Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(543): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATG TATTATATATTATATAACTATATATTATATATAATATATGTATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATAATATAACTATATATTATATATAATATATA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0234 a0001c0001t0006g0234	1	268	0.0037	550	c.73 others(561): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATGTATTATATATTATATAACTATATATTATATATAAT ATATGTATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATAATATAACTATATAT TATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
TCF3_chr19_1604292_1657615	1628563	C C	CAGGGGAT others(543): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG TGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGG GGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0286 a0001c0004t0003g0286	1	352	0.0028	550	c.299 others(567): Show c.299-1138_299-1137insTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTTCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGT TCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTC CCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTG TCCCCTTCCCGCCTCATCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TM4SF1_chr3_149364022_149382649	149380218	C C	CGGGAGGG others(543): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGATCAGCCCCCTGCCCGACCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGGAGGCGGGGAGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGCAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCACCT CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCATCCAGGAGGTGAGGGGCGCCTCTGCCCA GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTTTGGGGGTCAGCCCCCCGCCCGACCAGCCGCCCCGTCC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	434	0.0023	550	c.-26 others(561): Show c.-2672_-2671insCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACC CCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCC CCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCTGGATGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGAGGTGACCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTG ACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCAGGGGGCTGA TCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCC	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2570		chr3	TogoVar
TMEM120A_chr7_75981831_75999595	75988765	A A	AGGCGGGG others(543): Show AGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGA AGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGA AGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGA AGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGA AGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGA AGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGA AGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGA AGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGA AGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGA AGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGA AGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGG G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	368	0.0027	550	c.378 others(565): Show c.378-250_378-249insCCCTCCACCCCCCCACCCGGCCTTCTCCTC CACCCCCCTACCCGGCCTTCTTCCCCTCCACCCCCCCACCCGGCCTTCCC CTCCACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCC CTCCACCCCCCCACCCGGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCC CTCCACACCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCC CTCCACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCC CTCCACCCCCCCACCCGGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCC CTCCACACCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCC CTCCACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCC CTCCACCCCCCCACCCGGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCC CTCCACACCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCC CTCCACACCCCCTCCCCGCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TPO_chr2_1408463_1548673	1489946	G G	GAGCAGTG others(543): Show GAGCAGTGTAAGAGCTGCCACGAGGGTCCCACACAGGGGGAGTCACGACA GAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACA CAGCAGTGTAAGAGCTGCCACGAGGGTCCCACACAGGGGGAGTCACGACA GAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACA CAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACA CAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACA CAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACA CAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAGTCACGACA CAGCAGTGTAAGAGCCGCCACGTGGGTCCCGCACAGGGGGAGTCACGACA CAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACA CAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACA C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0127 a0002c0002t0003g0127	1	130	0.0077	550	c.176 others(569): Show c.1768+1969_1768+1970insTGCCACGAGGGTCCCACACAGGGGGA GTCACGACAGAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCTGCCACGAGGGTCCCACACAGGGGGA GTCACGACAGAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCGCACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490188	T T	TCACGACA others(543): Show TCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAG TCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGAG TCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAG TCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAG TCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAG TCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAG TCGCGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAG TCGCGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAG TCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAG TCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAG TCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAG A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0006 a0009c0012t0006	a0009c0012t0006g0125 a0009c0012t0006g0125	1	130	0.0077	550	c.176 others(569): Show c.1768+2234_1768+2235insGCACAGGGGGAGTCACGACACAGCAG TGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGAGTCACGACACAGCAG TGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAG TGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAGTCACGACACAGCAG TGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAG TGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCGCGACACAGCAG TGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCGCGACACAGCAG TGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAGCAG TGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAGCAG TGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAGCAG TGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAGACACGACACAGCAG TGTAAGAGCCGCCACGAGGGTCCC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507363	C C	CATACGTA others(543): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATAATGTATATATACATGTATTATACATACG TAAATGTATAATGTATATATACATGTATTATACATACGTAAATGTATAAT GTATATATACATTATACATACGTAAATGTATAATGTATAATGTATATATA CATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGT AAATGTATAATGTATATATACATTATACATACGTAAATGTATATATATAC ATTATACATACGTAAATGTATATATATACATTATACATACGTAAATGTAT T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	388	0.0026	550	c.