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
MUC4_chr3_195741771_195816929	195760526	A A	AGTGGAGG others(629): Show AGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCT GGGAAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCA GCGCTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGA GTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGG GAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGC ACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAG TGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGG GAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGC GCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGT GGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGG GAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGC GCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGTGTCCAGCACTAGGATGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01978.hp2 HG00323.hp2 HG01978.hp2	a0102 a0171 a0102 a0171	a0102c0122 a0171c0111 a0102c0122 a0171c0111	a0102c0122t0001 a0171c0111t0001 a0102c0122t0001 a0171c0111t0001	a0102c0122t0001g0052 a0171c0111t0001g0051 a0102c0122t0001g0052 a0171c0111t0001g0051	2	249	0.0080	636	c.148 others(655): Show c.14848+357_14848+358insCTCCATCCTAGTGCTGGACACCTTCC CAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCC CAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGC TGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCC CAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCAC TCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGC TGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCC AGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATC CATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTG GACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAG CCCCCTCCAC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760553	G G	GCTAGGAT others(629): Show GCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATG GAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCAC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGA GGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAA GGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGC TAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGA GGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGTGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCATCCAGCGC TAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0002 a0005c0015t0002	a0005c0015t0002g0085 a0005c0015t0002g0085	1	249	0.0040	636	c.148 others(655): Show c.14848+330_14848+331insTGCTGGACGCCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGATGCCTTCCCAGCCCCCTCCACTCCATCCTAG TGCTGGACACCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCT TCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG CGCTGGAAGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCT TCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG CGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGC GCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA TCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
NEU4_chr2_241804193_241822413	241807418	C C	CCCCCTCA others(629): Show CCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCT CCGCAGGCCACCCTCCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGC CACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCTCCCCCTCAA CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACC TTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCTCCCCCTCAACCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	319	0.0031	636	c.-18 others(647): Show c.-1860_-1859insCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTC CCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCC TCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAACCCA GGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCC CTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGA CCTCTGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCC CTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTC TGCAGGCCACCCTCCCTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCC ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1774		chr2	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(629): Show CTATAGATAGACATATAGATGTATCTATAGATAGACATATAGATGTATCT ATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGAT GTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	636	c.-26 others(647): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATAGATACATCTATATGTCTATCTA TA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(629): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	636	c.-26 others(647): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(629): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	636	c.-26 others(647): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATA CATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(629): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCAGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA21309.hp2 HG02922.hp1 NA21309.hp2	a0011 a0019 a0011 a0019	a0011c0043 a0019c0025 a0011c0043 a0019c0025	a0011c0043t0024 a0019c0025t0005 a0011c0043t0024 a0019c0025t0005	a0011c0043t0024g0136 a0019c0025t0005g0032 a0011c0043t0024g0136 a0019c0025t0005g0032	2	166	0.0121	636	c.633 others(653): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCTCTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCG others(629): Show TGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCC TGACTGCCATCGCCACCCACACTGCCATCCCCACCCGCACTGCCATCGCC ACCCTGACTGCCATCGCCACCCACAATGCCATCCCCACCCGCACTGCCAT CGCCACCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCACACTG CCATCGCCACCCTGACTGCCATCGCCACCCACACTGCCATCCCCACCCGC ACTGCCATCGCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCCAC CCACACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCG CCACCCACACTGCCATCGCCACCCTGACTGCCATCGCCACCCACACTGCC ATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCCTGAC TGCCATCGCCACCCACACTGCCATCCCCACCCGCACTGCCATCGCCACCC GCACTGCCATCGCCACCCGCACTGCCATCGCCACCCTGACTGCCATCGCC ACCCACACTGCCATCCCCACCCGCACTGCCATCGCCACCCTGACTGCCAT CGCCACCCGCACTGCCATCGCCACCCACACTGCCATC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03834.hp1 HG02735.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0068 a0001c0001t0002g0069	2	376	0.0053	636	c.122 others(651): Show c.122-669_122-668insGATGGCAGTGTGGGTGGCGATGGCAGTGCG GGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAG TGTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATG GCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGC GATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGG TGGGGATGGCAGTGTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTG TGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGC AGTGTGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGA TGGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGCGATGGCAGTCAGGGTG GCGATGGCAGTGTGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCG GGTGGCGATGGCAGTGCGGGTGGGGATGGCATTGTGGGTGGCGATGGCAG TCAGGGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGCGATG GCAGTCAGGGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGC GATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(629): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGTC AGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02040.hp1 HG01975.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0087 a0001c0001t0001g0093	2	237	0.0084	636	c.537 others(653): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(629): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGTC AGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	237	0.0042	636	c.537 others(653): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TAATTATA others(629): Show TAATTATATATAATTGTATATAATTATTTATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTATATATTATATAATTA TATAATTATATATTATTTATTATATAATATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATATATTATTTATTATATAATTATAT ATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTAT ATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATT ATATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATAAGTATATATTATTTATTACATAAGTATATATTATTTATT ACATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATA TAATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATA TAATTGTATATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0033 a0001c0005t0001g0033	1	106	0.0094	636	c.862 others(653): Show c.862+3416_862+3417insATTATATATAATTGTATATAATTATTTA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTATATATTATATAATTATATAATTATATATTATTTATTATATAATAT ATAATTATATATTATTTATTATATAATTATATATTATTTATTATATATAT TATTTATTATATAATTATATATTATGTATTATATAATTATATAATTATAT ATTATGTATTATATAATTATATATTATGTATTATATAATTATATAATTAT ATATTATGTATTATATAATTATATATTATTTATTATATAATTATATAATT ATATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTATATAATTATATATTATTTATTATATAAGTATATATTATTTATTAC ATAAGTATATATTATTTATTACATAAGTATATATCACTTATTATATAATT GCATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATT GTATATAGTTATTTATTATATAATTGTATATAGTTATTTATTATATAATT CTATATAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATAATTA others(629): Show TATAATTATATATAATTATATATAATTATATAATTATATATAATTGTATA TAATTATTTATTATATAATTATATATTATTTATTATATATTATATAATTA TATAATTATATATTATTTATTATATAATATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATATATTATTTATTATATAATTATAT ATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTAT ATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATT ATATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATAATTATATATTATTTATTACATAAATATATATTATTTATT ACATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATA TAATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATA TAATTGTATATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp2 NA20300.hp1 HG00741.hp1 HG01261.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0005 a0001c0003t0001 a0001c0007t0001 a0001c0002t0005 a0001c0003t0001 a0001c0007t0001	a0001c0002t0005g0056 a0001c0003t0001g0010 a0001c0007t0001g0087 a0001c0002t0005g0056 a0001c0003t0001g0010 a0001c0007t0001g0087	3	106	0.0283	636	c.862 others(653): Show c.862+3417_862+3418insAATTATATATAATTATATATAATTATAT AATTATATATAATTGTATATAATTATTTATTATATAATTATATATTATTT ATTATATATTATATAATTATATAATTATATATTATTTATTATATAATATA TAATTATATATTATTTATTATATAATTATATATTATTTATTATATATATT ATTTATTATATAATTATATATTATGTATTATATAATTATATAATTATATA TTATGTATTATATAATTATATATTATGTATTATATAATTATATAATTATA TATTATGTATTATATAATTATATATTATTTATTATATAATTATATAATTA TATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAAT TATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATAATTATATATTATTTATTACA TAAATATATATTATTTATTACATAAGTATATATCACTTATTATATAATTG CATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTG TATATAGTTATTTATTATATAATTGTATATAGTTATTTATTATATAATTC TATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHG4B_chr5_87168_194966	100816	G G	GAAAAGCC others(629): Show GAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATC CATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTA ATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTT GTGAGGTTAATCCATATAAAGCCCTGGACAAAGTCTGTAGGGGAGAGACT GTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAG ACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAACCCTGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0035 a0035	a0035c0060 a0035c0060	a0035c0060t0020 a0035c0060t0020	a0035c0060t0020g0188 a0035c0060t0020g0188	1	210	0.0048	636	c.45+ others(651): Show c.45+8545_45+8546insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTA GGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGACAAAGTCT GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAG CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAACCCTGG AAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101564	T T	TGTAGGGG others(629): Show TGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAA GTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAA AAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTG GAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCT CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATAT AAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCA TATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAAT CCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTT AATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAG GTAAATCCATATAAAGCTCTGGAAAAAGCCCGTAGGGGAGAGACTGTTGT GAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGT TGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0015 a0015	a0015c0077 a0015c0077	a0015c0077t0053 a0015c0077t0053	a0015c0077t0053g0181 a0015c0077t0053g0181	1	210	0.0048	636	c.45+ others(651): Show c.45+9312_45+9313insTAATCCATATAAAGCCCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATA TAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCC ATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAA TCCATATAAAGCTCTGGAAAAAGCCCGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTAAATCCATATAAAGCCCTGGAAAAAGCCCGTAGGGGAGAGACTGTTG TGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(629): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATGTGTATATATATATATGTATATATATATATATATTATATATGCA TATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCT GTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCA TGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0006 a0009c0006t0006	a0009c0006t0006g0304 a0009c0006t0006g0304	1	320	0.0031	636	c.98- others(651): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATGTATATATATATGTG TATATATATATATGTATATATATATATATATTATATATGCATATTATGTT TAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTTAGACCC CATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGTTAGGAA CTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTCACTGTC CAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP1CA_chr11_67393183_67406858	67403714	G G	GGAACTGG others(629): Show GGAACTGGCTTCCTGCTCTGGGACTCAGTTTCCCCCGTGCAGCAGGGGCT GGGCAAGTCCAAGGAGAGGTGGGGGTACCCACCTGTGACATGAAGGCCTC CTCCTGCAGCTGCGCGGGGGGGATGGCTCGAAGGGCTCCCAGTGTCTCCA GGAGGCCAGGGCAGGCCCCTCGCTGCTCTGCAGTGCCCAGCGCCAGGCGC ACCAGTGTCAGCCCCACACGGAACAGTACTCTGGCACCTGCAGGCCGGGG GCTTATTCACTGGGAGGCCGGCCCTGCCCCTCCACAGTTCTGCACCCAAA CCTGCCCTCAGCCATATGCCTCCCACTCTCCTGCAGCTCTGCCCTCCCCG GTTCAGGAACAATGACAGAGGGTGGAGTTGCATTTCGGGTAACACAGGCC GCTGTACTGGCCAAGTTAGCCTCAAGAGCCACAGATGCTTTGGGGAAGAG TTACTATCTTGTGAATTTGGTTACTGTCGCCTCCCATCCCCACCCCCGCC AAAATGAAGGTCTTGATCACTTGATGCTCAGATGCCATCCATATCTGGAG CCAGCAAGCACCCAGCAGGTGCCTGTGGGCTCCGGGGAGGAGCACCTCCT ACCCTCCCTGAGCCAGTCAGGCCTCCATGTGCTATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	378	0.0027	636	c.-19 others(647): Show c.-1933_-1932insTCATAGCACATGGAGGCCTGACTGGCTCAGGGAG GGTAGGAGGTGCTCCTCCCCGGAGCCCACAGGCACCTGCTGGGTGCTTGC TGGCTCCAGATATGGATGGCATCTGAGCATCAAGTGATCAAGACCTTCAT TTTGGCGGGGGTGGGGATGGGAGGCGACAGTAACCAAATTCACAAGATAG TAACTCTTCCCCAAAGCATCTGTGGCTCTTGAGGCTAACTTGGCCAGTAC AGCGGCCTGTGTTACCCGAAATGCAACTCCACCCTCTGTCATTGTTCCTG AACCGGGGAGGGCAGAGCTGCAGGAGAGTGGGAGGCATATGGCTGAGGGC AGGTTTGGGTGCAGAACTGTGGAGGGGCAGGGCCGGCCTCCCAGTGAATA AGCCCCCGGCCTGCAGGTGCCAGAGTACTGTTCCGTGTGGGGCTGACACT GGTGCGCCTGGCGCTGGGCACTGCAGAGCAGCGAGGGGCCTGCCCTGGCC TCCTGGAGACACTGGGAGCCCTTCGAGCCATCCCCCCCGCGCAGCTGCAG GAGGAGGCCTTCATGTCACAGGTGGGTACCCCCACCTCTCCTTGGACTTG CCCAGCCCCTGCTGCACGGGGGAAACTGAGTCCCAGAGCAGGAAGCCAGT TC	PPP1CA	ENSG00000172531.16	transcript	ENST00000376745.9	protein_coding		1857		chr11	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(629): Show AGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTAATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0156 a0002c0004t0005g0156	1	340	0.0029	636	c.227 others(653): Show c.227+3604_227+3605insCATGACTTGGGATGCTGGGGGGCAGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCC TTGTAATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTT CTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(629): Show AGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01070.hp2 others(15): Show HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01496.hp1 HG02015.hp2 HG02148.hp1 HG02280.hp1 HG02602.hp2 HG03490.hp2 HG03492.hp1 HG03834.hp2 HG04184.hp1 NA18983.hp1 NA18990.hp1 NA19012.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0005 a0002c0004t0012 a0002c0004t0017 others(4): Show a0002c0004t0005 a0002c0004t0012 a0002c0004t0017 a0002c0007t0005 a0002c0007t0007 a0002c0007t0012 a0002c0007t0040	a0002c0004t0005g0130 a0002c0004t0005g0150 a0002c0004t0005g0158 others(15): Show a0002c0004t0005g0130 a0002c0004t0005g0150 a0002c0004t0005g0158 a0002c0004t0005g0169 a0002c0004t0012g0009 a0002c0004t0017g0144 a0002c0004t0017g0145 a0002c0004t0017g0159 a0002c0007t0005g0116 a0002c0007t0005g0136 a0002c0007t0005g0163 a0002c0007t0005g0164 a0002c0007t0005g0165 a0002c0007t0007g0161 a0002c0007t0007g0162 a0002c0007t0012g0033 a0002c0007t0012g0227 a0002c0007t0040g0166	18	340	0.0529	636	c.227 others(653): Show c.227+3604_227+3605insCATGACTTGGGATGCTGGGGGGCAGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCC TTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG GGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTT CTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(629): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0304 a0001c0008t0004g0304	1	340	0.0029	636	c.227 others(653): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTT CTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PTPRH_chr19_55176247_55214501	55208082	A A	AGGGGGCT others(629): Show AGGGGGCTGGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGG GTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGA GTCTGAGGGAGGAGGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGT AGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGT CTGGACTCCTGGGTCCTGAGGGAGGAGGGGGCCTGGGGGTCTCGACCTCT GGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGG AGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCC TGGGGGCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCTCGACCTCTGG TTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAG GGGCTGGGGTCTGGACTCCTGGGTCCTGAGGGAGTAGGGGCTGGGGGTCC TGGATTCCTGGGTCCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGGTCTCGACCTCTGGTTTGAGGGAGGAG AGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0166 a0007c0012t0001g0166	1	378	0.0027	636	c.52- others(649): Show c.52-884_52-883insCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCC AACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGGACCCAGGA ATCCAGGACCCCCAGCCCCTACTCCCTCAGGACCCAGGAGTCCAGACCCC AGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCC TCAAACCAGAGGTCGAGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGC CCCCAGGCCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAG CCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTC AAACCAGAGGTCGAGACCCCCAGGCCCCCTCCTCCCTCAGGACCCAGGAG TCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAG CCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCCTCCTCCCT CAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTC GAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCCAGC CCCC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(629): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	308	0.0033	636	c.-75 others(655): Show c.-758+6953_-758+6954insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679038	T T	TATAAATA others(629): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	308	0.0033	636	c.-75 others(655): Show c.-758+6791_-758+6792insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679065	T T	TATAAATA others(629): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG01169.hp2 others(1): Show HG00323.hp1 HG01168.hp1 HG01169.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0113 a0001c0001t0001g0159 a0001c0001t0003g0006 a0001c0001t0001g0113 a0001c0001t0001g0159 a0001c0001t0003g0006	4	308	0.0130	636	c.-75 others(655): Show c.-758+6764_-758+6765insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0262 a0002c0001t0001g0262	1	378	0.0027	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATCCATC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0339 a0001c0002t0001g0339	1	378	0.0027	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0175 a0001c0008t0001g0175	1	378	0.0027	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAC CCATCCATCCATCCACCCACCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19030.hp2 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0270 a0001c0002t0002g0271	2	378	0.0053	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCC ATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG06807.hp1 HG02559.hp1 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0178 a0001c0008t0001g0182 a0001c0008t0001g0178 a0001c0008t0001g0182	2	378	0.0053	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCC ATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(629): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0043 a0001c0006t0001g0043	1	378	0.0027	636	c.937 others(653): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG03453.hp1 others(3): Show HG01109.hp2 HG02109.hp2 HG03453.hp1 HG03486.hp2 NA18522.hp2 NA21309.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0005 a0003c0003 a0006c0005	a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 others(1): Show a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0006c0005t0003	a0003c0003t0001g0236 a0003c0003t0001g0281 a0003c0003t0001g0349 others(3): Show a0003c0003t0001g0236 a0003c0003t0001g0281 a0003c0003t0001g0349 a0003c0003t0004g0412 a0003c0003t0005g0136 a0006c0005t0003g0280	6	454	0.0132	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAGCTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTAA TATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01070.hp1 others(77): Show HG00423.hp1 HG00544.hp1 HG01070.hp1 HG01192.hp2 HG01258.hp1 HG01346.hp1 HG01884.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03927.hp1 HG04115.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18955.hp1 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19012.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0016 a0017	a0001c0001 a0001c0004 a0001c0029 others(14): Show a0001c0001 a0001c0004 a0001c0029 a0002c0002 a0002c0028 a0003c0003 a0003c0010 a0004c0009 a0004c0012 a0004c0014 a0005c0007 a0005c0013 a0006c0005 a0006c0026 a0007c0008 a0016c0025 a0017c0027	a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 a0001c0029t0001 a0002c0002t0001 a0002c0002t0004 a0002c0028t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0006 a0003c0010t0001 a0004c0009t0003 a0004c0012t0003 a0004c0014t0003 a0005c0007t0001 a0005c0007t0002 a0005c0013t0001 a0006c0005t0003 a0006c0026t0003 a0007c0008t0002 a0016c0025t0001 a0017c0027t0001	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0272 others(72): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0272 a0001c0001t0001g0292 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0368 a0001c0001t0002g0083 a0001c0004t0004g0411 a0001c0029t0001g0106 a0002c0002t0001g0250 a0002c0002t0004g0410 a0002c0028t0003g0124 a0003c0003t0001g0005 a0003c0003t0001g0016 a0003c0003t0001g0024 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0131 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0175 a0003c0003t0001g0186 a0003c0003t0001g0203 a0003c0003t0001g0213 a0003c0003t0001g0215 a0003c0003t0001g0218 a0003c0003t0001g0224 a0003c0003t0001g0229 a0003c0003t0001g0233 a0003c0003t0001g0240 a0003c0003t0001g0283 a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0307 a0003c0003t0001g0335 a0003c0003t0001g0346 a0003c0003t0001g0350 a0003c0003t0001g0358 a0003c0003t0001g0373 a0003c0003t0001g0393 a0003c0003t0001g0402 a0003c0003t0001g0418 a0003c0003t0002g0068 a0003c0003t0002g0069 a0003c0003t0002g0081 a0003c0003t0006g0228 a0003c0003t0006g0232 a0003c0003t0006g0300 a0003c0010t0001g0010 a0003c0010t0001g0102 a0003c0010t0001g0114 a0003c0010t0001g0116 a0004c0009t0003g0341 a0004c0012t0003g0340 a0004c0012t0003g0342 a0004c0012t0003g0401 a0004c0014t0003g0103 a0004c0014t0003g0105 a0004c0014t0003g0125 a0005c0007t0001g0173 a0005c0007t0001g0357 a0005c0007t0002g0065 a0005c0013t0001g0112 a0005c0013t0001g0117 a0005c0013t0001g0126 a0006c0005t0003g0132 a0006c0005t0003g0359 a0006c0026t0003g0104 a0007c0008t0002g0078 a0016c0025t0001g0113 a0017c0027t0001g0107	80	454	0.1762	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTAA TATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGT TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02280.hp1 HG02451.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0231 a0003c0003t0001g0195 a0001c0001t0001g0231 a0003c0003t0001g0195	2	454	0.0044	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTAA TATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAGAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0279 a0003c0003t0001g0279	1	454	0.0022	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTCTTTTTTAA TATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG TTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0273 a0001c0001t0014g0273	1	454	0.0022	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT GAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATC TCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTC AGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTAA TTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGG CCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTG CCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTTAA TATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(629): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGT TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTTTT TTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCAAT CTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGGCT CAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGCTA ATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGG TCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0133 a0004c0009t0003g0133	1	454	0.0022	636	c.684 others(651): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGAT CTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCTA ATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTG GCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGT GCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTAA TATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACTTG GGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(629): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCACCCG TTCCCCCTCCCCCTCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0045 a0001c0001t0033g0045	1	150	0.0067	636	c.77- others(653): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCC CACCCGTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTTTCCCTTCCCCTCC CCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC45A4_chr8_141202174_141313288	141203481	A A	AGAGACCG others(629): Show AGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGGCGTT GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGCGAGAGAGGAGGCGGGGGTT GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGAG AGTGAGGGGAGAGAGAGACCGTGGACGAGAGGGAGAGGGAGACCGTGGAG AGAGAGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGGGAGAGAG GGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGAGACCGTGGAGAGAGGGA GAGGGAGACGTGGAGAGAGACGAGAGAGAGAGGGAGAGAGAGAGAGAGGG AGAGAGGGAGAGGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGA GAGGAGAGAGGAGAGAGGGGAGAGGAGAGAGGGAGAGAGAGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGTGGGAGAGA GGGAGAGAGGAGAGAGGGGAGAGAGAGGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGAGAGAGGGAGCCCGC GGGCCGCGAGTGCGACGAGAGGGAGAGAGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0156 a0002c0001t0001g0156	1	188	0.0053	636	c.80 others(647): Show c.8090_*8091insCCTCTCTCCTCTCTCCCTCTCGTCGCACTCGCGG CCCGCGGGCTCCCTCTCTCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCCCCTCTCTCTCCCCTCTCTCCTCTCT CCCTCTCTCCCACTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCTCTCCCT CTCTCCCTCTCTCTCTCTCTCCCTCTCTCCTCTCCCCTCTCTCCTCTCTC CTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCCCTCCTCTCCCTC TCTCCCTCTCTCTCTCTCTCCCTCTCTCTCTCGTCTCTCTCCACGTCTCC CTCTCCCTCTCTCCACGGTCTCTCTCTCCCTCTCTCTCTCTCTCCCTCTC TCCCTCTCTCCCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCTC TCTCTCCACGGTCTCCCTCTCCCTCTCGTCCACGGTCTCTCTCTCCCCTC ACTCTCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCAACCCCCGCCTCCTCTCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCAACGCCGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTC TC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3692		chr8	TogoVar
SLC6A18_chr5_1220381_1251189	1238245	G G	GTCAGGTT others(629): Show GTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGAC TCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGT CAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01358.hp1 HG01346.hp1 HG01358.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0141 a0001c0009t0002g0147 a0001c0009t0002g0141 a0001c0009t0002g0147	2	456	0.0044	636	c.732 others(651): Show c.732+243_732+244insGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG GGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCCTC AGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATC AGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGG GCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGGGCCTGGAGGACT CAGGAAAGACATCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG GGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGG GCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTC AGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATC AGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGG GCCTGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(629): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGGGGGGAGGAGGGAGGGGGAGGGGAG GGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGG AGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	636	c.12 others(647): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCT TCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCT CCCCTCCCCTCCCCCTCCCTCCTCCCCCCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCT CCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCC TCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCC CCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTT CCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCC CCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCA CCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCC TCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(629): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGCTGGTCTCAGTGGCTCATGCCTGTAATACTTGCATATCTTGGGATGG CAAGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAA CACACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGC ATGCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGA GCCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCA GCCAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCC AACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCA TTTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATT TATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGAT TTTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02257.hp1 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0123 a0002c0007t0001g0132 a0002c0007t0001g0123 a0002c0007t0001g0132	2	150	0.0133	636	c.531 others(655): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGTATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GGGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGG TATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTC CTGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(629): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAG GCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGAC AGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0010 a0001c0008t0001g0010	1	356	0.0028	636	c.245 others(653): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAG TGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTT TTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTG TGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642198	G G	GGGGGGGG others(629): Show GGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	636	c.65 others(647): Show c.6515_*6516insAGGCAACTCCACCCCTGCTGGGCCCCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTG GGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACCCCATCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4416		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	636	c.64 others(647): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTG GGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGGTGGAG TTGCCTGTGGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	636	c.64 others(647): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCACCACAGG CAACTCCACCCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCCGCTGGGCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	636	c.64 others(647): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	636	c.64 others(647): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	422	0.0024	636	c.64 others(647): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	636	c.64 others(647): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTG GGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGTGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTG CCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	422	0.0024	636	c.64 others(647): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCC AGGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGG CACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCACTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	636	c.64 others(647): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)