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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERBIN_chr5_65921575_66087546 | 66050226 | C | CTTTTT | intron_variant | MODIFIER | HG00673.hp2 NA18944.hp1 NA18954.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0003a0002c0003t0005 | a0001c0002t0002g0256a0002c0003t0003g0181a0002c0003t0003g0281others(3): Show | 6 | 306 | 0.0196 | 5 | c.190 others(22): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1092001 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00741.hp1 others(15): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0020a0001c0001t0021others(15): Show | a0001c0001t0003g0035a0001c0001t0020g0113a0001c0001t0021g0116others(15): Show | 18 | 162 | 0.1111 | 5 | c.108 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1146308 | G | GTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01106.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0003a0001c0001t0021a0001c0001t0024others(18): Show | a0001c0001t0003g0029a0001c0001t0021g0116a0001c0001t0024g0112others(18): Show | 21 | 162 | 0.1296 | 5 | c.173 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1164231 | T | TTTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(42): Show | a0001c0001t0004g0078a0001c0001t0005g0041a0001c0001t0008g0086others(42): Show | 45 | 162 | 0.2778 | 5 | c.173 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1197906 | T | TTTTTG | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG02735.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0068a0001c0001t0124others(1): Show | a0001c0001t0013g0015a0001c0001t0068g0083a0001c0001t0124g0050others(1): Show | 4 | 162 | 0.0247 | 5 | c.235 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1219635 | C | CTCTTT | intron_variant | MODIFIER | HG01109.hp1 HG01358.hp2 HG01884.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0138a0002c0002t0001a0002c0002t0002others(15): Show | a0001c0001t0138g0095a0002c0002t0001g0149a0002c0002t0001g0152others(20): Show | 23 | 162 | 0.1420 | 5 | c.235 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1219635 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG01261.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0019a0001c0001t0024others(9): Show | a0001c0001t0013g0015a0001c0001t0019g0120a0001c0001t0024g0112others(9): Show | 12 | 162 | 0.0741 | 5 | c.235 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1259520 | C | CTTTCT | intron_variant | MODIFIER | HG01175.hp2 HG01257.hp1 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0030a0001c0001t0045others(3): Show | a0001c0001t0019g0120a0001c0001t0030g0109a0001c0001t0045g0066others(3): Show | 6 | 162 | 0.0370 | 5 | c.248 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1261666 | C | CTTTTG | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02559.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0130a0001c0001t0133a0002c0002t0002others(2): Show | a0001c0001t0130g0102a0001c0001t0133g0094a0002c0002t0002g0087others(5): Show | 8 | 162 | 0.0494 | 5 | c.248 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1262860 | C | CCTTTA | intron_variant | MODIFIER | HG00741.hp1 HG01257.hp1 HG01496.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0050others(8): Show | a0001c0001t0004g0075a0001c0001t0005g0041a0001c0001t0050g0144others(8): Show | 11 | 162 | 0.0679 | 5 | c.248 others(22): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1274462 | C | CTATTT | intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0045a0002c0002t0016 | a0001c0001t0045g0066a0002c0002t0016g0098a0002c0002t0016g0101 | 3 | 162 | 0.0185 | 5 | c.261 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1304779 | C | CTTTTT | intron_variant | MODIFIER | HG01261.hp1 HG01952.hp2 HG02615.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0013a0001c0001t0019others(3): Show | a0001c0001t0011g0034a0001c0001t0013g0015a0001c0001t0019g0120others(3): Show | 6 | 162 | 0.0370 | 5 | c.278 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1309931 | C | CTTTTG | intron_variant | MODIFIER | HG01346.hp2 HG02976.hp1 HG03225.hp1 others(1): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0042a0002c0002t0072a0002c0002t0081others(1): Show | a0002c0002t0042g0079a0002c0002t0072g0145a0002c0002t0081g0123others(1): Show | 4 | 162 | 0.0247 | 5 | c.278 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1310209 | T | TTTTTA | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp1 HG01257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0095a0001c0001t0112a0001c0001t0113others(3): Show | a0001c0001t0095g0019a0001c0001t0112g0052a0001c0001t0113g0062others(3): Show | 6 | 162 | 0.0370 | 5 | c.278 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1310214 | A | ATTTTG | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02622.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0130a0001c0001t0133a0002c0002t0038others(1): Show | a0001c0001t0130g0102a0001c0001t0133g0094a0002c0002t0038g0082others(1): Show | 4 | 162 | 0.0247 | 5 | c.278 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1315341 | T | TTTTTG | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0045a0001c0001t0130a0001c0001t0133others(2): Show | a0001c0001t0045g0066a0001c0001t0130g0102a0001c0001t0133g0094others(2): Show | 5 | 162 | 0.0309 | 5 | c.278 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1356212 | A | AGTGTG | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01358.hp2 others(11): Show |
a0002a0005 | a0002c0002a0005c0010 | a0002c0002t0001a0002c0002t0006a0002c0002t0039others(9): Show | a0002c0002t0001g0149a0002c0002t0001g0152a0002c0002t0006g0122others(11): Show | 14 | 162 | 0.0864 | 5 | c.278 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1361098 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02886.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0076 | a0002c0002t0002g0087a0002c0002t0002g0089a0002c0002t0002g0090others(2): Show | 5 | 162 | 0.0309 | 5 | c.278 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1386664 | A | AAAAAT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0019a0001c0001t0020others(15): Show | a0001c0001t0011g0034a0001c0001t0019g0120a0001c0001t0020g0113others(15): Show | 18 | 162 | 0.1111 | 5 | c.292 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1431513 | A | ATTTTC | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG01346.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0023others(14): Show | a0001c0001t0004g0075a0001c0001t0004g0078a0001c0001t0011g0034others(18): Show | 21 | 162 | 0.1296 | 5 | c.302 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1460958 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02258.hp2 others(8): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0026a0002c0002t0035a0002c0002t0036others(8): Show | a0002c0002t0026g0115a0002c0002t0035g0143a0002c0002t0036g0158others(8): Show | 11 | 162 | 0.0679 | 5 | c.321 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1465291 | T | TTCCGG | intron_variant | MODIFIER | HG02717.hp2 HG03516.hp2 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0136a0002c0007t0059 | a0002c0002t0136g0100a0002c0007t0059g0071 | 2 | 162 | 0.0124 | 5 | c.321 others(26): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1484070 | C | CCAAAG | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00639.hp2 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0013others(5): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(57): Show | a0001c0001t0004g0075a0001c0001t0004g0078a0001c0001t0007g0044others(64): Show | 67 | 162 | 0.4136 | 5 | c.321 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1486411 | T | TTTTTA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(42): Show | a0001c0001t0007g0044a0001c0001t0007g0048a0001c0001t0008g0010others(49): Show | 52 | 162 | 0.3210 | 5 | c.321 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1487326 | C | CTTTCT | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02109.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0036a0002c0002t0039others(14): Show | a0002c0002t0006g0122a0002c0002t0006g0125a0002c0002t0036g0158others(15): Show | 18 | 162 | 0.1111 | 5 | c.321 others(24): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC2_chr3_55503311_56473467 | 55635857 | T | TTTTTA | intron_variant | MODIFIER | HG01167.hp1 HG03098.hp1 NA19030.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0002g0055others(3): Show | 6 | 74 | 0.0811 | 5 | c.*39 others(24): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55705857 | C | CTTTTA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01934.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0038a0001c0001t0002g0019others(6): Show | 9 | 74 | 0.1216 | 5 | c.271 others(24): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55766349 | A | ATTGAT | intron_variant | MODIFIER | HG01934.hp1 HG02630.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0033a0001c0001t0002g0064a0001c0001t0008g0030 | 3 | 74 | 0.0405 | 5 | c.256 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55793063 | C | CTTATT | intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0052a0001c0001t0010g0045 | 2 | 74 | 0.0270 | 5 | c.256 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55845503 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01934.hp2 HG02723.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0052a0001c0001t0002g0012a0001c0001t0002g0019others(6): Show | 9 | 74 | 0.1216 | 5 | c.256 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55854361 | G | GTTGTT | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0012a0001c0002t0001 | a0001c0001t0002g0012a0001c0001t0002g0021a0001c0001t0002g0036others(2): Show | 5 | 74 | 0.0676 | 5 | c.256 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55854386 | T | TTTTGG | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0004 | a0001c0001t0006g0026a0001c0001t0006g0027a0001c0002t0004g0001 | 3 | 74 | 0.0405 | 5 | c.256 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56021575 | A | ATTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01346.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0059a0001c0001t0001g0062others(13): Show | 16 | 74 | 0.2162 | 5 | c.164 others(24): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56126807 | G | GAAGGA | intron_variant | MODIFIER | HG02145.hp1 HG02738.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0038a0001c0001t0001g0050a0001c0001t0002g0054others(2): Show | 5 | 74 | 0.0676 | 5 | c.147 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56170591 | T | TTTTTG | intron_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG01169.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0041a0001c0001t0001g0048others(9): Show | 12 | 74 | 0.1622 | 5 | c.114 others(24): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 4/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56170763 | A | ATTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01167.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0061a0001c0001t0002g0019others(13): Show | 16 | 74 | 0.2162 | 5 | c.114 others(24): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 4/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56196378 | A | AAGTAT | intron_variant | MODIFIER | HG02647.hp1 HG03098.hp1 HG03834.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0040a0001c0001t0005g0071a0001c0001t0007g0002others(2): Show | 5 | 74 | 0.0676 | 5 | c.107 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56202501 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG02040.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0061a0001c0001t0002g0032a0001c0001t0003g0068others(1): Show | 4 | 74 | 0.0541 | 5 | c.107 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56204476 | C | CTTTTA | intron_variant | MODIFIER | HG01934.hp1 HG02258.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0008g0030others(2): Show | 5 | 74 | 0.0676 | 5 | c.107 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56259647 | T | TTGATA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02723.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0033a0001c0001t0002g0012a0001c0001t0002g0072others(5): Show | 8 | 74 | 0.1081 | 5 | c.107 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56266030 | A | AAAAAT | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0035a0001c0001t0002g0054a0001c0001t0005g0063others(1): Show | 4 | 74 | 0.0541 | 5 | c.107 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 56348337 | C | CATCAT | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01071.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0005a0001c0001t0002g0032a0001c0001t0002g0072others(15): Show | 18 | 74 | 0.2432 | 5 | c.658 others(24): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45409896 | T | TTATTA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00673.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018a0001c0001t0019others(3): Show | a0001c0001t0003g0003a0001c0001t0003g0005a0001c0001t0003g0009others(42): Show | 68 | 420 | 0.1619 | 5 | c.844 others(20): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | ||||||
ERCC1_chr19_45402334_45428917 | 45426378 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01255.hp2 HG01257.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0043a0001c0001t0001g0255others(24): Show | 31 | 420 | 0.0738 | 5 | c.-26 others(16): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 2462 | chr19 | TogoVar | ||||||
ERCC2_chr19_45344837_45375573 | 45366147 | A | ATATTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(268): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0009others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(193): Show | 271 | 412 | 0.6578 | 5 | c.361 others(20): Show |
ERCC2 | ENSG00000104884.17 | transcript | ENST00000391945.10 | protein_coding | 5/22 | chr19 | TogoVar | ||||||
ERCC4_chr16_13915154_13957348 | 13954389 | A | ATAAAT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(125): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(16): Show | a0001c0001t0003g0021a0001c0001t0003g0039a0001c0001t0003g0158others(67): Show | 128 | 340 | 0.3765 | 5 | c.*60 others(16): Show |
ERCC4 | ENSG00000175595.16 | transcript | ENST00000311895.8 | protein_coding | 2042 | chr16 | TogoVar | ||||||
ERCC5_chr13_102841032_102880995 | 102869450 | A | ACTTCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0008others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(44): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0011others(263): Show | 390 | 394 | 0.9899 | 5 | c.267 others(24): Show |
ERCC5 | ENSG00000134899.24 | transcript | ENST00000652225.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ERCC6L2_chr9_95870691_96023447 | 96015015 | G | GTTTTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(61): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0006others(2): Show | a0001c0001t0014a0001c0001t0036a0001c0001t0069others(12): Show | a0001c0001t0014g0001a0001c0001t0014g0039a0001c0001t0014g0042others(60): Show | 64 | 392 | 0.1633 | 5 | c.*18 others(16): Show |
ERCC6L2 | ENSG00000182150.19 | transcript | ENST00000653738.2 | protein_coding | 19/19 | 1838 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
ERCC6_chr10_49449470_49544121 | 49506412 | G | GATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0005others(36): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0023others(61): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0005others(312): Show | 357 | 388 | 0.9201 | 5 | c.139 others(22): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000355832.10 | protein_coding | 5/20 | chr10 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60895977 | A | ATTTCT | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG01891.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0022others(5): Show | a0001c0001t0007g0015a0001c0001t0007g0016a0001c0001t0007g0018others(26): Show | 30 | 302 | 0.0993 | 5 | c.843 others(22): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 9/11 | chr5 | TogoVar |