| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(525): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0096 | 1 | 326 | 0.0031 | 532 | c.358 others(549): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(525): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0106a0001c0002t0003g0125 | 2 | 326 | 0.0061 | 532 | c.358 others(549): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690701 | T | TATATATT others(525): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038a0001c0001t0003g0039 | 2 | 326 | 0.0061 | 532 | c.358 others(549): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 40084638 | T | TCTATCGA others(525): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0084a0001c0006t0006g0085 | 2 | 170 | 0.0118 | 532 | c.332 others(551): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | chr3 | TogoVar | ||||||
| NDUFA3_chr19_54097855_54112568 | 54109835 | C | CTCCACCC others(525): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 NA18978.hp1 NA19057.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066a0001c0002t0001g0068a0001c0002t0001g0076 | 3 | 439 | 0.0068 | 532 | c.*29 others(543): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2268 | chr19 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(525): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18967.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0004t0003 | a0001c0001t0013g0193a0001c0004t0003g0194 | 2 | 362 | 0.0055 | 532 | c.-75 others(551): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(525): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 | 1 | 362 | 0.0028 | 532 | c.-75 others(551): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(525): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03098.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105a0001c0002t0001g0108 | 2 | 244 | 0.0082 | 532 | c.342 others(551): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | ||||||
| NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(525): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 244 | 0.0041 | 532 | c.342 others(551): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | ||||||
| NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(525): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100a0001c0002t0001g0101a0001c0002t0001g0102 | 3 | 244 | 0.0123 | 532 | c.342 others(551): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768606 | G | GGAGGGAG others(525): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0105 | 1 | 386 | 0.0026 | 532 | c.*92 others(543): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3703 | chr12 | TogoVar | ||||||
| NUP42_chr7_23177048_23206006 | 23205996 | C | CCGCCCCC others(525): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 364 | 0.0028 | 532 | c.*52 others(543): Show |
NUP42 | ENSG00000136243.18 | transcript | ENST00000258742.10 | protein_coding | 4991 | chr7 | TogoVar | ||||||
| NUP93_chr16_56725129_56855286 | 56739517 | G | GGGGGGGC others(525): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 378 | 0.0027 | 532 | c.-14 others(549): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| OR6J1_chr14_22625929_22649352 | 22637546 | G | GCGCCCCG others(525): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 362 | 0.0028 | 532 | c.-27 others(549): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| P2RX3_chr11_57333352_57377396 | 57376524 | A | ATCCCCCC others(525): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0165 | 1 | 354 | 0.0028 | 532 | c.*65 others(543): Show |
P2RX3 | ENSG00000109991.10 | transcript | ENST00000263314.3 | protein_coding | 4129 | chr11 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 716525 | T | TGTCGGTG others(525): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 366 | 0.0027 | 532 | c.-19 others(553): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 716525 | T | TGTCGGTG others(525): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG01358.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0002g0013a0001c0001t0003g0029a0001c0001t0003g0035others(3): Show | 6 | 366 | 0.0164 | 532 | c.-19 others(553): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 716525 | T | TGTCGGTG others(525): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0014 | 1 | 366 | 0.0027 | 532 | c.-19 others(553): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 716525 | T | TGTCGGTG others(525): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01070.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(4): Show | a0001c0001t0003g0017a0001c0001t0003g0033a0001c0001t0003g0036others(7): Show | 10 | 366 | 0.0273 | 532 | c.-19 others(553): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 716525 | T | TGTCGGTG others(525): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0037 | 1 | 366 | 0.0027 | 532 | c.-19 others(553): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76305717 | T | TGTATCCA others(525): Show |
intron_variant | MODIFIER | HG02258.hp2 NA21309.hp1 |
a0004a0035 | a0004c0070a0035c0055 | a0004c0070t0042a0035c0055t0010 | a0004c0070t0042g0050a0035c0055t0010g0002 | 2 | 166 | 0.0121 | 532 | c.360 others(551): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76305717 | T | TGTATCCA others(525): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01496.hp1 others(8): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0016a0004c0026others(7): Show | a0001c0001t0002a0002c0016t0020a0004c0026t0052others(8): Show | a0001c0001t0002g0112a0002c0016t0020g0057a0004c0026t0052g0089others(8): Show | 11 | 166 | 0.0663 | 532 | c.360 others(551): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76305717 | T | TGTATCCA others(525): Show |
intron_variant | MODIFIER | HG00741.hp1 HG06807.hp1 |
a0002a0007 | a0002c0094a0007c0076 | a0002c0094t0025a0007c0076t0001 | a0002c0094t0025g0090a0007c0076t0001g0029 | 2 | 166 | 0.0121 | 532 | c.360 others(551): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PDCD6_chr5_266646_319974 | 309566 | T | TGTCCCCG others(525): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 360 | 0.0028 | 532 | c.368 others(549): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDCD6_chr5_266646_319974 | 309747 | C | CCCAGTGA others(525): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0066a0001c0001t0002g0067 | 4 | 360 | 0.0111 | 532 | c.368 others(549): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PLEC_chr8_143910153_143944597 | 143928395 | A | AGCGGCGG others(525): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0077 | a0077c0098 | a0077c0098t0003 | a0077c0098t0003g0143 | 1 | 358 | 0.0028 | 532 | c.326 others(549): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000345136.8 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
| PLEC_chr8_143910153_143944597 | 143928664 | C | CAGCGGGT others(525): Show |
intron_variant | MODIFIER | HG03471.hp1 NA21309.hp2 |
a0007a0074 | a0007c0039a0074c0182 | a0007c0039t0003a0074c0182t0004 | a0007c0039t0003g0043a0074c0182t0004g0265 | 2 | 358 | 0.0056 | 532 | c.326 others(549): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000345136.8 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
| PLEC_chr8_143910153_143944597 | 143928664 | C | CAGCGGGT others(525): Show |
intron_variant | MODIFIER | HG02486.hp1 NA20129.hp1 |
a0023 | a0023c0027 | a0023c0027t0003 | a0023c0027t0003g0031 | 2 | 358 | 0.0056 | 532 | c.326 others(549): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000345136.8 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
| PLEC_chr8_143910153_143944597 | 143928664 | C | CAGCGGGT others(525): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02809.hp1 others(1): Show |
a0004a0033 | a0004c0008a0004c0099a0033c0199 | a0004c0008t0003a0004c0099t0003a0033c0199t0003 | a0004c0008t0003g0027a0004c0099t0003g0144a0033c0199t0003g0229 | 4 | 358 | 0.0112 | 532 | c.326 others(549): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000345136.8 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
| PLEC_chr8_143910153_143978529 | 143928395 | A | AGCGGCGG others(525): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0072 | a0072c0087 | a0072c0087t0003 | a0072c0087t0003g0076 | 1 | 302 | 0.0033 | 532 | c.321 others(549): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
| PLEC_chr8_143910153_143978529 | 143928664 | C | CAGCGGGT others(525): Show |
intron_variant | MODIFIER | HG03471.hp1 NA21309.hp2 |
a0007a0069 | a0007c0035a0069c0158 | a0007c0035t0003a0069c0158t0004 | a0007c0035t0003g0100a0069c0158t0004g0006 | 2 | 302 | 0.0066 | 532 | c.321 others(549): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
| PLEC_chr8_143910153_143978529 | 143928664 | C | CAGCGGGT others(525): Show |
intron_variant | MODIFIER | HG02486.hp1 NA20129.hp1 |
a0021 | a0021c0023 | a0021c0023t0003 | a0021c0023t0003g0151a0021c0023t0003g0211 | 2 | 302 | 0.0066 | 532 | c.321 others(549): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
| PLEC_chr8_143910153_143978529 | 143928664 | C | CAGCGGGT others(525): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG03486.hp2 |
a0004a0032 | a0004c0008a0032c0173 | a0004c0008t0003a0032c0173t0003 | a0004c0008t0003g0239a0004c0008t0003g0254a0032c0173t0003g0212 | 3 | 302 | 0.0099 | 532 | c.321 others(549): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(525): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0006 | a0006c0071 | a0006c0071t0018 | a0006c0071t0018g0202 | 1 | 210 | 0.0048 | 532 | c.45+ others(543): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 101254 | G | GGAGAGAC others(525): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0008 | a0008c0079 | a0008c0079t0068 | a0008c0079t0068g0173 | 1 | 210 | 0.0048 | 532 | c.45+ others(547): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PPP1R14C_chr6_150138044_150255392 | 150167968 | T | TTCTCCCC others(525): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 312 | 0.0032 | 532 | c.306 others(551): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PRG3_chr11_57371769_57386150 | 57376524 | A | ATCCCCCC others(525): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 396 | 0.0025 | 532 | c.*32 others(541): Show |
PRG3 | ENSG00000156575.2 | transcript | ENST00000287143.2 | protein_coding | 244 | chr11 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 492359 | G | GCCCTCCC others(525): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0005 | a0003c0005t0014 | a0003c0005t0014g0024 | 1 | 295 | 0.0034 | 532 | c.126 others(551): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 504249 | T | TCCTCCTG others(525): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 295 | 0.0034 | 532 | c.139 others(551): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAMACL_chr6_166578009_166591678 | 166581968 | C | CCCACTCG others(525): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0000 | 1 | 442 | 0.0023 | 532 | c.*41 others(543): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1040 | chr6 | TogoVar | ||||||
| RAMACL_chr6_166578009_166591678 | 166581992 | G | GGAGAGCA others(525): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 NA18975.hp2 NA18983.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0000a0001c0001t0008g0000 | 7 | 442 | 0.0158 | 532 | c.*41 others(543): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1016 | chr6 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679116 | G | GTTTATAA others(525): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 308 | 0.0033 | 532 | c.-75 others(551): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679116 | G | GTTTATAA others(525): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 308 | 0.0033 | 532 | c.-75 others(551): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679116 | G | GTTTATAA others(525): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 308 | 0.0033 | 532 | c.-75 others(551): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679116 | G | GTTTATAA others(525): Show |
intron_variant | MODIFIER | HG01975.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0094a0001c0001t0002g0083 | 2 | 308 | 0.0065 | 532 | c.-75 others(551): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 273097 | G | GACGTCAG others(525): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0099 | 1 | 133 | 0.0075 | 532 | c.438 others(549): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 273567 | G | GAGGGTGA others(525): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0121 | 1 | 133 | 0.0075 | 532 | c.438 others(549): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| RPS6KA2_chr6_166404364_166632251 | 166581992 | G | GGAGAGCA others(525): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0231 | 1 | 244 | 0.0041 | 532 | c.100 others(551): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 1/20 | chr6 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934400 | G | GGGGGAGG others(525): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0275 | 1 | 434 | 0.0023 | 532 | c.843 others(549): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934861 | G | GCGTTACA others(525): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 434 | 0.0023 | 532 | c.843 others(547): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |