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
ADCY5_chr3_123277296_123454090	123407765	C C	CAAAAAAA others(303): Show CAAAAAAAAAAAAGTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01074.hp1 others(24): Show HG00609.hp1 HG00609.hp2 HG01074.hp1 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02129.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG03704.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18967.hp2 NA18983.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0021 others(1): Show a0001c0001 a0001c0002 a0001c0021 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0024 a0001c0002t0001 a0001c0021t0030 a0002c0006t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(24): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0001t0001g0214 a0001c0001t0002g0012 a0001c0001t0002g0039 a0001c0001t0002g0058 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0003g0119 a0001c0001t0011g0237 a0001c0001t0015g0184 a0001c0001t0024g0243 a0001c0002t0001g0135 a0001c0002t0001g0222 a0001c0021t0030g0186 a0002c0006t0001g0206 a0002c0006t0001g0221	27	260	0.1039	310	c.113 others(331): Show c.1134+39646_1134+39647insTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAACTTTTTTTTTTTT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
ADCY5_chr3_123277296_123454090	123407765	C C	CAAAAAAA others(303): Show CAAAAAAAAAAAAGTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	260	0.0039	310	c.113 others(331): Show c.1134+39646_1134+39647insTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCAACTTTTTTTTTTTT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
AFF2_chrX_148495617_149005663	148581334	G G	GTATATAC others(303): Show GTATATACGTATACGTGTACACACATATATATACACGTATATATACGTAT ACGTGTACACACACACACGTATATATACGTATACGTGTACACACACACGT ATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTAC ACACACACGTATATATACGTATACGTGTACACACACACGTATATATACGT ATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGT ATATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACAC ACACACACGTA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01258.hp1 HG01192.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0059 a0001c0001t0008g0073 a0001c0001t0008g0059 a0001c0001t0008g0073	2	169	0.0118	310	c.48- others(327): Show c.48-70661_48-70660insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACACGTATATA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581390	A A	ATACGTGT others(303): Show ATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTAT ACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACATATACACGTATACGTCT ACGTGTACACACATATACACGTATACGTCTACGTGTACACACATATACAC GTATACGTCTACGTGTACACACATATACACGTATACGTCTACGTGTACAC ACATATACACG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0047 a0001c0001t0069g0047	1	169	0.0059	310	c.48- others(327): Show c.48-70607_48-70606insCGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGTATACGTCTACGTGTACACACATATACACGTATACGTCTA CGTGTACACACATATACACGTATACGTCTACGTGTACACACATATACACG TATACGTCTACGTGTACACACATATACACGTA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	391340	C C	CGGGCGCA others(303): Show CGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAC GGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACG GGCGCAGGGCGAGGCGGGTGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG ACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGG CGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGC GCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCG CAGGGCGAGGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0009 a0004c0003t0009	a0004c0003t0009g0232 a0004c0003t0009g0232	1	268	0.0037	310	c.351 others(329): Show c.351+14640_351+14641insGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGC GTGCACGGGCGCAGGGCGAGGCGGGTGCAGGGCGAGGCAGGGCCAGAGCG TGCACGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGT GCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTG CACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGC ACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	392288	G G	GGGCGCAG others(303): Show GGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAG GGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGG GCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGC GAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCG AGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGA GGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGC AGGGCGAGGCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0055 a0001c0009t0055	a0001c0009t0055g0104 a0001c0009t0055g0104	1	268	0.0037	310	c.351 others(329): Show c.351+15606_351+15607insACGCAGGGCGAGGAGGGCGCAGGGTG AGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGC AGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCA GGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAG GGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCA GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	392334	G G	GGAGGGCG others(303): Show GGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGC AGGGCGAGGCAGGCGCAGGGCAAGGCAGGGCCAGAGTGTGCACGGGCGCA GGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCACAG GGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGG GCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGG GTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGA CGCAGGGCGAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0238 a0001c0001t0022g0238	1	268	0.0037	310	c.351 others(329): Show c.351+15630_351+15631insTGAGGCAGGGCCAGAGCGTGCACGAA CACACGGGTGCAGGGCGAGGCAGGCGCAGGGCAAGGCAGGGCCAGAGTGT GCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTG CACGGGCACAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGC ACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCA CGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGA GCGTGCACGGACGCAGGGCGATGAGGGCGCAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	392334	G G	GGAGGGCG others(303): Show GGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGC AGGGCGAGGCAGGCGCAGGGCAAGGCAGGGCCAGAGTGTGCACGGGCGCA GGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAG GGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGG GCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGG GTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGA CGCAGGGCGAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG03139.hp1 others(2): Show HG01099.hp2 HG01891.hp1 HG03139.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 a0001c0001t0050	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 others(2): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0006g0262 a0001c0001t0027g0153 a0001c0001t0050g0155	5	268	0.0187	310	c.351 others(329): Show c.351+15630_351+15631insTGAGGCAGGGCCAGAGCGTGCACGAA CACACGGGTGCAGGGCGAGGCAGGCGCAGGGCAAGGCAGGGCCAGAGTGT GCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTG CACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGC ACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCA CGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCCAGA GCGTGCACGGACGCAGGGCGATGAGGGCGCAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHSA1_chr14_77453093_77474472	77460457	T T	TAAAGAAG others(303): Show TAAAGAAGGGTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0111 a0001c0007t0001g0111	1	308	0.0033	310	c.271 others(325): Show c.271+663_271+664insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAGAAGGGTGC	AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
AHSA1_chr14_77453093_77474472	77460457	T T	TAAAGAAG others(303): Show TAAAGAAGGGTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00642.hp2 others(25): Show HG00099.hp1 HG00323.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02293.hp1 HG02559.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02976.hp1 HG03486.hp1 HG03491.hp2 HG03579.hp2 HG03704.hp1 HG03942.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003	a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0003t0001g0009 others(14): Show a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0003t0001g0009 a0001c0003t0001g0030 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0128 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0003g0006 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0129	28	308	0.0909	310	c.271 others(325): Show c.271+663_271+664insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAGAAGGGTGC	AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP10_chr17_19899302_19982828	19910322	A A	ACTCAAAA others(303): Show ACTCAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCATGGTGGCTCACACC TGTAATCCTAGCACTTTGGGAGGCTGAGGTGGATGGATCACCTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGACGAAACCATGTCTCTACTAAA AATATAAATAATAAAAAAAATTAGCTGGGTAGTAGGCACCTGTAATCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCAGGAGGCGGAG GTTGCAGTAAGTCTAGATCGCACCATTGCACTACAGTCTGGGTGACAGAG CAAGACTCTGT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0249 a0003c0003t0005g0249	1	278	0.0036	310	c.183 others(327): Show c.1835-345_1835-344insACAGAGTCTTGCTCTGTCACCCAGACTG TAGTGCAATGGTGCGATCTAGACTTACTGCAACCTCCGCCTCCTGGGTTC CAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCT ACTACCCAGCTAATTTTTTTTATTATTTATATTTTTAGTAGAGACATGGT TTCGTCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCA TCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCATGC CCGGCCTTTTTTTTTTTTTTTTTTTTTTTGAG	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	12/14			chr17	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(303): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGA GGGGGGGAGGGGGGGAGGGGGGAGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAG GGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	301	0.0033	310	c.125 others(331): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCC TCCTCCTCCTCCCCTCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCTCCCC CTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCC CTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCC CTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTT CCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(303): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAGAGTGGGAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18940.hp1 NA18947.hp1 HG02027.hp2 NA18940.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0005 a0001c0011t0005 a0001c0001t0005 a0001c0011t0005	a0001c0001t0005g0249 a0001c0001t0005g0326 a0001c0011t0005g0284 a0001c0001t0005g0249 a0001c0001t0005g0326 a0001c0011t0005g0284	3	386	0.0078	310	c.186 others(329): Show c.1863+2109_1863+2110insTTCCCACTCTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(303): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCGCTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAGTGGGAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0370 a0001c0002t0021g0370	1	386	0.0026	310	c.186 others(329): Show c.1863+2109_1863+2110insTTCCCACTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(303): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCGCTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAGAGTGGGAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02056.hp2 HG02293.hp1 others(13): Show HG01952.hp2 HG02056.hp2 HG02293.hp1 HG03688.hp2 NA18940.hp2 NA18944.hp2 NA18949.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp2 NA18993.hp1 NA19005.hp2 NA19057.hp1 NA19078.hp1 NA19087.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0004 a0001c0002t0002 a0001c0002t0021 others(1): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0021 a0002c0004t0002	a0001c0001t0004g0081 a0001c0001t0004g0157 a0001c0001t0004g0222 others(13): Show a0001c0001t0004g0081 a0001c0001t0004g0157 a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0242 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0282 a0001c0001t0004g0319 a0001c0001t0004g0383 a0001c0002t0002g0208 a0001c0002t0002g0264 a0001c0002t0002g0270 a0001c0002t0021g0374 a0002c0004t0002g0206	16	386	0.0415	310	c.186 others(329): Show c.1863+2109_1863+2110insTTCCCACTCTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
AMPH_chr7_38378704_38636373	38438564	T T	TCATTATT others(303): Show TCATTATTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02300.hp2 HG02056.hp2 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0005 a0001c0003t0001 a0001c0007t0005	a0001c0003t0001g0284 a0001c0007t0005g0229 a0001c0003t0001g0284 a0001c0007t0005g0229	2	288	0.0069	310	c.101 others(329): Show c.1018-2177_1018-2176insGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAGGAAATAATG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
ANK3_chr10_60021298_60394875	60365086	T T	TAAAAAAT others(303): Show TAAAAAATAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18612.hp2 HG03239.hp1 NA18612.hp2	a0001 a0022 a0001 a0022	a0001c0001 a0022c0081 a0001c0001 a0022c0081	a0001c0001t0005 a0022c0081t0051 a0001c0001t0005 a0022c0081t0051	a0001c0001t0005g0094 a0022c0081t0051g0086 a0001c0001t0005g0094 a0022c0081t0051g0086	2	192	0.0104	310	c.114 others(329): Show c.114+24338_114+24339insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAAAGTGCTGGGAGCATCTATTTTTT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(303): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATATTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATATTTTTATATAAAATATC AGTATTTTATGTATACTATATGTGCTATATGATATACACGTATCATATGC CATGATATACGTATATTATACATCATATATAAAAACATTTTTATATAAAA TATCAGTATTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02809.hp2 HG01106.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0132 a0001c0001t0001g0136	2	350	0.0057	310	c.181 others(327): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAGTATACATAAAATACTGATATTTTATATAAAAA TATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATAC GTGTATATCATATAGCACATATAATATACATAAAATACTGATATTTTATA TAAAAATATGTTTTTATATATGATGTATAATATACGTATATCATGGCATA TGATACGTGTATATCATATAGCACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ARF4_chr3_57566363_57602344	57578465	T T	TCAATTCT others(303): Show TCAATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01257.hp1 HG01358.hp1 others(32): Show HG00544.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01928.hp2 HG02056.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp2 HG02698.hp1 HG02735.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA19005.hp2 NA19007.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0042 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236	35	358	0.0978	310	c.259 others(327): Show c.259-1079_259-1078insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAGAATTG	ARF4	ENSG00000168374.11	transcript	ENST00000303436.11	protein_coding	3/5			chr3	TogoVar
ARHGAP32_chr11_128960060_129197325	129127570	T T	TGAAAGGA others(303): Show TGAAAGGAAAATACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAATAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA19240.hp2 HG03710.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0293 a0001c0002t0001g0223 a0001c0002t0001g0293	2	398	0.0050	310	c.226 others(327): Show c.226-2677_226-2676insTTTTTTTTTTTTTTTTTATTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCAGTATTTTCCTTTC	ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding	2/22			chr11	TogoVar
ARMH3_chr10_101840599_102061173	102000595	C C	CAAAAAAT others(303): Show CAAAAAATACATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp1 HG01109.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0067 a0001c0001t0001g0091	2	262	0.0076	310	c.115 others(329): Show c.1150+1375_1150+1376insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATGTATTTTTT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	15/25			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049484	G G	GGGGAACA others(303): Show GGGGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGAGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGA ACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGG GGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAG GAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACA TGGAGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0263 a0001c0001t0021g0263	1	308	0.0033	310	c.52 others(321): Show c.5246_*5247insTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGT GTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCC TCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCC ATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCC CCTCTGCCCTCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCC CCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTG TTCCCCCTCTGCCCCCATGTGTTCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2619		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049880	G G	GAACACAT others(303): Show GAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATG GGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGG GGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACA TGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGGAACACATGGAGGGC AGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGA ACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGG GGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	308	0.0033	310	c.48 others(321): Show c.4850_*4851insTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCTCC ATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTC CCCTCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCCTCTG CCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCTCCATG TGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCT CTGCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCAT GTGTTCCCCTCTGCCCCCCATGTGTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2223		chr8	TogoVar
ATCAY_chr19_3875685_3933082	3909139	T T	TGGCAGGA others(303): Show TGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAG ATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACTCCATCTCA AAAAAAAAAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	384	0.0026	310	c.648 others(325): Show c.648-336_648-335insCGCTTGAACCCAGGAGGCGGAGGTTGCAGT AAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGTGACAAGAACGAAACT CCATCTCAAAAAAAAAAAAAAAAAAAAACAAGACTAGCCGGGCGCAGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAAT	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATF1_chr12_50759101_50826162	50776326	A A	AAAAAAAT others(303): Show AAAAAAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01243.hp1 others(6): Show HG00099.hp2 HG00639.hp2 HG01243.hp1 HG01257.hp1 HG01517.hp2 HG03516.hp1 HG03688.hp1 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0004 a0001c0001t0001 a0001c0001t0004 a0001c0003t0004	a0001c0001t0001g0337 a0001c0001t0001g0355 a0001c0001t0004g0017 others(5): Show a0001c0001t0001g0337 a0001c0001t0001g0355 a0001c0001t0004g0017 a0001c0001t0004g0351 a0001c0003t0004g0352 a0001c0003t0004g0353 a0001c0003t0004g0354 a0001c0003t0004g0357	9	382	0.0236	310	c.-6- others(325): Show c.-6-3799_-6-3798insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTAAAAAATTTTTTTTT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(303): Show TCCCCACCTCCCCCCACCCCCCCACCTCCCCCACCCCCCCACCCCCCACC TCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCC CCCACCCCCACCCCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCC CCCACCCCCCACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACC TCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0002 a0004c0015t0002	a0004c0015t0002g0052 a0004c0015t0002g0052	1	254	0.0039	310	c.39+ others(327): Show c.39+32844_39+32845insACCCCCCCACCTCCCCCACCCCCCCACC CCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCC CCCACCCCCCACCCCCACCCCCTACCCCCACCCCCTACCCCCCACCCCCC ACCTCCCCCCACCCCCCACCCCTACCCCCCACCCCCCACCTCCCCCCACC CCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(303): Show TTCTGGGTGACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0045 a0001c0044t0045	a0001c0044t0045g0133 a0001c0044t0045g0133	1	254	0.0039	310	c.299 others(329): Show c.2991+4076_2991+4077insTTTTTTTTTTTTTTTTTGAGACGGAG TCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCTGGGTGACTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0A4_chr7_138701294_138803196	138759063	T T	TTTTTTTT others(303): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0035 a0001c0010t0002g0035	1	376	0.0027	310	c.639 others(325): Show c.639+688_639+689insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	8/21			chr7	TogoVar
ATP9B_chr18_79064394_79383283	79323079	A A	ATTTATCG others(303): Show ATTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGT TAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATC GTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAAT CCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTT CGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGT TTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTA GTAATCCTCCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	298	0.0034	310	c.177 others(329): Show c.1774-5892_1774-5891insCGTTAGTAATCCTCCGTTTATCGTTG CTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTC CGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCG TTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTAT CGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAA TCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCT TCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79323079	A A	ATTTATCG others(303): Show ATTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGT TAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATC GTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAAT CCTCCGTTTATCGTTGCTTCGTGTTAGTAATCCTCCGTTTATCGTTGCTT CGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGT TTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTA GTAATCCTCCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(4): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp2 HG01123.hp2 HG01517.hp2 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(4): Show a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0172	7	298	0.0235	310	c.177 others(329): Show c.1774-5878_1774-5877insCGTTTATCGTTGCTTCGCGTTAGTAA TCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCT TCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCG TTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTT AGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATCCTCCGTTTATCG TTGCTTCGCGTTAGTAATCCTCCGTTTATCGTTGCTTCGCGTTAGTAATC CTCCGTTTATCGTTGCTTCGTGTTAGTAATCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79335982	A A	AGCCCTCC others(303): Show AGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCTGT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0290 a0001c0006t0007g0290	1	298	0.0034	310	c.202 others(327): Show c.2029-527_2029-526insTCCGTGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGG CACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCA TGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336102	A A	ACCATGCC others(303): Show ACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCG CCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCG TCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGC TCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCT GGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTC CGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02897.hp2 HG02145.hp2 HG02615.hp2 HG02897.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0004 a0002c0005t0001 a0002c0005t0004	a0002c0005t0001g0179 a0002c0005t0001g0194 a0002c0005t0004g0184 a0002c0005t0001g0179 a0002c0005t0001g0194 a0002c0005t0004g0184	3	298	0.0101	310	c.202 others(327): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCT CGCCCGTCCCCAGCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(303): Show ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0117 a0001c0004t0004g0117	1	298	0.0034	310	c.202 others(327): Show c.2029-504_2029-503insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCT GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336125	C C	CGCTCCCC others(303): Show CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTC CCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACC GCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCC GTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCG CTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCC TGGCACCAGGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18977.hp2 HG01346.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	298	0.0067	310	c.202 others(327): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCT CGCCCGTCCCCAGCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(303): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02293.hp1 NA18943.hp1 others(9): Show HG01975.hp2 HG02293.hp1 NA18943.hp1 NA18945.hp2 NA18960.hp2 NA18980.hp1 NA18984.hp2 NA18992.hp2 NA18994.hp2 NA19009.hp1 NA19010.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0083	12	298	0.0403	310	c.202 others(327): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(303): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCATGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	298	0.0034	310	c.202 others(327): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCATGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(303): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00673.hp2 others(12): Show HG00140.hp1 HG00544.hp1 HG00673.hp2 HG01167.hp2 HG01169.hp1 HG01358.hp2 HG01361.hp1 HG03710.hp2 NA18522.hp2 NA18941.hp2 NA18948.hp2 NA18982.hp1 NA19086.hp2 NA19088.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0015 others(1): Show a0001c0001 a0001c0003 a0001c0015 a0002c0005	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0015t0001 a0002c0005t0001	a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0053 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0015t0001g0130 a0002c0005t0001g0242	15	298	0.0503	310	c.202 others(327): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(303): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	298	0.0034	310	c.202 others(327): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(303): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02300.hp2 HG02109.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0038 a0001c0001 a0001c0038	a0001c0001t0001 a0001c0038t0001 a0001c0001t0001 a0001c0038t0001	a0001c0001t0001g0037 a0001c0038t0001g0265 a0001c0001t0001g0037 a0001c0038t0001g0265	2	298	0.0067	310	c.202 others(327): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(303): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03669.hp2 HG02683.hp2 HG03669.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0014 a0001c0001 a0014c0014	a0001c0001t0022 a0014c0014t0003 a0001c0001t0022 a0014c0014t0003	a0001c0001t0022g0166 a0014c0014t0003g0354 a0001c0001t0022g0166 a0014c0014t0003g0354	2	364	0.0055	310	c.723 others(327): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTT TAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BSN_chr3_49549477_49676549	49606254	A A	ATACATAT others(303): Show ATACATATATTATATATGTATATATATTATATATACATATATTATATATG TATATATTATATATACATATATTATATATGTATATATTATATATACATAT ATTATATATGTATATATTATATATACATATATTATATATGTATTATATAT ACATATATTATATATGTATATATTATATATAAAATATATATAATATATAT TAAAAATATATATTATATATATTAAAAATATATATAATATATATTAAAAA TATATATTATATATATTAAAATATATATATAATATATATTAAAAATATAT ATTATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0004 a0003c0033t0004	a0003c0033t0004g0025 a0003c0033t0004g0025	1	186	0.0054	310	c.225 others(329): Show c.225-18719_225-18718insCATATATTATATATGTATATATATTA TATATACATATATTATATATGTATATATTATATATACATATATTATATAT GTATATATTATATATACATATATTATATATGTATATATTATATATACATA TATTATATATGTATTATATATACATATATTATATATGTATATATTATATA TAAAATATATATAATATATATTAAAAATATATATTATATATATTAAAAAT ATATATAATATATATTAAAAATATATATTATATATATTAAAATATATATA TAATATATATTAAAAATATATATTATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTD_chr3_15596745_15658714	15597524	C C	CTCATTTC others(303): Show CTCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02559.hp1 others(2): Show HG02257.hp2 HG02258.hp1 HG02559.hp1 HG03041.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0054 a0001c0001t0015 a0001c0001t0054	a0001c0001t0015g0291 a0001c0001t0015g0292 a0001c0001t0015g0294 others(2): Show a0001c0001t0015g0291 a0001c0001t0015g0292 a0001c0001t0015g0294 a0001c0001t0015g0295 a0001c0001t0054g0293	5	416	0.0120	310	c.-43 others(321): Show c.-4387_-4386insTCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCA	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4220		chr3	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(303): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGTCGGC CAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	198	0.0051	310	c.377 others(331): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(303): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGTCGGC CAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	198	0.0051	310	c.377 others(331): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(303): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGG GAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGTGGGGGGCGGGGGTCGGC CAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20129.hp1 HG00738.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0113 a0001c0001t0002g0114	2	198	0.0101	310	c.377 others(331): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGTGGGGGGCGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(303): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCACCATCCAGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGTCGGC CAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	198	0.0051	310	c.377 others(331): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCACCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGCGCGGGGGGGGGGGGTCGGCCAGCCGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44598696	T T	TAAAATCA others(303): Show TAAAATCAGAAGTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20129.hp1 HG00738.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0113 a0001c0001t0002g0114	2	198	0.0101	310	c.377 others(331): Show c.377-105572_377-105571insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAATCAGAAGTCCT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200816925	C C	CACACACG others(303): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACG CGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCG CGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCG TGTATGTGTGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	366	0.0027	310	c.645 others(327): Show c.645+1287_645+1288insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGT GTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGT GTACACACACGCGCGTGTATGTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816951	C C	CACACACG others(303): Show CACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACA CACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACA CACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACA CGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACG CGCGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCG CGTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCG TGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	366	0.0027	310	c.645 others(327): Show c.645+1313_645+1314insGCGCGTGTATGTGTGTACACACACGCGC GTGTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGT GTATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGT ATGTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTAT GTGTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGT GTGTACACACACGCGCGTGTATGTGTGTACACACACGCGCGTGTATGTGT GTACACACACGCGCGTGTATGTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGC others(303): Show GTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGT GTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGC GTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACAC GCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACAC ACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACAC ACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACAC ACACACGCGTA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	366	0.0027	310	c.645 others(327): Show c.645+1328_645+1329insCGTACACACACACGCGTGTGTATGTGCG TACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTG CGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATG TGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTA TGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTG TATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGTG TGTATGTGCGTACACACACACGCGTATATGTG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)