Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(694): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATATAAATATAAATATATAAATATATATATATAATTATATATATATAT TTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTT CTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATAT ATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATA TG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19030.hp1 HG02818.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0125 a0001c0001t0001g0126	2	312	0.0064	701	c.293 others(720): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATAAAAAAC CAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATATAAAT ATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCCTC TGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGG TTTTATATATATATTTATATATTTATATAAATATAAATATATAAATATAT ATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATA TATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(694): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATAAAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATATAAATATAAATATATAAATATATATATATAATTATATATATATAT TTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTT CTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATAT ATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATA TG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	312	0.0032	701	c.293 others(720): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATAAAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGT CAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAG TCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATATAT ATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATAAAAAAC CAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATATAAAT ATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCCTC TGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGG TTTTATATATATATTTATATATTTATATAAATATAAATATATAAATATAT ATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATA TATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(694): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATATAAATATATATA AATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAGAT AAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTA TATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATA TATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATA TATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAA ATATATAAATATAAATATATAAATATATATATATAATTATATATATATAT TTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTT CTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATAT ATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATA TG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	312	0.0032	701	c.293 others(720): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATT AACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATA AAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTAT ATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATA TAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAAAT ATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCCTC TGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGG TTTTATATATATATTTATATATTTATATAAATATAAATATATAAATATAT ATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATA TATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(694): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATATATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAG ATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCAT TATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAA TATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATA TATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAA ATATATAAATATAAATATATAAATATATATATATAATTATATATATATAT TTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTT CTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATAT ATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATA TG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	312	0.0032	701	c.293 others(720): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TATATATATATAAATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGA TTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGA TAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATT ATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATATA TAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAAAT ATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCCTC TGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGG TTTTATATATATATTTATATATTTATATAAATATAAATATATAAATATAT ATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATA TATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(694): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATATATATATAAATATATATAAATATATATAAATATATA TAAAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAG ATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCAT TATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAA TATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATATA TATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAA ATATATAAATATAAATATATAAATATATATATATAATTATATATATATAT TTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTT CTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATAT ATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATA TG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	312	0.0032	701	c.293 others(720): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATATATATATAAATATATATAAATATATATAAATATATATAAAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGA TTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGA TAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATT ATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATATA TAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAAAT ATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCCTC TGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGG TTTTATATATATATTTATATATTTATATAAATATAAATATATAAATATAT ATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATA TATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(694): Show GTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTA GTGGTGGTGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTG GTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGT GGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTG GTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGT GCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTGT TC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0339 a0001c0001t0002g0339	1	384	0.0026	701	c.160 others(718): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCAT TACCACTACCACCACGACTACCACCACCACCACCACTACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCAT CACCACCACCACCATCACCACCACTACCACCATCACCACCATCACCACCA TCACCACCACCACCACCACCACCACCACCACTACTGCCACCGCCGCCACC ATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACTAC TGCCACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCA CCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACTACT GCCACCGCCGCCACCATCACCACCACCACCATCACCACCACCACCATCAC CACCATCACCACCATCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158668239	G G	GCCCCCCG others(694): Show GCCCCCCGTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCTACCTTG TGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGT CCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA CAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCC TCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTC TTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCC GC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	378	0.0027	701	c.147 others(720): Show c.1479+3274_1479+3275insGCGGAGGGACCCAGGGTCGGTAAGGA AGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGGTAGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTG TGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCG GAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAACGGGGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(694): Show TATATTCCATACATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATACATACATGGTATATATTCCTATATATACA TACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATA TATACATACATGGTATATATTCCATATATATATACATACATGGTATATAT TCCATATATATATACACATACATGGTATATATTCCATATATACATACATG GTATATATTCCTATATATACATACATGGTATATATTCCAATATATACATA CATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATA TATACATACATGGTATATATTCCATATATATACATACATGGAATATATAT ATTCCATACATGGAATATATATATTCCATATATACATATATATATTCCAT ATATACACATATATATATTCCATATATACACATATACATGGAATATATAT CTGTATATATATGGAATATATATATGTATATATATGAAATATATATGTAT ATGTATTTATATTATGTATTTATATTATAAATATATATTATGTATATATA TTTATATTATAAATATATATTATGTATATATATTTATAATATAAATATAT ATTATGTATATATATTTATATTATAAATATATATTATGTATATATATTTA TA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	66	0.0152	701	c.474 others(720): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATATATATACATACATGGTATATATTCCATATATACATACATGGT ATATATTCCTATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATACATACATGGTATATATTCCATATATAT ATACATACATGGTATATATTCCATATATATATACACATACATGGTATATA TTCCATATATACATACATGGTATATATTCCTATATATACATACATGGTAT ATATTCCAATATATACATACATGGTATATATTCCATATATATACATACAT GGTATATATTCCATATATATATACATACATGGTATATATTCCATATATAT ACATACATGGAATATATATATTCCATACATGGAATATATATATTCCATAT ATACATATATATATTCCATATATACACATATATATATTCCATATATACAC ATATACATGGAATATATATCTGTATATATATGGAATATATATATGTATAT ATATGAAATATATATGTATATGTATTTATATTATGTATTTATATTATAAA TATATATTATGTATATATATTTATATTATAAATATATATTATGTATATAT ATTTATAATATAAATATATATTATGTATATATATTTATATTATAAATATA TATTATGTATATATATTTATAATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NOC4L_chr12_132139457_132157468	132149664	C C	CACACCAC others(694): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCACTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCT CG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	294	0.0034	701	c.901 others(716): Show c.901+769_901+770insACACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCACTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCGGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136528441	A A	AGGGGGGG others(694): Show AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACAGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGG GGGTGGGCAGGGACAGTGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACA GTGGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACAGTG GGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGG TGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGG CAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGG GGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGAGGGGGAT GGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGG ACAGTGGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACA GT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0100 a0001c0006t0002g0100	1	324	0.0031	701	c.141 others(718): Show c.141-4463_141-4462insACTGTCCCTGCCCATCCCCCCCGCACTG TCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGC CCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCA CTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCC TGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCGCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCA CTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCAC CCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCT CACCGTCCCTGCCCATCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTACT others(694): Show CTTGTACTACAGTATAGTATACTATACTACAGTATAGTATACTATACTAC AGTATAGTATACTATACTACAGTATAGTATACTATACTACAGTATAGTAT ACTATACTACAGTATAGTATACTATACTACAGTATAGTATACTATACTAC AGTATAGTATACTATACTACAGTATAGTATACTATACTACAGTATAGTAT ACTATACTATACTACAGTATAGTATACTATACTATACTACAGTATAGTAT ACTATACTATACTACAGTATAGTATACTATACTATACTACAGTATAGTAT ACTATACTATACTACAGTATAGTATACTATACTATACTACAGTATAGTAT AGTCTACTATACTACAGTATAGTATAGTCTACTATACTACAGTATAGTAT AGTCTACTATACTACAGTATAGTATAGTCTACTATACTACAGTATAGTAT AGTCTACTATACTACAGTATAGTATAGTCTACTATACTACAGTATAGTAT AGTCTACTATACTACAGTATAGTATAGTCTACTATACTACAGTATAGTAT AGTCTACTATACTACAGTATAGTATAGTCTACTATACTACAGTATAGTAT AGTCTACTATACTACAGTATAGTATAGTCTACTATACTACAGTATAGTAT AGTCTACTATACTACAGTATAGTATAGTCTACTATACTACAGTATAGTAT AG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0099 a0005c0006t0011g0099	1	318	0.0031	701	c.-27 others(720): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTATAG TATACTATACTGTAGTATAGTATAGTATACTATACTGTAGTATAGTATAG TATACTATACTGTAGTATAGTATAGTATACTATACTGTAGTATAGTATAG TATACTATACTGTAGTATAGTATAGTATACTATACTGTAGTATAGTATAC TATACTGTAGTATAGTATACTATACTGTAGTATAGTATACTATACTGTAG TATAGTATACTATACTGTAGTATAGTATACTATACTGTAGTATAGTATAC TATACTGTAGTATAGTATACTATACTGTAGTATAGTATACTATACTGTAG TATAGTATACTATACTGTAGTACAA	OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4			chr17	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(694): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGT GAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATG GTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGAC AGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGAT GATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGG TGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGAT GAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATG GTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGG TGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGAC TGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTGGTGACGACAGTGA GTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCA TGGTGATGGTGATGATGATGAGTGGGGATGGTGGTGATGGTGACTGTTGT GATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACGACAGTGAGTGGTG AA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00609.hp2 others(58): Show HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02615.hp2 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04204.hp2 NA18939.