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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPS2_chr12_75270979_75335324 | 75311699 | GGAAAAAA others(19): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02818.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0014 | a0001c0003t0002g0018 a0001c0003t0014g0059 |
3 | 244 | 0.0123 | -26 | c.545 others(43): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 7/16 | chr12 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116890545 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01255.hp2 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0012 | a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0238 others(3): Show |
6 | 351 | 0.0171 | -26 | c.103 others(43): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116890571 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 339 | 0.0029 | -26 | c.103 others(43): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116914432 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | HG06807.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0326 a0001c0002t0016g0327 |
2 | 67 | 0.0299 | -26 | c.658 others(43): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19471865 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0254 | 1 | 258 | 0.0039 | -26 | c.3+1 others(41): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2933696 | CTTTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01071.hp2 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0072 a0001c0003t0001g0088 a0001c0003t0001g0090 others(1): Show |
4 | 320 | 0.0125 | -26 | c.151 others(43): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | |||||||
CARD19_chr9_93091217_93118283 | 93111869 | TTGTTTCC others(19): Show |
T | frameshift_variant others(3): Show |
HIGH | NA18972.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0054 | 1 | 356 | 0.0028 | -26 | c.305 others(35): Show |
p.Gln others(5): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 4/6 | 305/552 | 102/183 | chr9 | TogoVar | ||||
CARD9_chr9_136358956_136378669 | 136372952 | TGGCTGCA others(19): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0052 | 1 | 404 | 0.0025 | -26 | c.-17 others(41): Show |
CARD9 | ENSG00000187796.16 | transcript | ENST00000371732.10 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
CARD9_chr9_136358956_136378669 | 136373567 | ACACCAGG others(19): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0130 | 1 | 404 | 0.0025 | -26 | c.-78 others(33): Show |
CARD9 | ENSG00000187796.16 | transcript | ENST00000371732.10 | protein_coding | 1/13 | 1490 | chr9 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202980616 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0282 | 1 | 14 | 0.0714 | -26 | c.155 others(43): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202986868 | GTATATAT others(19): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03130.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 a0001c0001t0002g0078 |
2 | 222 | 0.0090 | -26 | c.*32 others(37): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3259 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARMIL1_chr6_25274374_25625530 | 25450958 | TCTCCTCT others(19): Show |
T | intron_variant | MODIFIER | HG01243.hp2 NA19240.hp1 |
a0001a0008 | a0001c0004a0008c0035 | a0001c0004t0009a0008c0035t0004 | a0001c0004t0009g0184 a0008c0035t0004g0028 |
2 | 184 | 0.0109 | -26 | c.614 others(41): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110677685 | TCAGACAG others(19): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01358.hp2 others(13): Show |
a0001a0002 | a0001c0003a0001c0009a0002c0004 | a0001c0003t0001a0001c0009t0002a0002c0004t0001others(1): Show | a0001c0003t0001g0020 a0001c0003t0001g0231 a0001c0003t0001g0244 others(12): Show |
16 | 370 | 0.0432 | -26 | c.656 others(41): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41510388 | CATATATA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 53 | 0.0189 | -26 | c.*10 others(39): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 4545 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41510409 | ATATATAT others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(13): Show |
16 | 161 | 0.0994 | -26 | c.*99 others(38): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 4524 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41829696 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0161 a0001c0001t0015g0144 |
2 | 29 | 0.0690 | -26 | c.172 others(45): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109706131 | TTATATAT others(19): Show |
T | upstream_gene_variant | MODIFIER | NA18983.hp1 NA18990.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0183 a0001c0001t0003g0015 a0001c0001t0003g0050 |
3 | 163 | 0.0184 | -26 | c.-27 others(37): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2687 | chr4 | TogoVar | |||||||
CASP9_chr1_15486401_15529215 | 15497310 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02165.hp1 NA19080.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 a0002c0001t0001g0091 a0002c0001t0001g0100 |
3 | 348 | 0.0086 | -26 | c.869 others(43): Show |
CASP9 | ENSG00000132906.18 | transcript | ENST00000333868.10 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
CASQ1_chr1_160185575_160206886 | 160193953 | CACATACA others(19): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 438 | 0.0023 | -26 | c.465 others(41): Show |
CASQ1 | ENSG00000143318.13 | transcript | ENST00000368078.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5743667 | CCTCTCTC others(19): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02257.hp2 |
a0001a0018 | a0001c0001a0018c0025 | a0001c0001t0002a0018c0025t0001 | a0001c0001t0002g0093 a0018c0025t0001g0086 |
2 | 334 | 0.0060 | -26 | c.574 others(41): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5751197 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 | 1 | 12 | 0.0833 | -26 | c.988 others(41): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244557532 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG02145.hp1 HG03834.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0002a0006c0011t0001 | a0001c0001t0001g0033 a0001c0001t0001g0129 a0001c0001t0002g0047 others(1): Show |
4 | 13 | 0.3077 | -26 | c.103 others(45): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244582910 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03491.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0002g0010 others(2): Show |
5 | 7 | 0.7143 | -26 | c.201 others(43): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116533348 | TAAATAAA others(19): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00642.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0094 others(48): Show |
54 | 131 | 0.4122 | -26 | c.195 others(43): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555520 | GAGAGAGA others(19): Show |
G | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153 | 1 | 333 | 0.0030 | -26 | c.196 others(43): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42401681 | GAAAGAAA others(19): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0074 |
3 | 336 | 0.0089 | -26 | c.*29 others(37): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 767 | chr17 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33643753 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01361.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0101 others(26): Show |
29 | 61 | 0.4754 | -26 | c.148 others(43): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88882563 | GGCATGGC others(19): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(82): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 others(82): Show |
85 | 282 | 0.3014 | -26 | c.120 others(42): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 8/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88915584 | GGGGGAGC others(19): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0021 | a0001c0021t0011 | a0001c0021t0011g0034 | 1 | 282 | 0.0035 | -26 | c.152 others(45): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44800827 | CCCTCCTC others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0030 | 1 | 342 | 0.0029 | -26 | c.*28 others(35): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 176 | chr19 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119212391 | TGAGGTGG others(19): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0226 | 1 | 362 | 0.0028 | -26 | c.195 others(43): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36137502 | GAAAGGAA others(19): Show |
G | intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 422 | 0.0024 | -26 | c.290 others(41): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15470683 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0060 | 1 | 317 | 0.0032 | -26 | c.-19 others(41): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15470685 | CTCTCTAT others(19): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0095 | 1 | 303 | 0.0033 | -26 | c.-19 others(41): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96029260 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0008 | 1 | 310 | 0.0032 | -26 | c.412 others(45): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59658350 | AAAAAATA others(19): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG02622.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0036 | a0001c0001t0002g0016 a0001c0001t0003g0099 a0001c0001t0036g0155 |
3 | 225 | 0.0133 | -26 | c.212 others(45): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658352 | AAAATATA others(19): Show |
A | intron_variant | MODIFIER | NA20129.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0154 a0001c0001t0009g0153 |
2 | 226 | 0.0088 | -26 | c.212 others(45): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658354 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 159 | 0.0063 | -26 | c.212 others(45): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC102A_chr16_57507181_57541571 | 57531256 | GCTCCTCC others(19): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG03688.hp2 HG03831.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0231 |
3 | 414 | 0.0072 | -26 | c.-14 others(45): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
CCDC121_chr2_27620638_27634012 | 27632443 | TGCTGCTG others(19): Show |
T | upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -26 | c.-36 others(37): Show |
CCDC121 | ENSG00000176714.10 | transcript | ENST00000324364.4 | protein_coding | 3432 | chr2 | TogoVar | |||||||
CCDC125_chr5_69275175_69337801 | 69286188 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01952.hp2 HG02683.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0187 a0001c0001t0004g0163 a0001c0001t0004g0164 others(2): Show |
5 | 62 | 0.0806 | -26 | c.110 others(43): Show |
CCDC125 | ENSG00000183323.13 | transcript | ENST00000396496.7 | protein_coding | 10/11 | chr5 | TogoVar | |||||||
CCDC126_chr7_23592382_23649708 | 23600374 | ACCCCCCC others(19): Show |
A | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 142 | 0.0070 | -26 | c.-14 others(45): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46941713 | CAGGCCAG others(19): Show |
C | intron_variant | MODIFIER | HG01891.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 a0001c0002t0001g0025 |
2 | 352 | 0.0057 | -26 | c.97- others(39): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC138_chr2_108781771_108881578 | 108853966 | AAATATAT others(19): Show |
A | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 218 | 0.0046 | -26 | c.151 others(45): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC146_chr7_77117615_77300204 | 77250973 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG03471.hp2 |
a0001a0003 | a0001c0029a0003c0011 | a0001c0029t0002a0003c0011t0001 | a0001c0029t0002g0213 a0003c0011t0001g0138 |
2 | 45 | 0.0444 | -26 | c.450 others(43): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC146_chr7_77117615_77300204 | 77259939 | AGTGTGTG others(19): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG02698.hp1 others(11): Show |
a0001a0002 | a0001c0005a0001c0019a0002c0002 | a0001c0005t0001a0001c0005t0002a0001c0019t0001others(1): Show | a0001c0005t0001g0143 a0001c0005t0001g0144 a0001c0005t0001g0146 others(11): Show |
14 | 18 | 0.7778 | -26 | c.759 others(39): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC146_chr7_77117615_77300204 | 77271513 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02572.hp1 others(11): Show |
a0001a0003a0004 | a0001c0007a0003c0003a0003c0010others(3): Show | a0001c0007t0002a0003c0003t0002a0003c0010t0001others(3): Show | a0001c0007t0002g0078 a0003c0003t0002g0002 a0003c0003t0002g0004 others(11): Show |
14 | 19 | 0.7368 | -26 | c.117 others(45): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC149_chr4_24798514_24918042 | 24817531 | GGGTCTTC others(19): Show |
G | intron_variant | MODIFIER | HG04204.hp1 NA18950.hp1 NA18959.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0001t0031a0001c0003t0002 | a0001c0001t0010g0004 a0001c0001t0010g0151 a0001c0001t0010g0190 others(2): Show |
6 | 352 | 0.0170 | -26 | c.117 others(45): Show |
CCDC149 | ENSG00000181982.20 | transcript | ENST00000635206.3 | protein_coding | 12/12 | chr4 | TogoVar | |||||||
CCDC14_chr3_123908422_123966229 | 123924962 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0165 | 1 | 366 | 0.0027 | -26 | c.177 others(45): Show |
CCDC14 | ENSG00000175455.16 | transcript | ENST00000409697.8 | protein_coding | 12/12 | chr3 | TogoVar | |||||||
CCDC158_chr4_76308039_76426141 | 76319463 | AAAATATA others(19): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG04228.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0267 a0001c0002t0001g0268 |
2 | 318 | 0.0063 | -26 | c.327 others(45): Show |
CCDC158 | ENSG00000163749.18 | transcript | ENST00000682701.1 | protein_coding | 24/24 | chr4 | TogoVar |