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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHDC4_chr16_87702812_87770986 | 87739071 | C | CCATCCAC others(874): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 376 | 0.0027 | 881 | c.507 others(898): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(874): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0005 | a0001c0005t0021 | a0001c0005t0021g0105 | 1 | 6 | 0.1667 | 881 | c.100 others(900): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCTCCA others(874): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 6 | 0.1667 | 881 | c.100 others(900): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348443 | C | CTCCCTCA others(874): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0010 | a0001c0010t0023 | a0001c0010t0023g0254 | 1 | 274 | 0.0036 | 881 | c.100 others(900): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | chr15 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(874): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 125 | 0.0080 | 881 | c.-49 others(892): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(874): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0019 | a0019c0056 | a0019c0056t0001 | a0019c0056t0001g0049 | 1 | 173 | 0.0058 | 881 | c.641 others(896): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(874): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0273 | 1 | 139 | 0.0072 | 881 | c.141 others(898): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(874): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp2 others(92): Show |
a0002a0004a0005others(2): Show | a0002c0001a0004c0003a0004c0020others(3): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(16): Show | a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0011 others(90): Show |
95 | 105 | 0.9048 | 881 | c.385 others(900): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(874): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0208 | 1 | 11 | 0.0909 | 881 | c.385 others(900): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(874): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp2 |
a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0192 a0005c0004t0003g0254 |
2 | 12 | 0.1667 | 881 | c.385 others(900): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(874): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0252 | 1 | 11 | 0.0909 | 881 | c.385 others(900): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(874): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0164 | 1 | 30 | 0.0333 | 881 | c.433 others(898): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(874): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 122 | 0.0082 | 881 | c.*70 others(892): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(874): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0030 | a0030c0069 | a0030c0069t0001 | a0030c0069t0001g0114 | 1 | 34 | 0.0294 | 881 | c.299 others(896): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(874): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0031 | a0031c0029 | a0031c0029t0016 | a0031c0029t0016g0031 | 1 | 34 | 0.0294 | 881 | c.299 others(896): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(874): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02015.hp2 HG02132.hp2 others(13): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0007 | a0003c0005t0004g0007 a0003c0005t0007g0010 a0003c0005t0007g0102 |
16 | 31 | 0.5161 | 881 | c.*57 others(892): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(874): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 3 | 0.3333 | 881 | c.159 others(898): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(874): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 125 | 0.0080 | 881 | c.389 others(902): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852527 | C | CTCACCCC others(874): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0332 | 1 | 254 | 0.0039 | 881 | c.646 others(898): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(874): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 3 | 0.3333 | 881 | c.597 others(898): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377502 | C | CCCCACCC others(874): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 318 | 0.0031 | 881 | c.-15 others(892): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1477 | chr19 | TogoVar | |||||||
TMEM114_chr16_8564500_8595511 | 8564781 | G | GTGAATTA others(874): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 414 | 0.0024 | 881 | c.*49 others(892): Show |
TMEM114 | ENSG00000232258.7 | transcript | ENST00000620492.5 | protein_coding | 4718 | chr16 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(874): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 50 | 0.0200 | 881 | c.*24 others(892): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(874): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0009 | 1 | 99 | 0.0101 | 881 | c.392 others(898): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(874): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0026 | 2 | 342 | 0.0058 | 881 | c.-6- others(896): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(874): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0092 | 1 | 2 | 0.5000 | 881 | c.*53 others(892): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8466993 | T | TGGTGTGT others(874): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0007 | 1 | 237 | 0.0042 | 881 | c.*61 others(890): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 484 | chrX | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCCTT others(874): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 182 | 0.0055 | 881 | c.-10 others(898): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756433 | C | CGCTGCCA others(875): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0015 | 1 | 341 | 0.0029 | 882 | c.215 others(901): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756433 | C | CGCTGCCA others(875): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 341 | 0.0029 | 882 | c.215 others(901): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236756923 | C | CGCTGCCA others(875): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277 | 1 | 305 | 0.0033 | 882 | c.215 others(899): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111144 | T | TCTCCTAA others(875): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0045 | 1 | 294 | 0.0034 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111534 | A | ACCAGACC others(875): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0031 | 1 | 274 | 0.0036 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111641 | A | ACACCTCC others(875): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 196 | 0.0051 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111877 | C | CACCTGCC others(875): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 317 | 0.0032 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111893 | A | ACACCTCC others(875): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0173 | 1 | 158 | 0.0063 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(875): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0201 | 1 | 216 | 0.0046 | 882 | c.401 others(899): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89429090 | T | TTCTCAAC others(875): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02809.hp1 |
a0001a0008a0024 | a0001c0018a0008c0059a0024c0049 | a0001c0018t0001a0008c0059t0001a0024c0049t0001 | a0001c0018t0001g0266 a0008c0059t0001g0264 a0024c0049t0001g0265 |
3 | 306 | 0.0098 | 882 | c.-14 others(903): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89429194 | A | ACGTTCTA others(875): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0036 | 1 | 300 | 0.0033 | 882 | c.-14 others(903): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349867 | C | CAGGGGAA others(875): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 322 | 0.0031 | 882 | c.838 others(897): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(875): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 134 | 0.0075 | 882 | c.838 others(897): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687476 | C | CCCCGTGA others(875): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154 | 1 | 233 | 0.0043 | 882 | c.-18 others(893): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1631 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1833057 | G | GACAGAAG others(875): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0046a0001c0047a0001c0123 | a0001c0046t0001a0001c0047t0011a0001c0123t0001 | a0001c0046t0001g0333 a0001c0046t0001g0334 a0001c0047t0011g0331 others(2): Show |
5 | 321 | 0.0156 | 882 | c.-48 others(899): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833057 | G | GACAGAAG others(875): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG02083.hp2 others(13): Show |
a0001a0002a0015 | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0005a0001c0003t0053a0001c0004t0015others(13): Show | a0001c0001t0005g0150 a0001c0003t0053g0153 a0001c0004t0015g0025 others(13): Show |
16 | 332 | 0.0482 | 882 | c.-48 others(899): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(875): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0165 | 1 | 72 | 0.0139 | 882 | c.273 others(899): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(875): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01261.hp2 HG01515.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 a0001c0001t0002g0181 a0001c0001t0002g0185 others(5): Show |
8 | 17 | 0.4706 | 882 | c.327 others(899): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(875): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0009 | 1 | 243 | 0.0041 | 882 | c.666 others(897): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(875): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0198 | 1 | 56 | 0.0179 | 882 | c.-29 others(893): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(875): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG02004.hp1 others(6): Show |
a0003a0021 | a0003c0004a0021c0028 | a0003c0004t0003a0021c0028t0003 | a0003c0004t0003g0079 a0003c0004t0003g0088 a0003c0004t0003g0089 others(6): Show |
9 | 64 | 0.1406 | 882 | c.-29 others(893): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(875): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 |
a0004a0015 | a0004c0025a0015c0037 | a0004c0025t0005a0015c0037t0005 | a0004c0025t0005g0140 a0015c0037t0005g0138 |
2 | 5 | 0.4000 | 882 | c.342 others(901): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar |