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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYOM2_chr8_2040046_2150456 | 2100121 | C | CTTCTTTC others(33): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18989.hp2 NA19063.hp2 |
a0005a0028 | a0005c0146a0028c0052 | a0005c0146t0004a0028c0052t0002 | a0005c0146t0004g0105a0028c0052t0002g0063a0028c0052t0002g0064 | 3 | 403 | 0.0074 | 40 | c.244 others(57): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2120675 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0374 | 1 | 403 | 0.0025 | 40 | c.345 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | chr8 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2120685 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01070.hp1 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0003a0001c0009others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0009t0001others(3): Show | a0001c0002t0001g0216a0001c0003t0001g0020a0001c0003t0001g0372others(6): Show | 9 | 403 | 0.0223 | 40 | c.345 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2127564 | C | CCAGGCAG others(33): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03688.hp1 NA19058.hp1 |
a0002a0004a0005 | a0002c0045a0004c0051a0005c0109 | a0002c0045t0002a0004c0051t0001a0005c0109t0002 | a0002c0045t0002g0250a0004c0051t0001g0360a0005c0109t0002g0115 | 3 | 403 | 0.0074 | 40 | c.369 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2127564 | C | CCAGGCAG others(33): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0034 | a0034c0127 | a0034c0127t0001 | a0034c0127t0001g0398 | 1 | 403 | 0.0025 | 40 | c.369 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2127716 | A | ACGCAGCC others(33): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG03579.hp2 |
a0001a0034 | a0001c0038a0034c0094 | a0001c0038t0001a0034c0094t0001 | a0001c0038t0001g0076a0001c0038t0001g0077a0034c0094t0001g0029 | 3 | 403 | 0.0074 | 40 | c.369 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2127756 | G | GCGCAGCC others(33): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01928.hp2 HG02165.hp1 others(2): Show |
a0022a0065a0074others(1): Show | a0022c0043a0065c0161a0074c0126others(1): Show | a0022c0043t0001a0065c0161t0001a0074c0126t0001others(1): Show | a0022c0043t0001g0239a0022c0043t0001g0382a0065c0161t0001g0134others(2): Show | 5 | 403 | 0.0124 | 40 | c.369 others(59): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69877001 | G | GTCTTTCT others(33): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02559.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0009 | a0001c0001t0003a0001c0003t0001a0006c0009t0003 | a0001c0001t0003g0264a0001c0003t0001g0241a0001c0003t0001g0262others(1): Show | 4 | 322 | 0.0124 | 40 | c.138 others(57): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69891635 | C | CTCTTTCT others(33): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0106 | 1 | 322 | 0.0031 | 40 | c.903 others(55): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRFL_chr12_69820227_69964097 | 69891637 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18906.hp2 NA19056.hp2 |
a0003a0008 | a0003c0004a0008c0013 | a0003c0004t0001a0008c0013t0004 | a0003c0004t0001g0034a0003c0004t0001g0041a0008c0013t0004g0175 | 3 | 322 | 0.0093 | 40 | c.903 others(55): Show |
MYRFL | ENSG00000166268.11 | transcript | ENST00000552032.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40192315 | T | TATATGAC others(33): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 170 | 0.0059 | 40 | c.166 others(59): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYSM1_chr1_58649743_58705062 | 58651407 | A | AGTGTGTG others(33): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 NA19066.hp1 NA19075.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0150a0001c0001t0001g0188a0001c0001t0001g0210others(2): Show | 5 | 410 | 0.0122 | 40 | c.*85 others(51): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 3335 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18999.hp2 NA19075.hp2 |
a0002 | a0002c0005 | a0002c0005t0015a0002c0005t0030 | a0002c0005t0015g0239a0002c0005t0030g0238 | 2 | 410 | 0.0049 | 40 | c.68+ others(55): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0028 | a0002c0002t0028g0113 | 1 | 410 | 0.0024 | 40 | c.68+ others(55): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYSM1_chr1_58649743_58705062 | 58698102 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18612.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0061a0002c0002t0005g0060 | 2 | 410 | 0.0049 | 40 | c.68+ others(55): Show |
MYSM1 | ENSG00000162601.12 | transcript | ENST00000472487.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1934307 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 104 | 0.0096 | 40 | c.505 others(57): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 9/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1934307 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 104 | 0.0096 | 40 | c.505 others(57): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 9/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2262931 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0043 | 1 | 104 | 0.0096 | 40 | c.-42 others(61): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2262939 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 104 | 0.0096 | 40 | c.-42 others(61): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
MYZAP_chr15_57586904_57690364 | 57593188 | G | GCATGCGC others(33): Show |
intron_variant | MODIFIER | HG02027.hp1 NA19079.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0163a0002c0004t0001g0164 | 2 | 352 | 0.0057 | 40 | c.75+ others(55): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MYZAP_chr15_57586904_57690364 | 57593188 | G | GCATGCGC others(33): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01109.hp1 HG01256.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0193a0001c0001t0001g0194others(3): Show | 6 | 352 | 0.0171 | 40 | c.75+ others(55): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MYZAP_chr15_57586904_57690364 | 57593188 | G | GCATGCGC others(33): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0249a0001c0001t0001g0250 | 4 | 352 | 0.0114 | 40 | c.75+ others(55): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MYZAP_chr15_57586904_57690364 | 57593188 | G | GCATGCGC others(33): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18957.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259a0001c0001t0001g0260a0001c0001t0001g0261 | 3 | 352 | 0.0085 | 40 | c.75+ others(55): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MYZAP_chr15_57586904_57690364 | 57593188 | G | GCATGCGC others(33): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02896.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0286a0001c0001t0001g0287a0001c0001t0001g0292others(1): Show | 4 | 352 | 0.0114 | 40 | c.75+ others(55): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MYZAP_chr15_57586904_57690364 | 57593188 | G | GCATGCGC others(33): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03490.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0008a0002c0004t0002 | a0001c0001t0008g0330a0002c0004t0002g0331 | 2 | 352 | 0.0057 | 40 | c.75+ others(55): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MYZAP_chr15_57586904_57690364 | 57689163 | A | ATATACAC others(33): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0218a0001c0001t0001g0230a0001c0001t0002g0154others(2): Show | 5 | 352 | 0.0142 | 40 | c.*46 others(51): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 3800 | chr15 | TogoVar | ||||||
NAA10_chrX_153924225_153940037 | 153925252 | A | AATGATGT others(33): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 292 | 0.0034 | 40 | c.*46 others(51): Show |
NAA10 | ENSG00000102030.16 | transcript | ENST00000464845.6 | protein_coding | 3972 | chrX | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139314998 | C | CAGTTCAG others(33): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0095a0001c0001t0005g0097 | 2 | 334 | 0.0060 | 40 | c.54+ others(57): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NAA15_chr4_139296505_139396384 | 139314998 | C | CAGTTTAG others(33): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0007a0002c0007t0007 | a0001c0001t0007g0168a0001c0001t0007g0169a0001c0001t0007g0170others(1): Show | 4 | 334 | 0.0120 | 40 | c.54+ others(57): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NAA15_chr4_139296505_139396384 | 139315006 | T | TTTAGTTT others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0285a0001c0001t0002g0284 | 2 | 334 | 0.0060 | 40 | c.54+ others(57): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NAA15_chr4_139296505_139396384 | 139315051 | G | GTTAGGTT others(33): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 334 | 0.0030 | 40 | c.54+ others(57): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NAALAD2_chr11_90129663_90197894 | 90166104 | C | CTGGCCTA others(33): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0241 | 1 | 364 | 0.0028 | 40 | c.127 others(59): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAALADL2_chr3_174854334_175815548 | 175181717 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02615.hp1 |
a0002 | a0002c0004a0002c0005 | a0002c0004t0033a0002c0005t0008 | a0002c0004t0033g0022a0002c0005t0008g0007 | 2 | 64 | 0.0313 | 40 | c.546 others(59): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NABP1_chr2_191673136_191691943 | 191690439 | A | ATATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 2 | 394 | 0.0051 | 40 | c.*46 others(51): Show |
NABP1 | ENSG00000173559.15 | transcript | ENST00000425611.9 | protein_coding | 3497 | chr2 | TogoVar | ||||||
NALCN_chr13_101048776_101421508 | 101300363 | T | TTTCCTTC others(33): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0104 | 1 | 176 | 0.0057 | 40 | c.800 others(57): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 7/43 | chr13 | TogoVar | ||||||
NALCN_chr13_101048776_101421508 | 101345737 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0010a0001c0003t0001 | a0001c0001t0005g0101a0001c0001t0010g0120a0001c0003t0001g0044 | 3 | 176 | 0.0171 | 40 | c.645 others(55): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 6/43 | chr13 | TogoVar | ||||||
NALCN_chr13_101048776_101421508 | 101346087 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 176 | 0.0057 | 40 | c.645 others(55): Show |
NALCN | ENSG00000102452.18 | transcript | ENST00000251127.11 | protein_coding | 6/43 | chr13 | TogoVar | ||||||
NALF1_chr13_107158510_107872496 | 107638201 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG02486.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0027a0001c0001t0043others(5): Show | a0001c0001t0001g0061a0001c0001t0027g0004a0001c0001t0043g0054others(5): Show | 8 | 128 | 0.0625 | 40 | c.915 others(61): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
NALF1_chr13_107158510_107872496 | 107638201 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0064 | 1 | 128 | 0.0078 | 40 | c.915 others(61): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
NAPEPLD_chr7_103094776_103154099 | 103099575 | C | CGTGTGTG others(33): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0065a0001c0001t0001g0067a0001c0001t0001g0073others(28): Show | 34 | 381 | 0.0892 | 40 | c.*38 others(51): Show |
NAPEPLD | ENSG00000161048.12 | transcript | ENST00000465647.6 | protein_coding | 200 | chr7 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201642525 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01361.hp1 HG01496.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0077a0002c0002t0012others(1): Show | a0001c0001t0007g0032a0001c0001t0077g0202a0002c0002t0012g0037others(1): Show | 4 | 210 | 0.0191 | 40 | c.827 others(57): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19897883 | G | GATATATA others(33): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0071 | a0001c0071t0007 | a0001c0071t0007g0011 | 1 | 166 | 0.0060 | 40 | c.931 others(57): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19897886 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01168.hp2 HG02602.hp2 others(1): Show |
a0002a0006 | a0002c0002a0002c0013a0002c0118others(1): Show | a0002c0002t0004a0002c0013t0001a0002c0118t0001others(1): Show | a0002c0002t0004g0029a0002c0013t0001g0144a0002c0118t0001g0036others(1): Show | 4 | 166 | 0.0241 | 40 | c.931 others(57): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19897886 | T | TTTTATAT others(33): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0047 | a0001c0047t0012 | a0001c0047t0012g0067 | 1 | 166 | 0.0060 | 40 | c.931 others(57): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 20106155 | G | GTGTATAT others(33): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0008 | a0008c0128 | a0008c0128t0003 | a0008c0128t0003g0127 | 1 | 166 | 0.0060 | 40 | c.684 others(57): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35150793 | T | TTAGAGTA others(33): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0012 | 1 | 122 | 0.0082 | 40 | c.244 others(59): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 18/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBEA_chr13_34937270_35677736 | 35308568 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 122 | 0.0082 | 40 | c.583 others(57): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 35/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
NBPF11_chr1_148097151_148157281 | 148142042 | A | AAGGCAGG others(33): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0000 | a0000c0039 | a0000c0039t0017 | a0000c0039t0017g0285 | 1 | 388 | 0.0026 | 40 | c.-27 others(59): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 2/23 | chr1 | TogoVar | ||||||
NBPF11_chr1_148097151_148157281 | 148142046 | C | CAGGGAGG others(33): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0000 | a0000c0040 | a0000c0040t0017 | a0000c0040t0017g0286 | 1 | 388 | 0.0026 | 40 | c.-27 others(59): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 2/23 | chr1 | TogoVar | ||||||
NCAM1_chr11_112956420_113283436 | 113185079 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0135a0001c0001t0014g0200 | 2 | 242 | 0.0083 | 40 | c.53- others(57): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |