| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| VAV3_chr1_107566161_107970180 | 107830681 | A | AATAAATC others(2148): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0050a0001c0001t0006g0014 | 2 | 210 | 0.0095 | 2155 | c.321 others(2174): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 2/26 | chr1 | TogoVar | ||||||
| CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2149): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031 | 1 | 364 | 0.0028 | 2156 | c.445 others(2171): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CNR2_chr1_23865515_23918362 | 23884345 | T | TTAGAGGC others(2149): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0061 | a0002c0002t0061g0059 | 1 | 268 | 0.0037 | 2156 | c.-45 others(2173): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2149): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0034 | 1 | 40 | 0.0250 | 2156 | c.371 others(2175): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2149): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 40 | 0.0250 | 2156 | c.371 others(2175): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(2149): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0079 | 1 | 158 | 0.0063 | 2156 | c.*11 others(2177): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(2149): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 456 | 0.0022 | 2156 | c.*31 others(2167): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2149): Show |
intron_variant | MODIFIER | HG01168.hp1 NA18969.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0093a0001c0001t0004g0019a0001c0001t0004g0041 | 3 | 362 | 0.0083 | 2156 | c.-56 others(2175): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2149): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0105 | 1 | 362 | 0.0028 | 2156 | c.-56 others(2175): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2149): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 362 | 0.0028 | 2156 | c.-56 others(2175): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2149): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 362 | 0.0028 | 2156 | c.-56 others(2175): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PRAMEF15_chr1_13310581_13327598 | 13315764 | T | TTTTTTTT others(2149): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03516.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022a0001c0001t0003g0037 | 3 | 302 | 0.0099 | 2156 | c.-17 others(2171): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 273022 | A | AAGAGACC others(2149): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 133 | 0.0075 | 2156 | c.438 others(2173): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1223101 | G | GATCGCTG others(2149): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 190 | 0.0053 | 2156 | c.719 others(2175): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ULK1_chr12_131889622_131928150 | 131917167 | C | CGGGTGGG others(2149): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0055 | 1 | 344 | 0.0029 | 2156 | c.218 others(2173): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(2150): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 344 | 0.0029 | 2157 | c.127 others(2174): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2150): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0002 | 1 | 40 | 0.0250 | 2157 | c.371 others(2176): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2150): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0044 | a0002c0002t0044g0021 | 1 | 276 | 0.0036 | 2157 | c.*52 others(2168): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
| DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(2150): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0054 | 1 | 230 | 0.0044 | 2157 | c.724 others(2176): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 642849 | G | GAGGGACA others(2150): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201a0001c0002t0001g0241a0001c0002t0001g0267 | 3 | 345 | 0.0087 | 2157 | c.*17 others(2168): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1383 | chr11 | TogoVar | ||||||
| DRD4_chr11_632269_645706 | 642849 | G | GAGGGACA others(2150): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG03471.hp2 NA18522.hp2 |
a0002a0005a0027 | a0002c0002a0005c0005a0027c0039 | a0002c0002t0001a0005c0005t0001a0027c0039t0001 | a0002c0002t0001g0002a0005c0005t0001g0026a0027c0039t0001g0026 | 3 | 421 | 0.0071 | 2157 | c.*22 others(2168): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2144 | chr11 | TogoVar | ||||||
| KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2150): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 238 | 0.0042 | 2157 | c.183 others(2174): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
| KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2150): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20300.hp1 |
a0003 | a0003c0007 | a0003c0007t0020a0003c0007t0105 | a0003c0007t0020g0160a0003c0007t0105g0166 | 2 | 238 | 0.0084 | 2157 | c.183 others(2174): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0155 | 1 | 362 | 0.0028 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0170 | 1 | 362 | 0.0028 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01361.hp2 HG01515.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0036a0001c0001t0001g0143others(11): Show | 14 | 362 | 0.0387 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01074.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0064a0001c0001t0001g0070a0001c0001t0001g0071others(1): Show | 4 | 362 | 0.0111 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18522.hp1 NA19062.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0114a0001c0001t0001g0118a0001c0001t0004g0135others(1): Show | 4 | 362 | 0.0111 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG01123.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0078 | 2 | 362 | 0.0055 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2150): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0094 | 2 | 362 | 0.0055 | 2157 | c.-56 others(2176): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2150): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 NA18612.hp2 NA18999.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 4 | 432 | 0.0093 | 2157 | c.-20 others(2168): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2150): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2157 | c.-20 others(2168): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2150): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG03492.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 4 | 432 | 0.0093 | 2157 | c.-20 others(2168): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2150): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2157 | c.-20 others(2168): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2150): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2157 | c.-20 others(2168): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
| TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2150): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0233a0001c0001t0026g0232 | 2 | 272 | 0.0074 | 2157 | c.389 others(2176): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| C2CD4C_chr19_400445_414147 | 411129 | C | CCGGATCC others(2151): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0025 | 1 | 322 | 0.0031 | 2158 | c.-21 others(2169): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1983 | chr19 | TogoVar | ||||||
| CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2151): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02970.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002a0001c0002t0009 | a0001c0001t0005g0173a0001c0002t0002g0013a0001c0002t0009g0015 | 3 | 175 | 0.0171 | 2158 | c.164 others(2177): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2151): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 449 | 0.0022 | 2158 | c.-35 others(2169): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | ||||||
| NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2151): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 449 | 0.0045 | 2158 | c.-35 others(2169): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | ||||||
| NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2151): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 3 | 449 | 0.0067 | 2158 | c.-35 others(2169): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | ||||||
| NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2151): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005 | 2 | 449 | 0.0045 | 2158 | c.-35 others(2169): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | ||||||
| NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2151): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 449 | 0.0022 | 2158 | c.-35 others(2169): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | ||||||
| NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2151): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 454 | 0.0022 | 2158 | c.100 others(2173): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2151): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18953.hp2 NA18957.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0002c0002t0001a0005c0004t0001 | a0001c0001t0001g0164a0001c0001t0001g0306a0002c0002t0001g0163others(1): Show | 4 | 454 | 0.0088 | 2158 | c.100 others(2173): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2151): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0247a0001c0001t0001g0248 | 3 | 454 | 0.0066 | 2158 | c.100 others(2173): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2151): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 | 1 | 454 | 0.0022 | 2158 | c.100 others(2173): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2151): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 454 | 0.0022 | 2158 | c.100 others(2173): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2151): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0154 | 1 | 362 | 0.0028 | 2158 | c.-56 others(2177): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2151): Show |
intron_variant | MODIFIER | HG01981.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0139a0001c0001t0023g0115 | 2 | 362 | 0.0055 | 2158 | c.-56 others(2177): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |