view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATC1L_chr21_46156160_46189459 | 46184457 | C | CACAACCC others(1077): Show |
5_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0196 a0001c0001t0018g0197 |
2 | 249 | 0.0080 | 1084 | c.-10 others(1095): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 1/5 | 1642 | chr21 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744303 | T | TAAAAAAC others(1077): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0168 | 1 | 101 | 0.0099 | 1084 | c.749 others(1099): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744307 | T | TAAAATAT others(1077): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 110 | 0.0091 | 1084 | c.749 others(1099): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1077): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 103 | 0.0097 | 1084 | c.749 others(1099): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1077): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(153): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0016 others(128): Show |
156 | 258 | 0.6047 | 1084 | c.749 others(1099): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1077): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 103 | 0.0097 | 1084 | c.749 others(1099): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TRIM28_chr19_58539064_58555715 | 58539222 | A | ACCTGCTT others(1077): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG01123.hp2 others(13): Show |
a0001a0002 | a0001c0003a0002c0009 | a0001c0003t0001a0001c0003t0010a0002c0009t0001 | a0001c0003t0001g0004 a0001c0003t0010g0004 a0002c0009t0001g0045 |
16 | 170 | 0.0941 | 1084 | c.-55 others(1095): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4841 | chr19 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029029 | C | CCTCGTAA others(1077): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0123 | 1 | 202 | 0.0050 | 1084 | c.225 others(1103): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCATCACC others(1077): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 50 | 0.0200 | 1084 | c.*24 others(1095): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1077): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0061 | 1 | 149 | 0.0067 | 1084 | c.129 others(1101): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1077): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 113 | 0.0088 | 1084 | c.*53 others(1095): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1078): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0108 | 1 | 30 | 0.0333 | 1085 | c.505 others(1104): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1078): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 3 | 0.3333 | 1085 | c.787 others(1100): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1078): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 3 | 0.3333 | 1085 | c.787 others(1100): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1078): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 3 | 0.3333 | 1085 | c.787 others(1100): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1078): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0219 | 1 | 194 | 0.0052 | 1085 | c.300 others(1102): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1078): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0032 | a0001c0032t0020 | a0001c0032t0020g0265 | 1 | 194 | 0.0052 | 1085 | c.300 others(1102): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939818 | A | AAAAGAAA others(1078): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 2 | 170 | 0.0118 | 1085 | c.403 others(1100): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(1078): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 353 | 0.0028 | 1085 | c.51+ others(1100): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924508 | A | AACCCGGC others(1078): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0016 | a0016c0073 | a0016c0073t0007 | a0016c0073t0007g0232 | 1 | 318 | 0.0031 | 1085 | c.489 others(1102): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(1078): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0220 | 1 | 137 | 0.0073 | 1085 | c.724 others(1104): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAT others(1078): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0268 | 1 | 234 | 0.0043 | 1085 | c.215 others(1102): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946629 | T | TAAGTACA others(1078): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 a0001c0001t0004g0335 |
2 | 233 | 0.0086 | 1085 | c.617 others(1102): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(1078): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 130 | 0.0077 | 1085 | c.240 others(1104): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(1078): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 130 | 0.0077 | 1085 | c.240 others(1104): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322940 | T | TATATATG others(1078): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0215 | 1 | 315 | 0.0032 | 1085 | c.-21 others(1096): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2029 | chr21 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0230 | 1 | 147 | 0.0068 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | HG00639.hp1 HG04115.hp2 NA18945.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0149 a0001c0001t0002g0078 a0001c0002t0001g0028 others(1): Show |
4 | 150 | 0.0267 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01261.hp1 others(26): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0037 others(26): Show |
29 | 175 | 0.1657 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18970.hp2 NA18999.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0060 a0001c0001t0004g0023 a0001c0001t0004g0063 others(1): Show |
4 | 150 | 0.0267 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 114 | 0.0088 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1078): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 114 | 0.0088 | 1085 | c.193 others(1104): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
MPG_chr16_73225_90846 | 81769 | C | CCTCCGGG others(1078): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 189 | 0.0053 | 1085 | c.301 others(1102): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 81769 | C | CCTCCGGG others(1078): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0048 | 1 | 153 | 0.0065 | 1085 | c.*49 others(1096): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3616 | chr16 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1078): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 110 | 0.0091 | 1085 | c.-31 others(1102): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1078): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 195 | 0.0051 | 1085 | c.347 others(1100): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGGATGA others(1078): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0046 | 1 | 95 | 0.0105 | 1085 | c.206 others(1104): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1078): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0137 a0001c0001t0006g0196 |
2 | 104 | 0.0192 | 1085 | c.749 others(1100): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1078): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0238 |
2 | 104 | 0.0192 | 1085 | c.749 others(1100): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1078): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0171 | 1 | 149 | 0.0067 | 1085 | c.129 others(1102): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289035 | C | CCGTGTCT others(1079): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 263 | 0.0076 | 1086 | c.*45 others(1097): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3355 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289471 | C | CCGTGTCT others(1079): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 278 | 0.0036 | 1086 | c.*40 others(1097): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2919 | chr1 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1079): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01517.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0199 a0001c0001t0001g0203 a0002c0002t0001g0004 |
3 | 5 | 0.6000 | 1086 | c.787 others(1101): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1079): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 224 | 0.0045 | 1086 | c.927 others(1103): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1079): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 52 | 0.0192 | 1086 | c.927 others(1103): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGEF10L_chr1_17534698_17702869 | 17689485 | T | TCCCTCCC others(1079): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0141 | 1 | 134 | 0.0075 | 1086 | c.318 others(1105): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | chr1 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(1079): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0099 | a0001c0001t0001g0095 a0001c0001t0099g0043 |
2 | 10 | 0.2000 | 1086 | c.565 others(1103): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(1079): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0009 | 1 | 218 | 0.0046 | 1086 | c.666 others(1101): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(1079): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0015 | 1 | 39 | 0.0256 | 1086 | c.449 others(1103): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1079): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0031 | a0003c0031t0007 | a0003c0031t0007g0027 | 1 | 2 | 0.5000 | 1086 | c.273 others(1101): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar |