1 NA18956.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-4304C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535579 | |||||||
| chr8:117535677 | A | G | 28 | a0001c0001t0001g0111 a0001c0001t0002g0002 a0001c0001t0002g0006 others(25): Show |
67 | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.442-4206A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535677 | |||||||
| chr8:117535781 | T | G | 6 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(3): Show |
9 | HG00544.hp1 HG02132.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.442-4102T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535781 | |||||||
| chr8:117535801 | T | C | 1 | a0001c0001t0002g0049 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.442-4082T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117535801 | |||||||
| chr8:117536058 | A | G | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-3825A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117536058 | |||||||
| chr8:117536123 | T | C | 1 | a0001c0001t0002g0050 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.442-3760T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117536123 | |||||||
| chr8:117536585 | T | C | 1 | a0001c0001t0001g0099 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.442-3298T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117536585 | |||||||
| chr8:117536700 | C | T | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.442-3183C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117536700 | |||||||
| chr8:117536711 | T | C | 1 | a0001c0001t0001g0100 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.442-3172T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117536711 | |||||||
| chr8:117536767 | T | G | 8 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(5): Show |
14 | HG00544.hp1 HG01243.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.442-3116T>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117536767 | |||||||
| chr8:117537072 | C | T | 1 | a0001c0001t0002g0069 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.442-2811C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117537072 | |||||||
| chr8:117537073 | G | A | 1 | a0001c0001t0001g0070 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.442-2810G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117537073 | |||||||
| chr8:117537137 | T | C | 19 | a0001c0001t0002g0056 a0001c0001t0003g0005 a0001c0001t0003g0007 others(16): Show |
44 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(41): Show |
intron_variant | MODIFIER | c.442-2746T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117537137 | |||||||
| chr8:117537208 | A | G | 10 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(7): Show |
18 | HG00544.hp1 HG01243.hp1 HG01884.hp2 others(15): Show |
intron_variant | MODIFIER | c.442-2675A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117537208 | |||||||
| chr8:117537271 | G | A | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-2612G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117537271 | |||||||
| chr8:117537572 | A | C | 1 | a0001c0001t0001g0098 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.442-2311A>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117537572 | |||||||
| chr8:117537759 | G | A | 1 | a0001c0001t0003g0058 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.442-2124G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117537759 | |||||||
| chr8:117537788 | G | GT | 9 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0071 others(6): Show |
11 | HG01175.hp1 HG01346.hp1 HG01952.hp2 others(8): Show |
intron_variant | MODIFIER | c.442-2090dupT | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117537788 | ||||||
| chr8:117537889 | GAA | G | 2 | a0001c0001t0002g0028 a0002c0002t0002g0017 |
5 | HG02630.hp1 HG02895.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.442-1991_442-1990d others(4): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117537889 | ||||||
| chr8:117538651 | T | C | 29 | a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0002g0002 others(26): Show |
68 | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.442-1232T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117538651 | |||||||
| chr8:117538663 | A | T | 7 | a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0026 others(4): Show |
16 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(13): Show |
intron_variant | MODIFIER | c.442-1220A>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117538663 | |||||||
| chr8:117538990 | A | C | 6 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(3): Show |
9 | HG00544.hp1 HG02132.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.442-893A>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117538990 | |||||||
| chr8:117539015 | T | TAACA | 4 | a0001c0001t0005g0010 a0001c0001t0005g0036 a0001c0001t0005g0134 others(1): Show |
9 | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.442-867_442-864dup others(4): Show |
MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117539015 | ||||||
| chr8:117539019 | A | G | 1 | a0001c0001t0001g0039 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.442-864A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539019 | |||||||
| chr8:117539066 | A | G | 29 | a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0002g0002 others(26): Show |
68 | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(65): Show |
intron_variant | MODIFIER | c.442-817A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539066 | |||||||
| chr8:117539162 | G | A | 1 | a0001c0001t0001g0102 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.442-721G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539162 | |||||||
| chr8:117539199 | T | C | 6 | a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(3): Show |
9 | HG00544.hp1 HG02132.hp2 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.442-684T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539199 | |||||||
| chr8:117539217 | G | A | 1 | a0001c0001t0002g0069 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.442-666G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539217 | |||||||
| chr8:117539364 | C | T | 4 | a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 others(1): Show |
4 | HG00639.hp2 HG00733.hp2 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-519C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539364 | |||||||
| chr8:117539374 | T | C | 92 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0039 others(89): Show |
196 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(193): Show |
intron_variant | MODIFIER | c.442-509T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539374 | |||||||
| chr8:117539467 | GA | G | 7 | a0001c0001t0001g0097 a0001c0001t0004g0035 a0001c0001t0004g0132 others(4): Show |
13 | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.442-402delA | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117539467 | ||||||
| chr8:117539575 | T | C | 1 | a0001c0001t0001g0109 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.442-308T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539575 | |||||||
| chr8:117539603 | T | C | 7 | a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0026 others(4): Show |
16 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(13): Show |
intron_variant | MODIFIER | c.442-280T>C | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539603 | |||||||
| chr8:117539661 | G | A | 11 | a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0024 others(8): Show |
27 | HG01256.hp1 HG02622.hp1 HG02809.hp2 others(24): Show |
intron_variant | MODIFIER | c.442-222G>A | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539661 | |||||||
| chr8:117539748 | AC | A | 2 | a0001c0001t0006g0019 a0001c0001t0006g0133 |
4 | HG02572.hp1 HG02647.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-133delC | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | 117539748 | ||||||
| chr8:117539793 | A | G | 3 | a0001c0001t0003g0026 a0001c0001t0003g0060 a0001c0001t0003g0061 |
4 | HG00323.hp1 HG00642.hp2 HG00738.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-90A>G | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539793 | |||||||
| chr8:117539829 | C | T | 1 | a0001c0001t0002g0028 | 2 | HG02895.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.442-54C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539829 | |||||||
| chr8:117539853 | C | T | 1 | a0001c0001t0001g0122 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.442-30C>T | MED30 | ENSG00000164758.7 | transcript | ENST00000297347.7 | protein_coding | 3/3 | chr8 | 117539853 |