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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EMCN_chr4_100390341_100523022 | 100475659 | CTTTTTT | C | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG00738.hp2 others(32): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0182a0001c0001t0002g0003a0001c0001t0002g0127others(31): Show | 35 | 262 | 0.1336 | -6 | c.188 others(21): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
EMD_chrX_154374295_154386523 | 154375871 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 284 | 0.0035 | -6 | c.-36 others(17): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 3423 | chrX | TogoVar | ||||||
EMD_chrX_154374295_154386523 | 154377864 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 284 | 0.0035 | -6 | c.-16 others(17): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 1430 | chrX | TogoVar | ||||||
EMD_chrX_154374295_154386523 | 154381263 | CAGTGGG | C | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 284 | 0.0035 | -6 | c.*67 others(13): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 6/6 | 67 | chrX | TogoVar | |||||
EMD_chrX_154374295_154386523 | 154381279 | GGGGGCA | G | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 3 | 284 | 0.0106 | -6 | c.*94 others(13): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 6/6 | 94 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
EMID1_chr22_29200896_29264597 | 29221066 | CGTGTGT | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0003c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0239a0001c0002t0001g0315a0001c0002t0002g0012others(47): Show | 50 | 348 | 0.1437 | -6 | c.320 others(23): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EMID1_chr22_29200896_29264597 | 29238254 | AATTATT | A | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01167.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0003c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(7): Show | a0001c0002t0001g0093a0001c0002t0001g0188a0001c0002t0001g0189others(23): Show | 26 | 348 | 0.0747 | -6 | c.107 others(25): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EMILIN1_chr2_27073615_27091403 | 27081108 | CGTGTGT | C | intron_variant | MODIFIER | HG01099.hp2 HG01496.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0049 | 7 | 316 | 0.0222 | -6 | c.511 others(21): Show |
EMILIN1 | ENSG00000138080.14 | transcript | ENST00000380320.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2858522 | CATATAT | C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG01358.hp1 others(9): Show |
a0001a0002a0018 | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0321a0001c0001t0003g0269a0001c0001t0003g0410others(9): Show | 12 | 452 | 0.0266 | -6 | c.257 others(25): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EMILIN2_chr18_2842006_2921003 | 2869780 | GTGTGTT | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02055.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0009others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(9): Show | a0001c0001t0002g0030a0001c0001t0005g0065a0001c0001t0005g0235others(12): Show | 15 | 452 | 0.0332 | -6 | c.258 others(25): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99796186 | CAGAGAG | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0007a0001c0004t0004 | a0001c0003t0001g0015a0001c0003t0001g0016a0001c0003t0001g0286others(3): Show | 6 | 288 | 0.0208 | -6 | c.67+ others(21): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99849525 | GTGTGTA | G | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0002 | a0001c0003t0005a0001c0004t0001a0001c0004t0005others(1): Show | a0001c0003t0005g0246a0001c0003t0005g0247a0001c0004t0001g0123others(4): Show | 7 | 288 | 0.0243 | -6 | c.68- others(21): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99904546 | CTTATTA | C | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00609.hp2 others(47): Show |
a0001a0002a0007 | a0001c0003a0001c0004a0002c0006others(1): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0007others(10): Show | a0001c0003t0003g0279a0001c0003t0004g0027a0001c0003t0004g0141others(47): Show | 50 | 288 | 0.1736 | -6 | c.100 others(25): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99919419 | CACACAG | C | intron_variant | MODIFIER | HG02451.hp2 HG03130.hp2 HG03453.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0007a0001c0004t0001a0001c0004t0010 | a0001c0003t0007g0014a0001c0004t0001g0255a0001c0004t0010g0235 | 3 | 288 | 0.0104 | -6 | c.182 others(25): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42209284 | TACTTTA | T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001a0001c0001t0007g0015a0001c0001t0007g0016 | 5 | 358 | 0.0140 | -6 | c.26- others(23): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42220236 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp1 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0122a0001c0001t0002g0187a0001c0001t0003g0119others(84): Show | 87 | 358 | 0.2430 | -6 | c.26- others(23): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42306484 | CTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02300.hp2 HG02572.hp2 others(9): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0019others(4): Show | a0001c0001t0003g0167a0001c0001t0003g0176a0001c0001t0003g0194others(9): Show | 12 | 358 | 0.0335 | -6 | c.196 others(25): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42325595 | ATTATAT | A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG02602.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0029a0002c0002t0001g0034a0002c0002t0001g0035others(2): Show | 5 | 358 | 0.0140 | -6 | c.224 others(21): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42325602 | TTATATA | T | intron_variant | MODIFIER | HG02015.hp1 NA18947.hp1 NA18960.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0012 | a0001c0001t0002g0231a0003c0003t0012g0257a0003c0003t0012g0258others(1): Show | 4 | 358 | 0.0112 | -6 | c.224 others(21): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML5_chr14_88607431_88797953 | 88645053 | GTTTCAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(59): Show |
a0001a0007a0011 | a0001c0001a0001c0006a0007c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0199a0001c0001t0001g0201a0001c0001t0001g0280others(59): Show | 62 | 332 | 0.1868 | -6 | c.402 others(23): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 29/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88674272 | AAACAAC | A | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG03453.hp2 |
a0003 | a0003c0005 | a0003c0005t0015 | a0003c0005t0015g0013a0003c0005t0015g0014a0003c0005t0015g0015 | 3 | 332 | 0.0090 | -6 | c.312 others(25): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 21/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88695209 | CTATGAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(87): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0017a0002c0002t0001a0002c0002t0003others(10): Show | a0001c0001t0017g0010a0001c0001t0017g0011a0002c0002t0001g0193others(87): Show | 90 | 332 | 0.2711 | -6 | c.243 others(23): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 16/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88717756 | AAACAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(174): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(29): Show | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0283others(171): Show | 177 | 332 | 0.5331 | -6 | c.118 others(25): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 8/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88733959 | TAACAAC | T | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01884.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0022others(7): Show | a0001c0001t0006g0208a0001c0001t0014g0004a0001c0001t0014g0005others(14): Show | 17 | 332 | 0.0512 | -6 | c.104 others(25): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 7/43 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796518 | TCTCTTA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp2 others(62): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0022others(9): Show | a0001c0001t0001g0199a0001c0001t0001g0201a0001c0001t0001g0280others(62): Show | 65 | 332 | 0.1958 | -6 | c.-40 others(17): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3566 | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54721735 | CTTATTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(43): Show | a0001c0001t0001g0034a0001c0001t0001g0048a0001c0001t0004g0029others(83): Show | 86 | 264 | 0.3258 | -6 | c.-25 others(17): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 1926 | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54744905 | TACACAC | T | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(9): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0016a0001c0002t0003others(7): Show | a0001c0001t0003g0145a0001c0001t0016g0031a0001c0002t0003g0139others(9): Show | 12 | 264 | 0.0455 | -6 | c.197 others(25): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54767626 | GTGTGTA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(58): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0034a0001c0001t0001g0194a0001c0001t0001g0244others(58): Show | 61 | 264 | 0.2311 | -6 | c.197 others(25): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54802618 | ATACTAC | A | intron_variant | MODIFIER | HG00738.hp1 HG01891.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0014a0001c0002t0001a0001c0003t0002others(5): Show | a0001c0001t0014g0170a0001c0002t0001g0019a0001c0003t0002g0153others(6): Show | 9 | 264 | 0.0341 | -6 | c.198 others(25): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54806612 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(82): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0034a0001c0001t0001g0048a0001c0001t0001g0152others(82): Show | 85 | 264 | 0.3220 | -6 | c.198 others(23): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54823872 | CTCTCTT | C | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0004a0001c0007 | a0001c0004t0016a0001c0007t0006a0001c0007t0029others(1): Show | a0001c0004t0016g0085a0001c0007t0006g0080a0001c0007t0029g0103others(1): Show | 4 | 264 | 0.0152 | -6 | c.525 others(23): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54905321 | GACACAC | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0076a0001c0001t0001g0177a0001c0001t0001g0187others(44): Show | 47 | 264 | 0.1780 | -6 | c.340 others(25): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 24/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54923367 | GCACACA | G | intron_variant | MODIFIER | HG02965.hp2 HG03540.hp2 NA18950.hp1 others(4): Show |
a0001a0007 | a0001c0003a0001c0005a0001c0011others(2): Show | a0001c0003t0002a0001c0005t0001a0001c0011t0012others(3): Show | a0001c0003t0002g0192a0001c0003t0002g0193a0001c0005t0001g0090others(4): Show | 7 | 264 | 0.0265 | -6 | c.367 others(25): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 26/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54929692 | ACCTCCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(60): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0202a0001c0001t0001g0211a0001c0001t0003g0145others(60): Show | 63 | 264 | 0.2386 | -6 | c.400 others(23): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EMP1_chr12_13191726_13224941 | 13192654 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0023others(43): Show | 83 | 444 | 0.1869 | -6 | c.-42 others(17): Show |
EMP1 | ENSG00000134531.10 | transcript | ENST00000256951.10 | protein_coding | 4071 | chr12 | TogoVar | ||||||
EMP1_chr12_13191726_13224941 | 13199014 | TGGGGCG | T | intron_variant | MODIFIER | NA18945.hp2 NA18978.hp2 NA18986.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0134 | 4 | 444 | 0.0090 | -6 | c.-43 others(23): Show |
EMP1 | ENSG00000134531.10 | transcript | ENST00000256951.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EMP1_chr12_13191726_13224941 | 13206927 | TTGTGTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00741.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0023others(46): Show | 79 | 444 | 0.1779 | -6 | c.-42 others(23): Show |
EMP1 | ENSG00000134531.10 | transcript | ENST00000256951.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EMP2_chr16_10523422_10585598 | 10525317 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0049others(14): Show | a0001c0001t0002g0208a0001c0001t0002g0218a0001c0001t0015g0004others(38): Show | 41 | 402 | 0.1020 | -6 | c.*75 others(17): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 3104 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10558478 | AGTGTGT | A | intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG02145.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0028a0001c0001t0099a0001c0002t0021others(3): Show | a0001c0001t0028g0145a0001c0001t0099g0374a0001c0002t0021g0254others(3): Show | 6 | 402 | 0.0149 | -6 | c.-60 others(25): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10562336 | TTCTCTC | T | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG00735.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0347a0001c0001t0002g0186a0001c0001t0003g0042others(35): Show | 40 | 402 | 0.0995 | -6 | c.-60 others(25): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10562376 | CTCTCTA | C | intron_variant | MODIFIER | HG03710.hp1 HG03834.hp2 NA18975.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0058a0001c0001t0106a0001c0002t0130 | a0001c0001t0058g0127a0001c0001t0106g0081a0001c0002t0130g0226 | 3 | 402 | 0.0075 | -6 | c.-60 others(25): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10575237 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0138others(44): Show | 47 | 402 | 0.1169 | -6 | c.-61 others(23): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10579708 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0025a0001c0001t0001g0152a0001c0001t0001g0174others(100): Show | 103 | 402 | 0.2562 | -6 | c.-61 others(21): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10581290 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0032a0001c0001t0001g0076a0001c0001t0001g0174others(69): Show | 72 | 402 | 0.1791 | -6 | c.-80 others(15): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 693 | chr16 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10581967 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG01123.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(9): Show | a0001c0001t0001g0300a0001c0001t0001g0363a0001c0001t0005g0306others(12): Show | 15 | 402 | 0.0373 | -6 | c.-14 others(17): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1370 | chr16 | TogoVar | ||||||
EMSY_chr11_76440018_76558031 | 76549497 | CTACATT | C | intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339a0001c0001t0001g0340a0001c0001t0001g0342others(2): Show | 5 | 360 | 0.0139 | -6 | c.382 others(23): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EMX2_chr10_117537746_117554546 | 117543131 | CCCCCCA | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0003g0018others(13): Show | 72 | 402 | 0.1791 | -6 | c.-12 others(15): Show |
EMX2 | ENSG00000170370.12 | transcript | ENST00000553456.5 | protein_coding | 1/3 | 115 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
EN1_chr2_118837171_118852648 | 118851472 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 6 | 442 | 0.0136 | -6 | c.-43 others(17): Show |
EN1 | ENSG00000163064.7 | transcript | ENST00000295206.7 | protein_coding | 3825 | chr2 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225585215 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp2 HG01109.hp2 others(71): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0001t0001g0270others(71): Show | 74 | 308 | 0.2403 | -6 | c.6-1 others(21): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225590082 | AACACAC | A | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp1 HG02080.hp1 others(12): Show |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(5): Show | a0001c0001t0002g0200a0001c0001t0003g0010a0001c0001t0003g0011others(12): Show | 15 | 308 | 0.0487 | -6 | c.6-2 others(21): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar |