Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C1RL_chr12_7089554_7114214	7101131	T T	TTCCCTCC others(92): Show TTCCCTCCCTCCCTCCTTCCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCT TCTTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCTTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0217 a0001c0001t0010g0217	1	436	0.0023	99	c.490 others(114): Show c.490+766_490+767insGAAGGAAGGAAAGAAGGAAGGAGGGAGGGA GGGAGGGAAGGAAGGAAAGAAGGAAGGAGGGAGGGAAGGAAGGAAGGAAA GGAAGGAGGGAGGGAGGGA	C1RL	ENSG00000139178.12	transcript	ENST00000266542.9	protein_coding	3/5			chr12	TogoVar
C2CD4C_chr19_400445_414147	404510	G G	GAGGGGGA others(92): Show GAGGGGGAGACGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCC TGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	262	0.0038	99	c.25 others(110): Show c.2585_*2586insTCCACACCCCTCAGGGCAGGACCCGTCTCCCCCT CAGACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAG GACCCGTCTCCCCCT	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		934		chr19	TogoVar
CA10_chr17_51625320_52163714	51831667	A A	AAGCAGCA others(92): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	37	0.0270	99	c.280 others(118): Show c.280-83850_280-83849insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185647	G G	GGCATGTG others(92): Show GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG06807.hp2 HG02965.hp1 HG02965.hp2 HG06807.hp2	a0002 a0003 a0002 a0003	a0002c0011 a0002c0025 a0003c0133 a0002c0011 a0002c0025 a0003c0133	a0002c0011t0005 a0002c0025t0001 a0003c0133t0004 a0002c0011t0005 a0002c0025t0001 a0003c0133t0004	a0002c0011t0005g0274 a0002c0025t0001g0225 a0003c0133t0004g0045 a0002c0011t0005g0274 a0002c0025t0001g0225 a0003c0133t0004g0045	3	328	0.0091	99	c.300 others(116): Show c.300-9324_300-9323insCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185758	T T	TCGGCGTG others(92): Show TCGGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0050 a0050	a0050c0128 a0050c0128	a0050c0128t0037 a0050c0128t0037	a0050c0128t0037g0013 a0050c0128t0037g0013	1	315	0.0032	99	c.300 others(116): Show c.300-9206_300-9205insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	550768	C C	CCGGTGAG others(92): Show CCGGTGAGGGTCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGG TCAGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03927.hp1 NA20905.hp2 HG02602.hp2 HG03927.hp1 NA20905.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0072 a0001c0005t0007g0073 a0001c0005t0007g0074 a0001c0005t0007g0072 a0001c0005t0007g0073 a0001c0005t0007g0074	3	59	0.0508	99	c.206 others(116): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCAGTGAGGGTCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGG TGCCCCGTCGGTGAGGGTCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC126_chr7_23592382_23649708	23637726	C C	CGGCCAGC others(92): Show CGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG04184.hp1 HG02572.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0341 a0001c0001t0006g0190 a0001c0001t0001g0341 a0001c0001t0006g0190	2	149	0.0134	99	c.239 others(116): Show c.239-5188_239-5187insAGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCGCCCCGTCC	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC38_chr12_95862048_95947614	95908636	A A	AGAGGGAG others(92): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02145.hp2 NA18952.hp1 others(2): Show HG00423.hp2 HG02145.hp2 NA18952.hp1 NA18998.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0001c0001t0001 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0031 a0001c0001t0001g0105 a0001c0002t0001g0062 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0105 a0001c0002t0001g0062 a0002c0003t0002g0285 a0002c0003t0002g0307	5	56	0.0893	99	c.305 others(116): Show c.305-2186_305-2185insCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC38_chr12_95862048_95947614	95908642	G G	GGGAGAGG others(92): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	346	0.0029	99	c.305 others(116): Show c.305-2192_305-2191insTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCM2_chr7_44995201_45081453	45078842	T T	TGGGACAT others(92): Show TGGGACATCAGAAGGTGGTGAGGGGACACCAGAGAGTAATGGGACATCAG AAAGCGGTGAGGGGACACCAGAGAGTAATGGGACATCAGAAGGTGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0161 a0001c0006t0001g0161	1	313	0.0032	99	c.27 others(110): Show c.2785_*2786insGGGACATCAGAAGGTGGTGAGGGGACACCAGAGA GTAATGGGACATCAGAAAGCGGTGAGGGGACACCAGAGAGTAATGGGACA TCAGAAGGTGGTGAG	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		2390		chr7	TogoVar
CCNB1IP1_chr14_20306370_20338279	20310309	G G	GCCCCCCA others(92): Show GCCCCCCACCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	416	0.0024	99	c.12 others(110): Show c.1240_*1241insGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTC TGGCCGGGTGGGGGG	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding		1060		chr14	TogoVar
CCNB1IP1_chr14_20306370_20338279	20310347	T T	TGGGGGGG others(92): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02559.hp2 others(3): Show HG01255.hp2 HG02109.hp2 HG02559.hp2 HG02572.hp1 HG03041.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0160 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0160 a0001c0001t0001g0195 a0001c0001t0001g0220 a0001c0001t0001g0222	6	414	0.0145	99	c.12 others(110): Show c.1202_*1203insCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCC	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding		1022		chr14	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	ATATATAT others(92): Show ATATATATATATATATATATATATATATATATACTCATATATATATATAT ACTCATATATATATATATACTCATATATATATATATTCATATATATTCAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	218	0.0046	99	c.232 others(120): Show c.2326-11615_2326-11614insTATATATATATATATATATATATA TATATATACTCATATATATATATATACTCATATATATATATATACTCATA TATATATATATTCATATATATTCAT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	ATATATAT others(92): Show ATATATATATATATATATATATATATATATATATACTCATATATATATAT ATACTCATATATATATATATACTCATATATATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	218	0.0046	99	c.232 others(120): Show c.2326-11615_2326-11614insTATATATATATATATATATATATA TATATATATACTCATATATATATATATACTCATATATATATATATACTCA TATATATATATATTCATATATATTC	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(92): Show ATACACACACACACACACACACACACACACACACATATACATACACACAC ACACACACATATATATACACACACATATATATATACACACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18997.hp2 NA18999.hp2 NA18950.hp2 NA18997.hp2 NA18999.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0110 a0002c0003t0003g0127 a0002c0003t0003g0161 a0002c0003t0003g0110 a0002c0003t0003g0127 a0002c0003t0003g0161	3	272	0.0110	99	c.13 others(110): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1073		chr7	TogoVar
CD163L1_chr12_7349960_7449153	7437238	T T	TTTTAAAT others(92): Show TTTTAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAA ATACTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0291 a0001c0002t0003g0291	1	325	0.0031	99	c.125 others(116): Show c.125-3545_125-3544insTACTATTTAAATAGTATTTAAATACTAT TTAAATACTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAAT AGTATTTAAATAGTATTTAAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437238	T T	TTTTAAAT others(92): Show TTTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAA ATACTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01071.hp2 NA18953.hp1 others(4): Show HG00544.hp1 HG01071.hp2 NA18953.hp1 NA19057.hp2 NA19074.hp2 NA19077.hp1 NA19085.hp1	a0001 a0013 a0001 a0013	a0001c0002 a0013c0024 a0001c0002 a0013c0024	a0001c0002t0001 a0001c0002t0002 a0013c0024t0001 a0001c0002t0001 a0001c0002t0002 a0013c0024t0001	a0001c0002t0001g0023 a0001c0002t0001g0259 a0001c0002t0001g0283 others(3): Show a0001c0002t0001g0023 a0001c0002t0001g0259 a0001c0002t0001g0283 a0001c0002t0001g0290 a0001c0002t0002g0263 a0013c0024t0001g0262	7	331	0.0211	99	c.125 others(116): Show c.125-3545_125-3544insTACTATTTAAATAGTATTTAAATACTAT TTAAATACTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437238	T T	TTTTAAAT others(92): Show TTTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAA ATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00733.hp2 others(41): Show HG00408.hp2 HG00423.hp2 HG00733.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02135.hp1 HG02698.hp1 HG03492.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp2 NA18747.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18956.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp2 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18991.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19054.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp2	a0001 a0009 a0021 others(1): Show a0001 a0009 a0021 a0024	a0001c0002 a0009c0015 a0021c0021 others(1): Show a0001c0002 a0009c0015 a0021c0021 a0024c0022	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0009c0015t0001 a0021c0021t0003 a0024c0022t0001	a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0028 others(38): Show a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0028 a0001c0002t0001g0111 a0001c0002t0001g0250 a0001c0002t0001g0256 a0001c0002t0001g0267 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0293 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0320 a0001c0002t0001g0340 a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0313 a0001c0002t0003g0254 a0001c0002t0003g0261 a0001c0002t0003g0297 a0001c0002t0003g0299 a0001c0002t0003g0316 a0009c0015t0001g0264 a0009c0015t0001g0295 a0021c0021t0003g0258 a0024c0022t0001g0268	44	368	0.1196	99	c.125 others(116): Show c.125-3545_125-3544insTACTATTTAAATAGTATTTAAATACTAT TTAAATACTATTTAAATACTATTTAAATAGTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437238	T T	TTTTAAAT others(92): Show TTTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAA ATACTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	325	0.0031	99	c.125 others(116): Show c.125-3545_125-3544insTACTATTTAAATAGTATTTAAATACTAT TTAAATACTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAAT ACTATTTAAATACTATTTAAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437247	G G	GTATTTAA others(92): Show GTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAATAGTATTT AAATAGTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAATAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	381	0.0026	99	c.125 others(116): Show c.125-3554_125-3553insGTATTTAAATACTATTTAAATAGTATTT AAATACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATAG TATTTAAATACTATTTAAATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(92): Show TTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00621.hp2 others(23): Show HG00408.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp2 HG02040.hp2 HG02165.hp1 HG02523.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18960.hp1 NA18971.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18998.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19068.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0010t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0108 others(23): Show a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0308 a0001c0001t0001g0321 a0001c0001t0001g0334 a0001c0001t0011g0074 a0001c0001t0012g0192 a0001c0010t0001g0292	26	335	0.0776	99	c.336 others(114): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDH12_chr5_21745673_22858344	21868092	C C	CTTTCACC others(92): Show CTTTCACCGTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTGT GAATCCAATTAAACCTCTTTCTTTTGTAAATTGCCTCTTTCTTTTGTAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02647.hp2 HG02896.hp1 others(2): Show HG01070.hp2 HG02647.hp2 HG02896.hp1 HG03579.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0016 a0002c0004t0003 a0006c0012t0002	a0001c0001t0001g0043 a0001c0001t0002g0028 a0001c0002t0016g0032 others(2): Show a0001c0001t0001g0043 a0001c0001t0002g0028 a0001c0002t0016g0032 a0002c0004t0003g0016 a0006c0012t0002g0048	5	44	0.1136	99	c.527 others(118): Show c.527-13303_527-13302insTTTACAAAAGAAAGAGGCAATTTACA AAAGAAAGAGGTTTAATTGGATTCACAGTTCCACATGGCTGGGGAGGCCT CACAATCATGGTGGACGGTGAAA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	6/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	21868092	C C	CTTTCACC others(92): Show CTTTCACCGTCCACCATGATTGTGAGGCCTCCCCAGCCATGTGGAACTGT GAGTCCAATTAAACCTCTTTCTTTTGTAAATTGCCTCTTTCTTTTGTAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02258.hp1 NA18906.hp1 HG01358.hp1 HG02258.hp1 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0004 a0005c0009t0001 a0001c0002t0004 a0005c0009t0001	a0001c0002t0004g0007 a0001c0002t0004g0008 a0005c0009t0001g0006 a0001c0002t0004g0007 a0001c0002t0004g0008 a0005c0009t0001g0006	3	42	0.0714	99	c.527 others(118): Show c.527-13401_527-13303dupTTTACAAAAGAAAGAGGCAATTTACA AAAGAAAGAGGTTTAATTGGACTCACAGTTCCACATGGCTGGGGAGGCCT CACAATCATGGTGGACGGTGAAA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	6/14			chr5	TogoVar
CDH4_chr20_61247261_61945617	61383431	T T	TGAATATA others(92): Show TGAATATATATGATTATATATGAATATATGATATATGATATATCTGAATA TATATCACATATATGAACATATATAAGAATATATATCACATATATGAACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	71	0.0141	99	c.169 others(120): Show c.169+128494_169+128495insGAATATATATGATTATATATGAAT ATATGATATATGATATATCTGAATATATATCACATATATGAACATATATA AGAATATATATCACATATATGAACA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDKL5_chrX_18420608_18645196	18475012	G G	GCAGTGGC others(92): Show GCAGTGGCAATCTCAGCTCACTGCAACCGCTACCTCCTGGGTTTCAAGCA ATTCTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACGCACC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0062 a0001c0001t0039g0062	1	190	0.0053	99	c.-16 others(120): Show c.-162-31881_-162-31880insTCAAGCAATTCTCTCCTGCCTCAG CCTCCTGAGTAGCTAGGATTACAGGCACGCACCCAGTGGCAATCTCAGCT CACTGCAACCGCTACCTCCTGGGTT	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CELSR1_chr22_46356174_46542620	46373650	T T	TGGGGAGA others(92): Show TGGGGAGATGGGGGAGAAGGGGGAGATGGGGGAGAAGGGGGAGATGGGGG AGATGGGGGAGAAGGGGGAGATGGGGGAGATGGGGGAGAAGGGGGAGATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0004 a0006c0022t0004	a0006c0022t0004g0039 a0006c0022t0004g0039	1	100	0.0100	99	c.758 others(116): Show c.7585-594_7585-593insCATCTCCCCCTTCTCCCCCATCTCCCCC ATCTCCCCCTTCTCCCCCATCTCCCCCATCTCCCCCTTCTCCCCCATCTC CCCCTTCTCCCCCATCTCCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	24/34			chr22	TogoVar
CELSR3_chr3_48631463_48667886	48647551	A A	AGGGAGGG others(92): Show AGGGAGGGTGGAGGGGAGATGTGGGAGGGTGGAGGGTGGAGGGGAGATGT GGGAGGGAGGGTGGAGGGGAGATGTGGGAGGGAGGGTGGAGGGGAGATGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0075 a0003c0003t0002g0075	1	204	0.0049	99	c.712 others(116): Show c.7129+191_7129+289dupACATCTCCCCTCCACCCTCCCTCCCACA TCTCCCCTCCACCCTCCCTCCCACATCTCCCCTCCACCCTCCACCCTCCC ACATCTCCCCTCCACCCTCCC	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding	20/34			chr3	TogoVar
CEP19_chr3_196701277_196717250	196703550	G G	GCAGCCCC others(92): Show GCAGCCCCAGGCAGCCATAATCAATTCCCATCCCCCGCCCCAGGCAGCCA TAATCAATTCCCATCCCCAGCCCCAGGCAGCCATAATCAATTCTCATCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(111): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01891.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18953.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0002g0001 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0005g0007 a0001c0001t0005g0010 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0084 a0001c0001t0007g0013 a0001c0001t0007g0048 a0001c0001t0013g0037 a0001c0001t0017g0046	114	424	0.2689	99	c.39 others(110): Show c.3902_*4000dupGGGATGAGAATTGATTATGGCTGCCTGGGGCTGG GGATGGGAATTGATTATGGCTGCCTGGGGCGGGGGATGGGAATTGATTAT GGCTGCCTGGGGCTG	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		2726		chr3	TogoVar
CEP19_chr3_196701277_196717250	196703585	C C	CGCCCCAG others(92): Show CGCCCCAGGCAGCCATAATCAATTCCCATCCCCAGCCCCAGGCAGCCATA ATCAATTCTCATCCCCAGCCCCAGGCAGCCATAATCAATTCCCATCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 NA18987.hp2 NA18991.hp1 others(3): Show HG00621.hp2 NA18987.hp2 NA18991.hp1 NA19060.hp2 NA19072.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 a0001c0001t0002 a0001c0001t0007 a0001c0001t0018	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0007g0050 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0007g0050 a0001c0001t0018g0043	6	422	0.0142	99	c.39 others(110): Show c.3965_*3966insAGGGGATGGGAATTGATTATGGCTGCCTGGGGCT GGGGATGAGAATTGATTATGGCTGCCTGGGGCTGGGGATGGGAATTGATT ATGGCTGCCTGGGGC	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		2691		chr3	TogoVar
CEP19_chr3_196701277_196717250	196703674	T T	TCCCATCC others(92): Show TCCCATCCCCCGCCCCAGGCAGCCATAATCAATTCCCATCCCCAGCCCCA GGCAGCCATAATCAATTCTCATCCCCAGCCCCAGGCAGCCATAATCAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	430	0.0023	99	c.38 others(110): Show c.3876_*3877insCATTGATTATGGCTGCCTGGGGCTGGGGATGAGA ATTGATTATGGCTGCCTGGGGCTGGGGATGGGAATTGATTATGGCTGCCT GGGGCGGGGGATGGG	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		2602		chr3	TogoVar
CFAP46_chr10_132803392_132947570	132888579	G G	GCACCTGC others(92): Show GCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTGCACCCCTG CCGCCTGCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	204	0.0049	99	c.330 others(118): Show c.3305-2621_3305-2620insAAGGTGGCAGGGGTGAAGGTGGCAGG TGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGCAGGTGGCAGGTGCAGGC GGCAGGGGTGAAGGTGGCAGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914022	C C	CCCCCGGC others(92): Show CCCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	226	0.0044	99	c.212 others(116): Show c.2121-765_2121-764insTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914094	G G	GCCCGAGG others(92): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0050 a0050	a0050c0071 a0050c0071	a0050c0071t0002 a0050c0071t0002	a0050c0071t0002g0003 a0050c0071t0002g0003	1	226	0.0044	99	c.212 others(116): Show c.2121-837_2121-836insGCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914226	G G	GCCCGAGG others(92): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0024 a0024	a0024c0017 a0024c0017	a0024c0017t0001 a0024c0017t0001	a0024c0017t0001g0197 a0024c0017t0001g0197	1	239	0.0042	99	c.212 others(116): Show c.2121-969_2121-968insGCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914259	G G	GCCCGAGG others(92): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	231	0.0043	99	c.212 others(118): Show c.2121-1002_2121-1001insGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGGGGTGCA GTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914259	G G	GCCCGAGG others(92): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	231	0.0043	99	c.212 others(118): Show c.2121-1002_2121-1001insGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914292	G G	GCCCGAGG others(92): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0059 a0059	a0059c0044 a0059c0044	a0059c0044t0001 a0059c0044t0001	a0059c0044t0001g0183 a0059c0044t0001g0183	1	231	0.0043	99	c.212 others(118): Show c.2121-1035_2121-1034insGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914325	G G	GCCCGAGG others(92): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0123 a0008c0009t0001g0123	1	234	0.0043	99	c.212 others(118): Show c.2121-1068_2121-1067insGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGGCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP52_chr17_9571642_9648447	9631068	A A	AAGAAAGA others(92): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	272	0.0037	99	c.117 others(118): Show c.1175-1805_1175-1804insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP61_chr20_20047532_20365698	20357374	G G	GTGAGGGG others(92): Show GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAA GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0175 a0001c0003t0003g0175	1	136	0.0074	99	c.351 others(118): Show c.3514-2801_3514-2800insTACTGTGAGGGGAAGTGGTCACACTG AGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357593	C C	CTGAGGGG others(92): Show CTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAG GTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0007 a0009c0014t0007	a0009c0014t0007g0006 a0009c0014t0007g0006	1	199	0.0050	99	c.351 others(118): Show c.3514-2615_3514-2614insAGGGGAGGTGGTCACACTGTGAGGGG AGGTGGTCACACTGAGGAGAGGTGGTCACACTGTGAGGGGAGGTGGTCAC ACTGAGGAGAGGTGGTCATAGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357713	G G	GAGGGGAG others(92): Show GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAG GTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG06807.hp1 NA19030.hp2 HG02723.hp1 HG06807.hp1 NA19030.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0002c0009 a0006c0011 a0001c0003 a0002c0009 a0006c0011	a0001c0003t0001 a0002c0009t0003 a0006c0011t0003 a0001c0003t0001 a0002c0009t0003 a0006c0011t0003	a0001c0003t0001g0202 a0002c0009t0003g0107 a0006c0011t0003g0089 a0001c0003t0001g0202 a0002c0009t0003g0107 a0006c0011t0003g0089	3	221	0.0136	99	c.351 others(118): Show c.3514-2497_3514-2496insAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357753	G G	GAGGGGAG others(92): Show GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAG GTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0185 a0002c0032t0001g0185	1	233	0.0043	99	c.351 others(118): Show c.3514-2457_3514-2456insAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP74_chr1_1916957_2008786	1928334	C C	CGGGAAGG others(92): Show CGGGAAGGGCAAACCCGTGGGAGGAAGCCAGGCTGGGAAGGGCAAACCCG TGGGAGGAAGCCAGGCTGGGAAGGGCAAACCCGTGGGAGGAAGCCAGGCT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0064 a0009c0021t0001g0064	1	275	0.0036	99	c.338 others(116): Show c.3387+449_3387+450insAGCCTGGCTTCCTCCCACGGGTTTGCCC TTCCCAGCCTGGCTTCCTCCCACGGGTTTGCCCTTCCCAGCCTGGCTTCC TCCCACGGGTTTGCCCTTCCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38			chr1	TogoVar
CHRNA4_chr20_63338223_63366349	63354474	C C	CCTGTGGT others(92): Show CCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCTGTGGTCCCGGGGGG CTGTGGTCCTAGGGGGCTGTGGTCCTAAATGGGGCTGTGGTCCTGGGGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0032 a0001c0001t0015g0032	1	166	0.0060	99	c.383 others(116): Show c.383+1500_383+1501insCCCCCCAGGACCACAGCCCCATTTAGGA CCACAGCCCCCTAGGACCACAGCCCCCCGGGACCACAGCCCCCCCAGGAC CACAGCCCCCCAGGACCACAG	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CNGB3_chr8_86569179_86748634	86694080	A A	ACCCCCCC others(92): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCTGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0017 a0017	a0017c0014 a0017c0014	a0017c0014t0001 a0017c0014t0001	a0017c0014t0001g0066 a0017c0014t0001g0066	1	244	0.0041	99	c.339 others(118): Show c.339-22983_339-22982insGTCAGCCCCCCGCCCAGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGG	CNGB3	ENSG00000170289.13	transcript	ENST00000320005.6	protein_coding	3/17			chr8	TogoVar
CNR2_chr1_23865515_23918362	23899854	A A	AGAAAGAA others(92): Show AGAAAGAAAGAAAGAAGAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0020	a0004c0004t0020g0231 a0004c0004t0020g0231	1	248	0.0040	99	c.-46 others(118): Show c.-46+13391_-46+13392insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT CTTTCTTCTTCTTTCTTTCTTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTN6_chr3_1088024_1409217	1245304	A A	ATATAACA others(92): Show ATATAACATATATATATATATAACATATATATATATATAACATATATATA TATATAACATATATATATATAACATATATATATATAACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0167 a0001c0008t0001g0169 a0001c0008t0001g0167 a0001c0008t0001g0169	2	210	0.0095	99	c.358 others(118): Show c.358+17315_358+17316insACATATATATATATATAACATATATA TATATATAACATATATATATATATAACATATATATATATAACATATATAT ATATAACATATATATATATTATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311324	A A	ATACATAT others(92): Show ATACATATATGTACATATAAAATGGCTTTATATATACATATATGTACATA TAAAATGGCTTTTTATATACATATATGTACATATAAAATATCTTTATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp2 NA19030.hp2 HG03195.hp1 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0008 a0001c0003t0001 a0001c0006t0001 a0001c0002t0008 a0001c0003t0001 a0001c0006t0001	a0001c0002t0008g0221 a0001c0003t0001g0177 a0001c0006t0001g0112 a0001c0002t0008g0221 a0001c0003t0001g0177 a0001c0006t0001g0112	3	134	0.0224	99	c.762 others(118): Show c.762-10303_762-10302insGCTTTATATATACATATATGTACATA TAAAATGGCTTTTTATATACATATATGTACATATAAAATATCTTTATATG TACATATATGTACATATAAAATG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311535	C C	CATATAAA others(92): Show CATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTA TATGTACATATATGTACATATAAAATGTCTTTATATGTACATATATGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0205 a0001c0013t0001g0205	1	147	0.0068	99	c.762 others(118): Show c.762-10108_762-10107insATGTCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAAATGTCTTTAT ATGTACATATATGTGTATATAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results