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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHSY3_chr5_129899465_130191634 | 129934007 | ACAATGCC others(4): Show |
A | intron_variant | MODIFIER | HG02809.hp2 NA20129.hp1 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0003c0004t0003 | a0002c0003t0001g0230a0003c0004t0003g0227 | 2 | 276 | 0.0073 | -11 | c.108 others(32): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020450 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 276 | 0.0036 | -11 | c.108 others(34): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130020453 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0003c0004t0004 | a0002c0003t0001g0276a0003c0004t0004g0143 | 2 | 276 | 0.0073 | -11 | c.108 others(34): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130023892 | TAAACATA others(4): Show |
T | intron_variant | MODIFIER | NA18986.hp2 NA19002.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0007a0001c0008t0001g0006 | 2 | 276 | 0.0073 | -11 | c.108 others(34): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130138293 | CTCAGGCG others(4): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0269 | 1 | 276 | 0.0036 | -11 | c.108 others(32): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CHTF8_chr16_69113010_69137588 | 69132278 | GCGCCGCC others(4): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 364 | 0.0028 | -11 | c.-36 others(26): Show |
CHTF8 | ENSG00000168802.14 | transcript | ENST00000448552.7 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78117246 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 390 | 0.0026 | -11 | c.87- others(26): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601226 | AAAAAAAT others(4): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01934.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0265a0001c0001t0001g0293a0001c0001t0001g0299others(3): Show | 6 | 344 | 0.0174 | -11 | c.187 others(28): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601228 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0109 | 1 | 344 | 0.0029 | -11 | c.187 others(28): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601230 | AAATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01261.hp1 HG02135.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0134a0001c0001t0001g0142a0001c0001t0001g0144others(9): Show | 12 | 344 | 0.0349 | -11 | c.187 others(28): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26601232 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02083.hp2 HG02602.hp1 HG03831.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0274a0002c0002t0001g0092others(4): Show | 7 | 344 | 0.0204 | -11 | c.187 others(28): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIC_chr19_42264252_42300796 | 42269809 | AGGTAGTG others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02258.hp2 others(1): Show |
a0002 | a0002c0005a0002c0016 | a0002c0005t0001a0002c0005t0002a0002c0016t0001 | a0002c0005t0001g0036a0002c0005t0001g0037a0002c0005t0002g0010others(1): Show | 4 | 196 | 0.0204 | -11 | c.-11 others(26): Show |
CIC | ENSG00000079432.9 | transcript | ENST00000681038.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CIDEA_chr18_12249361_12282595 | 12251990 | TGACTCGC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(210): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0014others(188): Show | 213 | 448 | 0.4755 | -11 | c.-23 others(22): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 2370 | chr18 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10893804 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0005 | a0001c0005t0093 | a0001c0005t0093g0365 | 1 | 392 | 0.0026 | -11 | c.53- others(26): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CINP_chr14_102343282_102367890 | 102363863 | TCAGTAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 420 | 0.0024 | -11 | c.-10 others(22): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 974 | chr14 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108594412 | CCCCTCCC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01975.hp1 HG02257.hp2 HG02818.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0012a0004c0004t0005g0013a0004c0004t0005g0014others(4): Show | 7 | 372 | 0.0188 | -11 | c.-50 others(22): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 4975 | chr3 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174396569 | GGTGGATC others(4): Show |
G | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 348 | 0.0029 | -11 | c.-95 others(20): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 858 | chr2 | TogoVar | ||||||
CIROP_chr14_23094062_23109989 | 23096508 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18989.hp1 NA19074.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0015 | 2 | 450 | 0.0044 | -11 | c.*27 others(22): Show |
CIROP | ENSG00000283654.3 | transcript | ENST00000637218.2 | protein_coding | 2553 | chr14 | TogoVar | ||||||
CISH_chr3_50601489_50616774 | 50602060 | ACACACAC others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02698.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006 | 2 | 360 | 0.0056 | -11 | c.*55 others(22): Show |
CISH | ENSG00000114737.16 | transcript | ENST00000348721.4 | protein_coding | 4428 | chr3 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119705771 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0030 | 1 | 236 | 0.0042 | -11 | c.521 others(30): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 40/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119716378 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG02257.hp1 others(23): Show |
a0001a0002a0004 | a0001c0005a0001c0007a0001c0028others(2): Show | a0001c0005t0008a0001c0007t0005a0001c0028t0003others(5): Show | a0001c0005t0008g0021a0001c0005t0008g0022a0001c0005t0008g0085others(23): Show | 26 | 236 | 0.1102 | -11 | c.416 others(30): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119850452 | AGGGAAGG others(4): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 236 | 0.0042 | -11 | c.415 others(26): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 4/47 | chr12 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46848226 | TTTTTTTT others(4): Show |
T | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0166a0001c0001t0001g0221 | 3 | 294 | 0.0102 | -11 | c.-20 others(22): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 1947 | chr11 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121334391 | AGAGCAGT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0213 | 1 | 214 | 0.0047 | -11 | c.*64 others(22): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 3384 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121470293 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp1 others(83): Show |
a0001a0002a0004 | a0001c0002a0001c0006a0002c0003others(1): Show | a0001c0002t0005a0001c0002t0006a0001c0002t0008others(36): Show | a0001c0002t0005g0145a0001c0002t0005g0146a0001c0002t0005g0147others(83): Show | 86 | 214 | 0.4019 | -11 | c.713 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478742 | CCACACAC others(4): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0006 | 1 | 214 | 0.0047 | -11 | c.713 others(28): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478793 | CCACACAC others(4): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01993.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0053 | a0001c0001t0001g0079a0001c0001t0012g0076a0001c0001t0012g0077others(2): Show | 5 | 214 | 0.0234 | -11 | c.713 others(28): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478871 | CCACACCA others(4): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 214 | 0.0047 | -11 | c.713 others(28): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478905 | CCACACAC others(4): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG03209.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0071 | a0001c0001t0027g0098a0001c0001t0027g0099a0001c0001t0071g0100 | 3 | 214 | 0.0140 | -11 | c.713 others(28): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478963 | CCACACAC others(4): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(53): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0080a0001c0002t0005a0001c0002t0009others(27): Show | a0001c0001t0080g0049a0001c0002t0005g0145a0001c0002t0005g0147others(53): Show | 56 | 214 | 0.2617 | -11 | c.713 others(28): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121478983 | CCACACAC others(4): Show |
C | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0042 | 1 | 214 | 0.0047 | -11 | c.713 others(28): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121536378 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(28): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0027others(7): Show | a0001c0001t0002g0101a0001c0001t0002g0105a0001c0001t0002g0106others(28): Show | 31 | 214 | 0.1449 | -11 | c.196 others(28): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP1_chr2_121332776_121654462 | 121588173 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0043 | 1 | 214 | 0.0047 | -11 | c.195 others(30): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33590997 | ACAGTGGG others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02647.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016a0001c0001t0004g0135a0001c0001t0004g0165others(8): Show | 11 | 278 | 0.0396 | -11 | c.206 others(30): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 21/38 | chr3 | TogoVar | ||||||
CLASRP_chr19_45034045_45075956 | 45068311 | TCCCCCCC others(4): Show |
T | intron_variant | MODIFIER | HG02040.hp1 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200a0001c0001t0001g0245 | 2 | 364 | 0.0055 | -11 | c.170 others(26): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CLCA4_chr1_86542078_86585754 | 86570751 | CATACTGT others(4): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 334 | 0.0030 | -11 | c.118 others(28): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCN1_chr7_143311111_143357083 | 143337807 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01261.hp2 others(33): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0006a0001c0032others(7): Show | a0001c0003t0001a0001c0006t0001a0001c0032t0001others(7): Show | a0001c0003t0001g0086a0001c0003t0001g0145a0001c0003t0001g0313others(32): Show | 36 | 414 | 0.0870 | -11 | c.140 others(30): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLCN1_chr7_143311111_143357083 | 143347634 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 414 | 0.0024 | -11 | c.240 others(28): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169629176 | TCTGTATC others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(99): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0019others(12): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(98): Show | 102 | 288 | 0.3542 | -11 | c.-16 others(28): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN3_chr4_169615578_169728673 | 169632716 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0052a0001c0002t0051 | a0001c0001t0052g0030a0001c0002t0051g0031 | 2 | 288 | 0.0069 | -11 | c.-16 others(28): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10169780 | TCTTTTCT others(4): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(50): Show | 54 | 264 | 0.2046 | -11 | c.-12 others(30): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10204613 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02630.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0244a0001c0001t0003g0157a0001c0001t0005g0060others(3): Show | 6 | 264 | 0.0227 | -11 | c.556 others(28): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CLCN4_chrX_10151975_10242660 | 10239513 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0078 | 1 | 264 | 0.0038 | -11 | c.*59 others(22): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 1854 | chrX | TogoVar | ||||||
CLCN6_chr1_11801191_11848130 | 11829064 | GTTGACTG others(4): Show |
G | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 290 | 0.0035 | -11 | c.112 others(28): Show |
CLCN6 | ENSG00000011021.23 | transcript | ENST00000346436.11 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
CLCN6_chr1_11801191_11848130 | 11845740 | TCACTTTC others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02293.hp1 HG02698.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0030 | a0001c0001t0007g0033a0001c0001t0007g0034a0001c0001t0007g0035others(3): Show | 6 | 290 | 0.0207 | -11 | c.*55 others(22): Show |
CLCN6 | ENSG00000011021.23 | transcript | ENST00000346436.11 | protein_coding | 2611 | chr1 | TogoVar | ||||||
CLCN7_chr16_1439935_1480028 | 1455307 | CACGGACC others(4): Show |
C | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 404 | 0.0025 | -11 | c.982 others(24): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 11/24 | chr16 | TogoVar | ||||||
CLCNKB_chr1_16038782_16062308 | 16060097 | AGCGCAGG others(4): Show |
A | downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -11 | c.*31 others(22): Show |
CLCNKB | ENSG00000184908.20 | transcript | ENST00000375679.9 | protein_coding | 2790 | chr1 | TogoVar | ||||||
CLC_chr19_39726255_39743029 | 39739590 | TGCATAAT others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 442 | 0.0023 | -11 | c.-16 others(22): Show |
CLC | ENSG00000105205.7 | transcript | ENST00000221804.5 | protein_coding | 1562 | chr19 | TogoVar | ||||||
CLDN10_chr13_95547720_95584759 | 95563203 | AAGAGAGG others(4): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 400 | 0.0025 | -11 | c.464 others(28): Show |
CLDN10 | ENSG00000134873.10 | transcript | ENST00000299339.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLDN14_chr21_36455621_36485122 | 36479258 | CCTGGCTC others(4): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0125 | 1 | 424 | 0.0024 | -11 | c.-82 others(26): Show |
CLDN14 | ENSG00000159261.12 | transcript | ENST00000399135.6 | protein_coding | 1/1 | chr21 | TogoVar |