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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Select column to sort.

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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
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(632): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGGAC AAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAAGG GGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGGA GGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGGG AGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAG GAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0126 a0001c0001t0020g0126	1	386	0.0026	639	c.-46 others(650): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC CTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCT CCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCC TCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCC TCTTTTGTCCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTC CTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTC CTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTC TTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTC CCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(632): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCG AAAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAA CCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCC GAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTC CACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACTC ACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATC CCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCTCCAC CCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0168 a0001c0001t0009g0168	1	398	0.0025	639	c.64+ others(656): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGTTT GGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTG GGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGG GATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGG GAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCG GGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGG TGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTG GAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTT CGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTT GGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	167997457	G G	GGGGGGCG others(632): Show GGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0220 a0003c0004t0001g0220	1	375	0.0027	639	c.-20 others(650): Show c.-2012_-2011insGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATC TGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCA GAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		213		chr6	TogoVar
LAMC1_chr1_183018420_183150592	183149942	C C	CCTCTCCT others(632): Show CCTCTCCTCACACACCACACAGGTCACACCCCTCTCCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCC TCCTCACACACCACACAGCTCACACCCCTCTTCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCGTCTCC TCCTCCCACACCACACAGCTCACACCCCTCTATCCTCTCACACCAGACAG CTCACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTATCC TCACACACCACACAGCCCACACCCCTCTATCCTCACACACCACACAGCCC ACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACA CACCACACAGCTCACACCGCTCTCCTCCTCACACACCACACAGCCCACAC CCCTCTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACC ACACAGGTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCT CTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACAC AGCTCACACCCCTCTTCCTCCTCACACACCACACAGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG03540.hp1 HG02896.hp2 HG03540.hp1	a0002 a0004 a0002 a0004	a0002c0021 a0004c0007 a0002c0021 a0004c0007	a0002c0021t0001 a0004c0007t0005 a0002c0021t0001 a0004c0007t0005	a0002c0021t0001g0221 a0004c0007t0005g0122 a0002c0021t0001g0221 a0004c0007t0005g0122	2	308	0.0065	639	c.71 others(650): Show c.7152_*7153insCTCTCCTCACACACCACACAGGTCACACCCCTCT CCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAG CCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAG CTCACACCCGTCTCCTCCTCCCACACCACACAGCTCACACCCCTCTATCC TCTCACACCAGACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCT CACACCCCTCTATCCTCACACACCACACAGCCCACACCCCTCTATCCTCA CACACCACACAGCCCACACCCCTCTCCTCACACACCACACAGCTCACACC CCTCTCCTCCTCACACACCACACAGCTCACACCGCTCTCCTCCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCCCACACCC CTCTCCTCACACACCACACAGGTCACACCCCTCTCCTCCTCACACACCAC ACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCTCTTCCTCCTCACACACCACACA GCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4351		chr1	TogoVar
LY75_chr2_159798355_159909756	159874329	T T	TATATATA others(632): Show TATATATAAATATATATATGTTTTGTAAATATATATAAATATATATATGT TTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAAATATAT GTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAAATAT ATATATGTTTTGTAAATATATAAATATATATTTTGTAAATATATATATAT TTTGTAAATATATATATATTTTGTAAATATATATATATTTTGTAAATATA TATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTAAATAT ATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATATATAT ATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGTATATA TATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAAT ATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAAA ATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATATAAAA ATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATATATAT ATATTTTGTAAATATATATAAATATATACATATTTTGTAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00597.hp1 others(8): Show HG00544.hp1 HG00558.hp1 HG00597.hp1 HG02071.hp2 HG02132.hp2 NA18747.hp1 NA18970.hp2 NA18981.hp1 NA18983.hp1 NA18990.hp2 NA19084.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004	a0001c0003t0001g0256 a0001c0003t0003g0249 a0001c0003t0003g0258 others(8): Show a0001c0003t0001g0256 a0001c0003t0003g0249 a0001c0003t0003g0258 a0001c0003t0003g0259 a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0268 a0001c0003t0003g0271 a0001c0003t0003g0274 a0001c0003t0003g0277 a0001c0003t0004g0257	11	330	0.0333	639	c.197 others(658): Show c.1974+1114_1974+1115insTTACAAAATATGTATATATTTATATA TATTTACAAAATATATATATATTTACAAAATATATATATTTATATATTTA CAAAATATATATATTTTTATATATTTACAACATATATTTTTATATATTTA CAAAATGTATATATTTTTATATATTTACAAAATGTATATATTTATATATT TACAAAATGTATATATTTACAAAATATATATACATATTTACAAAATATAT ATATTTACAAAATATATATACATATTTACAAAATATATATATTTACTATA TATATTTACAAAATATATATATAATTTACAATATATATATAATTCACAAA ATATATATTTATATATATTTACAATATATATTTACAAAATATATATATAT TTACAAAATATATATATATTTACAAAATATATATATATTTACAAAATATA TATATATTTACAAAATATATATATATTTACAAAATATATATTTATATATT TACAAAACATATATATATTTATATATATTTACAAAACATATATATTTATA TATATTTACAAAACATATATTTATATATATTTACAAAACATATATATTTA TATATATTTACAAAACATATATATATTTATATATATTTACAAAACATATA TATATTTATATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MICAL3_chr22_17782649_18029561	17876968	G G	GGTTAGGG others(632): Show GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAT GGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGA GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0059 a0009c0014t0001g0086 a0009c0014t0001g0059 a0009c0014t0001g0086	2	274	0.0073	639	c.224 others(658): Show c.2242-4946_2242-4945insTTCCCTAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCC CTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAAC CTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACC TCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877207	T T	TGGAGGTT others(632): Show TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	274	0.0037	639	c.224 others(658): Show c.2242-5185_2242-5184insCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877441	G G	GGGAGGTT others(632): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGG GAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGA TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	274	0.0037	639	c.224 others(658): Show c.2242-5419_2242-5418insATAACTTCCCTAACCTCCATAACCTC CCTAACCTCCATAATCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC ATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACC TCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACTTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC CTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500173	A A	AGGTGGCA others(632): Show AGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATG GTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGT GGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGA TGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGGT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	250	0.0040	639	c.748 others(656): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGAT GGGGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(632): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	356	0.0028	639	c.91+ others(652): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGG TGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(632): Show AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GTCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAACCCCCCGCCCGGCCA GCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGG GGGGGTCAGCCCCCTGCCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0104 a0001c0001t0018g0104	1	155	0.0065	639	c.155 others(658): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCCCTC CTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAC CCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(632): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGG GGCTCCTCTGCCCGGCCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGC CAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	155	0.0065	639	c.155 others(658): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGGC CGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(632): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGTTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGC TCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCC AGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	155	0.0065	639	c.155 others(658): Show c.155-27627_155-27626insCCCGGACGGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAACC CCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(632): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCT GCCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTC GCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAAACCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGG GGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	155	0.0065	639	c.155 others(658): Show c.155-27627_155-27626insCCCGGACGGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTTGACCCCCCCCACCTCC CTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGC CGACCCCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PDGFC_chr4_156755454_156976799	156847740	A A	AAATCTAA others(632): Show AAATCTAAAGTTATTCCAAATCTTAAAGTTTAAGTTAAAACGAAGAATAA AAGCAGGAATAGGATAAAGGTATATACTAATTCAATCAACAACATAATAA GAGATAGAAAAGGAACAGTAAAAGACTCGGAAGAAAAAAATCTTTCTTCT CACAGACGATATCATCTTTTGCATAAATAAAATATAATTTCCACAACAAC TGTCAAAATAAATGAAAAAGCTTAACAAGTTTTCTAGACATAAGATCAAT ACTAAAAAATTGATTGCATTTCTAAACACCAGCAATATACAGTTAGAAAA TGTAGTGTCAAAAAAAGATTTTAGCAATAGCCTATAAGGAATCTAGAACT AACACTAAATAATGGATGTGCAACATCATTATGAATAAAATTTTAAAACC ATATAGACATTAAACAAGACTCCAATAAATGGAGCAATGTAAATAAAGTT CTCCATCTGTAAATAAAGCAATGTAAATAAAGCAATGTAAATAAAGGACA GAGTCATTATTACTGTGATGTCAGTTCTCTTCAAAATGATCTATACATTC AATGTTCTTACAATAAAAATAACAACAGTAGTTTTCAATGAACTTTACAA CTATTTCTCAAGGTTGAAAACAGTAGCTTTCAATGAACTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02897.hp1 HG03516.hp2 HG02717.hp2 HG02897.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0119 a0001c0001t0008g0121 a0001c0001t0008g0171 a0001c0001t0008g0119 a0001c0001t0008g0121 a0001c0001t0008g0171	3	208	0.0144	639	c.314 others(656): Show c.314+2480_314+2481insGAGTTCATTGAAAGCTACTGTTTTCAAC CTTGAGAAATAGTTGTAAAGTTCATTGAAAACTACTGTTGTTATTTTTAT TGTAAGAACATTGAATGTATAGATCATTTTGAAGAGAACTGACATCACAG TAATAATGACTCTGTCCTTTATTTACATTGCTTTATTTACATTGCTTTAT TTACAGATGGAGAACTTTATTTACATTGCTCCATTTATTGGAGTCTTGTT TAATGTCTATATGGTTTTAAAATTTTATTCATAATGATGTTGCACATCCA TTATTTAGTGTTAGTTCTAGATTCCTTATAGGCTATTGCTAAAATCTTTT TTTGACACTACATTTTCTAACTGTATATTGCTGGTGTTTAGAAATGCAAT CAATTTTTTAGTATTGATCTTATGTCTAGAAAACTTGTTAAGCTTTTTCA TTTATTTTGACAGTTGTTGTGGAAATTATATTTTATTTATGCAAAAGATG ATATCGTCTGTGAGAAGAAAGATTTTTTTCTTCCGAGTCTTTTACTGTTC CTTTTCTATCTCTTATTATGTTGTTGATTGAATTAGTATATACCTTTATC CTATTCCTGCTTTTATTCTTCGTTTTAACTTAAACTTTAAGATTTGGAAT AACTTTAGATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156847740	A A	AAATCTAA others(632): Show AAATCTAAAGTTATTCCAAATCTTAAAGTTTAAGTTAAAACGAAGAATAA AAGCAGGAATAGGATAAAGGTATATACTAATTCAATCAACAACATAATAA GAGATAGAAAAGGAACAGTAAAAGACTCGGAAGAAAAAAATCTTTCTTCT CACAGACGATATCATCTTTTGCATAAATAAAATATAATTTCCACAACAAC TGTCAAAATAAATGAAAAAGCTTAACAAGTTTTCTAGACATAAGATCAAT ACTAAAAAATTGATTGCATTTCTAAACACCAGCAATATACAGTTAGAAAA TGTAGTGTCAAAAAAAGATTTTAGCAATAGCCTATAAGGAATCTAGAACT AACACTAAATAATGGATGTGCAACATCATTATGAATAAAATTTTAAAACC ATATAGACATTAAACAAGACTCCAATAAATGGAGCAATGTAAATAAAGTT CTCCATTTGTAAATAAAGCAATGTAAATAAAGCAATGTAAATAAAGGACA GAGTCATTATTACTGTGATGTCAGTTCTCTTCAAAATGATCTATACATTC AATGTTCTTACAATAAAAATAACAACAGTAGTTTTCAATGAACTTTACAA CTATTTCTCAAGGTTGAAAACAGTAGCTTTCAATGAACTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02486.hp1 HG02622.hp2 others(4): Show HG01123.hp1 HG02486.hp1 HG02622.hp2 HG02723.hp2 HG02965.hp1 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0032 a0001c0001t0010 a0001c0001t0012 a0001c0001t0032	a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0010g0009 others(4): Show a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0011 a0001c0001t0012g0181 a0001c0001t0012g0183 a0001c0001t0032g0010	7	208	0.0337	639	c.314 others(656): Show c.314+2480_314+2481insGAGTTCATTGAAAGCTACTGTTTTCAAC CTTGAGAAATAGTTGTAAAGTTCATTGAAAACTACTGTTGTTATTTTTAT TGTAAGAACATTGAATGTATAGATCATTTTGAAGAGAACTGACATCACAG TAATAATGACTCTGTCCTTTATTTACATTGCTTTATTTACATTGCTTTAT TTACAAATGGAGAACTTTATTTACATTGCTCCATTTATTGGAGTCTTGTT TAATGTCTATATGGTTTTAAAATTTTATTCATAATGATGTTGCACATCCA TTATTTAGTGTTAGTTCTAGATTCCTTATAGGCTATTGCTAAAATCTTTT TTTGACACTACATTTTCTAACTGTATATTGCTGGTGTTTAGAAATGCAAT CAATTTTTTAGTATTGATCTTATGTCTAGAAAACTTGTTAAGCTTTTTCA TTTATTTTGACAGTTGTTGTGGAAATTATATTTTATTTATGCAAAAGATG ATATCGTCTGTGAGAAGAAAGATTTTTTTCTTCCGAGTCTTTTACTGTTC CTTTTCTATCTCTTATTATGTTGTTGATTGAATTAGTATATACCTTTATC CTATTCCTGCTTTTATTCTTCGTTTTAACTTAAACTTTAAGATTTGGAAT AACTTTAGATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGG GTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp1 HG00558.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0059 a0001c0001t0001g0084	2	237	0.0084	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG GTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	237	0.0042	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	237	0.0042	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	237	0.0042	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	237	0.0042	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTTGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	237	0.0042	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(632): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	237	0.0042	639	c.537 others(656): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGG GCGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGG CTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(632): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGG GCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGTGGGGG CGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGG CGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGG CGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGG CGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGC GCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCC GGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0134 a0004c0006t0134	a0004c0006t0134g0011 a0004c0006t0134g0011	1	210	0.0048	639	c.45+ others(650): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTA GGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAG GGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAG GGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAG GGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAG GGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGG GGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGG GCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGG CGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTG GGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50397832	A A	AGGGGGGC others(632): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG CTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCT TGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0208 a0001c0002t0021g0208	1	340	0.0029	639	c.227 others(656): Show c.227+3702_227+3703insGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAG CCCTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGC AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RGPD3_chr2_106398406_106473413	106467191	A A	AGAGCGCG others(632): Show AGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCAT CGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCC AGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCC GCAGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGC GCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGG GTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGG AGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCTG CCGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCGCGC CAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGC CGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAG CGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCTCAACA GAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATC GAGGCCGCCGCCGGGCCAGGTCGAGGCCGCCGCCTCAACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0003 a0006c0027t0003	a0006c0027t0003g0218 a0006c0027t0003g0218	1	382	0.0026	639	c.72+ others(654): Show c.72+1025_72+1026insGGTTGAGGCGGCGGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTC CCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGCCGGCCTCGACC TGGCCCTGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGCG CTGTTACCTGGCGCGCTCTGTTGAGGCGGCGGCGGCGGCCTCGACCTGGC CAGGCGGCGGCAGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAGG CGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTGGAGGCGG CGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCT CCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGAC CCGGCCCTGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGC GCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGC GGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCT GGCGCGCTC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(632): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGT TTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTC AATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTG GCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGC TGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02698.hp2 HG03688.hp2 others(5): Show HG01993.hp2 HG02698.hp2 HG03688.hp2 HG04228.hp1 NA18951.hp1 NA18982.hp2 NA19007.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0174 a0001c0001t0001g0192 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0174 a0001c0001t0001g0192 a0001c0001t0001g0380 a0002c0002t0001g0406 a0002c0002t0001g0407 a0002c0002t0002g0066	8	454	0.0176	639	c.684 others(654): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGG CTAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGG CTGGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAA AGTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTT TAATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCAC TTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(632): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTG TAATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGA GTTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAT ATTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTC GGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAG TGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAAC TCCGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGT TTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTC AATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTG GCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGC TGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	454	0.0022	639	c.684 others(654): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTT TAATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCAC TTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(632): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG TTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGT TTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTC AATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTG GCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGC TGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01978.hp2 HG02055.hp2 others(3): Show HG00597.hp1 HG01978.hp2 HG02055.hp2 HG02145.hp1 HG02897.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0336 a0001c0001t0001g0362 a0001c0001t0001g0385 others(3): Show a0001c0001t0001g0336 a0001c0001t0001g0362 a0001c0001t0001g0385 a0001c0001t0004g0413 a0001c0004t0001g0207 a0002c0002t0001g0191	6	454	0.0132	639	c.684 others(654): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGC CTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGC TAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGC TGGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAA GTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTT TAATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCAC TTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SENP7_chr3_101319205_101518212	101439986	G G	GGGAGGGA others(632): Show GGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTTG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGGTCAG CCCCCCCGCCCAGCCAGCTGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGC CGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0119 a0003c0004t0002g0119	1	370	0.0027	639	c.284 others(658): Show c.284+18968_284+18969insTGGACGGGGCGGCTGGCCAGGCAGGG GGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCAGCTG GCTGGGCGGGGGGGCTGACCCCCCCGACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCC CCCACCTCCCTCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(632): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CACCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCTCTCCCCTCCCCCCCT CCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCTCCCCTCCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCCTCCCCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0080 a0001c0001t0032g0080	1	150	0.0067	639	c.77- others(656): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCACCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCTCTCCCCTCC CCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCTCCC CTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCCTC CCCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCC TCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(632): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CACCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCTCTCCCCTCCCCCCCT CCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCTCCCCTCCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCCTCCCCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0012 a0001c0001t0040g0012	1	158	0.0063	639	c.22+ others(656): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCACCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCTCTCCCCTCC CCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCTCCC CTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCCTC CCCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCC TCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(632): Show AATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAG GGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTA GGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGATGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0184 a0001c0001t0009g0184	1	376	0.0027	639	c.101 others(658): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGTTAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(632): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAG CATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGA GGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0148 a0002c0001t0003g0148	1	316	0.0032	639	c.257 others(658): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACC CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCC TCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTC TCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCT TGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACC CCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCC TGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(632): Show GGGGGAGCCTCCGGGGGAAGGATCCACGCACGGATCCGGCAGGGGGAGGT GGGCGGGGGAGCCTCCGGGGGATGGATCCACGGGGCAGGGTGGAAGGTGG CGGGGAGCCTCCTGGAAGGATCCACGGGCAGGGGGAGGGTGCGGGGAGCC TCCTGGGGAAGGATCCACGGGGCAGGGGGGAAGGTGGCGGTGGAGCCTCC GGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGA AGGATCCACGGGGCAGGGGGAGTGGCGGGGAGCCTCCGGGGGAAGGATCC ACGGGGCAGGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGCGGGGGAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGGCAGG GGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGT AGGTGGCGGGGAGCCTCCGGGGAAGGATCCACGGGGCAGGGGGAGGTGGA GGGGGGAGCCTCCGGGGAAGGATCCACGGGGCAGGGGGCAGGTGGCGGGG AGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTC CGGGGGAAGGATACCACGGGGGCAGGGGGAGTGGTCGGGC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	318	0.0031	639	c.949 others(654): Show c.949+179_949+180insGCCCGACCACTCCCCCTGCCCCCGTGGTAT CCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTGCCCCCTGCCCCGTGGATCCTTCCCCGGA GGCTCCCCCCTCCACCTCCCCCTGCCCCGTGGATCCTTCCCCGGAGGCTC CCCGCCACCTACCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGC CACCTCCCCCCCTGCCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCC CCGCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACTCCCCCTGCCC CGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGA TCCTTCCCCCGGAGGCTCCACCGCCACCTTCCCCCCTGCCCCGTGGATCC TTCCCCAGGAGGCTCCCCGCACCCTCCCCCTGCCCGTGGATCCTTCCAGG AGGCTCCCCGCCACCTTCCACCCTGCCCCGTGGATCCATCCCCCGGAGGC TCCCCCGCCCACCTCCCCCTGCCGGATCCGTGCGTGGATCCTTCCCCCGG AGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(632): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGAGGGAGAA AGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGGG ACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAA GGGGAGGAGGGAGAAGTGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGG AGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGG GAGAAAGGAGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAG GAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	350	0.0029	639	c.624 others(654): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTT TCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCACTTCTC CCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCT CCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTC CCCTCCTCCTTTCTCCCTCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCA CCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(632): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGGAC AAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAAGG GGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGGA GGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGGG AGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAG GAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	350	0.0029	639	c.624 others(654): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCT TTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTC TCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTT CTCCTCTTTTGTCCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCC CCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCA CCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(632): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATAAAA TATATATAATATATATATTATATATTATATATATTATATATAATATATTA TATATTATATATATTATATATAATATAAATATATTATATATAATATATAT AATATAAATATATTATATATAATATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0205 a0001c0001t0004g0206	2	346	0.0058	639	c.-70 others(656): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATATTATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATAAT ATATATAATATATAATATATTATATATAATATATATAATATATAATATAT ATATTATATATATTTTATATAATATATATATTATATATATTATATATAAT ATATTTATATTATATATTATATATAATATATTTATATTATATATTATATA TAATATATTTATATTTATATAATATATAATATATTTATATTTATATATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAAT ATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(632): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATTATATAAATA TAAATATATTATATATAATATATAATATAAATATATTATATATAATATAT AATATAAATATATTATATATAATATATATAATATATATATTATATATAAT ATATATAATATATATATTATATATATTATATATATTATATATAATATAAA TATATTATATATAATATATATAATATAAATATATTATATATAATATATAT AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	346	0.0029	639	c.-70 others(656): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATATAATATA TATATTATATATATTATATATAATATATATATTATATATATTATATATAA TATATTTATATTATATATTATATATAATATATTTATATTATATATTATAT ATAATATATTTATATTTATATAATATATAATATATTTATATTATATATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAAT ATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(632): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATATATAAATATAAAT ATATTATATATTATATAAATATAAATATATTATATATAATATATAATATA AATATATTATATATAATATATAATATAAATATATTATATATAATATATAT AATATATATATTATATATAATATATATAATATATATATTATATATATTAT ATATATTATATATAATATAAATATATTATATATAATATATATAATATAAA TATATTATATATATTATATATAATATAAATATATTATATATATTATATAT AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0013 a0001c0001t0015g0013	1	346	0.0029	639	c.-70 others(656): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATAAT ATATATAATATATTTATATTATATATATTATATATAATATATTTATATTA TATATAATATATATAATATATATAATATATATATTATATATATTATATAT AATATATATATTATATATATTATATATAATATATTTATATTATATATTAT ATATAATATATTTATATTATATATTATATATAATATATTTATATTTATAT AATATATAATATATTTATATTTATATATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAAT ATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(632): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCA GAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGG GAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGG GAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGA GGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGG GGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	639	c.12 others(650): Show c.1221_*1222insTCCCGCCACCCCCTCCCCCTCCCCCTCCTCTCCC CTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTT CCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCT TCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCT CCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCC CCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTC CTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCT CCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCC CCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTC CCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCC CTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCAC CTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCT CCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(632): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGA GGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGG TGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGG GGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGG AAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGG GGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGA GGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAG GGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGG AGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	639	c.12 others(650): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCC CCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCC CTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCC TCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCC CCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTC CCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTC CCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTG CCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCC CCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCC CTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(632): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAG GGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAA GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGG AGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	639	c.12 others(650): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCTCCTCCC CTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCC TCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCT CCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCC CTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCC CCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCC TTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTT CCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCT CACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCAC CCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(632): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGCTGGTCTCAGTGGCTCATGCCTGTAATACTTGCATATCTTGGGA TGGCAAGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGG CAACACACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGG TGCATGCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCT TGAGCCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACT CCAGCCAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAG GCCAACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTG TCATTTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAA ATTTATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACA GATTTTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0122 a0002c0017t0001g0122	1	150	0.0067	639	c.531 others(658): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGTATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGGGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTG TGGTATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATC CTCCTGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827465	A A	AATATATT others(632): Show AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	302	0.0033	639	c.12+ others(654): Show c.12+4019_12+4020insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(632): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTA CAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGA GACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	356	0.0028	639	c.245 others(656): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA AAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTT TTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAG TTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(632): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCTGGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	422	0.0024	639	c.64 others(650): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCCGCTGGGCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAAC CCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(632): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGA GTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	639	c.64 others(650): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAAC CCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(632): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGG GTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGC CCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGA GTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	639	c.64 others(650): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCC CGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACC CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
THEG_chr19_356747_381026	377288	C C	CCGTGCCC others(632): Show CCGTGCCCCCACCCAGCCTCTCCCCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTACCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTGTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAG CCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	370	0.0027	639	c.-13 others(650): Show c.-1319_-1318insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGG GAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGGGGAGAGGCTGGGTGGGGGCA CGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGACAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGG GGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGG GGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGGGAGAGGCTGGGTGGGG GCACG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1263		chr19	TogoVar

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Search Results (Total: 10000 hits)