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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB11FIP3_chr16_420649_528011 | 492507 | C | CCCAGGGC others(862): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0269 | 1 | 295 | 0.0034 | 869 | c.126 others(888): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(862): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0009 | 1 | 220 | 0.0046 | 869 | c.24+ others(886): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(862): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0061 | 1 | 220 | 0.0046 | 869 | c.24+ others(886): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(862): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 324 | 0.0031 | 869 | c.115 others(886): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(862): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0007a0001c0003t0016g0074 | 2 | 132 | 0.0152 | 869 | c.227 others(888): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9706026 | T | TTGGTGAT others(862): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0025 | 1 | 294 | 0.0034 | 869 | c.241 others(886): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(862): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0110 | 1 | 112 | 0.0089 | 869 | c.638 others(884): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(862): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 378 | 0.0027 | 869 | c.819 others(886): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(862): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02723.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0194a0001c0001t0002g0289a0001c0001t0002g0291others(1): Show | 4 | 378 | 0.0106 | 869 | c.819 others(886): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGACCAC others(862): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0147a0001c0005t0001g0150 | 2 | 392 | 0.0051 | 869 | c.228 others(888): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161579 | G | GACCCCTG others(862): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 388 | 0.0026 | 869 | c.*26 others(880): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2349 | chr11 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129857956 | A | AGAGTCCG others(862): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0064 | 1 | 94 | 0.0106 | 869 | c.79+ others(886): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(862): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0027 | a0001c0027t0002 | a0001c0027t0002g0086 | 1 | 114 | 0.0088 | 869 | c.-25 others(888): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TMPRSS9_chr19_2355265_2431261 | 2418721 | T | TCCTTCCC others(862): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 114 | 0.0088 | 869 | c.215 others(886): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870213 | C | CACACACA others(862): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 338 | 0.0030 | 869 | c.*35 others(888): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(862): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 238 | 0.0042 | 869 | c.392 others(886): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(862): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0196 | 1 | 238 | 0.0042 | 869 | c.392 others(886): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(862): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0271 | 1 | 302 | 0.0033 | 869 | c.-1- others(886): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(863): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0129 | 1 | 306 | 0.0033 | 870 | c.130 others(889): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TATATTTA others(863): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0017 | a0003c0017t0004 | a0003c0017t0004g0013 | 1 | 306 | 0.0033 | 870 | c.130 others(889): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288943 | C | CCGTGTCT others(863): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 295 | 0.0034 | 870 | c.*46 others(881): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3447 | chr1 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833057 | G | GACAGAAG others(863): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0125 | a0002c0125t0064 | a0002c0125t0064g0310 | 1 | 363 | 0.0028 | 870 | c.-48 others(887): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(863): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0228 | 1 | 336 | 0.0030 | 870 | c.94+ others(885): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(863): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0129 | 1 | 336 | 0.0030 | 870 | c.94+ others(885): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758764 | T | TCACCTGC others(863): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01981.hp2 |
a0010 | a0010c0017 | a0010c0017t0001a0010c0017t0002 | a0010c0017t0001g0273a0010c0017t0002g0297 | 2 | 300 | 0.0067 | 870 | c.654 others(889): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1077271 | C | CGGGAGGC others(863): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 326 | 0.0031 | 870 | c.*56 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4551 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078446 | G | GGCTGAGG others(863): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0260 | 1 | 326 | 0.0031 | 870 | c.*44 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3376 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078446 | G | GGCTGAGG others(863): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0206 | 1 | 326 | 0.0031 | 870 | c.*44 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3376 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078446 | G | GGCTGAGG others(863): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0310 | 1 | 326 | 0.0031 | 870 | c.*44 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3376 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078543 | G | GCTATGGG others(863): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 | 1 | 326 | 0.0031 | 870 | c.*43 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3279 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078543 | G | GCTATGGG others(863): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG02132.hp2 HG04184.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061a0001c0001t0003g0062a0001c0001t0003g0063others(3): Show | 6 | 326 | 0.0184 | 870 | c.*43 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3279 | chr1 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(863): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0344 | 1 | 354 | 0.0028 | 870 | c.-22 others(887): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585520 | A | AATGTTGA others(863): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0283a0001c0001t0011g0284 | 2 | 354 | 0.0057 | 870 | c.-22 others(887): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(863): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0304 | 1 | 354 | 0.0028 | 870 | c.-22 others(887): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(863): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0234 | 1 | 354 | 0.0028 | 870 | c.-22 others(887): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(863): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp2 HG03130.hp2 others(1): Show |
a0001a0002a0003 | a0001c0023a0002c0002a0003c0006 | a0001c0023t0006a0002c0002t0003a0003c0006t0007others(1): Show | a0001c0023t0006g0141a0002c0002t0003g0145a0003c0006t0007g0146others(1): Show | 4 | 384 | 0.0104 | 870 | c.82+ others(887): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(863): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 | 1 | 236 | 0.0042 | 870 | c.342 others(889): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(863): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18906.hp1 |
a0019a0025 | a0019c0038a0025c0028 | a0019c0038t0001a0025c0028t0001 | a0019c0038t0001g0113a0025c0028t0001g0100 | 2 | 236 | 0.0085 | 870 | c.342 others(889): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(863): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0134 | 1 | 236 | 0.0042 | 870 | c.342 others(889): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098092 | T | TAAATATA others(863): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0046 | 1 | 264 | 0.0038 | 870 | c.181 others(889): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(863): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0002t0005a0001c0006t0047others(3): Show | a0001c0001t0002g0023a0001c0002t0005g0025a0001c0006t0047g0019others(3): Show | 6 | 272 | 0.0221 | 870 | c.110 others(887): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(863): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(26): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0041a0001c0001t0002g0111a0001c0001t0002g0122others(26): Show | 29 | 272 | 0.1066 | 870 | c.110 others(887): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113232218 | G | GTCACCAC others(863): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 396 | 0.0025 | 870 | c.513 others(885): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878224 | A | AATATATA others(863): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0182a0002c0002t0001g0183 | 2 | 208 | 0.0096 | 870 | c.192 others(889): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(863): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0186 | 1 | 216 | 0.0046 | 870 | c.923 others(889): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1450265 | G | GCTGTGAC others(863): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0016 | 1 | 40 | 0.0250 | 870 | c.107 others(889): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915400 | C | CATTAAGG others(863): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 274 | 0.0037 | 870 | c.179 others(889): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99927949 | T | TGGAGGTG others(863): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0040 | 1 | 288 | 0.0035 | 870 | c.190 others(889): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99928191 | G | GTGGTGAT others(863): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0243 | 1 | 288 | 0.0035 | 870 | c.190 others(889): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXD3_chr9_137301896_137428162 | 137350578 | C | CTAGATAG others(863): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0012 | 1 | 82 | 0.0122 | 870 | c.149 others(887): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 14/21 | chr9 | TogoVar |