Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(101): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATATTATATATATATATTATATATATATTATATATATATATATA TATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	414	0.0024	108	c.50 others(119): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATATTATATATATATATTATATATATATT ATATATATATATATATATATTATA	BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding		3775		chr6	TogoVar
BTNL9_chr5_181035266_181066521	181048797	T T	TATATTAT others(101): Show TATATTATATAATTATATTAGTTATATAATATTATATAATTATATTAGTT ATATAATATTATATAATTATATTAGTTATATAATATTATATAATTATATT AGTTATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	390	0.0051	108	c.454 others(123): Show c.454+611_454+612insTATATAATTATATTAGTTATATAATATTAT ATAATTATATTAGTTATATAATATTATATAATTATATTAGTTATATAATA TTATATAATTATATTAGTTATATAATAT	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
C12orf56_chr12_64259762_64395758	64366356	T T	TATACAGT others(101): Show TATACAGTTTATATATATTATATATAACATACAGTTTATATATATTATAT ATAACATACAGTTTATATATATTATATATAACATACAGTTTATATATATT ATATATAAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18944.hp1 NA18969.hp2 HG03704.hp1 NA18944.hp1 NA18969.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0003 a0003c0004t0003 a0002c0002t0003 a0003c0004t0003	a0002c0002t0003g0207 a0003c0004t0003g0154 a0003c0004t0003g0158 a0002c0002t0003g0207 a0003c0004t0003g0154 a0003c0004t0003g0158	3	312	0.0096	108	c.253 others(127): Show c.253-13408_253-13301dupGTTATATATAATATATATAAACTGTA TGTTATATATAATATATATAAACTGTATGTTATATATAATATATATAAAC TGTATGTTATATATAATATATATAAACTGTAT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C14orf39_chr14_60430956_60491063	60433875	T T	TATAATAA others(101): Show TATAATAATGTTATATCATTATAGCTATATAATGTTATATCATTATAGTT ATATAATAATGTTATATCATTATAGTTATATAATAATGTTATATCATTAT AGCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	294	0.0034	108	c.29 others(119): Show c.2969_*2970insTATATAGCTATAATGATATAACATTATTATATAA CTATAATGATATAACATTATTATATAACTATAATGATATAACATTATATA GCTATAATGATATAACATTATTAT	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		2080		chr14	TogoVar
C14orf39_chr14_60430956_60491063	60433899	T T	TATAATAA others(101): Show TATAATAATGTTATATCATTATAGTTATATAATAATGTTATATCATTATA GCTATATAATAATGTTATATCATTATAGCTATATAATGTTATATCATTAT AGTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0043 a0005c0005t0001g0043	1	294	0.0034	108	c.29 others(119): Show c.2945_*2946insTATATAACTATAATGATATAACATTATATAGCTA TAATGATATAACATTATTATATAGCTATAATGATATAACATTATTATATA ACTATAATGATATAACATTATTAT	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		2056		chr14	TogoVar
C18orf63_chr18_74310839_74364189	74361909	T T	TATACGTA others(101): Show TATACGTATAATATAATTTATATTATATATGCATATATAATATAATTTAT ATTATATATGCATATATAATATAATTTATATTATATGCATATATAATATA ATTTATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	372	0.0027	108	c.54 others(119): Show c.5462_*5463insATACGTATAATATAATTTATATTATATATGCATA TATAATATAATTTATATTATATATGCATATATAATATAATTTATATTATA TGCATATATAATATAATTTATAAC	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2721		chr18	TogoVar
C1orf21_chr1_184382029_184634019	184559513	T T	TCCTTCCT others(101): Show TCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTCTCTCTCTCTTTCTTCCCCTCCCTCCCT CTCTTCCTC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	232	0.0043	108	c.190 others(127): Show c.190-31208_190-31207insCCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTCTCTCTCTCTTTCTTCCCCTCCC TCCCTCTCTTCCTCCCTTCCTTCCTTCCTTCC	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184559513	T T	TCCTTCCT others(101): Show TCCTTCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTCTCTCTTTCTTCCCCTCCCTCCCT CTCTTCCTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	232	0.0043	108	c.190 others(127): Show c.190-31208_190-31207insCCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCTCTCTTTCTTCCCCTCCC TCCCTCTCTTCCTCCCTTCCTTCCTTCCTTCC	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184559517	T T	TCCTTCCT others(101): Show TCCTTCCTTCCTTCCCCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTCTCTCTTTCTTCCCCTCCCTCCCT CTCTTCCTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0040 a0001c0001t0006g0027 a0001c0001t0006g0040	2	232	0.0086	108	c.190 others(127): Show c.190-31208_190-31207insCCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCTCTCTTTCTTCCCC TCCCTCCCTCTCTTCCTCCCTTCCTTCCTTCC	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C20orf96_chr20_265863_295750	279137	A A	AGGGAGGG others(101): Show AGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAG GGACGGAGGGAGGGAGGGACGGAGGGCGGGAGGGCGGGACGGAGGGACGG AGGGAGGGC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0277 a0001c0013t0001g0277	1	410	0.0024	108	c.465 others(121): Show c.465+34_465+35insGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCC GCCCTCCGTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTC CGTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145659	T T	TTATTATA others(101): Show TTATTATATTATATAATGATATATAATTTATTATATTATATAATGATATA TAATTTATTATATTATATAATGATATATAATTTATTATATAATGATATAT AATTTGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02074.hp2 others(4): Show HG02015.hp1 HG02015.hp2 HG02074.hp2 NA18972.hp2 NA18982.hp2 NA19063.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0106	7	398	0.0176	108	c.38 others(119): Show c.3880_*3881insTAACAAATTATATATCATTATATAATAAATTATA TATCATTATATAATATAATAAATTATATATCATTATATAATATAATAAAT TATATATCATTATATAATATAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3346		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32145686	A A	ATATTATA others(101): Show ATATTATATAATGATATATAATATAATTTATTATATAATGATATATAATA TAATTTATTATATAATGATATATAATATAATTTATTATATAATGATATAT AATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0032 a0002c0006t0002g0032	1	398	0.0025	108	c.38 others(119): Show c.3853_*3854insAATTATATTATATATCATTATATAATAAATTATA TTATATATCATTATATAATAAATTATATTATATATCATTATATAATAAAT TATATTATATATCATTATATAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3319		chr22	TogoVar
C2CD3_chr11_74007718_74176002	74110082	A A	AAAATAAA others(101): Show AAAATAAATAAATAAATAAATAAATAAAATAAAATAAAATAAAAAGAATT TGAGACCAGAATCAAAGGATTCCAGCCTAGGCAACAGAGTGAGACTCTGT CTCAAAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04228.hp2 HG06807.hp1 others(5): Show HG02280.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18943.hp2 NA18984.hp2 NA18999.hp2 NA19003.hp2	a0009 a0026 a0036 a0009 a0026 a0036	a0009c0010 a0026c0025 a0036c0042 a0009c0010 a0026c0025 a0036c0042	a0009c0010t0001 a0026c0025t0001 a0036c0042t0001 a0009c0010t0001 a0026c0025t0001 a0036c0042t0001	a0009c0010t0001g0303 a0009c0010t0001g0304 a0009c0010t0001g0305 others(5): Show a0009c0010t0001g0303 a0009c0010t0001g0304 a0009c0010t0001g0305 a0009c0010t0001g0306 a0009c0010t0001g0307 a0009c0010t0001g0308 a0026c0025t0001g0222 a0036c0042t0001g0302	8	318	0.0252	108	c.184 others(125): Show c.1844-931_1844-930insATTTTTGAGACAGAGTCTCACTCTGTTG CCTAGGCTGGAATCCTTTGATTCTGGTCTCAAATTCTTTTTATTTTATTT TATTTTATTTATTTATTTATTTATTTATTT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	11/32			chr11	TogoVar
C2CD4C_chr19_400445_414147	404477	G G	GGAGGGGG others(101): Show GGAGGGGGGGAACGGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGGAACGG GGGGTCCTGCCCTGAGGGGTTGTGGAGGGGGGGGACGGGGGTCCTGCCCT GAGGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	322	0.0031	108	c.26 others(119): Show c.2618_*2619insACACCCCTCAGGGCAGGACCCCCGTCCCCCCCCT CCACAACCCCTCAGGGCAGGACCCCCCGTTCCCCCCCTCCACACCCCTCA GGACAGGACCCCGTTCCCCCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		967		chr19	TogoVar
C8A_chr1_56849797_56923223	56885316	A A	ATATATAT others(101): Show ATATATATTTATATATATTTACATAAATATATATTTATATATATTTACAT AAATATATATTTATTTAAATATATATTTACATAAATATATATTTATTTAA ATATATATT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	366	0.0027	108	c.856 others(123): Show c.856-606_856-605insATTTATATATATTTACATAAATATATATTT ATATATATTTACATAAATATATATTTATTTAAATATATATTTACATAAAT ATATATTTATTTAAATATATATTTATAT	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA10_chr17_51625320_52163714	51717826	T T	TATACATA others(101): Show TATACATATATACACATATATATGTGTATATATATACACGTATATATATG TGTATATATACGTGTATATATATGTATATATATACGTGTATATATATGTA TATATATAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01516.hp2 NA18963.hp2 others(1): Show HG01256.hp1 HG01516.hp2 NA18963.hp2 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0133 others(1): Show a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0133 a0001c0002t0001g0139	4	156	0.0256	108	c.465 others(127): Show c.465+29806_465+29807insGTATATATATACATATATATACACGT ATATATATACATATATATACACGTATATATACACATATATATACGTGTAT ATATATACACATATATATGTGTATATATGTAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CACNA1C_chr12_2047987_2702950	2105605	T T	TGGGCGTC others(101): Show TGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTC AGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCA CCTCAGCTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp2 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0021 a0001c0024t0003 a0001c0001t0021 a0001c0024t0003	a0001c0001t0021g0055 a0001c0024t0003g0067 a0001c0001t0021g0055 a0001c0024t0003g0067	2	104	0.0192	108	c.50- others(123): Show c.50-9598_50-9597insCGCCCACCCCGGGGAGGGTTTCCACCTCAG CTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACC TCAGCTGGGGCGTCCTGAAGCCACTGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1186101	A A	ACGGCGTG others(101): Show ACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01069.hp1 others(44): Show HG00639.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01496.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG06807.hp1 NA18945.hp2 NA18951.hp1 NA18954.hp2 NA18966.hp1 NA18967.hp2 NA18979.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19080.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0010 a0016 a0019 a0020 a0024 a0028 a0038 a0043 a0046 a0047 a0060	a0001c0001 a0001c0094 a0002c0002 others(22): Show a0001c0001 a0001c0094 a0002c0002 a0002c0007 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0109 a0003c0133 a0004c0006 a0004c0019 a0010c0024 a0010c0062 a0010c0131 a0016c0134 a0019c0033 a0020c0021 a0024c0037 a0028c0049 a0038c0101 a0043c0085 a0046c0096 a0047c0082 a0060c0061	a0001c0001t0001 a0001c0094t0016 a0002c0002t0001 others(27): Show a0001c0001t0001 a0001c0094t0016 a0002c0002t0001 a0002c0002t0026 a0002c0007t0003 a0002c0008t0001 a0002c0008t0002 a0002c0010t0001 a0002c0011t0001 a0002c0011t0005 a0002c0012t0002 a0002c0109t0001 a0003c0133t0004 a0004c0006t0001 a0004c0006t0002 a0004c0019t0001 a0010c0024t0001 a0010c0024t0002 a0010c0062t0001 a0010c0131t0002 a0016c0134t0003 a0019c0033t0005 a0020c0021t0004 a0024c0037t0004 a0028c0049t0004 a0038c0101t0008 a0043c0085t0003 a0046c0096t0001 a0047c0082t0003 a0060c0061t0002	a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0231 others(44): Show a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0231 a0001c0001t0001g0281 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0094t0016g0093 a0002c0002t0001g0209 a0002c0002t0001g0244 a0002c0002t0026g0241 a0002c0007t0003g0070 a0002c0007t0003g0071 a0002c0007t0003g0304 a0002c0008t0001g0316 a0002c0008t0002g0233 a0002c0010t0001g0319 a0002c0010t0001g0320 a0002c0011t0001g0225 a0002c0011t0005g0273 a0002c0012t0002g0332 a0002c0012t0002g0333 a0002c0109t0001g0080 a0003c0133t0004g0046 a0004c0006t0001g0291 a0004c0006t0001g0294 a0004c0006t0001g0301 a0004c0006t0001g0303 a0004c0006t0001g0305 a0004c0006t0002g0234 a0004c0019t0001g0148 a0004c0019t0001g0222 a0010c0024t0001g0300 a0010c0024t0002g0334 a0010c0062t0001g0075 a0010c0131t0002g0331 a0016c0134t0003g0308 a0019c0033t0005g0254 a0019c0033t0005g0260 a0020c0021t0004g0235 a0024c0037t0004g0280 a0028c0049t0004g0321 a0038c0101t0008g0261 a0043c0085t0003g0048 a0046c0096t0001g0105 a0047c0082t0003g0072 a0060c0061t0002g0330	47	338	0.1391	108	c.300 others(125): Show c.300-8826_300-8825insGTAGACGGTCGGCGTGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186101	A A	ACGGCGTG others(101): Show ACGGCGTGCGTAGGGTCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0040 a0040	a0040c0100 a0040c0100	a0040c0100t0007 a0040c0100t0007	a0040c0100t0007g0111 a0040c0100t0007g0111	1	338	0.0030	108	c.300 others(125): Show c.300-8857_300-8856insTCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186101	A A	ACGGTGTG others(101): Show ACGGTGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0078 a0078	a0078c0046 a0078c0046	a0078c0046t0004 a0078c0046t0004	a0078c0046t0004g0076 a0078c0046t0004g0076	1	338	0.0030	108	c.300 others(125): Show c.300-8868_300-8867insTGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186153	G G	GGTCGGCG others(101): Show GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19000.hp2 HG02129.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0112 a0001c0001t0001g0113	2	338	0.0059	108	c.300 others(125): Show c.300-8785_300-8784insACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACAGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39566016	G G	GATGCTAG others(101): Show GATGCTAGTGTTGGTGTTGGTGATGGTGGTAGTGATGGTGGAGGTGGTGA TGGTGATGGTGGTAGTGATGATGATGCTGGTGGTGATGGTGGAGGTGGTG ATAATGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0134 a0001c0001t0009g0134	1	236	0.0042	108	c.-47 others(119): Show c.-4737_-4736insATGCTAGTGTTGGTGTTGGTGATGGTGGTAGTGA TGGTGGAGGTGGTGATGGTGATGGTGGTAGTGATGATGATGCTGGTGGTG ATGGTGGAGGTGGTGATAATGATA	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding		4736		chr22	TogoVar
CACNG4_chr17_66959707_67038398	66968527	G G	GCCTCCTC others(101): Show GCCTCCTCTCCCCTCCCCTCCTCCTCTCCCTCCTCTCCCCTTCCCTCCTC CTCTCCCTCCTCTCCCCTCCCCTCCTCCTCTCCCTCCTCTCCCCTCCCCT CCTCCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02258.hp1 others(3): Show HG01891.hp2 HG02055.hp2 HG02258.hp1 HG02896.hp2 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0023	a0001c0001t0002g0264 a0001c0001t0003g0266 a0001c0001t0003g0268 others(3): Show a0001c0001t0002g0264 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0023g0267	6	352	0.0171	108	c.220 others(125): Show c.220+3437_220+3544dupTCCCTCCTCCTCTCCCTCCTCTCCCCTC CCCTCCTCCTCTCCCTCCTCTCCCCTCCCCTCCTCCTCTCCCTCCTCTCC CCTCCCCTCCTCCTCTCCCTCCTCTCCCCT	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG7_chr19_53904278_53948950	53921301	T T	TGGTGCAG others(101): Show TGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCCTGG TCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGG CTGGTCATC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	364	0.0028	108	c.424 others(125): Show c.424+5800_424+5801insCAGTTGCCCCAGGTCTGGTCATTGGTGG AGTTGTCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATT GGTGGAGTTGTCCCAGGCTGGTCATCGGTG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922213	T T	TCATTGGT others(101): Show TCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGACTCAGGC TGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCA GGTCTGGTC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	364	0.0028	108	c.424 others(125): Show c.424+6708_424+6709insCATTGGTGCAGTTGCCCCAGGTCTGGTC ATTGGTGGAGTTGACTCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTG GTCATTGGTGGAGTTGCCCCAGGTCTGGTC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923650	C C	CAGTTGCC others(101): Show CAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCTAGGCCTGGTCATT GGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGCTGGT CATTGGTGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03834.hp2 HG03669.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0212 a0001c0001t0010g0233 a0001c0001t0001g0212 a0001c0001t0010g0233	2	364	0.0055	108	c.424 others(125): Show c.424+8180_424+8181insTAGGCCTGGTCATTGGTGGAGTTGTCCC CAGGCCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTG CCCCAGGTCTGGTCATTGGTGGAGTTGTCC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM1_chr11_115164236_115509415	115328708	A A	ACATATAT others(101): Show ACATATATACGCGTATATATATGTATATACATATATACGCGTATATATAT GTATATACATATATATACGCGTATATATATGTATATACATATATACGCGT ATATATATG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	164	0.0061	108	c.125 others(127): Show c.125-88289_125-88288insCATATATATACGCGTATATATGTATA TACATATATATACGCGTATATATATGTATATACATATATATACGCGTATA TATGTATATACATATATATACGCGTATATATG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CAMK1D_chr10_12344547_12840545	12623235	T T	TCCTTTCT others(101): Show TCCTTTCTCCCTCCTTTCTTTCCTTCCTCCCTCCCTCCGTCCCTCCCTCC CTCCCTTCTTTCCCTCCTCCCTCCCTCCCTCTCTCCCTCCTTTCTTTCCT TCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02055.hp2 HG02109.hp2 others(8): Show HG01928.hp1 HG02055.hp2 HG02109.hp2 HG02735.hp1 HG03471.hp2 HG03942.hp2 NA18945.hp2 NA18948.hp2 NA18954.hp1 NA18978.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0001t0072 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0052 a0001c0003t0022	a0001c0001t0001g0016 a0001c0001t0001g0176 a0001c0001t0002g0197 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0176 a0001c0001t0002g0197 a0001c0001t0029g0136 a0001c0001t0072g0057 a0001c0002t0008g0113 a0001c0002t0008g0205 a0001c0002t0011g0164 a0001c0002t0016g0186 a0001c0002t0052g0214 a0001c0003t0022g0024	11	214	0.0514	108	c.225 others(127): Show c.225-43498_225-43497insTTCTCCCTCCTTTCTTTCCTTCCTCC CTCCCTCCGTCCCTCCCTCCCTCCCTTCTTTCCCTCCTCCCTCCCTCCCT CTCTCCCTCCTTTCTTTCCTTCCTCCCTCCCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623243	T T	TCTTTCCT others(101): Show TCTTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCTTTCCCTC CTTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCTTTCTTTCCT TCTTCCCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0108 a0001c0001t0112 a0001c0001t0005 a0001c0001t0108 a0001c0001t0112	a0001c0001t0005g0040 a0001c0001t0108g0020 a0001c0001t0112g0038 a0001c0001t0005g0040 a0001c0001t0108g0020 a0001c0001t0112g0038	3	214	0.0140	108	c.225 others(127): Show c.225-43492_225-43491insTTTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCTTTCCCTCCTTCCTCCCTCCCTCTCTCCCTCCCTCC CTTCCTCCCTCCTTTCTTTCCTTCTTCCCTCC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CANT1_chr17_78986716_79014764	79004394	G G	GGAGAGGA others(101): Show GGAGAGGAGTTAGGGAGGGGGGAGTTAGGGAGGGGAGTTAGGGAGGGGAG TTAGGGAGAGGGGAGTTAGGGAGAGGAGTTGGGGGGGAGTTAGGGAGGGG TGTTAGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0094 a0001c0003t0002g0094	1	394	0.0025	108	c.-14 others(127): Show c.-147+5269_-147+5270insTCCCTAACACCCCTCCCTAACTCCCC CCCAACTCCTCTCCCTAACTCCCCTCTCCCTAACTCCCCTCCCTAACTCC CCTCCCTAACTCCCCCCTCCCTAACTCCTCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN12_chr19_38725192_38749474	38743476	C C	CCAGCCCC others(101): Show CCAGCCCCTCCTCCCTCAGACCCCGGAGTCCAGGTCCCCAGCCCCCTCTT CCCTCAGACCCAGGTGTCCAGGCCTTGGCCTCTCCTCCCTCAGATCCAGA AGTCCAGGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0309 a0001c0001t0005g0309	1	342	0.0029	108	c.238 others(123): Show c.238-375_238-374insACCTGGACTTCTGGATCTGAGGGAGGAGAG GCCAAGGCCTGGACACCTGGGTCTGAGGGAAGAGGGGGCTGGGGACCTGG ACTCCGGGGTCTGAGGGAGGAGGGGCTG	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	1/20			chr19	TogoVar
CAPN13_chr2_30717771_30812446	30796223	T T	TGTATATA others(101): Show TGTATATATATGTGTGTATATATATATACACATATATATGTATATATATG TGTGTATATATATATACACACATATATATGTATATATATATGTGTGCATA TATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0227 a0001c0001t0007g0228 a0001c0001t0007g0227 a0001c0001t0007g0228	2	384	0.0052	108	c.-32 others(125): Show c.-32-8867_-32-8866insGTATATATATATGCACACATATATATAT ACATATATATGTGTGTATATATATATACACACATATATATACATATATAT GTGTATATATATATACACACATATATATAC	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(101): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGG GTCCCGACG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(154): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0013 a0014 a0018 a0022 a0024	a0001c0001 a0001c0002 a0001c0003 others(33): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0001c0021 a0001c0046 a0001c0055 a0001c0057 a0001c0060 a0001c0070 a0001c0072 a0001c0073 a0001c0074 a0002c0010 a0002c0011 a0002c0031 a0003c0012 a0003c0048 a0004c0018 a0005c0015 a0005c0016 a0006c0023 a0009c0024 a0010c0080 a0011c0027 a0013c0029 a0014c0041 a0018c0058 a0022c0056 a0024c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0011 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0015 a0001c0004t0001 a0001c0004t0003 a0001c0004t0013 a0001c0005t0001 a0001c0005t0002 a0001c0005t0033 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0007t0002 a0001c0007t0009 a0001c0008t0001 a0001c0008t0035 a0001c0009t0002 a0001c0013t0003 a0001c0021t0001 a0001c0021t0002 a0001c0046t0037 a0001c0055t0002 a0001c0057t0002 a0001c0060t0002 a0001c0070t0002 a0001c0072t0004 a0001c0073t0002 a0001c0074t0001 a0002c0010t0001 a0002c0011t0006 a0002c0011t0017 a0002c0031t0021 a0003c0012t0001 a0003c0012t0002 a0003c0048t0001 a0004c0018t0001 a0005c0015t0001 a0005c0015t0002 a0005c0016t0001 a0005c0016t0002 a0006c0023t0001 a0009c0024t0001 a0009c0024t0002 a0010c0080t0001 a0011c0027t0024 a0013c0029t0002 a0014c0041t0004 a0018c0058t0002 a0022c0056t0002 a0024c0030t0002	a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0129 others(150): Show a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0394 a0001c0001t0002g0005 a0001c0001t0002g0135 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0002g0222 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0005g0263 a0001c0001t0013g0183 a0001c0001t0015g0158 a0001c0001t0022g0184 a0001c0001t0029g0136 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0002g0044 a0001c0002t0002g0047 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0069 a0001c0002t0002g0076 a0001c0002t0002g0126 a0001c0002t0002g0151 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0177 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0009g0247 a0001c0002t0009g0398 a0001c0002t0011g0237 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0218 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0056 a0001c0003t0002g0130 a0001c0003t0002g0156 a0001c0003t0003g0003 a0001c0003t0008g0124 a0001c0003t0008g0125 a0001c0003t0008g0152 a0001c0003t0015g0153 a0001c0004t0001g0018 a0001c0004t0001g0186 a0001c0004t0001g0393 a0001c0004t0003g0042 a0001c0004t0013g0163 a0001c0005t0001g0011 a0001c0005t0002g0012 a0001c0005t0002g0048 a0001c0005t0002g0175 a0001c0005t0002g0179 a0001c0005t0033g0252 a0001c0006t0001g0043 a0001c0006t0001g0193 a0001c0006t0001g0221 a0001c0006t0002g0251 a0001c0006t0003g0006 a0001c0006t0003g0270 a0001c0007t0001g0133 a0001c0007t0001g0194 a0001c0007t0002g0046 a0001c0007t0002g0127 a0001c0007t0009g0244 a0001c0008t0001g0002 a0001c0008t0001g0013 a0001c0008t0001g0138 a0001c0008t0001g0162 a0001c0008t0001g0181 a0001c0008t0001g0227 a0001c0008t0001g0258 a0001c0008t0001g0265 a0001c0008t0035g0149 a0001c0009t0002g0128 a0001c0009t0002g0180 a0001c0009t0002g0196 a0001c0013t0003g0080 a0001c0013t0003g0233 a0001c0021t0001g0168 a0001c0021t0002g0224 a0001c0046t0037g0268 a0001c0055t0002g0176 a0001c0057t0002g0228 a0001c0060t0002g0045 a0001c0070t0002g0188 a0001c0072t0004g0395 a0001c0073t0002g0182 a0001c0074t0001g0016 a0002c0010t0001g0338 a0002c0011t0006g0139 a0002c0011t0006g0201 a0002c0011t0017g0200 a0002c0031t0021g0280 a0003c0012t0001g0261 a0003c0012t0002g0061 a0003c0012t0002g0260 a0003c0048t0001g0226 a0004c0018t0001g0274 a0005c0015t0001g0019 a0005c0015t0002g0155 a0005c0016t0001g0202 a0005c0016t0002g0223 a0006c0023t0001g0197 a0009c0024t0001g0386 a0009c0024t0002g0359 a0010c0080t0001g0161 a0011c0027t0024g0273 a0013c0029t0002g0198 a0014c0041t0004g0385 a0018c0058t0002g0053 a0022c0056t0002g0243 a0024c0030t0002g0055	157	410	0.3829	108	c.-13 others(125): Show c.-137+233_-137+234insGGGGCCGTGGTCCTGTCGTGGGAGGCGA CGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAG GCGACGGTGAGGGCGGCCCGGGGTCCCGAC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(101): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGACGGGGCCGTGTTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGG GTCCCGACG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03579.hp1 HG02129.hp1 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0019 a0001c0005 a0004c0019	a0001c0005t0002 a0004c0019t0003 a0001c0005t0002 a0004c0019t0003	a0001c0005t0002g0368 a0004c0019t0003g0275 a0001c0005t0002g0368 a0004c0019t0003g0275	2	410	0.0049	108	c.-13 others(125): Show c.-137+233_-137+234insGGGGCCGTGTTCCTGTCGTGGGAGGCGA CGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAG GCGACGGTGAGGGCGGCCCGGGGTCCCGAC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(101): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGGCGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGG GTCCCGACG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp2 HG00738.hp1 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0011 a0001c0003t0001 a0001c0003t0011	a0001c0003t0001g0083 a0001c0003t0011g0219 a0001c0003t0001g0083 a0001c0003t0011g0219	2	410	0.0049	108	c.-13 others(125): Show c.-137+231_-137+232insGCGGGGCCGTGGTCCTGTCGTGGGAGGC GACGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGG AGGCGACGGTGAGGGCGGCCCGGGGTCCCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(101): Show TGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGGCGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCTGGG GTCCCGACG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp2 HG01515.hp1 others(3): Show HG00735.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG02148.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 others(3): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0002t0001g0086 a0001c0009t0001g0087 a0001c0009t0001g0088	6	410	0.0146	108	c.-13 others(125): Show c.-137+231_-137+232insGCGGGGCCGTGGTCCTGTCGTGGGAGGC GACGGTGAGGGCGGCCTGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGG AGGCGACGGTGAGGGCGGCCCGGGGTCCCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	534178	T T	TGGGCCGT others(101): Show TGGGCCGTGTTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCC CGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGG GTCCCGACG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0384	1	410	0.0024	108	c.-13 others(125): Show c.-137+188_-137+189insTTCCTGTCGTGGGAGGCGACGGTGAGGG CGGCCCGGGGTCCCGACGGGGCCGTGGTCCTGTCGTGGGAGGCGACGGTG AGGGCGGCCCGGGGTCCCGACGGGGCCGTG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	534187	G G	GTCCTGTC others(101): Show GTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACGGGGC CGTGTTCCTGTCGTGGGAGGCGACGGTGAGGGCGGCCCGGGGTCCCGACG GGGCCGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	410	0.0024	108	c.-13 others(125): Show c.-137+233_-137+234insGGGGCCGTGTTCCTGTCGTGGGAGGCGA CGGTGAGGGCGGCCCGGGGTCCCGACGGGGCCGTGTTCCTGTCGTGGGAG GCGACGGTGAGGGCGGCCCGGGGTCCCGAC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(101): Show CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0136 a0001c0001t0029g0136	1	410	0.0024	108	c.-22 others(125): Show c.-22-1958_-22-1957insTCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(101): Show CCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19005.hp1 NA18999.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0222 a0001c0001t0002g0150 a0001c0001t0002g0222	2	410	0.0049	108	c.-22 others(125): Show c.-22-1972_-22-1971insTCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGTCTCCCCCACGTCGCCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544839	C C	CCTCCCCC others(101): Show CCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0102 a0003c0014t0002g0102	1	410	0.0024	108	c.-22 others(125): Show c.-22-1958_-22-1957insTCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGTCTCCCCCACGTCGCCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25459269	T T	TCTTTCTT others(101): Show TCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	186	0.0054	108	c.615 others(125): Show c.615-6604_615-6603insCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36			chr6	TogoVar
CAVIN1_chr17_42397449_42428256	42424986	A A	AGAGCGTG others(101): Show AGAGCGTGGGGTCCTCCATGGCTACCCGGAGCCGTGCGGGACCGGCCGGG TGGGGCTGGAGCTGGAGCGGGAGACCCGGAGAGAAGCAGGAGCGGAAGGG AGGAGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	338	0.0030	108	c.-18 others(119): Show c.-1890_-1889insAGCTCTCCTCCCTTCCGCTCCTGCTTCTCTCCGG GTCTCCCGCTCCAGCTCCAGCCCCACCCGGCCGGTCCCGCACGGCTCCGG GTAGCCATGGAGGACCCCACGCTC	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding		1731		chr17	TogoVar
CBFA2T3_chr16_88869858_88982207	88929658	G G	GTGGTCCA others(101): Show GTGGTCCACGCAAAAACTACCAATACCCACAGCTGCGTGGTCCACGCAAA AGCTACCAATACCCACAGCTGCATGGTCCACGCAAAAGCTACCAATACCC ACAGCTGCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp2 HG02970.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0014 a0001c0001t0001 a0001c0008t0014	a0001c0001t0001g0103 a0001c0008t0014g0167 a0001c0001t0001g0103 a0001c0008t0014g0167	2	284	0.0070	108	c.152 others(127): Show c.152-28003_152-28002insTGCAGCTGTGGGTATTGGTAGCTTTT GCGTGGACCATGCAGCTGTGGGTATTGGTAGCTTTTGCGTGGACCACGCA GCTGTGGGTATTGGTAGTTTTTGCGTGGACCA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88967162	A A	ACCCCCCA others(101): Show ACCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGACACGAGGCAGCGCCAT GCCACCCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGACACGAGGCAGCG CCATGCCAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	284	0.0035	108	c.151 others(125): Show c.151+9494_151+9495insGTGGCATGGCGCTGCCTCGTGTCGGGGC CGAGTGGCACCTCGGGGGCTGGGGGGGTGGCATGGCGCTGCCTCGTGTCG GGGCCGAGTGGCACCTCGGGGGCTGGGGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC171_chr9_15548043_15979037	15882992	G G	GCCTGCCT others(101): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18965.hp2 NA19091.hp2 NA18952.hp1 NA18965.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0224 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0224	3	266	0.0113	108	c.360 others(127): Show c.3600+8332_3600+8333insGCCTGCCTGCCTGCCTGCCTGCCTGC CTGCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC38_chr12_95862048_95947614	95908443	A A	AAGAGGGA others(101): Show AAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	350	0.0029	108	c.305 others(125): Show c.305-2100_305-1993dupCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC7_chr10_32441140_32887864	32461705	G G	GTATATAT others(101): Show GTATATATATATATATATATGTGTATATATATATATATATATATGTGTAT ATATATATATATATATATGTGTATATATATATATATGTGTATATATATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0234 a0005c0006t0001g0234	1	368	0.0027	108	c.457 others(123): Show c.457-977_457-976insATATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATGTGTATATATATAT ATATGTGTATATATATATATATATATAT	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC92B_chr17_2715801_2754652	2719823	A A	AAGAGATG others(101): Show AAGAGATGGGTCCTTCCTTCAGGAGGGTTGCAAGCAAAGCCATTTTTTGC AAGCAAAGCCAGAAGGAAGAGATGGGTCCTTCCATCTGGGTCCTTCCTTA GGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0351 a0001c0001t0003g0351	1	418	0.0024	108	c.45 others(119): Show c.4587_*4588insCCTTCCTCCTAAGGAAGGACCCAGATGGAAGGAC CCATCTCTTCCTTCTGGCTTTGCTTGCAAAAAATGGCTTTGCTTGCAACC CTCCTGAAGGAAGGACCCATCTCT	CCDC92B	ENSG00000277200.2	transcript	ENST00000614400.2	protein_coding		977		chr17	TogoVar
CCKAR_chr4_26476396_26495484	26493008	A A	AGGAGGAG others(101): Show AGGAGGAGGAAAAGAGAGAGATCATAGAGAGATAGTATAATACTATCTCT CTATGATCTCTCAACAACAACAACGGAGGAGGAGGAAAAGAGAGAGATCA TAGAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0039 a0001c0002t0003g0039	1	454	0.0022	108	c.-27 others(119): Show c.-2742_-2741insATCTCTCTATGATCTCTCTCTTTTCCTCCTCCTC CGTTGTTGTTGTTGAGAGATCATAGAGAGATAGTATTATACTATCTCTCT ATGATCTCTCTCTTTTCCTCCTCC	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		2525		chr4	TogoVar

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Search Results (Total: 10000 hits)