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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(498): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATA GATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCT ATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	262	0.0038	505	c.129 others(522): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PIWIL1_chr12_130332887_130377637	130338250	T T	TTGCGGGG others(498): Show TTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTG GCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTC CCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGC GGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATG CAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCC GGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGG GGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGG TCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGT GTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGGGA TGCAGGAGCCGGGTGCTGGGGGCGAGGTCCCAGGTGCGGGGGATGCAGGA GCCGGG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0298 a0001c0001t0004g0298	1	425	0.0024	505	c.-13 others(520): Show c.-13+111_-13+112insTCGAGGTCCCAGGTGCGGGGGATGCAGGAG CCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGC GGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGA GGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAG GTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGG AGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGT GCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGC GAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCC AGGTGCGGGGGATGCAGGAGCCGGGTGCTGGGGGCGAGGTCCCAGGTGCG GGGGATGCAGGAGCCGGGTGCGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(498): Show CGGGCGGGGGGCTGACCCCCCCACCCATCTCCCTCCCGGACGGGGCGGCT GGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGGACGGGGCGGCTG GCCGGGCGAGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGTTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0107 a0001c0014t0001g0107	1	148	0.0068	505	c.822 others(522): Show c.822-3675_822-3674insCATCTCCCTCCCGGACGGGGCGGCTGGC CTGGCGGGGGGCTGACCCCCCCACCTCCCTTCCGGACGGGGCGGCTGGCC GGGCGAGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGTTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCAGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GTGGGGCGGGGGGCTGACCCCCCCACC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24109274	C C	CGGGCGGG others(498): Show CGGGCGGGGGGGCTGACCCCCCCACCCATCTCCCTCCCGGACGGGGCGGC TGGCCTGGCGGGGGGCTGACCCCCCCCACCTCCCTTCCGGACGGGGCGGC TGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGATGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCA GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0148 a0001c0002t0012g0148	1	148	0.0068	505	c.822 others(522): Show c.822-3689_822-3688insGCTGACCCCCCCACCCATCTCCCTCCCG GACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCACCTCCCTTCCG GACGGGGCGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCAAGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCC TGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGTGGGGCGGGGGG	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2122930	C C	CGGTGGTA others(498): Show CGGTGGTAGTTAGGGTCATGGCGGTAGTTAGCGTCACGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGTCATGGGTGGTAG TTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTG GTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGCGGTAGTTAGCGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGCG TCATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGGAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGAT AGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGGAGTTAGGGTCACGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGCGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	286	0.0035	505	c.335 others(524): Show c.335-12330_335-12329insTGGTAGTTAGGGTCATGGCGGTAGTT AGCGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGCGTCATGGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACG GTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGT CATGGCGGTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGGAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACAGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCA TGGTGGGAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCATGGTGGTAGTTAGGGTCGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPN4_chr2_119754922_119989899	119843930	A A	ACCCCCCC others(498): Show ACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAT CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACG GGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTTCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACAG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02976.hp2 HG03139.hp1 others(1): Show HG02486.hp1 HG02976.hp2 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0033 a0001c0001t0008 a0001c0001t0033	a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 others(1): Show a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0033g0007	4	252	0.0159	505	c.139 others(524): Show c.139-18599_139-18598insCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCA CCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGCGGGGGGGCTGACCCCCCCCC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843930	A A	ACCCCCCC others(498): Show ACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCCG ACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAT CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACG GGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTTCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03225.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0013 a0001c0001t0012g0011 a0001c0001t0012g0015 a0001c0001t0008g0013 a0001c0001t0012g0011 a0001c0001t0012g0015	3	252	0.0119	505	c.139 others(524): Show c.139-18599_139-18598insCCACCTCCCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGCGGGGGGGCTGACCCCCCCCC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831065	T T	TCCCCTTC others(498): Show TCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCCTCCCTT CCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTT CCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCTCC CCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCC CCGCCCTCCCCTCCCCCTTCTCTCCCCTCCCTCCCCTCCCCTTTTCTCCT TCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCTACACTTCCGTC CCCTCCCCTTCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCC TCTTCCCTCCCCTCCTTCCCATCCCCTTCCCTCCCTTCCCCTCCCCCCAC CCTCCCTTCCCTCCCTCTTCTCTCCCCCTCCCCTCCCCTTCCTCCCTTCC CCTCCCCTCCCCTCCCCTCCCTTCCCTCCCCTCCCCTCCCCTCCCTTCCC ATCCCC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0048 a0001c0001t0080g0048	1	218	0.0046	505	c.80+ others(522): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCCCCTCCCCT CCCCTTCCCTCCCTTTCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTC CCTTCCCCTCCCCTCCTCTCCCCGCCCTCCCCTCCCCCTTCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCTTCCCTCCCATCCCCTACACTTCCCTCCCC TCCCCTTCCTACACTTCCGTCCCCTCCCCTTCCTACACTTCCCTTCCCTC CCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCTTCCCATCCCCTTC CCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCTCCCTCTTCTCTCCCCCT CCCCTCCCCTTCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCC CCTCCCCTCCCCTCCCTTCCCATCCCC	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24			chr17	TogoVar
RFC1_chr4_39282456_39371362	39348428	A A	AAAAGGAA others(498): Show AAAAGGAAAGGAAAGGAAAGGAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AAGGAAAAGGAAAAGGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0250 a0001c0003t0001g0250	1	276	0.0036	505	c.132 others(522): Show c.132+2919_132+2920insCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTTCCTTTTCCTTTTCCTTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTCCTTTCCTTTCCTTTCCTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RNF213_chr17_80255852_80403794	80281590	G G	GCCAACAC others(498): Show GCCAACACACACACCCCACTCACCCCACTCACACCCAACACACACACACA CCCCACTCACCCCCAACACACACACACCACTCACACCACTCACACACCCC CAACATACATATCCCACTCACCCCACTCACACACACCCAACACACACACA CACCCCACTCACCCCCAACACATACAAATCCCACTCACACCACTCACACA CACATACCCCACTCACACACACCCCAACACACACATACACCCCACTCACA CACATACCCCAACACACACACATATCCCACTCACACCACTCACCCCCAAC ATACACCCCACTCACCCCACTCACACACACCCAACACACACACACACCCC ACTCACCCCCAACACACACACATCCGACTCACACCACTCACACACCCCAA CACACATACCCCACTCACACACACACCCCAACACACACACACCCCTCTCA TCCCACTCACACATACCCAACACACACACAGCCCACTCACACGACTCACA CACCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00642.hp1 others(79): Show HG00140.hp1 HG00408.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18944.hp1 NA18947.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18980.hp2 NA18990.hp1 NA18990.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19043.hp1 NA19065.hp1 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19086.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(36): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0027 a0030 a0037 a0055 a0056 a0057 a0060 a0063 a0072 a0074 a0077 a0079 a0085 a0089 a0090 a0094 a0095 a0096 a0097 a0098 a0100 a0101 a0103 a0104	a0001c0001 a0001c0003 a0001c0004 others(47): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0053 a0001c0076 a0002c0002 a0002c0010 a0002c0061 a0003c0005 a0004c0009 a0005c0007 a0005c0105 a0006c0011 a0006c0044 a0006c0045 a0007c0008 a0008c0028 a0012c0015 a0013c0012 a0014c0020 a0015c0018 a0016c0014 a0017c0019 a0018c0033 a0018c0108 a0027c0025 a0030c0110 a0037c0145 a0055c0048 a0056c0049 a0057c0050 a0060c0063 a0063c0052 a0072c0067 a0074c0068 a0077c0081 a0079c0078 a0085c0086 a0089c0115 a0090c0114 a0094c0041 a0095c0040 a0096c0107 a0097c0042 a0098c0109 a0100c0046 a0101c0111 a0103c0120 a0104c0119	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(67): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0007 a0001c0006t0005 a0001c0053t0029 a0001c0076t0011 a0002c0002t0003 a0002c0002t0005 a0002c0002t0009 a0002c0002t0032 a0002c0002t0051 a0002c0010t0010 a0002c0061t0004 a0003c0005t0007 a0003c0005t0011 a0004c0009t0005 a0004c0009t0009 a0004c0009t0019 a0005c0007t0003 a0005c0007t0004 a0005c0007t0009 a0005c0105t0021 a0006c0011t0005 a0006c0011t0010 a0006c0011t0019 a0006c0044t0020 a0006c0045t0011 a0007c0008t0003 a0007c0008t0008 a0007c0008t0046 a0008c0028t0018 a0012c0015t0015 a0012c0015t0033 a0013c0012t0049 a0013c0012t0053 a0013c0012t0056 a0014c0020t0014 a0015c0018t0022 a0016c0014t0017 a0016c0014t0041 a0017c0019t0024 a0018c0033t0016 a0018c0108t0006 a0027c0025t0013 a0027c0025t0074 a0030c0110t0076 a0037c0145t0035 a0055c0048t0063 a0056c0049t0025 a0057c0050t0017 a0060c0063t0017 a0063c0052t0073 a0072c0067t0008 a0074c0068t0019 a0077c0081t0002 a0079c0078t0010 a0085c0086t0007 a0089c0115t0006 a0090c0114t0066 a0094c0041t0061 a0095c0040t0003 a0096c0107t0039 a0097c0042t0008 a0098c0109t0064 a0100c0046t0013 a0101c0111t0027 a0103c0120t0050 a0104c0119t0038	a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0267 others(78): Show a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0002g0195 a0001c0001t0002g0263 a0001c0003t0001g0259 a0001c0003t0001g0271 a0001c0003t0002g0266 a0001c0004t0007g0268 a0001c0006t0005g0161 a0001c0053t0029g0205 a0001c0076t0011g0216 a0002c0002t0003g0194 a0002c0002t0003g0230 a0002c0002t0005g0214 a0002c0002t0009g0215 a0002c0002t0032g0001 a0002c0002t0051g0256 a0002c0010t0010g0212 a0002c0061t0004g0190 a0003c0005t0007g0274 a0003c0005t0011g0253 a0004c0009t0005g0273 a0004c0009t0009g0265 a0004c0009t0019g0272 a0005c0007t0003g0209 a0005c0007t0003g0235 a0005c0007t0004g0207 a0005c0007t0004g0211 a0005c0007t0009g0218 a0005c0105t0021g0270 a0006c0011t0005g0210 a0006c0011t0005g0224 a0006c0011t0010g0189 a0006c0011t0019g0229 a0006c0044t0020g0197 a0006c0045t0011g0202 a0007c0008t0003g0199 a0007c0008t0008g0193 a0007c0008t0046g0232 a0008c0028t0018g0244 a0012c0015t0015g0200 a0012c0015t0015g0201 a0012c0015t0033g0188 a0013c0012t0049g0217 a0013c0012t0053g0228 a0013c0012t0056g0192 a0014c0020t0014g0257 a0015c0018t0022g0085 a0016c0014t0017g0220 a0016c0014t0017g0221 a0016c0014t0041g0222 a0017c0019t0024g0017 a0017c0019t0024g0034 a0018c0033t0016g0033 a0018c0108t0006g0083 a0027c0025t0013g0260 a0027c0025t0074g0262 a0030c0110t0076g0171 a0037c0145t0035g0174 a0055c0048t0063g0245 a0056c0049t0025g0243 a0057c0050t0017g0223 a0060c0063t0017g0234 a0063c0052t0073g0242 a0072c0067t0008g0206 a0074c0068t0019g0252 a0077c0081t0002g0269 a0079c0078t0010g0251 a0085c0086t0007g0204 a0089c0115t0006g0035 a0090c0114t0066g0258 a0094c0041t0061g0233 a0095c0040t0003g0196 a0096c0107t0039g0081 a0097c0042t0008g0208 a0098c0109t0064g0084 a0100c0046t0013g0198 a0101c0111t0027g0082 a0103c0120t0050g0249 a0104c0119t0038g0247	82	292	0.2808	505	c.262 others(522): Show c.262-6213_262-6212insCCCCACTCACCCCACTCACACCCAACAC ACACACACACCCCACTCACCCCCAACACACACACACCACTCACACCACTC ACACACCCCCAACATACATATCCCACTCACCCCACTCACACACACCCAAC ACACACACACACCCCACTCACCCCCAACACATACAAATCCCACTCACACC ACTCACACACACATACCCCACTCACACACACCCCAACACACACATACACC CCACTCACACACATACCCCAACACACACACATATCCCACTCACACCACTC ACCCCCAACATACACCCCACTCACCCCACTCACACACACCCAACACACAC ACACACCCCACTCACCCCCAACACACACACATCCGACTCACACCACTCAC ACACCCCAACACACATACCCCACTCACACACACACCCCAACACACACACA CCCCTCTCATCCCACTCACACATACCCAACACACACACAGCCCACTCACA CGACTCACACACCCCCCAACACACACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80281590	G G	GCCAACAC others(498): Show GCCAACACACACACCCCACTCACCCCACTCACACCCAACACACATACACA CCCCACTCACCCCCAACACACACACACCACTCACACCACTCACACACCCC CAACATACATATCCCACTCACCCCACTCACACACACCCAACACACACACA CACCCCACTCACCCCCAACACATACAAATCCCACTCACACCACTCACACA CACATACCCCACTCACACACACCCCAACACACACATACACCCCACTCACA CACATACCCCAACACACACACATATCCCACTCACACCACTCACCCCCAAC ATACACCCCACTCACCCCACTCACACACACCCAACACACACACACACCCC ACTCACCCCCAACACACACACATCCGACTCACACCACTCACACACCCCAA CACACATACCCCACTCACACACACACCCCAACACACACACACCCCTCTCA TCCCACTCACACATACCCAACACACACACAGCCCACTCACACGACTCACA CACCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02630.hp1 HG02818.hp2	a0002 a0026 a0002 a0026	a0002c0099 a0026c0100 a0002c0099 a0026c0100	a0002c0099t0058 a0026c0100t0037 a0002c0099t0058 a0026c0100t0037	a0002c0099t0058g0255 a0026c0100t0037g0254 a0002c0099t0058g0255 a0026c0100t0037g0254	2	292	0.0069	505	c.262 others(522): Show c.262-6213_262-6212insCCCCACTCACCCCACTCACACCCAACAC ACATACACACCCCACTCACCCCCAACACACACACACCACTCACACCACTC ACACACCCCCAACATACATATCCCACTCACCCCACTCACACACACCCAAC ACACACACACACCCCACTCACCCCCAACACATACAAATCCCACTCACACC ACTCACACACACATACCCCACTCACACACACCCCAACACACACATACACC CCACTCACACACATACCCCAACACACACACATATCCCACTCACACCACTC ACCCCCAACATACACCCCACTCACCCCACTCACACACACCCAACACACAC ACACACCCCACTCACCCCCAACACACACACATCCGACTCACACCACTCAC ACACCCCAACACACATACCCCACTCACACACACACCCCAACACACACACA CCCCTCTCATCCCACTCACACATACCCAACACACACACAGCCCACTCACA CGACTCACACACCCCCCAACACACACA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(498): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATA TATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03704.hp1 homoSapiens_chm13v2.hp1 HG02080.hp2 HG03704.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084	3	308	0.0097	505	c.-75 others(524): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAATAAATATATATTTATAAACTAAATATAT AAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATA AACTAAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(498): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATA TATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	308	0.0033	505	c.-75 others(524): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAATAAATATATATTTATAAACTAAATATAT AAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAAT ATATAAATATATATTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATA AACTAAATATATAAATATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	304998	A A	AGGGGGAC others(498): Show AGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACA GGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG GGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGG ACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGG CGGGAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	133	0.0075	505	c.351 others(524): Show c.351+14421_351+14422insCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCT CGCCCTGTCCCCCTCTCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(498): Show AGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGG CGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGA GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGG CGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0093 a0001c0001t0016g0093	1	133	0.0075	505	c.351 others(524): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(498): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCCACCCA GGCCTCCCCACATCCAATCTCATTGCCCCGACCCAGGCCTCCCCACATCC ACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCC CCACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCC CCACATCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTC ACTGCCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACC CAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACA TCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGC CCCCCA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	133	0.0075	505	c.-21 others(524): Show c.-212-6765_-212-6764insTGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTG GATGTGGGGAGGCCTGGGTGGGGGGGCAGTGAGTGTGGATGTGGGGAGGC CTGAGCCCGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCA GTGAGTGTGGATGTGGGGAAGCCTGGGTGGGGGACAGTGAGTGTGGATGT GGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGT CGGGGCAATGAGATTGGATGTGGGGAGGCCTGGGTGGGGGGGCAGTGAGT GTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAG GCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGGG CAGTGAGTGTGGATGTGGGGAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
SAMD11_chr1_918923_949574	934273	G G	GCGTTACA others(498): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGG GGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGG CTGCTC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	434	0.0023	505	c.843 others(522): Show c.843-1485_843-1484insGGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGG GCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCTGCTCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(498): Show TATAATATATAATATATAATATATATTATATATAATATATTATATATAAT ATATAATATATTATATATAATATATATTATATATTATATATAATATATAA TATATATTATATATAATATATAATATATATTATATATAATATATATTATA TATTATATATAATATATAATATATATTATATATAATATATATTATATGTT ATATATAATATATAAATATATATTATATATAATATATATTATATATAATA TATATTATATATTATATATATTATATATTATATATTATATATAATATATA TTATATATTATATATATTATATATTATATATTATATATAATATATAAATA TATTATATATAATATATAATATATAATATATATATTATATATAATATATA AATATATATTATATATTATATATAATATATAATATATTATATATATATTT AATATATATTTTATATATAAATATATATTATATATATTTAATATATATTT TATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0115 a0001c0001t0007g0115	1	188	0.0053	505	c.193 others(524): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATATTTATATATAAAATATATATTAAATATATATATAATATATT ATATATTATATATAATATATAATATATATTTATATATTATATATAATATA TATATTATATATTATATATTATATATAATATATTTATATATTATATATAA TATATAATATATAATATATATAATATATAATATATATTATATATAATATA TAATATATAATATATATAATATATAATATATATTATATATAATATATATT ATATATAATATATATTTATATATTATATATAACATATAATATATATTATA TATAATATATATTATATATTATATATAATATATAATATATATTATATATA ATATATATTATATATTATATATAATATATATTATATATTATATATAATAT ATAATATATATTATATATAATATATTATATATTATATATAATATATTATA TATAATATATATTATATATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668573	T T	TCTCCCTC others(498): Show TCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCCT CTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCATC CTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTC CCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCA TCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCTCCTTCCCT CTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCT CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTC TCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCC CTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCC CTCATC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0004 a0002c0060t0004	a0002c0060t0004g0017 a0002c0060t0004g0017	1	262	0.0038	505	c.249 others(524): Show c.2496-1704_2496-1703insGATGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGGAG AGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAAGGGAGAG GGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGGGAGAGGG AGGGTAAGGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGA AGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAG GAGAGAGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGT GAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGGGAGAGG GAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGGGGG AGGGTAAGGGGAGAGGGAGGGTGAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(498): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19003.hp2 HG00597.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0209 a0001c0001t0001g0191 a0001c0001t0001g0209	2	332	0.0060	505	c.632 others(522): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATAAAT others(498): Show TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	332	0.0030	505	c.632 others(522): Show c.632+8265_632+8266insAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77484827	T T	TGGTGGTG others(498): Show TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGG TGATGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp1 HG02735.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0108 a0001c0001t0005g0027 a0001c0001t0001g0108 a0001c0001t0005g0027	2	150	0.0133	505	c.913 others(522): Show c.913+2494_913+2495insTGGTGATGATGATGGTGGTGATTGTGAT GGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGC TGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGT GGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGG CGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGG CGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGATGGGGTGATGGTGGTGATGGGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484827	T T	TGGTGGTG others(498): Show TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGG TGATGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04204.hp2 HG02735.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0128 a0001c0001t0001g0107 a0001c0001t0001g0128	2	158	0.0127	505	c.859 others(522): Show c.859+2494_859+2495insTGGTGATGATGATGGTGGTGATTGTGAT GGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGC TGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGT GGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGG CGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGG CGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGATGGGGTGATGGTGGTGATGGGG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703950	A A	AAATATAT others(498): Show AAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAATAT ATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGT TTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTATATATACA TATAAAATATATATACATATGTTTTATATGTATATATATACATATAAAAT ATATATACATATAAAATATATACATATAAAATATATATGTTTTATATGTA TATATACATATAAAATATATATACATATGTTTTATATGTATATATATACA TATAAAACATATATACATATGTTTTATATGTGTATATATACATAGAAAAT ATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	300	0.0033	505	c.626 others(522): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTATATATACATA TAAAATATATATACATATGTTTTATATGTATATATATACATATAAAATAT ATATACATATAAAATATATACATATAAAATATATATGTTTTATATGTATA TATACATATAAAATATATATACATATGTTTTATATGTATATATATACATA TAAAACATATATACATATGTTTTATATGTGTATATATACATAGAAAATAT ATATAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SMIM36_chr17_55444856_55516452	55501088	C C	CTATTTTA others(498): Show CTATTTTATATTATAATATATAATATACTATTTTATATTATAATATATAA TATATATTATATTTTATATTATAATATATAATATAATATACATTATATTT TATGATATATAATATACATTATATTTTATGATATATAATATACATTATAT TTTATGATATATAATATACATTATATTTTATGATATATAATATACATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATGATATACATTATATTTTATGATATATGATATACA TTATATTTTATGATATATGATATACATTATATTTTATGATATATGATATA CATTATATTTTATGATATATGATATACATTATATTTTATGATATATGATA TATATTATATTTTATGATATATGATATATATTATATTTTATGATATATAT TATATATTATATTTTATGATATATAATATATATTATATTTTATGATATAT AATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02451.hp2 others(4): Show HG01891.hp2 HG02258.hp1 HG02451.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011	a0001c0001t0002g0322 a0001c0001t0006g0319 a0001c0001t0006g0323 others(4): Show a0001c0001t0002g0322 a0001c0001t0006g0319 a0001c0001t0006g0323 a0001c0001t0006g0330 a0001c0001t0008g0318 a0001c0001t0008g0320 a0001c0001t0011g0317	7	340	0.0206	505	c.17 others(524): Show c.174+9790_*174+9791insTATATTATATATCATAAAATATAATA TATATTATATATCATAAAATATAATATATAATATATATCATAAAATATAA TATATATCATATATCATAAAATATAATATATATCATATATCATAAAATAT AATGTATATCATATATCATAAAATATAATGTATATCATATATCATAAAAT ATAATGTATATCATATATCATAAAATATAATGTATATCATATATCATAAA ATATAATGTATATCATATATCATAAAATATAATGTATATTATATATCATA AAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCA TAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATAT CATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATAT TATATATTATAATATAAAATATAATATATATTATATATTATAATATAAAA TAGTATATTATATATTATAATATAAAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(498): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATGATATACATTATATTTTATGATATATG ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATACATTATATTTTATGATATATGATATATATTATATTTTATGATA TATGATATATATTATATTTTATGATATATATTATATATTATATTTTATGA TATATATAATATATATATATTTTATGATATATAATATATATTATATTTTA TGATATATAATATATATTATATTTTATGATATATAATATATTTTATATTT TATGATATATAATATATTTTATATTTTATGATATATAATATATTTTATAT TTTATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	340	0.0029	505	c.17 others(524): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAAAATATATTATATATCATAAAATATAAAATATATTATAT ATCATAAAATATAATATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATATATATATTATATATATCATAAAATATAATATATAA TATATATCATAAAATATAATATATATCATATATCATAAAATATAATATAT ATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATGT ATATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAAT GTATATCATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNED1_chr2_240993618_241100568	241052693	G G	GCCAAGCA others(498): Show GCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTGAGAGGGTCAGG GGGGTCGAGCAGGGTACATGGGACACCAGTGCGAGGCAGGTGAGATGGCC GGGGGGCGAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGAGGGC CAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTGAGATGG CCAGGGCCCAAGCAGGGTACATGGGATACCGGTGCCAGGCAGGTGAGAGG GCCGGGGGGCCAAGCAGGGTACATGGGACACCGGTGTCAGGCAGGTGAGA GGGTCAGGGGGGTCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGTG AGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGGT GAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAGG TGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATACCAGTGCCAGGCAG GTGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0134 a0001c0001t0005g0134	1	344	0.0029	505	c.208 others(522): Show c.2083+225_2083+226insCCAAGCAGGGTACATGGGACACCGGTGT CAGGCAGGTGAGAGGGTCAGGGGGGTCGAGCAGGGTACATGGGACACCAG TGCGAGGCAGGTGAGATGGCCGGGGGGCGAGCAGGGTACATGGGATACCA GTGCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACATGGGATACC AGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATGGGATAC CGGTGCCAGGCAGGTGAGAGGGCCGGGGGGCCAAGCAGGGTACATGGGAC ACCGGTGTCAGGCAGGTGAGAGGGTCAGGGGGGTCAAGCAGGGTACATGG GATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACATG GGATACCAGTGCCAGGCAGGTGAGAGGGCCAGGGCCCAAGCAGGGTACAT GGGATACCAGTGCCAGGCAGGTGAGATGGCCAGGGCCCAAGCAGGGTACA TGGGATACCAGTGCCAGGCAGGTGAGA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	15/31			chr2	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(498): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTC CTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCC CAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTC CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAA TCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTG GTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0156 a0002c0005t0001g0156	1	190	0.0053	505	c.72+ others(522): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965246	A A	ACCCCAAT others(498): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTGGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0091 a0002c0003t0001g0091	1	190	0.0053	505	c.72+ others(522): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATC CTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827174	A A	AACATATA others(498): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGT TTATATAATATATAAACATATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAAA ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATAC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	302	0.0033	505	c.12+ others(520): Show c.12+3851_12+3852insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(498): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGG GCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGTGGGTGGAGT TGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0023 a0001c0001t0011g0023	1	422	0.0024	505	c.64 others(516): Show c.6483_*6484insCAGGCAACTCCACCCACGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCATCCC CGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGG GCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(498): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG GGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGTGGGTGGAGT TGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18990.hp1 NA19080.hp1 NA18977.hp1 NA18990.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0023 a0001c0001t0011g0121 a0001c0001t0011g0023 a0001c0001t0011g0121	3	422	0.0071	505	c.64 others(516): Show c.6483_*6484insCAGGCAACTCCACCCACGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCC CGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGG GCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SUFU_chr10_102498972_102638535	102637258	A A	ATATATAT others(498): Show ATATATATATAATATATATATTATATATTATATAACATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0235 a0001c0001t0006g0235	1	268	0.0037	505	c.71 others(516): Show c.7103_*7104insTATATATATAATATATATATTATATATTATATAA CATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATATTATATATTATATAAC TATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3724		chr10	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(498): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGGG GGGAGAGAGGGGGAGGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGGGG GGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAG AGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAG GGGGAGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGGGGGGAGAGAGAGG GGGAGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0271 a0001c0002t0051g0271	1	276	0.0036	505	c.-18 others(524): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTC CCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCC TCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCTCCCCCCTCCCTCC CCCTCTCTCCCCCCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCC CTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCT TCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(498): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCC ACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTA TCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCA TCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCAC CATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCA TTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCA TCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACACT GTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCCA TCCACC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	258	0.0039	505	c.113 others(524): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCAC CCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCCTA TCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTA TCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATC CACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCC GTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATC CATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCACCG TATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCACCC ACCCACCTATCCTATTCATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1291223	G G	GACGGCGC others(498): Show GACGGCGCCTCACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGC CTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCA CCCTGCACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACAC GTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGG GACACCCGGGGACGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCG GGGACGGCACCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGC GCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACT CACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGC ACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACA GGGACACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACC CGGGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02258.hp2 HG01934.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0113 a0001c0002t0001g0012 a0001c0001t0002g0113 a0001c0002t0001g0012	2	392	0.0051	505	c.157 others(524): Show c.1573+2089_1573+2090insTCCCCGGGTGTCCCTGTCACGTGTAG GGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTG ACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCG TCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGG TGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTG TCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGC AGGGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACATTCAGGGTGAG TGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCAC TGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCG GGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCC TGTCACGTGCAGGGTGAGTGAGGCGCCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291309	G G	GGCGCCTC others(498): Show GGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCTC ACTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCC TGCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTG ACAGGGACACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGAC ACCCGGGGACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGG ACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACC TCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCAC CCTGCACGTGACAGGGACACGCGGGGGACGGCGCCTCACTCACCCTGCAC GTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGG GACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCG GGGACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	392	0.0026	505	c.157 others(524): Show c.1573+2003_1573+2004insTGTCCCCGGGTGTCCCTGTCACGTGC AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAT TGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGC CGTCCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCC GGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCC CTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACG TGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGT GAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGATTGACG CGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCC CCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGTGT CCCTGTCACGTGTAGGGTGAGTGAGGCGC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
THEG_chr19_356747_381026	376976	C C	CTCTGTGC others(498): Show CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCT CCCCCTGTGTGCCCCCACCCAGCCTCTCCCACTCTGTGCCCCACCCAGCC TCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCA CCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCC CGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0036 a0002c0002t0019g0036	1	370	0.0027	505	c.-10 others(516): Show c.-1007_-1006insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGCACGGGGGG GGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGAGAGGCTGGGTGGG GCACGGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTG GGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGTGGGAGAGG CTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGG AGAGGCTGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		951		chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930709	C C	CCGGGGTT others(498): Show CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTC AGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGC CAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGC CAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTA GGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	466	0.0022	505	c.48 others(516): Show c.4881_*4882insCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTC CATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTC CCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTA ACCCCAGCCTCCCTAACCCCG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4660		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204098	G G	GATATACT others(498): Show GATATACTATTATATCATCATATGATGATATACTATTATATCATCATATG ATGATATGATACTATTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATACTAT ATCATCATATGATATACTATATCATCATATGATATACTATATCATCATAT GATATACTATATCATCATATGATATACTATATCATCATATGATATACTAT ATCATC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0014 a0002c0003t0005g0014	1	174	0.0058	505	c.41- others(522): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATATACTATATCATCATATGATATACTATATCATCATATGAT ATACTATATCATCATATGATATACTATATCATCATATGATATACTATATC ATCATATGATATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSPAN9_chr12_3072379_3291559	3198822	C C	CACCAGCA others(498): Show CACCAGCACAGCTCACCACCAGCACAGGTCACACCAGCACAGGCCACCAC CAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGCA CAGGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAG GTCACCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGTC ACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGCTCAC CACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCA CCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACC AGCACCATCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGGC CACCACCAGCACCATCAGCACAGGCCACCACCAGCACAGCTCACCACCAG CACAGGCCACCACCAGCACAGGTCACACCAGCACAGGTCACCACCAGCAC AGGTCA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	288	0.0035	505	c.-17 others(522): Show c.-17-2355_-17-2354insACCAGCACAGCTCACCACCAGCACAGGT CACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCAC CAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAG CACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCA CAGGTCACACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAG CTCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGC CACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCA CCACCAGCACAGGCCACCACCAGCACCATCAGCACAGGCCACCACCAGCA CAGCTCACCACCAGCACAGGCCACCACCAGCACCATCAGCACAGGCCACC ACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGTCACACC AGCACAGGTCACCACCAGCACAGGTCA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8			chr12	TogoVar
ULK1_chr12_131889622_131928150	131917187	C C	CGGAGGCT others(498): Show CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGA TGGGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAG GCTGTGGGATGGGGGTCGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCAGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTCGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	344	0.0029	505	c.218 others(522): Show c.2182+127_2182+128insAGGCTGTGGGATGGGGCTCGGAGGCTGT GGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGCT GTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACG GGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGATGGGGCTCGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCAGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(498): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATA TATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03704.hp2 homoSapiens_chm13v2.hp1 HG02080.hp2 HG03704.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017	a0001c0001t0006g0184 a0001c0001t0009g0185 a0001c0001t0017g0182 a0001c0001t0006g0184 a0001c0001t0009g0185 a0001c0001t0017g0182	3	250	0.0120	505	c.82+ others(520): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATT TATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(498): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATA TATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	250	0.0040	505	c.82+ others(520): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATTTATTTAGTTTATAAATATATATTTATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATT TATATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX2_chrX_8164944_8176267	8169105	C C	CCTCCCTC others(498): Show CCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCC TCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACAC CGCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCA CACACCTCCTCTTCCTCCCTCCCTCCCCACACACCGCCTCTTCCTCCCTC CCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCT TCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCTCACACACCACCGCTTCCTCCCTCCCT CCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACAAACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACA CCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	115	0.0087	505	c.92 others(514): Show c.926_*927insAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTTTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGAGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGCGGTGTGTGGGGAGGG AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGCGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGG TGTGTGGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(498): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTC CCCCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0238 a0004c0004t0003g0238	1	246	0.0041	505	c.53- others(518): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCTCCTCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTC CCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCT CCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(499): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATTTT TATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGA TAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTT TATATTTATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0020 a0001c0022t0001g0020	1	306	0.0033	506	c.130 others(525): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATAT TTATATATTGATATATTTATCTATAAATATAAAAATATTGATATATTTAT CTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(499): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA GATAAGTATATAAATATTTTTATATTTATAGATAAATATATCAATATTTT TATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGA TAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTT TATATTTATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0144 a0001c0002t0009g0144	1	306	0.0033	506	c.130 others(525): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATAT TTATATATTGATATATTTATCTATAAATATAAAAATATTGATATATTTAT CTATAAATATAAAAATATTTATATACTTATCTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(499): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTC CCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCGCCCTCACC CTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAA CCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0249 a0002c0002t0007g0249	1	268	0.0037	506	c.-37 others(517): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCC CCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCA CCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCC TCCATCTGCCCCCAACCCTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3664		chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(499): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGGGAGGAGGAGGGGGAGGAG GAGGAGAAGGGGAGGAGGAGGGGAGGAGGGGAGGGGGGAGGGGGGGAGAG GGAGGGGGAGGAGGAGGGGGGGGGGAGGAGGGGGGGGGAGGGGAGGAGGA GGAGGGGGGGAGGAGGGGGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGA GGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGGAG GAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGAGGGGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGG AGGGGGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0190 a0001c0001t0007g0190	1	301	0.0033	506	c.125 others(527): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCTC CTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCCTCCTCCTCC CCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCC CTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCTCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCTCCCCTCCCCC CCCCTCCTCCCCCCCCCCTCCTCCTCCCCCTCCCTCTCCCCCCCTCCCCC CTCCCCTCCTCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCT CCCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTC CTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTC TTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)