-23 others(567): Show c.-23+2684_-23+2685insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATATACATTTACGTATGTATA ATGTATATATACATTATACATTTACGTATGTATAATGTATATATACATTA TACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTA TAATGTATATATACATTATACATTTACGTATGTATAATGTATATATACAT TATACATTTACGTATGTATAATGTATATATACATTATACATTATACATTT ACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATACA TGTATATATACATTATACATTTACGTATGTATAATACATGTATATATACA TTATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAA TACATGTATATATACATATATACATTTACGTATGTATAATACATGTATAT ATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(543): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATAATATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02071.hp2 NA19088.hp2 HG00558.hp2 HG02071.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	272	0.0110	550	c.29 others(561): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATAATATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TSPAN9_chr12_3072379_3291559	3269207	T T	TTCCTGCA others(543): Show TTCCTGCAGCCTGCCCCCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTT CCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCC TGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTTCCTG CAGCCTGCCCTCTGTGCGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCA GCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGC CTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCATTCCTGCAGCCT GCCCTCCCTGTGTTCCTGCAGCCTGCCCTCTGTGCGTTCCTGCAGCCTGC CCTCCGTGCGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCC TCCCTGTGTTCCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTC CGTGCGTTTCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCG TGCATTCCTGCAGCCTGCCCTCCGTGCATTCCTGCAGCCTGCCCTCTGTG C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0117 a0001c0001t0071g0117	1	288	0.0035	550	c.64- others(565): Show c.64-9214_64-9213insTCCTGCAGCCTGCCCCCTCTGTGTTCCTGC AGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAG CCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCC TGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCTGTGCGTTCCTGCAGCCTG CCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCC CTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCT CCGTGCATTCCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTCT GTGCGTTCCTGCAGCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCTCT GTGTTCCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTCCCTGT GTTCCTGCAGCCTGCCCTCCGTGCGTTTCTGCAGCCTGCCCTCTCTGTGT TCCTGCAGCCTGCCCTCCGTGCATTCCTGCAGCCTGCCCTCCGTGCATTC CTGCAGCCTGCCCTCTGTGC	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8			chr12	TogoVar
TUBGCP5_chr15_22994177_23044569	23043721	G G	GGCAGGAG others(543): Show GGCAGGAGGTCCTGGGGGGCCATCATAACCCCACCTGGCCAGAGGTGCTG GGCGGCGGGGGGAACTTCTTAACCCCACCTGGCCAGAGGTGCTGGGGGTG ACTTCAAAATGTCACCTGGCGAGAGGTGTTGGGGGGGATTTCATAACCCC ACCTGGCCAGAGGTGCCGGGGGGACTTCATAACCCCACCTGGCCAGAGGT GCCGGGAGGACTTCATAACCACACCTGGCCAGAGGTACCGGGGGGACATC ATAACCACACCTGGCCAGAGGTGCCGGTGGGACTTCATAACCCCACCTGG CCAGAGGTGCCGGGGGGACTTCATAACCACACGTGGACAGAGGTGCCGGG GGGACATCATAACCACACCTGGCCAGAGGTGCCGGGGGCACATCATAACC TCACCTGGCCAGAGGTGCTGGGGGTGGGTATTATATCCCCACCTGGCCAG AGGTGCTGGGGGGACATCATAACTTCACCTGGCCAGAGGTGCTGGGGGGT ATCATAATCCCACCTGGCCAGAGATGCTGGGGGGACATCATAACCCCACC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	351	0.0029	550	c.-41 others(561): Show c.-4179_-4178insAGGTGGGGTTATGATGTCCCCCCAGCATCTCTGG CCAGGTGGGATTATGATACCCCCCAGCACCTCTGGCCAGGTGAAGTTATG ATGTCCCCCCAGCACCTCTGGCCAGGTGGGGATATAATACCCACCCCCAG CACCTCTGGCCAGGTGAGGTTATGATGTGCCCCCGGCACCTCTGGCCAGG TGTGGTTATGATGTCCCCCCGGCACCTCTGTCCACGTGTGGTTATGAAGT CCCCCCGGCACCTCTGGCCAGGTGGGGTTATGAAGTCCCACCGGCACCTC TGGCCAGGTGTGGTTATGATGTCCCCCCGGTACCTCTGGCCAGGTGTGGT TATGAAGTCCTCCCGGCACCTCTGGCCAGGTGGGGTTATGAAGTCCCCCC GGCACCTCTGGCCAGGTGGGGTTATGAAATCCCCCCCAACACCTCTCGCC AGGTGACATTTTGAAGTCACCCCCAGCACCTCTGGCCAGGTGGGGTTAAG AAGTTCCCCCCGCCGCCCAGCACCTCTGGCCAGGTGGGGTTATGATGGCC CCCCAGGACCTCCTGC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		4153		chr15	TogoVar
VWA2_chr10_114234254_114299489	114253157	G G	GGGGCTGG others(543): Show GGGGCTGGGGGGGTGAACCATAACCGCCCCTTGGGCTGGGCACCCCGACG CTCTCCCATCCTCTCCCCCATCCCTCCCCTTCCCCCTCCCCTCCCCGCCC CCCGCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCGCCTCCCCCTCCCCCC TCCCCAGCCTCCTCCCCCTCCCTCCTCTCCCCTCCTCTCCCTCGCTCCTC CCCTCCCCTCCTCTCCCCTCCCCTCCCCCTCCCCGCCCGCTCCCTCTCCC CCTCCTCCCCCTCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCTCTCCCACTCCCC CTCTCCCCCTCCCCCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCCTCTC CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCCCCCT CCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCC C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0003 a0011c0026t0003	a0011c0026t0003g0237 a0011c0026t0003g0237	1	246	0.0041	550	c.53- others(563): Show c.53-494_53-493insGGGCTGGGGGGGTGAACCATAACCGCCCCTTG GGCTGGGCACCCCGACGCTCTCCCATCCTCTCCCCCATCCCTCCCCTTCC CCCTCCCCTCCCCGCCCCCCGCCCCTCCCCCTCCCCCTCCCCCTCCCCTC CGCCTCCCCCTCCCCCCTCCCCAGCCTCCTCCCCCTCCCTCCTCTCCCCT CCTCTCCCTCGCTCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCCTCCC CGCCCGCTCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCTCCCCCT GTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTCT CCCCTCTCCCACTCCCCCTCTCCCCCTCCCCCCCCCTCCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCT CCCCTCCCCCTCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13			chr10	TogoVar
ZBTB34_chr9_126855639_126890878	126876180	T T	TTCCCCCT others(543): Show TTCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCCTTCCCCCCTTCCCCCCCTTTCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCTCCTTCCCCC C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	246	0.0041	550	c.-10 others(567): Show c.-10-3209_-10-3208insCCCCCTTCCCCCTTCCCCCTTCCCCCCT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCCTTCCCCCCTTCCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCT TCCCCCTTCCTCCTTCCCCCCT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF16_chr8_144925358_144955880	144946533	G G	GGGGCCTG others(543): Show GGGGCCTGTGTCCTGCTGTGGGGCCTGTGTACTGCTGTGGGCCTGTACCG TGCTGTGGGGCCTGTACCCTGCTGTGGGCCTGTACCCTGCTGTGGGGCTG TGTCCTGCTGTGGGGCCTGTACCCTGCTGTGGGCCTGTGTCCTGCTGTGG GCCTGTGTCCTGCTGTGGGCCTGTACCGTGCTGTGGGTCTGTATCCTGCT GTTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTACTGTGGGCCTGTAC CCTGCTGTGGGCCTGTGTCCTGCTGTGGGCCTGTACCCTGCTGTGGGGCT GTGTCCTGCTGTGGGGCCTGTACCCTGCTGTGGGCCTGTGTCCTGCTGTG GGCCTGTGTCCTGCTGTGGGCCTGTACCGTGCTGTGGGTCTGTATCCTGC TGTTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTACTGTGGGCCTGTA CCCTGCTGTGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGC CTGTACCCTGCTGTGGGCCTGTGTCCTGCTGAGGGGCCTGTACCCTGCTG T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	404	0.0025	550	c.-9- others(563): Show c.-9-319_-9-318insACAGCAGGGTACAGGCCCCTCAGCAGGACACA GGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCCACAGCAGG ACACAGGCCCACAGCAGGGTACAGGCCCACAGTAGGACACAGGCCCAACA GCAGGACACAGGCCCAACAGCAGGATACAGACCCACAGCACGGTACAGGC CCACAGCAGGACACAGGCCCACAGCAGGACACAGGCCCACAGCAGGGTAC AGGCCCCACAGCAGGACACAGCCCCACAGCAGGGTACAGGCCCACAGCAG GACACAGGCCCACAGCAGGGTACAGGCCCACAGTAGGACACAGGCCCAAC AGCAGGACACAGGCCCAACAGCAGGATACAGACCCACAGCACGGTACAGG CCCACAGCAGGACACAGGCCCACAGCAGGACACAGGCCCACAGCAGGGTA CAGGCCCCACAGCAGGACACAGCCCCACAGCAGGGTACAGGCCCACAGCA GGGTACAGGCCCCACAGCACGGTACAGGCCCACAGCAGTACACAGGCCCC ACAGCAGGACACAGGCCC	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ARID1B_chr6_156772378_157215779	157147227	A A	ACCCCCGC others(544): Show ACCCCCGCCTCCGACCCTGCCCTCCATCCCTCACCCCCCGCCTCCGGCCC TGCCCGCCAGCCCTCACCTCCGCCTCCGACCCTGCCCGCCTTCCCTCACC CCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCC CTCCATCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAG CCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGACCCTGCCCGCC AGTCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTC CGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCC CCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGCCTCCGGC CCTGTTCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCA CCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTG CCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCC CG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0027 a0027	a0027c0037 a0027c0037	a0027c0037t0019 a0027c0037t0019	a0027c0037t0019g0046 a0027c0037t0019g0046	1	150	0.0067	551	c.276 others(570): Show c.2762-1395_2762-1394insCCCGCCTCCGACCCTGCCCTCCATCC CTCACCCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCTCCGCCTCCGA CCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCC ACCCCCGCCTCCGGCCCTGCCCTCCATCCCTCACCCCCGCCTCCGGCCCT GCCCTCCGGCCCTCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCC CAGCCTCCGACCCTGCCCGCCAGTCCTCACCCCCGCCTCCGACCCTGCCC GCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGC CTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCG TCCCTCACCCCCGCCTCCGGCCCTGTTCTCCGTCCCCCACCCCAGCCTCC GGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCC CCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCC CTGCCCGCCAGCCCTCACCCCCGCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157147227	A A	ACCCCCGC others(544): Show ACCCCCGCCTCCGACCCTGCCCTCCATCCCTCACCCCCCGCCTCCGGCCC TGCCTGCCAGCCCTCACCTCCGCCTCCGACCCTGCCCGCCTTCCCTCACC CCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCC CTCCATCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAG CCTCCGGCCCTGCCCTCCGTCCCCCACCCCAGCCTCCGACCCTGCCCGCC AGTCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTC CGGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCC CCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGCCTCCGGC CCTGTTCTCCGTCCCCCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCA CCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTG CCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCGCCAGCCCTCACCCC CG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0102 a0001c0008t0014g0102	1	150	0.0067	551	c.276 others(570): Show c.2762-1395_2762-1394insCCCGCCTCCGACCCTGCCCTCCATCC CTCACCCCCCGCCTCCGGCCCTGCCTGCCAGCCCTCACCTCCGCCTCCGA CCCTGCCCGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCC ACCCCCGCCTCCGGCCCTGCCCTCCATCCCTCACCCCCGCCTCCGGCCCT GCCCTCCGGCCCTCACCCCAGCCTCCGGCCCTGCCCTCCGTCCCCCACCC CAGCCTCCGACCCTGCCCGCCAGTCCTCACCCCCGCCTCCGACCCTGCCC GCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAGC CTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCG TCCCTCACCCCCGCCTCCGGCCCTGTTCTCCGTCCCCCACCCCAGCCTCC GGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCC CCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCC CTGCCCGCCAGCCCTCACCCCCGCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(544): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAG GAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGG GGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGA AGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAG GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGA AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	300	0.0033	551	c.-70 others(560): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAA GGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAA GGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAG GAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGA GGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAA GTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C4orf19_chr4_37448925_37598510	37585330	A A	AGGAGGGG others(544): Show AGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGT TGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAGGGGAGGGGAGAGG AGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGG TGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAG GAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTG AGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAG AGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGG GAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGA GG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	354	0.0028	551	c.-22 others(568): Show c.-22-3506_-22-3505insTCAGAGGTGTTGAGGGAAGGGAGGGGAG AGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAGGG GAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTG AGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAG AGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGG GAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGA GAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTG TTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAG GAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGA GGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAG GGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAA ATGTTGAGGGAGGGGAGGGGAGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585359	G G	GGGAGGGG others(544): Show GGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTAT TGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGAGGAGGGGAGAGG AGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGG GAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGG TGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAG ATCAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTG AGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAG AGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGG GAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGA GA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0111 a0001c0001t0011g0111	1	354	0.0028	551	c.-22 others(568): Show c.-22-3452_-22-3451insTAGAGGAGAGGTATTGAGGGAGGGGAGG GGAGAGGAGAGGTATTGAGGGAGAGGAGGGGAGAGGAGAGGTATTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGT ATTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGA GGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGG AGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGA GGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGA GGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGG AGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAG GGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGT TGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAGAGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585494	A A	ATTGAGGG others(544): Show ATTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGA GGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGG AGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGA GGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG AGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGT TGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAG GGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGG TG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18970.hp1 HG00423.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0157 a0001c0001t0053g0092 a0001c0001t0001g0157 a0001c0001t0053g0092	2	354	0.0057	551	c.-22 others(568): Show c.-22-3327_-22-3326insGGTATTGAGGGAGGGGAGGGGAGAGGAG AGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGG GAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTG TTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAG GAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGA GGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAG GGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGA GAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGGAGAGGAGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(544): Show ATATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATAATTATATATATAATTTTATATATATATAATT ATATATATTATATAATTTTATATATATAATTATATATATTATATAATTAT ATATATAATTTTATATATATATAATTATATATACAATTTTATAATATATA TAATTATATATACAATTATATATATATATAATTATATATATATAATTGTA TATATAATTTTATATATATAATTATATATAATTTTATATATATATAATTA TATATATAATTATATATATATAATTATATATATTTATATATATATAATTA TATATATATAATTATATATATTTATATATATATAATTATATATATATAAT TATATATATTTATATATATATATAATTATATATATAATTATATATATATA ATTTTATATAATTTTATATATAATTATATATATAATTTTATATATATAAT TT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0318 a0003c0003t0001g0318	1	330	0.0030	551	c.907 others(566): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATATAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATATA AATATATATAATTATATATATATAATTATATATATATAAATATATATAAT TATATATATATAATTATATATATAATTATATATATATAAAATTATATATA ATTATATATATAAAATTATATATACAATTATATATATATAATTATATATA TATATAATTGTATATATAATTATATATATTATAAAATTGTATATATAATT ATATATATATAAAATTATATATATAATTATATAATATATATAATTATATA TATAAAATTATATAATATATATAATTATATATATATAAAATTATATATAT AATTATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(544): Show CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0254 a0001c0002t0004g0254	1	410	0.0024	551	c.-22 others(568): Show c.-22-1979_-22-1978insTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCG TCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGTCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC198_chr14_57464300_57498857	57498798	G G	GTGTGTGT others(544): Show GTGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGTATATATA TGTGTGTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGT GTGTGTGTATATATGGTATATATATATAATATGGTATATATATGTGTGTG TGTGTATATGGTATATATATAATATGGTATATATATGTGTGTGTGTGTAT ATGGTATATATATATAATATGGTATATATATGTGTGTGTATATGGTATAT ATATATAATATGGTATATATATGTGTGTGTGTGTATATATGGTATATATA TATAATATGGTATATATATGTGTGTGTGTGTATATATGGTATATATATAT AATATGGTATATATAGTGTGTGTGTGTGTATATATGGTATATATATATAA TATGGTATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAAT GTGGTATATATATGTGTGTGTGTATATATGGTATATATATAATATGGTAT ATATATGTGTGTGTGTGTATATATGGTATATATATATAATATGGTATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02257.hp1 HG02559.hp1 others(3): Show HG01346.hp2 HG02257.hp1 HG02559.hp1 NA18906.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0014 a0001c0002t0002 a0001c0002t0014	a0001c0002t0002g0010 a0001c0002t0014g0077 a0001c0002t0002g0010 a0001c0002t0014g0077	6	362	0.0166	551	c.-50 others(562): Show c.-5084_-5083ins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	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4942		chr14	TogoVar
CDCP1_chr3_45077277_45151378	45133739	A A	AAAAAATA others(544): Show AAAAAATATATATACTTTTTTAAAGAAGAAAACCAATACAGAACTCTTAA CTAGATGGGGTACCAGGCAGGGAAAGATGGGGTGGTTTTTGTAGGACCTG CCGAGCTGCTCAAGGAAAGAAGTTTGGACAAATACAAAGTATTGTTTGGG ATGCTGAGCCTCCCCTTCTGAGCTGAATTACCAGATGGAAGGTGTTATAT AGATAAGCCAGCCTTTATGAAAATATTATATCAACAAGGATTTCTAAAAC ATTGGATTTACTGTAAAACTTTAATGTCCAGGTACTGGAAGGTGACAGGA GGGAGGCAAATAAGTGGGTCAGAGAGAAGGTGATGATATGGCCAAGAGAG TTTGGCTGGGACCAAGTGTTTGCCCTGAAGCCCAGCTAGAGAAGAGCAGT AGTAAGAGACGCGTTTCAGCTTGTACCATTCAACACCAGCAGCAGAGAGG AGTGCTGGAGTTTTTTGTCCTAAACACCACTCTGACTGTCCACCTTTCCC TTTACACTAGTGAGGGGGCTGCAGTGGCTCCAGAAAATGTTCTGTCGGTA GG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	384	0.0026	551	c.82+ others(568): Show c.82+12466_82+12467insCCTACCGACAGAACATTTTCTGGAGCCA CTGCAGCCCCCTCACTAGTGTAAAGGGAAAGGTGGACAGTCAGAGTGGTG TTTAGGACAAAAAACTCCAGCACTCCTCTCTGCTGCTGGTGTTGAATGGT ACAAGCTGAAACGCGTCTCTTACTACTGCTCTTCTCTAGCTGGGCTTCAG GGCAAACACTTGGTCCCAGCCAAACTCTCTTGGCCATATCATCACCTTCT CTCTGACCCACTTATTTGCCTCCCTCCTGTCACCTTCCAGTACCTGGACA TTAAAGTTTTACAGTAAATCCAATGTTTTAGAAATCCTTGTTGATATAAT ATTTTCATAAAGGCTGGCTTATCTATATAACACCTTCCATCTGGTAATTC AGCTCAGAAGGGGAGGCTCAGCATCCCAAACAATACTTTGTATTTGTCCA AACTTCTTTCCTTGAGCAGCTCGGCAGGTCCTACAAAAACCACCCCATCT TTCCCTGCCTGGTACCCCATCTAGTTAAGAGTTCTGTATTGGTTTTCTTC TTTAAAAAAGTATATATATTTTT	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CDCP1_chr3_45077277_45151378	45133739	A A	AAAAAATA others(544): Show AAAAAATATATATACTTTTTTAAAGAAGAAAACCAATACAGAACTCTTAA CTAGATGGGGTACCAGGCAGGGAAAGATGGGGTGGTTTTTGTAGGACCTG CCGAGCTGCTCAAGGAAAGAAGTTTGGACAAATACAAAGTATTGTTTGGG ATGCTGAGCCTCCCCTTCTGAGCTGAATTACCAGATGGAAGGTGTTATAT AGATAAGCCAGCCTTTATGAAAATATTATATCAACAAGGATTTCTAAAAC ATTGGATTTACTGTAAAACTTTAATGTCCAGGTACTGGAAGGTGACAGGA GGGAGGCAAATAAGTGGGTCAGAGAGAAGGTGATGATATGGCCAAGAGAG TTTGGCTGGGACCAAGTGTTTGCCCTGAAGCCCAGCTAGAGAAGAGCAGT GGTAAGAGACGCGTTTCAGCTTGTACCATTCAACACCAGCAGCAGAGAGG AGTGCTGGAGTTTTTTGTCCTAAACACCACTCTGACTGTCCACCTTTCCC TTTACACTAGTGAGGGGGCTGCAGTGGCTCCAGAAAATGTTCTGTCGGTA GG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(172): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011 a0012	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0002 a0002c0005 a0002c0020 a0003c0006 a0004c0009 a0005c0013 a0005c0016 a0006c0012 a0008c0018 a0011c0025 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0039 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0010 a0001c0003t0013 a0001c0004t0001 a0001c0004t0020 a0001c0007t0001 a0001c0007t0002 a0001c0008t0002 a0001c0008t0005 a0001c0008t0029 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0021 a0002c0002t0030 a0002c0002t0037 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0005t0006 a0002c0005t0010 a0002c0005t0017 a0002c0020t0001 a0003c0006t0011 a0003c0006t0022 a0004c0009t0007 a0005c0013t0023 a0005c0016t0023 a0006c0012t0002 a0008c0018t0018 a0011c0025t0002 a0012c0017t0001	a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0067 others(170): Show a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0225 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0344 a0001c0001t0001g0360 a0001c0001t0001g0364 a0001c0001t0002g0050 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0138 a0001c0001t0002g0154 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0213 a0001c0001t0002g0228 a0001c0001t0002g0266 a0001c0001t0002g0273 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0311 a0001c0001t0002g0321 a0001c0001t0002g0326 