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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN5_chr11_99015949_100363885 | 99817500 | CTTTTCAA others(29): Show |
C | intron_variant | MODIFIER | NA18939.hp2 | a0007 | a0007c0007 | a0007c0007t0023 | a0007c0007t0023g0046 | 1 | 66 | 0.0152 | -36 | c.56- others(51): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1098759 | CACACACA others(29): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(48): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(17): Show | a0001c0001t0001g0190a0001c0001t0001g0198a0001c0002t0001g0209others(48): Show | 51 | 232 | 0.2198 | -36 | c.-83 others(53): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1161239 | GATATATG others(29): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp1 HG00738.hp2 others(62): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0001g0029a0001c0001t0001g0035a0001c0001t0001g0071others(62): Show | 65 | 232 | 0.2802 | -36 | c.55+ others(53): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 2/22 | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146457481 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02630.hp1 others(5): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0012others(1): Show | a0001c0002t0001a0001c0004t0003a0001c0004t0005others(2): Show | a0001c0002t0001g0007a0001c0002t0001g0008a0001c0002t0001g0021others(5): Show | 8 | 40 | 0.2000 | -36 | c.98- others(55): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147225774 | GGAAGGAA others(29): Show |
G | intron_variant | MODIFIER | HG02486.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0007a0002c0016t0004 | a0001c0001t0007g0020a0002c0016t0004g0024 | 2 | 40 | 0.0500 | -36 | c.134 others(57): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147347421 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0002t0002a0001c0004t0003 | a0001c0001t0006g0009a0001c0002t0002g0013a0001c0004t0003g0035others(1): Show | 4 | 40 | 0.1000 | -36 | c.149 others(57): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76397938 | TTATATAC others(29): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02257.hp1 HG02698.hp1 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0014a0006c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0014t0006others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0002g0177others(3): Show | 6 | 274 | 0.0219 | -36 | c.391 others(55): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124860416 | CTTCCTTC others(29): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0051 | 1 | 64 | 0.0156 | -36 | c.321 others(55): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121092535 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03225.hp2 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0136a0004c0007t0001g0139 | 2 | 330 | 0.0061 | -36 | c.348 others(53): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69936092 | GGAGGGAA others(29): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0309 | 1 | 324 | 0.0031 | -36 | c.177 others(53): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120348173 | ATATATAT others(29): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 218 | 0.0046 | -36 | c.507 others(55): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45443084 | TGGTGCTG others(29): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0114 | 1 | 292 | 0.0034 | -36 | c.107 others(55): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45443092 | ATGTGGGC others(29): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(66): Show |
a0001a0003a0005others(11): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0012others(32): Show | a0001c0001t0001g0142a0001c0001t0001g0191a0001c0002t0002g0235others(66): Show | 69 | 292 | 0.2363 | -36 | c.107 others(55): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56121511 | TGTATATA others(29): Show |
T | intron_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0203 | 1 | 264 | 0.0038 | -36 | c.175 others(55): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138742807 | GGTGATGG others(29): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02717.hp1 |
a0001 | a0001c0008a0001c0014 | a0001c0008t0002a0001c0014t0001 | a0001c0008t0002g0096a0001c0014t0001g0126 | 2 | 158 | 0.0127 | -36 | c.208 others(55): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 22/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178269330 | TGTATCCA others(29): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG02071.hp2 HG02523.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0003a0001c0001t0004a0005c0008t0002 | a0001c0001t0003g0123a0001c0001t0004g0039a0001c0001t0004g0193others(1): Show | 4 | 236 | 0.0170 | -36 | c.469 others(51): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178302157 | CGGAGCAC others(29): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02451.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0003g0073a0001c0001t0003g0159a0001c0001t0003g0170others(19): Show | 22 | 236 | 0.0932 | -36 | c.406 others(53): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178403791 | AGAAAAGA others(29): Show |
A | intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 236 | 0.0042 | -36 | c.362 others(55): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109211274 | CTATATAT others(29): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 130 | 0.0077 | -36 | c.367 others(55): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203372 | TATACATA others(29): Show |
T | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 344 | 0.0029 | -36 | c.88- others(53): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227041763 | GAAGGAAG others(29): Show |
G | intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0263 | 1 | 284 | 0.0035 | -36 | c.350 others(53): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041771 | GAAGGAAG others(29): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0201 | 1 | 284 | 0.0035 | -36 | c.350 others(53): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041775 | GAAGGAAG others(29): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 | 1 | 284 | 0.0035 | -36 | c.350 others(53): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041779 | GAAGGAAG others(29): Show |
G | intron_variant | MODIFIER | HG04115.hp1 NA19079.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0208a0002c0002t0002g0182 | 2 | 284 | 0.0070 | -36 | c.350 others(53): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 46005444 | TAGGAAGA others(29): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG02965.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0006a0002c0002t0008 | a0001c0003t0006g0059a0002c0002t0008g0118 | 2 | 128 | 0.0156 | -36 | c.*14 others(47): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 397 | chr21 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237332070 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02293.hp1 |
a0017 | a0017c0024 | a0017c0024t0001 | a0017c0024t0001g0055a0017c0024t0001g0063 | 2 | 322 | 0.0062 | -36 | c.932 others(55): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237343512 | CTCAAAAA others(29): Show |
C | intron_variant | MODIFIER | NA18952.hp2 NA18975.hp1 |
a0006a0033 | a0006c0007a0033c0141 | a0006c0007t0002a0033c0141t0002 | a0006c0007t0002g0215a0033c0141t0002g0026 | 2 | 322 | 0.0062 | -36 | c.766 others(53): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237343514 | CAAAAAAA others(29): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01243.hp1 others(34): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0001c0037others(19): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(24): Show | a0001c0002t0001g0088a0001c0002t0001g0092a0001c0002t0002g0201others(34): Show | 37 | 322 | 0.1149 | -36 | c.766 others(53): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | ||||||
COLGALT2_chr1_183930834_184042728 | 183955655 | TGAAGAAT others(29): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0236a0001c0001t0010g0296a0001c0001t0010g0319others(1): Show | 4 | 340 | 0.0118 | -36 | c.953 others(51): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 6/11 | chr1 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 176151353 | AAAAGAAA others(29): Show |
A | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 300 | 0.0033 | -36 | c.763 others(53): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 5/19 | chr1 | TogoVar | ||||||
COQ3_chr6_99364401_99399195 | 99378105 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03453.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0045a0005c0005t0003g0255a0005c0005t0003g0256others(1): Show | 4 | 434 | 0.0092 | -36 | c.387 others(51): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226944714 | AGAGAGAG others(29): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00609.hp1 others(51): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(44): Show | 54 | 412 | 0.1311 | -36 | c.-10 others(53): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COQ8A_chr1_226935294_226992544 | 226944728 | AGAGAGAG others(29): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01934.hp2 HG02027.hp1 others(4): Show |
a0001a0002a0003 | a0001c0002a0002c0009a0003c0005 | a0001c0002t0003a0002c0009t0009a0003c0005t0005 | a0001c0002t0003g0372a0002c0009t0009g0028a0003c0005t0005g0373others(3): Show | 7 | 412 | 0.0170 | -36 | c.-10 others(53): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CPA6_chr8_67417038_67751360 | 67607169 | CTCTTCTT others(29): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0094a0002c0002t0001g0078 | 2 | 144 | 0.0139 | -36 | c.192 others(55): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16906337 | CCTTTCTT others(29): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0011 | a0011c0090 | a0011c0090t0001 | a0011c0090t0001g0255 | 1 | 278 | 0.0036 | -36 | c.402 others(53): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92258625 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0190 | 1 | 278 | 0.0036 | -36 | c.-11 others(55): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121047646 | TTTCTTCT others(29): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0043a0001c0001t0001g0071a0001c0001t0001g0083others(59): Show | 62 | 140 | 0.4429 | -36 | c.540 others(51): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121047682 | CTTCTTCT others(29): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 140 | 0.0071 | -36 | c.540 others(51): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPLX1_chr4_779957_831129 | 826399 | CGGGGCGG others(29): Show |
C | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 | 1 | 416 | 0.0024 | -36 | c.-46 others(45): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 271 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 826405 | GGGGGCGG others(29): Show |
G | upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 416 | 0.0024 | -36 | c.-47 others(45): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 277 | chr4 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131615889 | TCTCACAC others(29): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02922.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0041a0001c0001t0002g0078a0001c0002t0001g0020others(3): Show | 6 | 94 | 0.0638 | -36 | c.682 others(55): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 132005328 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | NA18990.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0003a0001c0001t0007g0004 | 2 | 94 | 0.0213 | -36 | c.-2+ others(53): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 132005330 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0069a0001c0001t0002g0070a0001c0001t0002g0072others(2): Show | 5 | 94 | 0.0532 | -36 | c.-2+ others(53): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587745 | CCCCCGTG others(29): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02818.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0006 | a0001c0002t0004g0133a0001c0007t0006g0157 | 2 | 348 | 0.0058 | -36 | c.927 others(51): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPQ_chr8_96640242_97148501 | 96717024 | AATATATA others(29): Show |
A | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 126 | 0.0079 | -36 | c.-34 others(55): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPXM2_chr10_123740639_123896807 | 123857542 | CGATGGAA others(29): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01071.hp2 others(55): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0025a0001c0001t0001g0111a0001c0001t0001g0126others(55): Show | 58 | 288 | 0.2014 | -36 | c.513 others(53): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8621118 | AGCAAGAA others(29): Show |
A | downstream_gene_variant | MODIFIER | NA18975.hp2 | a0013 | a0013c0024 | a0013c0024t0001 | a0013c0024t0001g0050 | 1 | 442 | 0.0023 | -36 | c.*15 others(47): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 1367 | chr4 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617590 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0282 | 1 | 360 | 0.0028 | -36 | c.689 others(53): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207617594 | TATATATA others(29): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0222 | 1 | 360 | 0.0028 | -36 | c.689 others(53): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRADD_chr12_93672375_93855756 | 93789683 | TCATGGTT others(29): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0144a0001c0001t0001g0148a0001c0001t0001g0233others(1): Show | 4 | 248 | 0.0161 | -36 | c.299 others(55): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |