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
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(201): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATATATACCCATGGGTATATATATATATATATATATATACCCATGGGT ATATATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATACCCATGGGTATATATATATATATATATATATATATATAT ACCCATGGG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0211 a0001c0002t0003g0211	1	336	0.0030	208	c.-81 others(227): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATACCCATGGG TATATATATATATATATATATATATATATATACCCATGGGTATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATATATA TACCCATGGGTATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTRC_chr10_101349165_101562313	101366918	T T	TTATATAT others(201): Show TTATATATATATTTATATATAAATATATATTTATATATATTAATATATAT TAATATATATTTTTATATATTTATATATTTATATATATTAATATATATAT TTATATATTTATATATATTTATATATATTTATATATATATTTATATATTT ATATATATTTATATATATTTATATATATATTTATATATTTATATATATTT ATATATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0071 a0001c0001t0011g0071	1	212	0.0047	208	c.48+ others(225): Show c.48+12699_48+12700insATTTATATATAAATATATATTTATATAT ATTAATATATATTAATATATATTTTTATATATTTATATATTTATATATAT TAATATATATATTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATTTATATATATAT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
C11orf21_chr11_2290628_2306918	2306799	A A	AAGGAGGG others(201): Show AAGGAGGGAAAAGGGGGGAGAAGGGAGAGGGAGAGGGGGAGGGAGAGGGA GGGGGAGGGGGGAGAAGAAGGAGGGAGGGGGAGAAGGGAAGAGGAGGGAG AAGGAGGGAGGACAAGGGAGGAGGAGATGGAGGAGGGGGAAGGAGGAGGA AAAAGAGGAAAGAAGGTGAGGAGAAGAAAGAGGGGGAGGGTGGAGGGAGG AGGAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	424	0.0047	208	c.-49 others(219): Show c.-4992_-4991insCTTCCTCCTCCTCCCTCCACCCTCCCCCTCTTTC TTCTCCTCACCTTCTTTCCTCTTTTTCCTCCTCCTTCCCCCTCCTCCATC TCCTCCTCCCTTGTCCTCCCTCCTTCTCCCTCCTCTTCCCTTCTCCCCCT CCCTCCTTCTTCTCCCCCCTCCCCCTCCCTCTCCCTCCCCCTCTCCCTCT CCCTTCTCCCCCCTTTTCCCTCCT	C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding		4882		chr11	TogoVar
C17orf99_chr17_78141385_78171297	78143074	A A	ACAGGTTC others(201): Show ACAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTAG AGGCACCTACCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTTGT TTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTTGCT CTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACC TCTGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG02071.hp1 others(5): Show HG00639.hp1 HG01106.hp2 HG02071.hp1 HG02615.hp1 HG02809.hp2 HG03195.hp2 NA18952.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0002c0002t0001 a0002c0002t0006	a0001c0001t0001g0121 a0001c0001t0004g0136 a0001c0001t0007g0135 others(4): Show a0001c0001t0001g0121 a0001c0001t0004g0136 a0001c0001t0007g0135 a0001c0003t0001g0002 a0002c0002t0001g0046 a0002c0002t0006g0137 a0002c0002t0006g0138	8	264	0.0303	208	c.-33 others(219): Show c.-3334_-3333insCAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTG AGTAGCTGGGACTAGAGGCACCTACCACCATGCCTGGCTAATTTTTTGTT TTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTG AGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCT TGGCTCACTGCAACCTCTGCCTCC	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding		3310		chr17	TogoVar
C2orf80_chr2_208160347_208195030	208176938	T T	TATGTATA others(201): Show TATGTATACATATCTGTATACATATCTGTATACATATGTATACATATCTG TATACATATGTATACATATCTGTATACATATGTATACATATCTGTATACA TATGTATACAGATCTGTATACATATGTATACAGATCTGTATACATATGTA TACATATCTGTATACATATGTATACATATCTGTATACATATGTATACATA TCTGTATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0038 a0005c0006t0002g0038	1	233	0.0043	208	c.366 others(225): Show c.366+3806_366+3807insGTATACAGATATGTATACATATGTATAC AGATATGTATACATATGTATACAGATATGTATACATATGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTATACAGATATGTATAC ATATGTATACAGATATGTATACATATGTATACAGATATGTATACATATGT ATACAGATATGTATACAGATATGTATACAT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176941	C C	CTGTATAC others(201): Show CTGTATACATATGTATACATATCTGTATACATATGTATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTATACATATCTGTATACATAT GTATACATATCTGTATACATATGTATACATATCTGTATACATATGTATAC ATATCTGTATACATATGTATACATATCTGTATACATATGTATACATATCT GTATACATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	233	0.0043	208	c.366 others(225): Show c.366+3803_366+3804insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACATATGTATACAGATATGTA TACATATGTATACAGATATGTATACATATGTATACAGATATGTATACATA TGTATACAGATATGTATACATATGTATACA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C7orf50_chr7_992006_1143247	1089920	T T	TAAAAATA others(201): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GTTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0160 a0001c0001t0007g0160	1	321	0.0031	208	c.129 others(227): Show c.129+37336_129+37337insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(201): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGCATGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0001 a0012c0024t0001	a0012c0024t0001g0303 a0012c0024t0001g0303	1	103	0.0097	208	c.300 others(225): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(201): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0160 a0002c0013t0001g0160	1	103	0.0097	208	c.300 others(225): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191190	C C	CTCTGACC others(201): Show CTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGG TCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCA CACTCGGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp1 NA18906.hp1 HG02145.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0032 a0001c0041 a0001c0032 a0001c0041	a0001c0032t0020 a0001c0041t0001 a0001c0032t0020 a0001c0041t0001	a0001c0032t0020g0265 a0001c0032t0020g0266 a0001c0041t0001g0219 a0001c0032t0020g0265 a0001c0032t0020g0266 a0001c0041t0001g0219	3	323	0.0093	208	c.300 others(225): Show c.300-3779_300-3778insGACCCAGCAGGCTGGCCTGGCTGTGTGG CCTCAGGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTG TGGCCTCAGGCACACTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCT GTGTGGCCTCAGGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTG GCTGTGTGGCCTCAGGCACACTCGGGGTCT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM1_chr11_115164236_115509415	115328696	A A	ATATGTAT others(201): Show ATATGTATATACATATATACGCGTATATATATGTATATACATATATACGC GTATATATATGTATATACATATATATACGCGTATATATATGTATATACAT ATATACGCGTATATATATGTATATACATATATATACGCGTATATATATGT ATATACATATATATACGCGTATATATATGTATATACATATATATACGCGT ATATATATG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0054 a0001c0001t0007g0054	1	164	0.0061	208	c.125 others(227): Show c.125-88277_125-88276insCATATATATACGCGTATATATATGTA TATACATATATATACGCGTATATATATGTATATACATATATATACGCGTA TATATATGTATATACATATATATACGCGTATATATGTATATACATATATA TACGCGTATATATATGTATATACATATATATACGCGTATATATGTATATA CATATATATACGCGTATATATGTATATACATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(201): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATATACATATATACG CGTATATATATGTATATACATATATATACGCGTATATATATGTATATACA TATATATACGCGTATATATATGTATATACATATATATACGCGTATATATA TGTATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp1 HG01255.hp2 others(17): Show HG01074.hp2 HG01109.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG02071.hp2 HG02145.hp2 HG02451.hp1 HG02602.hp1 HG03209.hp1 HG03209.hp2 HG04115.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0019 a0001c0001t0029 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0061	a0001c0001t0001g0107 a0001c0001t0001g0148 a0001c0001t0002g0057 others(17): Show a0001c0001t0001g0107 a0001c0001t0001g0148 a0001c0001t0002g0057 a0001c0001t0002g0093 a0001c0001t0002g0111 a0001c0001t0004g0026 a0001c0001t0004g0076 a0001c0001t0005g0084 a0001c0001t0005g0128 a0001c0001t0007g0013 a0001c0001t0012g0021 a0001c0001t0012g0063 a0001c0001t0012g0102 a0001c0001t0019g0114 a0001c0001t0019g0115 a0001c0001t0029g0098 a0001c0001t0039g0140 a0001c0001t0040g0142 a0001c0001t0045g0059 a0001c0001t0061g0152	20	68	0.2941	208	c.125 others(227): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAT ACGCGTATATATATGTATATACATATATATACGCGTATATATGTATATAC ATATATATACGCGTATATATGTATATACATATATATACGCGTATATATGT ATATACATATATATACGCGTATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(201): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACATGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	11	0.0909	208	c.218 others(223): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACATGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(201): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02145.hp1 HG02622.hp1 others(2): Show HG01516.hp2 HG02145.hp1 HG02622.hp1 HG02965.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0014 a0002c0002t0001g0043 a0002c0002t0001g0069 others(2): Show a0002c0002t0001g0014 a0002c0002t0001g0043 a0002c0002t0001g0069 a0002c0002t0001g0078 a0002c0002t0002g0230	5	15	0.3333	208	c.218 others(223): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(201): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACATACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTGTGTGTATATATACACACACATATACACA CACGTGTGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0231 a0002c0003t0001g0231	1	11	0.0909	208	c.218 others(223): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACATACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTGTGTGTATAT ATACACACACATATACACACACGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(201): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACATACATATATGTGTGTGTATATACACACACATATATGTATGTG TATATATACACACATATATGTATGTGTATATATACACACACATATACACA CACGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	11	0.0909	208	c.218 others(223): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACATACATATATGTGTGTGTATATAC ACACACATATATGTATGTGTATATATACACACATATATGTATGTGTATAT ATACACACACATATACACACACGTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12387381	T T	TTATATTT others(201): Show TTATATTTTATATATATAATATATATATTATATATTATATTTTATATATA TAATATATATATTATATATATTTTATATATATAATATATATATTATATAT ATTTTATATATATAATATATATATTATATATTATATTTTATATATATAAT ATATATATTATATATATTTTATATATAATATATATATTATATATATTTTA TATATATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03486.hp2 HG06807.hp2 HG02809.hp1 HG03486.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0105 a0001c0001t0106 a0001c0001t0085 a0001c0001t0105 a0001c0001t0106	a0001c0001t0085g0110 a0001c0001t0105g0111 a0001c0001t0106g0109 a0001c0001t0085g0110 a0001c0001t0105g0111 a0001c0001t0106g0109	3	213	0.0141	208	c.92+ others(225): Show c.92+37476_92+37477insTTTATATATATAATATATATATTATATA TTATATTTTATATATATAATATATATATTATATATATTTTATATATATAA TATATATATTATATATATTTTATATATATAATATATATATTATATATTAT ATTTTATATATATAATATATATATTATATATATTTTATATATAATATATA TATTATATATATTTTATATATATAATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12520921	A A	AAGAGGGA others(201): Show AAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	208	0.0048	208	c.93- others(225): Show c.93-32304_93-32303insAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10			chr10	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATATGTGT others(201): Show ATATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACAC GCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACAC ACGCGTGTG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	234	0.0043	208	c.645 others(225): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTGTATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38736017	G G	GGCGGGGG others(201): Show GGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGG GGGTTCTGGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTT CTGGGGGCGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGG GGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGAGCGG GGCAGGTCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0067 a0002c0004t0001g0067	1	335	0.0030	208	c.158 others(223): Show c.1583+92_1583+93insTGACCTGCCCCGCTCCCAGAACCCCCGCCC CGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCGCAGAACCAC CGCCCCGCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCC GCAGAACCACCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGA ACCCCCGCCCCGCCCCCAGAACCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736026	G G	GGCGGGGC others(201): Show GGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGG GGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGG GGCGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGG GGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGAGCGG GGCAGGTCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0073 a0002c0004t0001g0073	1	324	0.0031	208	c.158 others(223): Show c.1583+83_1583+84insTGACCTGCCCCGCTCCCAGAACCCCCGCCC CGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCC GCAGAACCACCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCCAGAACCCC CGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCCCCAGAACCCCCGCCC CGCCCCGCCCCCAGAACCCCCGCCCCGC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(201): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGTC TCCCCCACGTCGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0044 a0001c0006t0001g0044	1	291	0.0034	208	c.-22 others(225): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(201): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01071.hp2 others(1): Show HG00621.hp1 HG01069.hp1 HG01071.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	4	21	0.1905	208	c.-22 others(219): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(201): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	18	0.0556	208	c.-22 others(219): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(201): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02165.hp2 HG01891.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0177 a0001c0001t0001g0003 a0001c0001t0001g0177	2	19	0.1053	208	c.-22 others(219): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(201): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 NA18984.hp2 HG01934.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0002g0002 a0001c0001t0001g0048 a0001c0001t0002g0002	2	19	0.1053	208	c.-22 others(219): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(201): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	208	c.-22 others(219): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293540	C C	CCACCTTC others(201): Show CCACCTTCCCATCCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCT GCCACAGCTCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGT CCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCTGCCACAGCTC ACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCT GCCACAGCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0256 a0001c0009t0002g0256	1	261	0.0038	208	c.411 others(225): Show c.4112+632_4112+633insAGCTGTGGCAGGCGAGGGGGCAGGAAGG TGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGG GGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGG CAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGACAGGAAGG TGGGCCGTGGCAGGTGAGGATGGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(201): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCA CCTGCCACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp2 NA19091.hp1 others(1): Show HG01496.hp1 HG01943.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0138 a0001c0001t0003g0275	4	109	0.0367	208	c.411 others(225): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGC CGTGGCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(201): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGTCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCA CCTGCCACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0253 a0006c0012t0001g0253	1	106	0.0094	208	c.411 others(225): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGC CGTGGCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCM2_chr7_44995201_45081453	45079309	A A	AGGGGACA others(201): Show AGGGGACACCAGAGAGTAATGAGGGGACATCAGAAGGTGATGAGGGGACA TCAGAAGGCGGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAGAG TAATGAGGGGACATCAGAAGGCGGTGAGGAGACATCAGAAGGCAGTGAGG GGACACCAGAGAGTAATGAGGGGACATCAGAAGGTGGTGAGGGGACACCA GAGAGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp1 others(59): Show HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02129.hp2 HG02132.hp2 HG02602.hp2 HG02717.hp2 HG02818.hp1 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03688.hp2 HG04184.hp1 NA18939.hp1 NA18948.hp1 NA18952.hp2 NA18956.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18979.hp1 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19078.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0005c0014 others(1): Show a0001c0001 a0001c0002 a0005c0014 a0006c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0005c0014t0001 a0006c0012t0001	a0001c0001t0001g0191 a0001c0002t0001g0013 a0001c0002t0001g0014 others(58): Show a0001c0001t0001g0191 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0314 a0001c0002t0002g0001 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0005c0014t0001g0165 a0006c0012t0001g0196	62	305	0.2033	208	c.32 others(219): Show c.3252_*3253insGGGGACACCAGAGAGTAATGAGGGGACATCAGAA GGTGATGAGGGGACATCAGAAGGCGGTGAGGGGACACCAGAGAGTAATGA GGGGACATCAGAGAGTAATGAGGGGACATCAGAAGGCGGTGAGGAGACAT CAGAAGGCAGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAAGGT GGTGAGGGGACACCAGAGAGTAAT	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		2857		chr7	TogoVar
CCM2_chr7_44995201_45081453	45079309	A A	AGGGGACA others(201): Show AGGGGACACCAGAGAGTAATGAGGGGACATCAGAAGGTGATGAGGGGACA TCAGAATGCGGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAGAG TAATGAGGGGACATCAGAAGGCGGTGAGGAGACATCAGAAGGCAGTGAGG GGACACCAGAGAGTAATGAGGGGACATCAGAAGGTGGTGAGGGGACACCA GAGAGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	244	0.0041	208	c.32 others(219): Show c.3252_*3253insGGGGACACCAGAGAGTAATGAGGGGACATCAGAA GGTGATGAGGGGACATCAGAATGCGGTGAGGGGACACCAGAGAGTAATGA GGGGACATCAGAGAGTAATGAGGGGACATCAGAAGGCGGTGAGGAGACAT CAGAAGGCAGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAAGGT GGTGAGGGGACACCAGAGAGTAAT	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		2857		chr7	TogoVar
CCSER2_chr10_84323589_84523517	84501835	A A	AAATATAT others(201): Show AAATATATATATATATATATATACTCATATATATATATATACTCATATAT ATATATATATATACTCATATATATATATACTCATATATATATATACTCAT ATATATATATACTCATATATATATATATATATATATACTCATATATATAT ATATATATATATACTCATATATATATATATATATACTCATATATATATAT ATATATACT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0042 a0003c0004t0007g0042	1	340	0.0029	208	c.232 others(229): Show c.2326-11614_2326-11613insAATATATATATATATATATATACT CATATATATATATATACTCATATATATATATATATATACTCATATATATA TATACTCATATATATATATACTCATATATATATATACTCATATATATATA TATATATATATACTCATATATATATATATATATATATACTCATATATATA TATATATATACTCATATATATATATATATATACT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(201): Show TTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTAT TTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAAT AGTATTTAAATACTATTTAAATAGTATTTAAATACTATTTAAATACTTTT AAATAAATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0001 a0019c0020t0001	a0019c0020t0001g0253 a0019c0020t0001g0253	1	146	0.0068	208	c.125 others(225): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATACTATTTAAATAGTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATACTATT TAAATACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATA GTATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CDC73_chr1_193117031_193259815	193162238	A A	ATAATATA others(201): Show ATAATATATATTATATATTATCTATTATATTGTATATAATATATATTATA TATTATCTATTATATTGTATATAATATATATTATATATTATCTATTATAT TGTATATAATATATATTATATATTATCTATTATATTGTATATAATATATA TTATATATTATCTATTATATTGTATATAATATAATATATATTATCTATTA TATTGTATG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	113	0.0088	208	c.972 others(225): Show c.972+9803_972+9804insTTATATATTATCTATTATATTGTATATA ATATATATTATATATTATCTATTATATTGTATATAATATATATTATATAT TATCTATTATATTGTATATAATATATATTATATATTATCTATTATATTGT ATATAATATATATTATATATTATCTATTATATTGTATATAATATAATATA TATTATCTATTATATTGTATGTAATATATA	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP299_chr4_80330730_80968750	80390522	T T	TATATATG others(201): Show TATATATGTATATATGTATACACACATATATGTATATATGTATATATGTA TACACACATATATGTATATATGTATATATGTATACACACATATATGTATA TATGTATACACACATATATGTATATATGTATACACACATATATGTATATA TGTATACACACATATATGTATATATGTATACACACATATATGTATATATG TATACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0095 a0001c0004t0001g0095	1	79	0.0127	208	c.242 others(227): Show c.242+27730_242+27731insATGTATATATGTATACACACATATAT GTATATATGTATACACACATATATGTATATATGTATACACACATATATGT ATATATGTATACACACATATATGTATATATGTATACACACATATATGTAT ATATGTATACACACATATATGTATATATGTATATATGTATACACACATAT ATGTATATATGTATATATGTATACACACATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132887524	C C	CCTCTCCT others(201): Show CCTCTCCTCTCCCCTCTTCTCTCCTCTCCCTTCTTCTCTCTCCTCTCCCC TCTTCTCTCCTCTCCCTTCTTCTCTCTCCTCTCCTCTCCTCTTCTCTCCT CTCCCTTCTTCTCTCTCCTCTCCTCTCTCCTCTTTCACCTCTCTCTCCTC TCCTCTCTCTCTCCTCTCCTCTCTCTCTCCGCTCCTCTCTCTCTCCTCTC CCCTCTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp2 others(7): Show HG00099.hp2 HG00323.hp1 HG00642.hp2 HG01099.hp2 HG01346.hp1 HG01952.hp1 HG02602.hp2 HG03704.hp2 HG04184.hp2 HG06807.hp1	a0004 a0058 a0061 a0004 a0058 a0061	a0004c0005 a0058c0048 a0061c0049 a0004c0005 a0058c0048 a0061c0049	a0004c0005t0001 a0004c0005t0002 a0058c0048t0001 others(1): Show a0004c0005t0001 a0004c0005t0002 a0058c0048t0001 a0061c0049t0001	a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 others(7): Show a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0224 a0004c0005t0001g0225 a0004c0005t0001g0227 a0004c0005t0002g0016 a0058c0048t0001g0226 a0061c0049t0001g0154	10	242	0.0413	208	c.330 others(227): Show c.3305-1566_3305-1565insAGAAGAGGGGAGAGGAGAGAGAGAGG AGCGGAGAGAGAGAGGAGAGGAGAGAGAGAGGAGAGGAGAGAGAGGTGAA AGAGGAGAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAGAAGAGGAGAG GAGAGGAGAGAGAAGAAGGGAGAGGAGAGAAGAGGGGAGAGGAGAGAGAA GAAGGGAGAGGAGAGAAGAGGGGAGAGGAGAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHM_chrX_85856180_86052558	85911210	T T	TATGAATA others(201): Show TATGAATATATATATAAATATATATATGAATATATATATGAATATATATA TGAATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATATATGAATATATATATGAATATATATATGAATATATATATGAA TATATATATGAATATATATATGAATATATATATGAATATATATATGAATA TATATATGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	243	0.0041	208	c.124 others(223): Show c.1244+50_1244+51insTCATATATATATTCATATATATATTCATAT ATATATTCATATATATATTCATATATATATTCATATATATATTCATATAT ATATTCATATATATATTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATTCATATATATAT TCATATATATATTTATATATATATTCAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CNTNAP5_chr2_124020287_124926219	124860414	C C	CCCTTCCT others(201): Show CCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02970.hp2 HG02717.hp2 HG02886.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0001 a0001c0002t0008 a0001c0001t0013 a0001c0002t0001 a0001c0002t0008	a0001c0001t0013g0042 a0001c0002t0001g0063 a0001c0002t0008g0058 a0001c0001t0013g0042 a0001c0002t0001g0063 a0001c0002t0008g0058	3	43	0.0698	208	c.321 others(227): Show c.3218-4883_3218-4882insTTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818272	G G	GTATGTAT others(201): Show GTATGTATACATATATGTATGTATACATATGTATACATATATGTATGTAT ACATATGTATACATATATGTATGTATACATATGTATACATATATGTATGT ATACATATGTATACATATATGTATGTATACATATGTATACATATATGTAT GTATACATATGTATACATATATGTATGTATACATATGTATACATATATGT ATGTATACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0058 a0001c0001t0033g0058	1	176	0.0057	208	c.41+ others(225): Show c.41+22883_41+22884insTGTATACATACATATATGTATACATATG TATACATACATATATGTATACATATGTATACATACATATATGTATACATA TGTATACATACATATATGTATACATATGTATACATACATATATGTATACA TATGTATACATACATATATGTATACATATGTATACATACATATATGTATA CATATGTATACATACATATATGTATACATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COL19A1_chr6_69861556_70217468	69921459	A A	ATCATATA others(201): Show ATCATATATATCATATATCATATATATCATATATATCATATATCATATAT ATCATATATATCATATATATCATATATATTCATATATTCATATATATCAT ATATATTCATATATTCATATATATCATATATATTCATATATTCATATATA TTCATATATATTCATATATTCATATATATTCATATATATTCATATATATT CATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0175 a0002c0003t0002g0175	1	163	0.0061	208	c.267 others(225): Show c.267-6440_267-6439insCATATATCATATATATCATATATATCAT ATATCATATATATCATATATATCATATATATCATATATATTCATATATTC ATATATATCATATATATTCATATATTCATATATATCATATATATTCATAT ATTCATATATATTCATATATATTCATATATTCATATATATTCATATATAT TCATATATATTCATATATATTCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098067	A A	ATATAAGT others(201): Show ATATAAGTATATAAATATATAAATATATATAAGTATATAAATATATATAT AAATATATATAAGTATATAAATATATATAAATATATATAAGTATATAAAT ATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGT ATATATAAATATATATAAATATATATAAGTATATATAAATATATAAAAAT ATATATAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0015	1	260	0.0038	208	c.181 others(227): Show c.1812+3404_1812+3405insCTTATATATATTTTTATATATTTATA TATACTTATATATATTTATATATATTTATATATACTTATATATATTTATA TATATATTTATATACTTATATATATTTATATATATTTATATACTTATATA TATTTATATATATTTATATACTTATATATATTTATATATATATTTATATA CTTATATATATTTATATATTTATATACTTATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138806066	G G	GTGTGTGT others(201): Show GTGTGTGTGTGTGATGGTGTGTGTGTGAGATGGTGTAGTTAATGCTGTGT GATGTGTGTGTGAGATGGTGCGTGTGTGATGGCGTGTGTGTGATGGTGTA