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA19000.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19087.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0009 a0011 a0013 a0014 a0015 a0016	a0001c0001 a0003c0003 a0003c0017 others(7): Show a0001c0001 a0003c0003 a0003c0017 a0004c0004 a0009c0011 a0011c0022 a0013c0018 a0014c0019 a0015c0020 a0016c0015	a0001c0001t0001 a0003c0003t0001 a0003c0017t0001 others(7): Show a0001c0001t0001 a0003c0003t0001 a0003c0017t0001 a0004c0004t0001 a0009c0011t0001 a0011c0022t0001 a0013c0018t0001 a0014c0019t0001 a0015c0020t0001 a0016c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0020 others(52): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0017t0001g0045 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0004t0001g0188 a0004c0004t0001g0189 a0009c0011t0001g0174 a0009c0011t0001g0175 a0011c0022t0001g0196 a0013c0018t0001g0046 a0014c0019t0001g0047 a0015c0020t0001g0173 a0016c0015t0001g0041	61	380	0.1605	701	c.255 others(720): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCATCACC ATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAACAATCA CCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCACCATCACCATC ACCACCATCACCATCACAACAGTCACCATCACCACCATCATCCCCACTCA TCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCAT CACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACC TTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(694): Show GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCTCCTACC CCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTAC CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	376	0.0027	701	c.15 others(712): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(694): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTG GGAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTG GGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTG GGAGACGGTGGGAGATGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGA CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	701	c.-25 others(712): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCGTCTCCTGCCACC TCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCCACCT CCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTTCCCA CCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCA CCATCTCCCACCGTCTCCCACCACCTCCCGCCATCTCCCACCACCTCCCG CCGTCTCCCACCACCTCCCACCATCTCCCACCGTCTCCCACCACCTCCCA CCATCTCCCACGACCTCCCACCATCTGCCAGTGTCTCCCACTACCTCCCA CCACATCCCACCTTCTCCGTCTCCCACCACCTCCCACCACCTCCCACCGT CTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCAC CTCTCACCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTAC CTCCCACCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGT CTCCTACCACCTCCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGT CTCCCACCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGT CTGCCACTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCACCAT CTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGGAC others(694): Show AGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGC ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGCACAGG GCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGCACAGGGC GGGAGGGGCACAGGGCGGGAGGGGGGACAGGGCGGGAGGGGGACAGGGCG GGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGGGAGGGGCACAGGGCGGGAGGGGCACAGGGCGGGAG GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAGG GCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG GGAGGGGCACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAG AG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	133	0.0075	701	c.351 others(720): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTGCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCC TCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC TCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTGCCCCTCCCGCC CTGTGCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCCTCCCGCCCTGTGCCCCTCCCGCCCTGTGCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTGCCCCTCCCGCCCTGTCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTGCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(694): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTC CCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCC TT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	150	0.0067	701	c.77- others(718): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCC CTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCC TTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(694): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCC CCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC CTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCC TT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0028 a0001c0001t0057g0028	1	150	0.0067	701	c.77- others(718): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTC CCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCC TTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(694): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTC CCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCC TG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	150	0.0067	701	c.77- others(718): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCAT CCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCC TTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(694): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCC CCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC CTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTTCCC TT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	158	0.0063	701	c.22+ others(718): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCCTCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTC CCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCCCTCCCCC TTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(694): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTC CCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCC TT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	158	0.0063	701	c.22+ others(718): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCC CTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCT CCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCC TTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(694): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCC CCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC CTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCC TT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	158	0.0063	701	c.22+ others(718): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTC CCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCC TTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(694): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTC CCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCC TG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0122 a0001c0001t0059g0122	1	158	0.0063	701	c.22+ others(718): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCAT CCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCC TTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(694): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATATTATATATGATTATAAAATATAAT TATATATTATATATGATTATAAAATATAATTATATATGATTATAAAATAC AATTATATATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0067 a0001c0001t0011g0067	1	268	0.0037	701	c.75 others(712): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATATTATATATGATTATAAAATAT AATTATATATTATATATGATTATAAAATATAATTATATATATTATATATG ATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATACAATTATATATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(694): Show CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCT CCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCC CTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTCTGCCCTCCC CTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTAT CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTC CCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCGTCCCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCC CTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTC CT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	114	0.0088	701	c.-25 others(720): Show c.-25-12108_-25-12107insCCCTCTCCCCTCCCCTCTCCCCTCCC CTTCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCC CCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTC TGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCC CTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCGTCCCCCCCTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCCC TCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CTCCCTTTCCTTCTCCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(694): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCCTCCTT CTCCTCTCCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCT CCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTC TTCCTCCTCCTCCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCG CTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCC TCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCC CTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCCTT CCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCC TCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTC CTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTTCCTCCTCCTCCCCTTCT CT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	384	0.0026	701	c.424 others(718): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCC CTCCCTCCTTCTCCTCTCCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCC TCTTCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCC TCCCCTTCTCTTCCTCCTCCTCCCCCTTCTCTTCCTCCTCCTCCCCTTCC TCCTCCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTC TTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCC TCCTCCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCT CCTCCCCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTC CTCCTCCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCC TCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTTCCTCCTC CTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(694): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCT GGTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGAT TAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATC CCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATGCCCC ATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCT GGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATACCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATC CCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCC AC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03516.hp2 HG02717.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0001 a0001c0011t0001 a0001c0004t0001 a0001c0011t0001	a0001c0004t0001g0056 a0001c0011t0001g0230 a0001c0004t0001g0056 a0001c0011t0001g0230	2	344	0.0058	701	c.141 others(720): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCAC CCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCA CCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCTGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAA TCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACC CCTGAATTAATCCCCCCACCACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(694): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT AC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0098 a0001c0001t0071g0098	1	174	0.0058	701	c.41- others(718): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL8_chr22_50013575_50063298	50028631	T T	TACCCTCG others(694): Show TACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCCACACACCCTCGTAAAGACCCCCATCACACCATCCTA AAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGAC CCCACACACCCTCGTAAAGACCCCCATCACACCATCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACACCCT CGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCCATCACAC CATCCTAAAGACCCCCACACACACTCGTAAAGACCCCCATGACACCGTCC TGAAGACCCCACACACCCTCGTAAAGACCCCCATCACACCATCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCAC AC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	224	0.0045	701	c.225 others(720): Show c.2251+1798_2251+1799insGTGTGGGGGTCTTTAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGGT CTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTCATGGGGGTCTTTAC GAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGG TGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGAC GGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGA TGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGG TCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTT ACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGT GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGGTCTTTACGAGGGT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870458	C C	CATCACAC others(694): Show CATCACACACCACACACACCACACACACCCCACACACACCACACACACAC ATCACATACCACACACCCGACACACGCCACACACACCATACACCCCCCAC ACACCACACCCCACACACCATACACACCACACACCCACACACACCACACA CCCCACACACACCACACCCATACACACCACACCCCACACACACCACACAC CCACACACACCACACCCCACACACACCACACAAACCACACACCCCACACA CACCACACACCCCCACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCACACACACCACA CCCCACACACACCACACAACCACACACCCTACACACCCCACACACACCAC ACACCACACACACCCCACACACACCACACCCACACACACCACACACCCCC CACACACACCACACCCCATACACACCACACCCCACACACACCACCCCATA CACACCACACACCCCACACACACCACACACCCCACACACACCACCCCATA CACACCACACCCCCCACACACCACACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCATA CACACCACACACCCCACACACCACACACACACATCACATACCACACACAC AT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	338	0.0030	701	c.35 others(720): Show c.35+21725_*35+21726insATCACACACCACACACACCACACACA CCCCACACACACCACACACACACATCACATACCACACACCCGACACACGC CACACACACCATACACCCCCCACACACCACACCCCACACACCATACACAC CACACACCCACACACACCACACACCCCACACACACCACACCCATACACAC CACACCCCACACACACCACACACCCACACACACCACACCCCACACACACC ACACAAACCACACACCCCACACACACCACACACCCCCACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACACCCACACACACCACACCCCACACACACCACACAACCACACAC CCTACACACCCCACACACACCACACACCACACACACCCCACACACACCAC ACCCACACACACCACACACCCCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACCCCATACACACCACACACCCCACACACACCACA CACCCCACACACACCACCCCATACACACCACACCCCCCACACACCACACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCATACACACCACACACCCCACACACCACACA CACACATCACATACCACACACACAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(694): Show TATAATAATATAATATATATTATTATATATAATAATATAATATATATTAT TATATATGATTATATATAATAATATAATATATATTATTATATATAATCAT ATATAATAATATAATATATATTATTATATATAATCATATATAATAATATA ATATATATTATTATATATAATCATATATAATAATATAATATATATTATTA TATATAATCATATATAATAATATAATATATTATTATATATAATCATATAT AATCATATATTATATATTATTATATATAATCATATATAATAATATATTAT ATATGATTATATATGATCATATATAATAATATATTATATATGATTATATA TGATCATATATAATAATATAATATATATGATTATATATGATCATATATAA TAATATAATATATATGATTATATATGATCATATATAATAATATAATATAT ATTATTATATATGATCATATATAATAATATAATATATATTATTATATATG ATCATATATAATAATATAATATATATTATTATATATGATCATATATAATA ATATAATATATATTATTATATATGATCATATATAATAATATAATATATAT TATTATATATGATCATATATAATAATATAATATATATTATTATATATGAT TATATATAATAATATAATATATATTATTATATATTATTATATATTATTAT AA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0140 a0003c0004t0004g0140	1	238	0.0042	701	c.392 others(718): Show c.392+6154_392+6155insTTATAATAATATATAATAATATATAATA ATATATATTATATTATTATATATAATCATATATAATAATATATATTATAT TATTATATATGATCATATATAATAATATATATTATATTATTATATATGAT CATATATAATAATATATATTATATTATTATATATGATCATATATAATAAT ATATATTATATTATTATATATGATCATATATAATAATATATATTATATTA TTATATATGATCATATATAATAATATATATTATATTATTATATATGATCA TATATAATCATATATATTATATTATTATATATGATCATATATAATCATAT ATATTATATTATTATATATGATCATATATAATCATATATAATATATTATT ATATATGATCATATATAATCATATATAATATATTATTATATATGATTATA TATAATAATATATAATATATGATTATATATGATTATATATAATAATATAT TATATTATTATATATGATTATATATAATAATATATATTATATTATTATAT ATGATTATATATAATAATATATATTATATTATTATATATGATTATATATA ATAATATATATTATATTATTATATATGATTATATATAATAATATATATTA TATTATTATATATAATCATATATAATAATATATATTATATTATTATATAT AATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(694): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATATTATATATTATAAATAATATATAATATATATTATATATTATAAAT AATATATTATATATTATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATATATTATAAATAATATATTATATATTATA TTATAAATAATATATTATATATTATAAATAATATATTATATATAATATGT TA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0248 a0001c0001t0011g0248	1	302	0.0033	701	c.-1- others(718): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATATTATATATTATAAATAATATATAATATAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATATATTATAAATAATATATTATATATTATA TTATATATTATAAATAATATATTATATATTATATTATATATTATAAATAA TATATTATATATTATATTATAAATAATATATTATATATTATAAATAATAT ATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2336775	G G	GTGAGGAG others(694): Show GTGAGGAGGTGAGGAGTGAGGAGATGAGGAGGTGAGGAGTGAGGAGATGA GGAGGTGAGGAGGTGTGGATTGAGGAGGTGAGGAGTGAGGAGGTGAGGAG TGAGAAGGTGAGGAGGGAGGAGGTGAAGAGTGAGGAGGTGAGGTGAGGAG TTAGGAGGTGGGGAAGTGAGGAGGTGAGTGAGGAGGTGAGGAGTGAGGGG GTGAGGAGTTAGGTGGTGAGGAGTGAGGAGGTGAGGAGTGAGAATGTGAG AAATAAGGAGCTAAGGAGTAAGGAGGTGAGGAGTAAGGAGGTGAGGAATG ATGAGGTGAGGAGTGAGGAGGTGAGGAGGTGAGGAGTGAGGAGATGAGGA GGTGAGGAGTGAGGAGATGAGGAGGTGAGGAGTGAGGAGATGAGGAGGTG AGGAGGTGTGGATTGAGGAGGTGAGGAGTGAGGAGGTGAGGAGTGAGAAG GTGAGGAGGGAGGAGGTGAAGAGTGAGGAGGTGAGGTGAGGAGTTAGGAG GTGGGGAAGTGAGGAGGTGAGTGAGGAGGTGAGGAGTGAGGGGGTGAGGA GTTAGGTGGTGAGGAGTGAGGAGGTGAGGAGTGAGAATGTGAGAAATAAG GAGCTAAGGAGTAAGGAGGTGAGGAGTAAGGAGGTGAGGAATGATGAGGT GAGGGGTGAGGAGGTGAGGAGTGAGGAGATGAGGAGGTGAGGAGTGAGGA GA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03195.hp2 HG01255.hp2 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0017 a0002c0003t0004 a0002c0003t0017	a0002c0003t0004g0006 a0002c0003t0017g0284 a0002c0003t0004g0006 a0002c0003t0017g0284	2	290	0.0069	701	c.611 others(716): Show c.611+631_611+632insTCTCCTCACTCCTCACCTCCTCATCTCCTC ACTCCTCACCTCCTCACCCCTCACCTCATCATTCCTCACCTCCTTACTCC TCACCTCCTTACTCCTTAGCTCCTTATTTCTCACATTCTCACTCCTCACC TCCTCACTCCTCACCACCTAACTCCTCACCCCCTCACTCCTCACCTCCTC ACTCACCTCCTCACTTCCCCACCTCCTAACTCCTCACCTCACCTCCTCAC TCTTCACCTCCTCCCTCCTCACCTTCTCACTCCTCACCTCCTCACTCCTC ACCTCCTCAATCCACACCTCCTCACCTCCTCATCTCCTCACTCCTCACCT CCTCATCTCCTCACTCCTCACCTCCTCATCTCCTCACTCCTCACCTCCTC ACCTCCTCACTCCTCACCTCATCATTCCTCACCTCCTTACTCCTCACCTC CTTACTCCTTAGCTCCTTATTTCTCACATTCTCACTCCTCACCTCCTCAC TCCTCACCACCTAACTCCTCACCCCCTCACTCCTCACCTCCTCACTCACC TCCTCACTTCCCCACCTCCTAACTCCTCACCTCACCTCCTCACTCTTCAC CTCCTCCCTCCTCACCTTCTCACTCCTCACCTCCTCACTCCTCACCTCCT CAATCCACACCTCCTCACCTCCTCATCTCCTCACTCCTCACCTCCTCATC TCCTCACTCCTCACCTCCTCA	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	5/12			chr4	TogoVar
ZNF627_chr19_11592483_11624161	11613151	C C	CCCTTCCT others(694): Show CCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCC CCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTTCC CTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCC TCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCC CTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTC CTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTC CTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCTCCCTCCCCCCTC CCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTT CCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCC CCTCCTCTTCCCCTCTCCTCCCCTCCCCCCCTCCCCCTTCTCCCCTCTCC CCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTT CCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCC CCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCC CT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	322	0.0031	701	c.4-1 others(714): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTTCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCC TCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCTCCCTCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCC CCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCCTC CCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTC CCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTC CCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCC CCTTCCCCCTCACCTCCCT	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3			chr19	TogoVar
ABCB5_chr7_20610667_20762008	20668742	C C	CGGCCGGC others(695): Show CGGCCGGCCGCCCCGTCCGGGAGGTGTGGGGCGCCTCTGCCCGGCCGCCC CTACTAGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGG GAGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATC CGGGAGGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG GGAGGGGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGGGGTGGGGAGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp2 HG01928.hp1 HG01952.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0359 a0002c0012t0001g0360 a0002c0012t0001g0359 a0002c0012t0001g0360	2	360	0.0056	702	c.170 others(723): Show c.1707+10070_1707+10071insGGCCGCCCCGTCCGGGAGGTGTGG GGCGCCTCTGCCCGGCCGCCCCTACTAGGAAGTGAGGACCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCAGTCCGGGAGGGAGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTGGGGGGGGTCAGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCTGGCCAGCCGCCCCATCCGGGAGGGGGGTGGAGGGGTCAGCCCCCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGGGGTGGGGAGATCAGCCCCCCGCC TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCTGGCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC6_chr16_16144565_16228494	16172064	A A	AGTGGGTG others(695): Show AGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAATGGGTG GGATGCATAAATGAGTGAGTGGGATGGATAAATGGGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGGGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGA TGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGATGGATAAATGA GTGGGTGGGATAGATAAATGAGTGGGTGGGATGGATAAATGAGGGGGTGG GATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATG AGTGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTG GGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGAT GGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATGGAT AAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGA TGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAA TGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19002.hp1 HG00408.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0235 a0001c0001t0001g0191 a0001c0001t0001g0235	2	357	0.0056	702	c.278 others(721): Show c.2787+1219_2787+1220insCCATTTATCCATCCCACCCACCCATT TATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATC CCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCAC TCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCACTCAT TTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTAGCCAT CCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCA CTCATTTATCCATCCATCCCACCCACTCATTTATCCATCCCACCCACTCA TTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCA TCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCC ACCCACTCATTTATCTATCCCACCCACTCATTTATCCATCCCACCTCATT TATGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTATCCATC CCACCCACTCATTTATCCATCCCACCCACCCATTTATCCATCCCACTCAC TCATTTATGCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTAT CCATCCCACTCACTCATTTATGCATCCCACCCATTCATTTATCCATCCCA CCCACTCATTTAGCCATCCCACCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACOT13_chr6_24662077_24710046	24683759	T T	TTCTAATT others(695): Show TTCTAATTAGCCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTAATGTGAA AGGTCTTTCATCCCCAACCCTCTGAATGGCTAAAGGCAGGAAGCCTGAGC CCATGAACACAGATTTTTTTTTTTTTCCCTAAGACTGAAAGCTGAGACCC GGAGAGGTAGGGGCTCACAGGGGACAGAGAGACTGCTGGTGCAAGGGAGG AGCTGGCCTTTGGGGGTCAGGGCAGTCCGGGAGCTCCAGGAGACAGGGCC CCTGCTCTTGTGTTTGCAGTTGTACTGTGTCCACCTGGCTTGGGGGCTGG CTCCTGGAGCAGCGGCTCAGTGAATAAACAAATGAGTGCGTGTGTGCCAA ATCTGGGTTCATGTCTGGTGGTCCCCGTGAGGGAATGCAGAGGCAGGAGG ACCTGGTGGGGTCTCAGGAGCTGCCGTGCTGGGGGTTCCTGCCCCACCTC TGGGCTGAAGCTCCCAGAAGGCGAGGGACCGGCTCCTCCAGGGAGCAACT GTACAGGTCAAGGAGTCTGTTCCCAGCCCCTTCCATGGCTCCTCCCAGTA GGGGCTACTTGGGGAATTTCAGGTGTGGTGGCAGCCAGAGGGAAGGCGTT TCCGGGCCTTGAGAGGAGAGCTGTTCTCCAGAGTGGGACTAGGTCTGCTA ATACAGATGCAGCTCTTCCTGCAGGAGCTTCCTGGCCTCTCTCGATGATG TAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0228 a0001c0001t0024g0228	1	402	0.0025	702	c.82- others(719): Show c.82-14108_82-14107insTTTTTTTTTTTTTTTTTTTTTTTTTAAT GTGAAAGGTCTTTCATCCCCAACCCTCTGAATGGCTAAAGGCAGGAAGCC TGAGCCCATGAACACAGATTTTTTTTTTTTTCCCTAAGACTGAAAGCTGA GACCCGGAGAGGTAGGGGCTCACAGGGGACAGAGAGACTGCTGGTGCAAG GGAGGAGCTGGCCTTTGGGGGTCAGGGCAGTCCGGGAGCTCCAGGAGACA GGGCCCCTGCTCTTGTGTTTGCAGTTGTACTGTGTCCACCTGGCTTGGGG GCTGGCTCCTGGAGCAGCGGCTCAGTGAATAAACAAATGAGTGCGTGTGT GCCAAATCTGGGTTCATGTCTGGTGGTCCCCGTGAGGGAATGCAGAGGCA GGAGGACCTGGTGGGGTCTCAGGAGCTGCCGTGCTGGGGGTTCCTGCCCC ACCTCTGGGCTGAAGCTCCCAGAAGGCGAGGGACCGGCTCCTCCAGGGAG CAACTGTACAGGTCAAGGAGTCTGTTCCCAGCCCCTTCCATGGCTCCTCC CAGTAGGGGCTACTTGGGGAATTTCAGGTGTGGTGGCAGCCAGAGGGAAG GCGTTTCCGGGCCTTGAGAGGAGAGCTGTTCTCCAGAGTGGGACTAGGTC TGCTAATACAGATGCAGCTCTTCCTGCAGGAGCTTCCTGGCCTCTCTCGA TGATGTAATCTAATTAGCCTTTCT	ACOT13	ENSG00000112304.11	transcript	ENST00000230048.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(695): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT ACTATATATATTCTGTATATAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATTCTATATATAGAATATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATATAC AGAATATATATAGTATATATATTCTATATACAGAATATATATAGTATATA TATTCTGTATACAGAATATATAGTATATATATTCTGTATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATA TACAGAATATATATACTATATATATTCTATATATAGAATATATATATAGT ATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAG AATATATATAGTATATATATTCTGTATATAGAATATATATACTATATTAA TTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	236	0.0042	702	c.409 others(721): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATACAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATATACAGAATATATATAC TATATATATTCTATATACAGAATATATATACTATATATATATTCTATATA TAGAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATAT ATATTCTATATACAGAATATATATAGTATATATATTCTGTATATAGAATA TATATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGT ATATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATATATAT TCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(695): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT ACTATATATATTCTGTATATAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATTCTATATATAGAATATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATATAC AGAATATATATAGTATATATATTCTGTATACAGAATATATATAGTATATA TATTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATA TACAGAATATATATACTATATATATTCTATATATAGAATATATATATAGT ATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAG AATATATATAGTATATATATTCTGTATATAGAATATATATACTATATTAA TTC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	236	0.0042	702	c.409 others(721): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ACAGAATATATATACTATATATATTCTGTATATATACAGAATATATATAC TATATATATTCTATATACAGAATATATATACTATATATATATTCTATATA TAGAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATAT ATATTCTATATACAGAATATATATAGTATATATATTCTGTATATAGAATA TATATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGT ATATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATATATAT TCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(695): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT AGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATTCTATATATAGAATATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATATAC AGAATATATATAGTATATATATTCTATATACAGAATATATATACTATATA TATTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATA TACAGAATATATATACTATATATATTCTATATATAGAATATATATATAGT ATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAG AATATATATAGTATATATATTCTGTATATAGAATATATATACTATATTAA TTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	236	0.0042	702	c.409 others(721): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATAGTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATATACAGAATATATATAC TATATATATTCTATATACAGAATATATATACTATATATATATTCTATATA TAGAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATAT ATATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATA TATATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGT ATATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATATATAT TCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(695): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATATAT AGTATATATATTCTGTATATAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATTCTATATATAGAATATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATATAC AGAATATATATAGTATATATATTCTATATACAGAATATATATAGTATATA TATTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATA TACAGAATATATATACTATATATATTCTATATATAGAATATATATATAGT ATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAG AATATATATAGTATATATATTCTGTATATAGAATATATATACTATATTAA TTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG04184.hp1 HG02165.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0046 a0001c0001t0001g0057	2	236	0.0085	702	c.409 others(721): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATATACAGAATATATATAC TATATATATTCTATATACAGAATATATATACTATATATATATTCTATATA TAGAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATAT ATATTCTATATACAGAATATATATACTATATATATTCTGTATATAGAATA TATATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGT ATATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATATATAT TCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(695): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTGTATACAGAATATATAT AGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATTCTATATATAGAATATATATATAGTAT ATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATATAC AGAATATATATAGTATATATATTCTATATACAGAATATATATAGTATATA TATTCTGTATACAGAATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATA TACAGAATATATATACTATATATATTCTATATATAGAATATATATATAGT ATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAG AATATATATAGTATATATATTCTGTATATAGAATATATATACTATATTAA TTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0001 a0001c0005t0003g0001	1	236	0.0042	702	c.409 others(721): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATATTCTATATATA GAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTAT ATAGAATATATATACTATATATATTCTGTATATATACAGAATATATATAC TATATATATTCTATATACAGAATATATATACTATATATATATTCTATATA TAGAATATATATAGTATATATATTCTGTATATAGAATATATATAGTATAT ATATTCTGTATACAGAATATATATACTATATATATTCTGTATACAGAATA TATATACTATATATTCTGTATACAGAATATATATACTATATATATTCTGT ATATAGAATATATATACTATATATATTCTGTATATAGAATATATATAGTA TATATATTCTGTATATAGAATATATATACTATATATATTCTGTATATAGA ATATATATACTATATATATTCTGTATATAGAATATATATACTATATATAT TCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(695): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC CAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCT GCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACC CTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCCTCACCCTGC ACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCT GCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	268	0.0037	702	c.-37 others(713): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCT TCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCA TCTGCCCCCAACCCTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3664		chr5	TogoVar
ANKRD11_chr16_89262630_89495561	89341900	A A	ACCCACAG others(695): Show ACCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAA CAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCC ACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGC CCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATG GCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGT GCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGC ACCTCCTCCACGAACAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTC CACCCACAGCGGCCACAGCCCACGGCAGGAGTGCTGCACCTCCACCCACA GCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGC CACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCC ACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGC GGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATGGCAGGAG TGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGTGCTGCAC CTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCA CTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02559.hp2 others(5): Show HG01243.hp2 HG02258.hp1 HG02559.hp2 HG03041.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 NA20129.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0007 a0001c0022 others(2): Show a0001c0001 a0001c0007 a0001c0022 a0002c0002 a0012c0057	a0001c0001t0001 a0001c0007t0001 a0001c0022t0001 others(3): Show a0001c0001t0001 a0001c0007t0001 a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0012c0057t0001	a0001c0001t0001g0020 a0001c0007t0001g0092 a0001c0022t0001g0123 others(5): Show a0001c0001t0001g0020 a0001c0007t0001g0092 a0001c0022t0001g0123 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0002g0046 a0002c0002t0002g0047 a0012c0057t0001g0122	8	310	0.0258	702	c.-59 others(721): Show c.-59-24823_-59-24822insCAGTGGAGGTGCAGCACTCCCGCCGT GGGCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCT GTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGC TGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGG GCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGA GGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGC AGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGTGGAGGTGCAGCACTCC TGCCGTGGGCTGTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGG GCCGTGGCTGCTGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGT GGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCG CTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGT GGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGGCAGTGG AGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGAGGTGCAG CACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGCAGCACTC CCGCCGTGGGCCGTGGCCGCTGTGGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANXA2_chr15_60342151_60402986	60349993	C C	CAGGGGAA others(695): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 HG03579.hp2 HG02559.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0273	3	334	0.0090	702	c.838 others(717): Show c.838-797_838-796insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350065	C C	CAGGGGAA others(695): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGAGAGGGAGGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	334	0.0030	702	c.838 others(717): Show c.838-869_838-868insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTT GCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350083	G G	GAGGGGAA others(695): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	334	0.0030	702	c.838 others(717): Show c.838-887_838-886insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(695): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	334	0.0030	702	c.838 others(717): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144687669	T T	TGGCGGCG others(695): Show TGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACT TCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACC ACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGA GCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCG TGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGC GGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCA CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACA CTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACT TCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACC ACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGA GCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCG TGACCACGCACTGGCGGTGAGCACTTCCCACCCCGTGACCACGCACTGGC GGTGAGCACTTCCCACCCCGTGACCACGCACTGGCGGTGAGCACTTCCCA CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACAC ACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	246	0.0041	702	c.-20 others(713): Show c.-2066_-2065insGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTG TAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCAC GGGGTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTG GTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAA GTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGT GCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCAC GGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGT GTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGG TGGGAAGTGCTCGCCGCC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1824		chr8	TogoVar
BAIAP2L2_chr22_38079900_38115684	38110135	G G	GAGAGAGG others(695): Show GAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGACAGA GAGAGAGAGAGAGAGAGGGAGGGGGAGAGAGAGAGAGGAGAGAGAGAGAG AGAGGGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGGGAG GGGGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGGAGAGAGGAGAG AGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGACAGAGAGAGAGAGAG AGAGAGGGAGGGGGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGGGAGAG AGGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGGGAGGGGGAGAGAGAGA GAGAGGATAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGGG AGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAG AGGGATAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGGGAT AGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGAGAGAGAGAGAG AGGGAGAGAGAGAGAGAGAGAGGGAGAGAGAGACAGAGAGAGAGAGAGGG AGAGAGAGAGAGAGGAGAGAGGGAGAGGGAGAGAGAGAGAGAGAGGGAGA GGGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGACAGGGAGAGAGA GAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0015 a0005c0007t0002g0015	1	18	0.0556	702	c.51+ others(715): Show c.51+339_51+340insGTCTCTCTCTCCCTGTCTCTCTCTCTCTCTCC CTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCCCTCTCC CTCTCTCCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTGTCTCTCTCTCCC TCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTC CCTCTCTCTCTCTCTCTCTCTATCCCTCTCTCTCTCTCTCTCTCCCTCTC TCTCTCTCTCTCTCTATCCCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTC TCTCTGTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCCCTCTC TCTCTCTCTCTCTATCCTCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCT CTCTCTCTCTGTCTCTCTCCTCTCTCCCTCTCTCTCTCTCTCTCCCTCTC TCTCTCTCCCCCTCCCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTC TCCCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCCTCTCTCTCTCTCTCTC CCTCTCTCTCTCTCTCTCCCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTG TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCCCC CTCCCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCCCTCTCTCTCT CTCTCTCTCTCTCCCTCTCT	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	1/13			chr22	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(695): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGTGGGGCTGGGGAGGGTTGG GGTGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGTGGGGTGGGGTGGGGG AAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGTGT GGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGTTGG GGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAGGGG TGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTCCCT GGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGA GGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGGAAGGGT GTGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTG GGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGG GGTGCGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGGGGAGGGGTGGGGTGGGAGGGGGTGGGGTGGGGTGGGGGAGGGGT GGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGTG GGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp2 HG02717.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0015 a0001c0009 a0001c0015	a0001c0009t0015 a0001c0015t0007 a0001c0009t0015 a0001c0015t0007	a0001c0009t0015g0083 a0001c0015t0007g0115 a0001c0009t0015g0083 a0001c0015t0007g0115	2	284	0.0070	702	c.712 others(719): Show c.712-2416_712-2415insTCCCACCCCACCCCACCCCCTCCCACCC CACCCCACCCCTCCCACCCCACCCCACCCCTCCCCCACCCCACCCCACCC CCTCCCACCCCACCCCTCCCCCACCCCACCCCCTCCCACCCCACCCCACC CCTCCCACCCCACCCCACCCGCACCCCTCCCCCACCCCACCCACACCCTT CCCCCACCCCACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCA CCCCACCCCCTCCCACCCCACCCACACCCTTCCCCCACCCCACCCCTCCC TCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCC ACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCA CCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCCATACCC TTCCCCCACTCCACCCCACCCCTCCCCAACCCCACCCGCACCCTTCCCCC ACCCTACCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCACCCCAAC CCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCCACCC CACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACA CCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCA CTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar

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Search Results (Total: 8931 hits)