a0001c0001t0002g0346 a0001c0001t0002g0363 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0168 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0286 a0001c0001t0003g0305 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0325 a0001c0001t0003g0329 a0001c0001t0003g0351 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0025 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0005g0086 a0001c0001t0005g0181 a0001c0001t0005g0198 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0006g0237 a0001c0001t0006g0350 a0001c0001t0014g0022 a0001c0001t0014g0023 a0001c0001t0015g0001 a0001c0001t0015g0139 a0001c0001t0017g0125 a0001c0001t0019g0140 a0001c0001t0024g0323 a0001c0001t0024g0324 a0001c0001t0027g0243 a0001c0001t0028g0355 a0001c0001t0032g0031 a0001c0001t0039g0302 a0001c0003t0001g0212 a0001c0003t0001g0327 a0001c0003t0001g0348 a0001c0003t0001g0356 a0001c0003t0001g0361 a0001c0003t0002g0182 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0295 a0001c0003t0002g0357 a0001c0003t0003g0333 a0001c0003t0004g0019 a0001c0003t0004g0021 a0001c0003t0004g0028 a0001c0003t0006g0046 a0001c0003t0010g0335 a0001c0003t0013g0024 a0001c0004t0001g0074 a0001c0004t0001g0133 a0001c0004t0001g0156 a0001c0004t0001g0171 a0001c0004t0001g0208 a0001c0004t0001g0310 a0001c0004t0020g0159 a0001c0004t0020g0160 a0001c0007t0001g0077 a0001c0007t0002g0271 a0001c0007t0002g0362 a0001c0008t0002g0199 a0001c0008t0005g0076 a0001c0008t0005g0202 a0001c0008t0005g0214 a0001c0008t0029g0016 a0002c0002t0001g0081 a0002c0002t0001g0343 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0274 a0002c0002t0002g0285 a0002c0002t0002g0294 a0002c0002t0002g0338 a0002c0002t0002g0382 a0002c0002t0012g0312 a0002c0002t0012g0313 a0002c0002t0013g0026 a0002c0002t0013g0027 a0002c0002t0013g0036 a0002c0002t0013g0039 a0002c0002t0014g0012 a0002c0002t0014g0035 a0002c0002t0021g0011 a0002c0002t0030g0030 a0002c0002t0037g0352 a0002c0005t0001g0342 a0002c0005t0002g0002 a0002c0005t0002g0349 a0002c0005t0004g0037 a0002c0005t0006g0275 a0002c0005t0010g0206 a0002c0005t0017g0345 a0002c0020t0001g0209 a0003c0006t0011g0045 a0003c0006t0011g0334 a0003c0006t0022g0029 a0004c0009t0007g0242 a0004c0009t0007g0339 a0005c0013t0023g0082 a0005c0016t0023g0341 a0006c0012t0002g0381 a0008c0018t0018g0149 a0011c0025t0002g0358 a0012c0017t0001g0041	175	384	0.4557	551	c.82+ others(568): Show c.82+12466_82+12467insCCTACCGACAGAACATTTTCTGGAGCCA CTGCAGCCCCCTCACTAGTGTAAAGGGAAAGGTGGACAGTCAGAGTGGTG TTTAGGACAAAAAACTCCAGCACTCCTCTCTGCTGCTGGTGTTGAATGGT ACAAGCTGAAACGCGTCTCTTACCACTGCTCTTCTCTAGCTGGGCTTCAG GGCAAACACTTGGTCCCAGCCAAACTCTCTTGGCCATATCATCACCTTCT CTCTGACCCACTTATTTGCCTCCCTCCTGTCACCTTCCAGTACCTGGACA TTAAAGTTTTACAGTAAATCCAATGTTTTAGAAATCCTTGTTGATATAAT ATTTTCATAAAGGCTGGCTTATCTATATAACACCTTCCATCTGGTAATTC AGCTCAGAAGGGGAGGCTCAGCATCCCAAACAATACTTTGTATTTGTCCA AACTTCTTTCCTTGAGCAGCTCGGCAGGTCCTACAAAAACCACCCCATCT TTCCCTGCCTGGTACCCCATCTAGTTAAGAGTTCTGTATTGGTTTTCTTC TTTAAAAAAGTATATATATTTTT	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CDCP1_chr3_45077277_45151378	45133739	A A	AAAAAATA others(544): Show AAAAAATATATATACTTTTTTAAAGAAGAAAACCAATACAGAACTCTTAA CTAGATGGGGTACCAGGCAGGGAAAGATGGGGTGGTTTTTGTAGGACCTG CCGAGCTGCTCAAGGAAAGAAGTTTGGACAAATACAAAGTATTGTTTGGG ATGCTGAGCCTCCCCTTCTGAGCTGAATTACCAGATGGAAGGTGTTATAT AGATAAGCCAGCCTTTATGAAAATATTATATCAACAAGGATTTCTAAAAC ATTGGATTTACTGTAAAACTTTAATGTCCAGGTACTGGAAGGTGACAGGA GGGAGGCAAATAAGTGGGTCAGAGAGAAGGTGATGATATGGCCAAGAGAG TTTGGCTGGGACCAAGTGTTTGCCCTGAAGCCCAGCTAGAGAAGAGCAGT GGTAAGAGACGCGTTTCAGCTTGTACCATTCAACACCAGCAGCAGAGAGG AGTGCTGGAGTTTTTTGTCCTAAACACCACTCTGACTGTCCACCTTTCCC TTTACACTAGTGAGGGGGCTGCAGTGGCTCCAGAAAATGTTCTGTCGGTC GG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20129.hp2 HG02818.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0026 a0002c0002t0009 a0001c0001t0026 a0002c0002t0009	a0001c0001t0026g0241 a0002c0002t0009g0047 a0001c0001t0026g0241 a0002c0002t0009g0047	2	384	0.0052	551	c.82+ others(568): Show c.82+12466_82+12467insCCGACCGACAGAACATTTTCTGGAGCCA CTGCAGCCCCCTCACTAGTGTAAAGGGAAAGGTGGACAGTCAGAGTGGTG TTTAGGACAAAAAACTCCAGCACTCCTCTCTGCTGCTGGTGTTGAATGGT ACAAGCTGAAACGCGTCTCTTACCACTGCTCTTCTCTAGCTGGGCTTCAG GGCAAACACTTGGTCCCAGCCAAACTCTCTTGGCCATATCATCACCTTCT CTCTGACCCACTTATTTGCCTCCCTCCTGTCACCTTCCAGTACCTGGACA TTAAAGTTTTACAGTAAATCCAATGTTTTAGAAATCCTTGTTGATATAAT ATTTTCATAAAGGCTGGCTTATCTATATAACACCTTCCATCTGGTAATTC AGCTCAGAAGGGGAGGCTCAGCATCCCAAACAATACTTTGTATTTGTCCA AACTTCTTTCCTTGAGCAGCTCGGCAGGTCCTACAAAAACCACCCCATCT TTCCCTGCCTGGTACCCCATCTAGTTAAGAGTTCTGTATTGGTTTTCTTC TTTAAAAAAGTATATATATTTTT	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CDCP1_chr3_45077277_45151378	45133739	A A	AAAAAATA others(544): Show AAAAAATATATATACTTTTTTAAAGAAGAAAACCAATACAGAACTCTTAA CTAGATGGGGTACCAGGCAGGGAAAGATGGGGTGGTTTTTGTAGGACCTG CCGAGCTGCTCAAGGAAAGAAGTTTGGACAAATACAAAGTATTGTTTGGG ATGCTGAGCCTCTCCTTCTGAGCTGAATTACCAGATGGAAGGTGTTATAT AGATAAGCCAGCCTTTATGAAAATATTATATCAACAAGGATTTCTAAAAC ATTGGATTTACTGTAAAACTTTAATGTCCAGGTACTGGAAGGTGACAGGA GGGAGGCAAATAAGTGGGTCAGAGAGAAGGTGATGATATGGCCAAGAGAG TTTGGCTGGGACCAAGTGTTTGCCCTGAAGCCCAGCTAGAGAAGAGCAGT GGTAAGAGACGCGTTTCAGCTTGTACCATTCAACACCAGCAGCAGAGAGG AGTGCTGGAGTTTTTTGTCCTAAACACCACTCTGACTGTCCACCTTTCCC TTTACACTAGTGAGGGGGCTGCAGTGGCTCCAGAAAATGTTCTGTCGGTA GG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	384	0.0026	551	c.82+ others(568): Show c.82+12466_82+12467insCCTACCGACAGAACATTTTCTGGAGCCA CTGCAGCCCCCTCACTAGTGTAAAGGGAAAGGTGGACAGTCAGAGTGGTG TTTAGGACAAAAAACTCCAGCACTCCTCTCTGCTGCTGGTGTTGAATGGT ACAAGCTGAAACGCGTCTCTTACCACTGCTCTTCTCTAGCTGGGCTTCAG GGCAAACACTTGGTCCCAGCCAAACTCTCTTGGCCATATCATCACCTTCT CTCTGACCCACTTATTTGCCTCCCTCCTGTCACCTTCCAGTACCTGGACA TTAAAGTTTTACAGTAAATCCAATGTTTTAGAAATCCTTGTTGATATAAT ATTTTCATAAAGGCTGGCTTATCTATATAACACCTTCCATCTGGTAATTC AGCTCAGAAGGAGAGGCTCAGCATCCCAAACAATACTTTGTATTTGTCCA AACTTCTTTCCTTGAGCAGCTCGGCAGGTCCTACAAAAACCACCCCATCT TTCCCTGCCTGGTACCCCATCTAGTTAAGAGTTCTGTATTGGTTTTCTTC TTTAAAAAAGTATATATATTTTT	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(544): Show CTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGAC TGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTG TGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTG TGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGTG GG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG00741.hp1 others(15): Show HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01981.hp1 HG02602.hp2 HG03669.hp2 HG03942.hp2 HG04228.hp1 NA18950.hp2 NA18963.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 others(15): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0089	18	91	0.1978	551	c.177 others(570): Show c.1779-1999_1779-1998insGGTGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGAGGTGTGACTGTGGGTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650984	G G	GTGAGGGG others(544): Show GTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG TGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGA CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGTG AGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACT GTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGTGGG TA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	91	0.0110	551	c.177 others(570): Show c.1779-1999_1779-1998insGGTGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGAGGTGTGACTGTGGGTATGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(544): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTATATATAAAATAAATATTTATTTTAATATATAAAATAAA TATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATA TTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TTTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTTTA TT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	402	0.0025	551	c.80- others(566): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTTA TTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTTTT TAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT TAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTTTATTTA TTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(544): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCC TCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTT CTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCT CC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0023 a0001c0001t0042g0023	1	270	0.0037	551	c.162 others(572): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTC CTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCC CTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCT TCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(544): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCC TCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTT CTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCT CC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	270	0.0037	551	c.162 others(572): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTC CTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCC CTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCT TCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCTTCCT others(544): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTG TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCC ACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0092 a0001c0003t0001g0092	1	223	0.0045	551	c.-42 others(562): Show c.-4275_-4274insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTGTCTCCACCTCCCCTCCCTCTG TCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(544): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGAGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAGTA TGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTG TGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTG TGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGA GTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGA GTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGT GTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT GTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT GT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp2 NA18522.hp1 others(1): Show HG02647.hp1 HG02976.hp2 NA18522.hp1 NA19065.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0015 a0002c0002 a0005c0015	a0002c0002t0002 a0002c0002t0004 a0005c0015t0002 a0002c0002t0002 a0002c0002t0004 a0005c0015t0002	a0002c0002t0002g0169 a0002c0002t0004g0263 a0005c0015t0002g0256 others(1): Show a0002c0002t0002g0169 a0002c0002t0004g0263 a0005c0015t0002g0256 a0005c0015t0002g0257	4	336	0.0119	551	c.341 others(568): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC CATACACTCCCATACACACACTCTCCCATACACACCCATACTCACACTCC CATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATA CACTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(544): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAATGTGTATGG GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGG GAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTGAGTGTGTGT GT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0021 a0021	a0021c0051 a0021c0051	a0021c0051t0003 a0021c0051t0003	a0021c0051t0003g0069 a0021c0051t0003g0069	1	336	0.0030	551	c.341 others(568): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC CCATACTCACACTCCCATACACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACAC CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC ATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTC CCATACACACACACCCATACACTCCCATACACATTCCCATACACAACCCA TACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACA CTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACA CACTCCCATACACACACACCCATACTCACACTCATACACACACATACCCA TACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACTCC CATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATA CACTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(544): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGG GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGG GAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGT GTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT GT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0175	1	336	0.0030	551	c.341 others(568): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACAC CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC ATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTC CCATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCA TACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACA CTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACA CACTCCCATACACACACACCCATACTCACACTCATACACACACATACCCA TACACTCCCATACACACACACTCTCCCATACACACCCATACTCACACTCC CATACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATA CACTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL18A1_chr21_45400165_45518720	45500841	G G	GGTGTGTG others(544): Show GGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG GT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0004 a0001c0038t0004	a0001c0038t0004g0029 a0001c0038t0004g0029	1	292	0.0034	551	c.268 others(570): Show c.2684-3164_2684-3163insGTTGGGTGTGTAGTGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG TGTGGGGGTGTGGTTTGGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(544): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATGATATATAT CAGATATATATATGATATATATATCTGATATATATCATATATATCATATA TATCATTTGTATCATATATATATCATATATATCATATGTATCATATATAT CATGTATATATCATATATATCATATATATCATATATGTATTCATATATAT CATATATATTCATATATTATATATTCATATATATCATATATATTCATATA TATATCATATATATTCATATATATCATATATATTCATATATATCATATAT ATTCATATATATCATATATATTCATATATATCATATATATTCATATATAT ATCATATATATTCATATATATATTCATATATATATCATATATATTCATAT ATATATTCATATATATATCATATATATTCATATATATATTCATATATATA TC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0103 a0002c0003t0002g0103	1	182	0.0055	551	c.267 others(568): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATGATATATATATCTGATAT ATATCATATATATCATATATATCATTTGTATCATATATATATCATATATA TCATATGTATCATATATATCATGTATATATCATATATATCATATATATCA TATATGTATTCATATATATCATATATATTCATATATTATATATTCATATA TATCATATATATTCATATATATATCATATATATTCATATATATCATATAT ATTCATATATATCATATATATTCATATATATCATATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATTCATATAT ATATCATATATATTCATATATATATTCATATATATATCATATATATTCAT ATATATATTCATATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098010	T T	TATAAATA others(544): Show TATAAATATATATAAATATATAAATATATATAAATATAAATATATAAAAT ATATAAATATATAAATATATATAAATATATAAATATATATAAATATATAT ATATATAAAATATATATAAATATATAAATATATATAAATATATGTAAATA TATAAATATATATAAATATATATGTAAATATATAAATATATAAATAAATA TATATAAATATATAAATATAAATATATATATAAATATGTAATTCTAATAT ATATGTAAATATATATATATAAATATATTTATATATATAAATATATATAT ATTTATAATATATAAATATATATATATTTATAAATATATAAATATATATA TATTTATAAATATATAAATATATATAAAATATATAAATATATAAAAATAT AATATATATAAATATATAAATATGTAAATATATATAAATATATATATAAA TATATATATAATATATATATAAATATATATATAATATATATATATAAATA TATATAAATATATAACTATATAATAAATATATATAAATATATAAATATAT AA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0015	1	264	0.0038	551	c.181 others(570): Show c.1812+3461_1812+3462insTTATATATTTATATATTTATATATAT TTATTATATAGTTATATATTTATATATATTTATATATATATATTATATAT ATATTTATATATATATTATATATATATTTATATATATATTTATATATATT TACATATTTATATATTTATATATATTATATTTTTATATATTTATATATTT TATATATATTTATATATTTATAAATATATATATATTTATATATTTATAAA TATATATATATTTATATATTATAAATATATATATATTTATATATATAAAT ATATTTATATATATATATTTACATATATATTAGAATTACATATTTATATA TATATTTATATTTATATATTTATATATATTTATTTATATATTTATATATT TACATATATATTTATATATATTTATATATTTACATATATTTATATATATT TATATATTTATATATATTTTATATATATATATATTTATATATATTTATAT ATTTATATATATTTATATATTTATATATTTTATATATTTATATTTATATA TATTTATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(544): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18999.hp2 NA19065.hp1 others(1): Show NA18954.hp1 NA18999.hp2 NA19065.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0002g0196	4	396	0.0101	551	c.513 others(568): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DNAJB6_chr7_157332004_157422439	157370073	G G	GGGCCCCT others(544): Show GGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTA TTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAACAT TATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACAGGCCCCTTCT TAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCCCTT TCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAGAG GCCCTTTCTTAACATTATTATTAAACAGGTCTTTCATAACGTTATTATTA AACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTA TTATTAAACAGGCCCCTTCTTAACATTATTATTAAATGGGACCCTTCTTA AGATTATTAAACGGGCCCTTTCTTAACATTATTATTAAACAGGCCCCTTC TTAACATTATTATTAAAGAGGCCCTTTCTTAACATTATTATTAAACAGGT CTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAA CA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	372	0.0027	551	c.346 others(568): Show c.346+2601_346+2602insCACATTATTATTAAACAGGCCCCTTCTT AACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTAACATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACA GGCCCCTTCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAA ACGGGCCCTTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTAT TATTAAAGAGGCCCTTTCTTAACATTATTATTAAACAGGTCTTTCATAAC GTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCCCTT CTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAATGGG ACCCTTCTTAAGATTATTAAACGGGCCCTTTCTTAACATTATTATTAAAC AGGCCCCTTCTTAACATTATTATTAAAGAGGCCCTTTCTTAACATTATTA TTAAACAGGTCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAACAT TATTATTAAACAGGCCCCTTCTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPEP1_chr16_89608642_89643433	89634674	C C	CCCTTCCT others(544): Show CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCGTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	250	0.0040	551	c.105 others(568): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCGTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(544): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGAGGGA GGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGGGAGG GGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAAGGAG GGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAGGGAA GGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAGGGAG GGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGA GGGAAGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAG GG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0024 a0024	a0024c0033 a0024c0033	a0024c0033t0001 a0024c0033t0001	a0024c0033t0001g0181 a0024c0033t0001g0181	1	290	0.0035	551	c.757 others(568): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTT TCCCTCCTTCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCC CTCCTTCCCTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTC CCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCT TCCCCTCCTTCCCTCCTCCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCC TCCCTTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCC CTCCTTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCC ATCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTC CCTCCCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
ERICH1_chr8_659200_736224	676116	T T	TGAGGACA others(544): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGG ACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCG GC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0301 a0001c0003t0002g0301	1	378	0.0027	551	c.305 others(568): Show c.305-2070_305-2069insGCCGAGGGGCCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGT CCTCACGAGGGGCCGCCGCGCCTCTGTCCTCACGAGGGGCCGCCGCGTCT CTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCG CGCCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGG CGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGCCTCTGTCCTCACGAG GGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTC GCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCT GTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCG CCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCC GCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCGCCGA GGGGGCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676116	T T	TGAGGACA others(544): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGG ACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCG GC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0303 a0001c0003t0002g0303	1	378	0.0027	551	c.305 others(568): Show c.305-2070_305-2069insGCCGAGGGGCCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGT CCTCACGAGGGGCCGCCGCGCCTCTGTCCTCACGAGGGGCCGCCGCGTCT CTGTCCTCGCCGAGGGGGCGCCGCGCCTCTGTCCTCACGAGGGGCCGCCG CGCCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGG CGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGCCTCTGTCCTCACGAG GGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTC GCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCT GTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCG CCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGCC GCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCGCCGA GGGGGCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676280	C C	CGGCGAGG others(544): Show CGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCG GCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGAC GCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACA GAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGGCG AGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0319 a0001c0003t0002g0319	1	378	0.0027	551	c.305 others(568): Show c.305-2234_305-2233insCGAGGGGCCGCCGCGTCTCTGTCCTCAC GAGGGGCCGCCGCGCCTCTGTCCTCGCCGAGGGGCCGCCGCGCCTCTGTC CTCGCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTC TCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCC GCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGGC CGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGCCTCTGTCCTCACGAG GGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTC ACGAGGGGCCGCCGCGCCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGT CCTCGCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGCC TCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGGGGCGCC GCGTCTCTGTCCTCGCCGAGGGGCCGCCGCGTCTCTGTCCTCGCCGAGGG GGCGCCGCGTCTCTGTCCTCGCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
