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
ARHGEF38_chr4_105547620_105685914	105561474	A A	AGAATGGA others(98): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATGGAATGGAAT GGAATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0003 a0006c0011t0002g0004 a0006c0011t0002g0003 a0006c0011t0002g0004	2	186	0.0108	105	c.196 others(122): Show c.196+8517_196+8518insGGAATGGAATGGAATGGAATGGAATGGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATGGAATGGAATGGAATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARL13B_chr3_93975155_94060678	94043554	C C	CCCCCTCC others(98): Show CCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCT CCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02083.hp2 HG00423.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0167 a0001c0001t0001g0068 a0001c0001t0001g0167	2	264	0.0076	105	c.102 others(122): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARVCF_chr22_19964896_20021823	20020180	A A	AAGAAAAA others(98): Show AAGAAAAAAAAAAAAAAAAAGGGGGGGAAGAAAAAAAAAAGAAAAAAAAA AAGAAAAAAAAAAGAAGAAAAAGAAAAAAATAAAAAAAAAATAAAAAAGG GGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0006 a0003c0017t0006	a0003c0017t0006g0243 a0003c0017t0006g0243	1	374	0.0027	105	c.-36 others(116): Show c.-3665_-3664insCCCCCCCCTTTTTTATTTTTTTTTTATTTTTTTC TTTTTCTTCTTTTTTTTTTCTTTTTTTTTTTCTTTTTTTTTTCTTCCCCC CCTTTTTTTTTTTTTTTTTCT	ARVCF	ENSG00000099889.14	transcript	ENST00000263207.8	protein_coding		3358		chr22	TogoVar
ASAP1_chr8_130047104_130448674	130049702	T T	TGGGGGGC others(98): Show TGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGC AGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAA TACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	308	0.0033	105	c.50 others(116): Show c.5028_*5029insCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCTCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2401		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049794	A A	AGGAGAAC others(98): Show AGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGG GCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	308	0.0033	105	c.49 others(116): Show c.4936_*4937insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCC TCTGCCCCCCATGTGTTCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2309		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049890	G G	GAGGGCAG others(98): Show GAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAG AGGAGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAAC ACATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	308	0.0033	105	c.48 others(116): Show c.4840_*4841insCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCC TCTGCCCTCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCT CCATGTGTTCCCCTCTGCCCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2213		chr8	TogoVar
ASMTL_chrX_1398139_1457909	1408439	G G	GCAGGAGG others(98): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGC CAAATGCTGGTACTCCCACATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0005 a0001c0042t0001g0005	1	185	0.0054	105	c.164 others(124): Show c.1645+4292_1645+4293insGGCTCAAGCGATCCTCCTGCCTCAGC CTCCCGAGTATGTGGGAGTACCAGCATTTGGCTGGAGTGCAGTGTTGCCA TCATAGTTCACTGCAGCCTTGACCTCCTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408902	C C	CTCCAGCC others(98): Show CTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAG GATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACA CTGCAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0099 a0001c0040t0001g0099	1	185	0.0054	105	c.164 others(124): Show c.1645+3829_1645+3830insCTGCAGTGTTGCCATCATAGTTCACT GCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCGA GTATTTGGGAGTACCAGCATTTGGCTGGA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1409426	A A	ACTCCAGC others(98): Show ACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAAC ACTGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0005 a0001c0042t0001g0005	1	185	0.0054	105	c.164 others(124): Show c.1645+3305_1645+3306insGGCAGTGTTGCCATCATAGTTCACTG CAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAG TATTTGGGAGTACCAGCATTTGGCTGGAG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1409699	C C	CCAGGAGG others(98): Show CCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCGTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0099 a0001c0040t0001g0099	1	185	0.0054	105	c.164 others(124): Show c.1645+3032_1645+3033insCGCTCAAGCGATCCTCCTGCCTCAGC CTCCCGAGTATTTGGGAGTACCAGCATTTGGCTGGACGGCAGTGTTGCCA TCATAGTTCACTGCAGCCTTGACCTCCTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1410224	C C	CCAGGAGG others(98): Show CCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCGTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0099 a0001c0040t0001g0099	1	185	0.0054	105	c.164 others(124): Show c.1645+2507_1645+2508insCGCTCAAGCGATCCTCCTGCCTCAGC CTCCCGAGTATTTGGGAGTACCAGCATTTGGCTGGACGGCAGTGTTGCCA TCATAGTTCACTGCAGCCTTGACCTCCTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1410256	A A	ACAACACT others(98): Show ACAACACTGCAGTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02896.hp2 HG00741.hp1 HG02896.hp2	a0001 a0001	a0001c0011 a0001c0042 a0001c0011 a0001c0042	a0001c0011t0001 a0001c0042t0001 a0001c0011t0001 a0001c0042t0001	a0001c0011t0001g0014 a0001c0042t0001g0005 a0001c0011t0001g0014 a0001c0042t0001g0005	2	185	0.0108	105	c.164 others(124): Show c.1645+2475_1645+2476insCCATCATAGTTCACTGCAGCCTTGAC CTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCGAGTATTTGGGAG TAGCAGCATTTGGCTGGACTGCAGTGTTG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(98): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG03688.hp1 HG02083.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	464	0.0043	105	c.42 others(116): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASTN2_chr9_116418112_117420057	117094106	A A	AGGAGGGA others(98): Show AGGAGGGAGAGAGGGAGGGAGGGAGGGAGAAAGGGAGGAAGGGAGGAAGG AAGGGAGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAGAGGG AAGAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0003 a0002c0004t0006g0003	1	102	0.0098	105	c.127 others(124): Show c.1276+1937_1276+1938insCTTCTTCCCTCTTTCCTTTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCCCTCCCTTCCTTCCTCCCTTCCTCCCTT TCTCCCTCCCTCCCTCCCTCTCTCCCTCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(98): Show ATATATAGTATATATATATATATATATAGTTTATATATATATAGTTTATA TATATAAACTATATATATATAAACTATATATATATATATACTATATATAT ATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0001 a0001c0001t0027g0001	1	304	0.0033	105	c.331 others(124): Show c.3314-1170_3314-1169insATATATATATATATAGTATATATATA TATATAGTTTATATATATATAGTTTATATATATAAACTATATATATATAA ACTATATATATATATATATATACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362759	T T	TTCCTTCT others(98): Show TTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCTTCTCTCTCTT TCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTC TTTCTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0229 a0006c0005t0002g0229	1	284	0.0035	105	c.385 others(120): Show c.385-123_385-122insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAGAAGAAAGAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAGGA	ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29			chr3	TogoVar
ATP8A2_chr13_25366974_26030851	25609539	T T	TCAAATAT others(98): Show TCAAATATATATATATATATTTGGGATTCAAATATATATATATATATTTG GATCCAAATATATATATATATATTTGAATTCAAATATATATATATATATT TGGATC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0119 a0001c0002t0006g0119	1	122	0.0082	105	c.221 others(126): Show c.2211+19863_2211+19864insGATTCAAATATATATATATATATT TGGATCCAAATATATATATATATATTTGAATTCAAATATATATATATATA TTTGGATCCAAATATATATATATATATTTGG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN3_chr14_92053552_92111582	92060270	A A	ATATATAT others(98): Show ATATATATATATATATACACACACATATATATATATATATATATATATAT ATACACACATATATATATATATATATATACACACATATATATATATATAT ATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0054 a0004c0026t0054	a0004c0026t0054g0017 a0004c0026t0054g0017	1	402	0.0025	105	c.40 others(116): Show c.4049_*4050insAAAAATATATATATATATATATGTGTGTATATAT ATATATATATATATGTGTGTATATATATATATATATATATATATATATGT GTGTGTATATATATATATATA	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	11/11	4049		chr14	TogoVar
B4GALNT3_chr12_454939_568509	511939	T T	TCCACCTT others(98): Show TCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCACCTTCTTC CACCTTCGAGCTTCCACCTTCCGCCTTCTGCCTTCCACCTTCCACCTTCC TTCCAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18984.hp2 NA18612.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0351 a0001c0001t0003g0350 a0001c0001t0001g0351 a0001c0001t0003g0350	2	394	0.0051	105	c.170 others(124): Show c.170-23226_170-23225insCACCTTCGACCTTCTTCCACCTTCGA CCTTCCACCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTC TGCCTTCCACCTTCCACCTTCCTTCCACC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374842	G G	GAGGGAGG others(98): Show GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0131 a0005c0009t0001g0131	1	184	0.0054	105	c.784 others(120): Show c.784-612_784-611insAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(98): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03579.hp2 HG02723.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0051 a0002c0002t0001g0053	2	184	0.0109	105	c.784 others(120): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(98): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	184	0.0054	105	c.784 others(120): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCAP29_chr7_107575246_107625478	107599227	T T	TTATATAT others(98): Show TTATATATATTTATATATAAATATATATAATTTTTATATATATATTTATA TATAAATATATATAATTTATATATATATATTTATATATAAATATATATAA TTTTTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	398	0.0025	105	c.481 others(122): Show c.481-1116_481-1115insATATATATAATTTATATATATATATTTA TATATAAATATATATAATTTTTATATATATATTTATATATAAATATATAT AATTTTTATATATATATTTATATATAA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599227	T T	TTATATAT others(98): Show TTATATATATTTATATATAAATATATATAATTTTTATATATATATTTATA TATAAATATATATAATTTTTATATATATATTTATATATAAATATATATAA TTTTTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 HG02027.hp2 others(38): Show HG00423.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02922.hp2 HG02965.hp1 HG03225.hp1 HG03453.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18522.hp2 NA18612.hp1 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18965.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp1 NA19001.hp1 NA19006.hp1 NA19054.hp1 NA19055.hp2 NA19067.hp2 NA19072.hp1 NA19082.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(34): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0248 a0001c0001t0003g0202 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0354	41	398	0.1030	105	c.481 others(122): Show c.481-1116_481-1115insATATATATAATTTTTATATATATATTTA TATATAAATATATATAATTTTTATATATATATTTATATATAAATATATAT AATTTTTATATATATATTTATATATAA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107599260	T T	TTATATAT others(98): Show TTATATATATATTTATATATAAATATATATAATTTTTATATATATATTTA TATATAAATATATATAATTTTTATATATATATTTATATATAAATATATAT AATTTA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18989.hp1 NA19091.hp1 NA18963.hp1 NA18989.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0094	3	398	0.0075	105	c.481 others(122): Show c.481-1116_481-1115insATATATATAATTTTTATATATATATTTA TATATAAATATATATAATTTTTATATATATATTTATATATAAATATATAT AATTTATATATATATATTTATATATAA	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	61045884	T T	TATATAAA others(98): Show TATATAAATATATATTTATATATATTATATATATATATTATATATATAAA TATATATATTATATATATATTATATATATATAATATATATATTTATATAT ATATAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0048 a0002c0003t0002g0048	1	74	0.0135	105	c.202 others(124): Show c.2029+4992_2029+4993insATATAAATATATATTTATATATATTA TATATATATATTATATATATAAATATATATATTATATATATATTATATAT ATATAATATATATATTTATATATATATAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23			chr17	TogoVar
BCL11A_chr2_60452194_60558654	60467159	G G	GTGGTGGT others(98): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTGGT GGTAGTGGTGGTGTTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	262	0.0038	105	c.487 others(122): Show c.487+1572_487+1573insGTACCACCACCATCACCACCACCACCAC CACCATCACCACCAACACCACCACTACCACCACCATCATCACCACCATCA CCACCACCACCACCACCATCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467531	A A	ATGGTGGT others(98): Show ATGGTGGTGGTGGTGGTGATGGTGGTGATGGTACTGGTGGTGATGGTACT GGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGC TACTGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0138 a0001c0001t0042g0138	1	262	0.0038	105	c.487 others(122): Show c.487+1200_487+1201insCCAGTAGCATCACCACCACCACCACCAT CACCATCACCACCACCACCATCACCACCAGTACCATCACCACCAGTACCA TCACCACCATCACCACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BDH1_chr3_197504783_197560968	197517779	C C	CATCAGTC others(98): Show CATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCTTCAGGCCGACCCC CCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCAACC CCCCCG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0026 a0001c0001t0079g0026	1	319	0.0031	105	c.410 others(122): Show c.410-3364_410-3363insCGGGGGGGTTGGCCTGAGGGGGGATGGA GACCATAGAGCAGGAAGTGACTGATGGGGGGGTCGGCCTGAAGGGGGATG GAGACCATAGAGCAGGAAGTGACTGAT	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197518953	C C	CTCAGTCA others(98): Show CTCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCGACCCCC CAATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCGCTCAGGCCGACC CCCCCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01255.hp1 others(5): Show HG00735.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG03942.hp2 HG04115.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0099 a0001c0001t0100 others(4): Show a0001c0001t0019 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105	a0001c0001t0019g0189 a0001c0001t0019g0190 a0001c0001t0099g0188 others(5): Show a0001c0001t0019g0189 a0001c0001t0019g0190 a0001c0001t0099g0188 a0001c0001t0100g0216 a0001c0001t0101g0173 a0001c0001t0102g0187 a0001c0001t0104g0295 a0001c0001t0105g0055	8	319	0.0251	105	c.409 others(122): Show c.409+3686_409+3687insTGGGGGGGTCGGCCTGAGCGGGGGATGG AGACCATAGAGCAGGAAGTGACTGATTGGGGGGTCGGCCTGAGGGGGGAT GGAGACCATAGAGCAGGAAGTGACTGA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96216768	A A	AGGAGGAG others(98): Show AGGAGGAGGAGGAGGAAGGAGGAGGAGGAAGGAGGAGGAAGGAGGAGGAG GAGGAAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGA GGAAGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp1 others(4): Show HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01981.hp2 HG02559.hp2 HG03225.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 others(2): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0022 a0001c0007t0011	a0001c0001t0011g0050 a0001c0001t0012g0006 a0001c0001t0014g0094 others(3): Show a0001c0001t0011g0050 a0001c0001t0012g0006 a0001c0001t0014g0094 a0001c0001t0014g0329 a0001c0001t0022g0014 a0001c0007t0011g0340	7	436	0.0161	105	c.-40 others(124): Show c.-40+11809_-40+11810insGGAGGAGGAGGAGGAAGGAGGAGGAG GAAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAAGGAGGAGG AGGAGGAAGGAGGAGGAGGAGGAGGAAGG	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2			chr14	TogoVar
BOP1_chr8_144257045_144296438	144277789	A A	AGGGCAGG others(98): Show AGGGCAGGGGCGGTGCGGGCAGGGGCGGTGCAGGCAGGGGCGGTGCGGGC AGGGGCGGTGCAGGCAGGGGCGGTGCGGGCAGGGGCGGTGCGGGCAGGGG CGGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0040 a0001c0010t0001g0040	1	398	0.0025	105	c.310 others(122): Show c.310-1486_310-1485insGCACCGCCCCTGCCCGCACCGCCCCTGC CCGCACCGCCCCTGCCTGCACCGCCCCTGCCCGCACCGCCCCTGCCTGCA CCGCCCCTGCCCGCACCGCCCCTGCCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144277790	G G	GGGCAGGG others(98): Show GGGCAGGGGCGGTGCGGGCAGGGGCGGTGCAGGCAGGGGCGGTGCGGGCA GGGGCGGTGCGGGCAGGGGCGGTGCGGGCAGGGGCGGTGCGGGCAGGGGC GGTGCA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	398	0.0025	105	c.310 others(122): Show c.310-1487_310-1486insTGCACCGCCCCTGCCCGCACCGCCCCTG CCCGCACCGCCCCTGCCCGCACCGCCCCTGCCCGCACCGCCCCTGCCTGC ACCGCCCCTGCCCGCACCGCCCCTGCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BRD1_chr22_49768283_49832873	49775869	G G	GCCCCCCC others(98): Show GCCCCCCCTCGCCGAACCATCCCTGCCCCTTCCAGCTGTGTGAACCTCCT CCGACCAACCCCGCCCCCCCGCCAGCTGTGTGAGCCTCCTCAGACCACCC CCACGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	258	0.0039	105	c.323 others(122): Show c.3232-125_3232-124insGCGTGGGGGTGGTCTGAGGAGGCTCACA CAGCTGGCGGGGGGGCGGGGTTGGTCGGAGGAGGTTCACACAGCTGGAAG GGGCAGGGATGGTTCGGCGAGGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BRF1_chr14_105204286_105306001	105235929	A A	AGGCCACA others(98): Show AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGCGGGGGGACAGCC TGGCAGCCCCGTGGCACACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	72	0.0139	105	c.694 others(122): Show c.694+5335_694+5336insCTCTCTCTCCTGAGATGCTAGGTTGTTG CTCCTGAGGGTGTGCCACGGGGCTGCCAGGCTGTCCCCCCGCCCCAGCTG GGCGACTACGCGGACAGTGGTGTGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105280889	A A	AGGTGTGC others(98): Show AGGTGTGCGGATACAGCCTGCGTGACCCTGAGCCCAGGTGTGCGGATACA GCCTGCGTGACCCTGAGCCCAGGTGTGTGGACAGAGCCTGCGTGATCCTG AGCCCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG01123.hp1 others(7): Show HG00323.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01928.hp1 HG02258.hp2 HG02280.hp1 HG03516.hp1 HG03834.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(7): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0057 a0001c0001t0007g0071	10	72	0.1389	105	c.265 others(122): Show c.265+5406_265+5407insCGGGCTCAGGATCACGCAGGCTCTGTCC ACACACCTGGGCTCAGGGTCACGCAGGCTGTATCCGCACACCTGGGCTCA GGGTCACGCAGGCTGTATCCGCACACC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
C11orf71_chr11_114393532_114405511	114394227	T T	TCTTTCCT others(98): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	422	0.0024	105	c.57 others(116): Show c.5732_*5733insGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAG	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4304		chr11	TogoVar
C22orf42_chr22_32144006_32164303	32145686	A A	ATATAATG others(98): Show ATATAATGATATATAATTTATTATATAATGATATATAATTTATTATATAA TGATATATAATTTATTATATAATGATATATAATTTATTATATAATGATAT ATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03017.hp1 HG04204.hp2 others(2): Show HG02976.hp2 HG03017.hp1 HG04204.hp2 NA18522.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0011 a0002c0002t0002g0085 others(1): Show a0002c0002t0002g0004 a0002c0002t0002g0011 a0002c0002t0002g0085 a0002c0002t0002g0090	5	398	0.0126	105	c.38 others(116): Show c.3853_*3854insAATTATATATCATTATATAATAAATTATATATCA TTATATAATAAATTATATATCATTATATAATAAATTATATATCATTATAT AATAAATTATATATCATTATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3319		chr22	TogoVar
CABLES2_chr20_62383634_62412285	62398014	C C	CGGTGGTG others(98): Show CGGTGGTGGTGATGGTTATGACGGTGGTGATGGTGGTGGTGGTGGTGACG GTGATGGTGGTAATGGTGGTGGTGGTGACGGTGGTGGTGATGGTGGTGAC GGTAGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG03540.hp1 others(1): Show HG02818.hp2 HG02976.hp2 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0047 a0001c0001t0006g0181 a0001c0001t0017g0182 a0001c0001t0006g0047 a0001c0001t0006g0181 a0001c0001t0017g0182	4	400	0.0100	105	c.363 others(122): Show c.363-1423_363-1422insACTACCGTCACCACCATCACCACCACCG TCACCACCACCACCATTACCACCATCACCGTCACCACCACCACCACCATC ACCACCGTCATAACCATCACCACCACC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1185343	T T	TCCTTTGT others(98): Show TCCTTTGTCCCTGGTGTAGGCAGGGATTGGCGTTCATAGCCTCACCCACC GGTTATCCGGAGCTTAGACGTGCCCGGGTGGCAGCTGGACTCCTGGACGG TGTCTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0064 a0064	a0064c0111 a0064c0111	a0064c0111t0031 a0064c0111t0031	a0064c0111t0031g0256 a0064c0111t0031g0256	1	338	0.0030	105	c.300 others(122): Show c.300-9606_300-9605insGATTGGCGTTCATAGCCTCACCCACCGG TTATCCGGAGCTTAGACGTGCCCGGGTGGCAGCTGGACTCCTGGACGGTG TCTGCCTTTGTCCCTGGTGTAGGCAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(98): Show GGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0038 a0038	a0038c0101 a0038c0101	a0038c0101t0008 a0038c0101t0008	a0038c0101t0008g0261 a0038c0101t0008g0261	1	338	0.0030	105	c.300 others(122): Show c.300-9363_300-9362insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(98): Show GGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCA TGCATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG02559.hp2 HG02717.hp2	a0002 a0065 a0002 a0065	a0002c0039 a0065c0042 a0002c0039 a0065c0042	a0002c0039t0003 a0065c0042t0003 a0002c0039t0003 a0065c0042t0003	a0002c0039t0003g0229 a0065c0042t0003g0230 a0002c0039t0003g0229 a0065c0042t0003g0230	2	338	0.0059	105	c.300 others(122): Show c.300-9363_300-9362insCCGGGGGCGGGGTGTGTACGGGGCGGGT GAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D1_chr7_81941444_82448777	82060211	A A	ATTATATA others(98): Show ATTATATATATATAATATATATATAATATATATATAATATATATATATTA TATATATATTATATATATATAATATATATATAATATATATATATTATATA TATATT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	144	0.0069	105	c.879 others(120): Show c.879+216_879+217insAATATATATATAATATATATATATTATATA TATATTATATATATATAATATATATATAATATATATATATTATATATATA TTATATATATATTATATATATATAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNB4_chr2_151827771_152104044	152074603	T T	TCTCCACC others(98): Show TCTCCACCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCA TCACCCCCTCACCATTACCACCTCCACCATCACCATCACCCCCTCACCAT TACCAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0199 a0001c0005t0019g0199	1	230	0.0044	105	c.147 others(124): Show c.147+23726_147+23727insGTGGTAATGGTGAGGGGGTGATGGTG ATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTA ATGGTGAGGGGGTGATGGTGATGGTGGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152074603	T T	TCTCCACC others(98): Show TCTCCACCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCA TCACCCCCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCAT TACCAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00609.hp2 others(75): Show HG00280.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03130.hp1 HG03491.hp1 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18960.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 a0001c0002t0028 a0001c0002t0034 a0001c0002t0040 a0001c0002t0041 a0001c0003t0007 a0001c0003t0008	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(75): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0004g0095 a0001c0001t0004g0107 a0001c0001t0004g0125 a0001c0001t0004g0134 a0001c0001t0004g0153 a0001c0001t0004g0164 a0001c0001t0004g0177 a0001c0001t0004g0189 a0001c0001t0004g0192 a0001c0001t0004g0211 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0007g0111 a0001c0001t0007g0197 a0001c0001t0007g0206 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0010g0109 a0001c0001t0010g0114 a0001c0001t0010g0115 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0230 a0001c0001t0012g0212 a0001c0001t0013g0106 a0001c0001t0013g0148 a0001c0001t0013g0191 a0001c0001t0013g0228 a0001c0001t0014g0094 a0001c0001t0014g0116 a0001c0001t0021g0150 a0001c0001t0022g0179 a0001c0001t0025g0204 a0001c0001t0029g0208 a0001c0001t0032g0102 a0001c0001t0033g0135 a0001c0002t0002g0162 a0001c0002t0002g0180 a0001c0002t0003g0093 a0001c0002t0003g0096 a0001c0002t0003g0112 a0001c0002t0003g0119 a0001c0002t0003g0124 a0001c0002t0003g0127 a0001c0002t0003g0152 a0001c0002t0003g0155 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0175 a0001c0002t0003g0178 a0001c0002t0003g0183 a0001c0002t0023g0176 a0001c0002t0028g0003 a0001c0002t0034g0045 a0001c0002t0040g0166 a0001c0002t0041g0172 a0001c0003t0007g0098 a0001c0003t0008g0099 a0001c0003t0008g0151 a0001c0003t0008g0171 a0001c0003t0008g0219	78	230	0.3391	105	c.147 others(124): Show c.147+23726_147+23727insGTGGTAATGGTGAGGGGGTGATGGTG ATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTA ATGGTGAGGGGGTGATGGTGATGGTGGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG8_chr19_53957937_53995215	53962358	G G	GAGCGGTG others(98): Show GAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGA CTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTCATCTTATTTATTA ATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0005 a0001c0001t0086g0005	1	394	0.0025	105	c.-78 others(114): Show c.-785_-784insAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGG GATGGTGGGACGACTTTCTTGGGCAGAAGACAGGAGTGGAGAGAGATTTC ATCTTATTTATTAATTATT	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		578		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53962427	G G	GGAGTGGA others(98): Show GGAGTGGAGAGAGATTTCATCTTATTTATTAATTATTAGCGGTGGTGGGG ACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGACTTTCTTGGGCAGA AGACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0017 a0001c0001t0083g0017	1	394	0.0025	105	c.-71 others(114): Show c.-716_-715insGAGTGGAGAGAGATTTCATCTTATTTATTAATTATT AGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTGGGACGAC TTTCTTGGGCAGAAGACAA	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		509		chr19	TogoVar
CADM2_chr3_84953989_86079429	85212812	C C	CTCTTTCT others(98): Show CTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0041 a0001c0001t0044g0041	1	146	0.0069	105	c.61+ others(124): Show c.61+253158_61+253159insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTTCTTTCTTTCTTTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12520921	A A	AAGAGGGA others(98): Show AAGAGGGAGAGGGAGAGGGAGAGGAGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAGGGAGAGGGAGAG GGAGAG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	214	0.0047	105	c.93- others(122): Show c.93-32304_93-32303insAGAGGGAGAGGGAGAGGGAGAGGAGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG AGAGGAGAGGGAGAGGGAGAGGGAGAG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10			chr10	TogoVar
CAPN12_chr19_38725192_38749474	38735883	G G	GGGGCGGG others(98): Show GGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCAGGGCGGGGCGGTGG TTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGG TTCTGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18993.hp1 NA19010.hp2 others(3): Show NA18970.hp2 NA18993.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19084.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0032 a0001c0001 a0012c0032	a0001c0001t0005 a0012c0032t0005 a0001c0001t0005 a0012c0032t0005	a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0005g0287 others(3): Show a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0005g0291 a0012c0032t0005g0302	6	342	0.0175	105	c.158 others(122): Show c.1583+226_1583+227insGCAGAACCACCGCCCCGCCCCGCCCGCA GAACCACCGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCCTGCCCCGC CCCGCCCGCAGAACCACCGCCCCGCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar

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