GGTAATGGTGTGTGGTGGTGTATGATTGTGTGTGAGGGTGTATGTGATGG TGTGTGTAATGGTGTGTGATGGTGTGTGATGGTGTAGGTTAATGGTGTGT GGTGGTGTA	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19030.hp2 HG02615.hp1 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0004 a0002c0005t0002 a0002c0004t0004 a0002c0005t0002	a0002c0004t0004g0084 a0002c0005t0002g0086 a0002c0004t0004g0084 a0002c0005t0002g0086	2	156	0.0128	208	c.149 others(227): Show c.1494+1701_1494+1702insTACACCACCACACACCATTAACCTAC ACCATCACACACCATCACACACCATTACACACACCATCACATACACCCTC ACACACAATCATACACCACCACACACCATTACCTACACCATCACACACAC GCCATCACACACGCACCATCTCACACACACATCACACAGCATTAACTACA CCATCTCACACACACACCATCACACACACACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL4A1_chr13_110143963_110312157	110255625	C C	CAAGAAGG others(201): Show CAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0224 a0002c0004t0001g0224	1	327	0.0031	208	c.85- others(225): Show c.85-12892_85-12891insTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATATA others(201): Show TATATATACATATATGTGTATATATACATATATGTGTATATATGTGTATA TATACATATATATACATATATGTGTATATATACGTATATATACATATATG TGTATATATACGTATATATACATATATGTGTATATATACATATATGTGTA TATATGTGTATATATACATATATGTGTATATATACATATATGTGTATGTG TATATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	195	0.0051	208	c.88- others(225): Show c.88-34850_88-34849insACATATATGTGTATATATACATATATGT GTATATATGTGTATATATACATATATATACATATATGTGTATATATACGT ATATATACATATATGTGTATATATACGTATATATACATATATGTGTATAT ATACATATATGTGTATATATGTGTATATATACATATATGTGTATATATAC ATATATGTGTATGTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A1_chr21_45976770_46010048	45999971	G G	GATCATGG others(201): Show GATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGG GGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAG GATCATGGGGGGGGACGTGTGAGGATCATGGGAAGACGTGAGGATCATGG AGGGCATGTGAGGATCATGGGGGGAACATGTGAGGATCATAGGGGGACAT GTGAGGATC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0125 a0001c0001t0011g0125	1	22	0.0455	208	c.177 others(225): Show c.1776+286_1776+287insGAAGACGTGAGGATCATGGGGGGGACGT GTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTG GGGGGACCCGTGAGGATCATGGGGGGGGACGTGTGAGGATCATGGGAAGA CGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGAACATGTGAGGA TCATAGGGGGACATGTGAGGATCATCATGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158170	C C	CCTCCCTC others(201): Show CCTCCCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGT CTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCC CTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTC TCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGT CTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	256	0.0039	208	c.510 others(227): Show c.510+23996_510+23997insCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(201): Show CTCCCTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	21	0.0476	208	c.510 others(227): Show c.510+24113_510+24114insTCCCTCTCCCCTCTCTCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPNE7_chr16_89570758_89602246	89588191	G G	GCCCCCGT others(201): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAG ATACATGGC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0267 a0003c0006t0003g0267	1	210	0.0048	208	c.928 others(223): Show c.928-470_928-469insACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCAC AGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CACAGATACATGGCCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPT1C_chr19_49686116_49718731	49702080	A A	AATAAATA others(201): Show AATAAATATATATTTATTTATAATTTATAAATAAATATATATTTATTTAT AAATATATATTTATTTATAAATTATAAATAAATATATATTTATTTATTTA TAAATTATAAATAAATATATATTTATTTATTTATAAATTATAAATAAATA TATATTTATTTATTTATAAATTATAAATAAATATATATTTATAAATTATA AATAAATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp1 HG02615.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0163 a0001c0001t0001g0164	2	307	0.0065	208	c.693 others(223): Show c.693+449_693+450insAATATATATTTATTTATAATTTATAAATAA ATATATATTTATTTATAAATATATATTTATTTATAAATTATAAATAAATA TATATTTATTTATTTATAAATTATAAATAAATATATATTTATTTATTTAT AAATTATAAATAAATATATATTTATTTATTTATAAATTATAAATAAATAT ATATTTATAAATTATAAATAAATATATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar

Search by Variant

Search

Search Results