EXOC6_chr10_92843520_93064490	92948070	A A	ATTGTACC others(544): Show ATTGTACCTGGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAGTAGCCAA TACAGTAATTTCATTTTTATTTATTTTTATTTTTTTTTTAATTTTTTTTT TATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTA CATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCAT CTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCC CACCACAGTCCCCAGAGTGTGGTATTCCCCTTCCTGTGTCCATGTGATCT CATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTT GTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTC CCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCAT GGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATT TGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATA CG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0281 a0001c0001t0006g0281	1	288	0.0035	551	c.131 others(568): Show c.1311-189_1311-188insTTTTTTTTTTTTTTTTTTTTTTTGTAGT AGCCAATACAGTAATTTCATTTTTATTTATTTTTATTTTTTTTTTAATTT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGGTATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTG GACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AACATACGTTGTACCTGGATTTT	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(544): Show TATATAAATATATAAAAATATATAAATATATAAATATATAAAAATATATA AATACATAAATATATAAATATATAAATATATAAATATATATACATAAATA TATAAATATATAAATATATAAATATATAAATATATAAATACATAATATAT AAATATAAAATATATATAATATATAAAATATATTAAAAATATAAAAATAT ATATAAAAAATATATAAATATATAAAAATATATAAAAAATATATACACAT ATAAATATATATAAAAATATATAAATATATATAAAAATATATAAATATAT ATTATATATAAATATATAATATATAAATATATATAAATATATAAATATAT ATAAATATATACAATATATAAATATATATAAATATATACAATATATAAAT ATATATAAATATATACAATATATAAATATATATAAATATATACAATATAT AAATATATATAAATATATACAATATATAAATATATATAAATATATATAAT ATATAAATATATATAAATATATACAATATATAAATATATATAAATATATA TA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02055.hp1 others(4): Show HG00639.hp1 HG01891.hp1 HG02055.hp1 HG02293.hp2 HG02559.hp1 HG02886.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0258 a0001c0001t0001g0259 others(4): Show a0001c0001t0001g0235 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0272	7	344	0.0204	551	c.617 others(568): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTATATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTGTATATATTTATATATATTTATATATTTATATATATTT ATATATTATATATTTATATATAATATATATTTATATATTTTTATATATAT TTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTT TATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTT ATATATTATATATATTTTATATTTATATATTATGTATTTATATATTTATA TATTTATATATTTATATATTTATATATTTATGTATATATATTTATATATT TATATATTTATATATTTATGTATTTATATATTTTTATATATTTATATATT TATATATTTTTATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(544): Show GTATATACATATAAATATATATGTATATACATATAAATATATATGTATGT ATATTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATTTATATACATATAAATATATATTTACATA CATATAAATATATATTTACATACATATAAATATATATTTACATACATATA AATATATACATTTATATACATATAAATATATACATATATACATATAAATA TATATTTATATACATATAAATATATATATTTATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATA TATATTTATATACATATAAATTTATATACATATAAATATAAATATTTATA TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0044 a0003c0044	a0003c0044t0001 a0003c0044t0001	a0003c0044t0001g0285 a0003c0044t0001g0285	1	292	0.0034	551	c.49 others(562): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAAATATATATTTATATG TATATAATTATATATATTTATATGTATATAATTATATATTTATATGTATA TAATTATATATTTATATGTATATAAATATATATTTATATGTATATATATA TAAATATATATATATTTATATATATATAAATATATATAAATATATATATT TATATGTATATAAATATATATTTATATGTATATATGTATATATTTATATG TATATAAATGTATATATTTATATGTATGTAAATATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATA TTTATATGTATATAATATACATACATATATATTTATATGTATATACATAT ATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GRAMD4_chr22_46615386_46684785	46635199	G G	GACCCCGG others(544): Show GACCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCCC CGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGC CACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACT CCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCTGGCCACTCCTG TCCTGGGGAACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCT GGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGG AACCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGGAGGCCGTATCCTC CCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTG CCCCCGCCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCC CA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	328	0.0031	551	c.163 others(568): Show c.163-2641_163-2640insACCCCGGCCACTCCTGTCCTGGGAGGCC GTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTC CTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGC CCCCGCCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCCCC GACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCC CTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCAG CCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCTGGCCAC TCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCTGGCCACTCCT GTCCTGGGAGGCCGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCC TGGGAGGCCCTATCCTCCCTGCCCCCGCCCCTGGCCACTCCTGTCCTGGG AGGCCGTGTCCTCCCTGCCCCCA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635480	T T	TGGCCACT others(544): Show TGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCCCCCGGC CACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTC CTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGT CCTGGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCTTG GGGAGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCTTGGGGA GCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCG TGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTC CTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCC CTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGT CCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCC ACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCC CC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01175.hp2 others(3): Show HG00140.hp1 HG00741.hp1 HG01175.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0206 a0001c0001t0003g0224 a0001c0001t0003g0225 others(3): Show a0001c0001t0003g0206 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0241 a0001c0001t0003g0248 a0001c0001t0018g0247	6	328	0.0183	551	c.163 others(568): Show c.163-2286_163-2285insTTCCCTGCCCCGCCCCCGGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCT GGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCTTGGGG AGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCTTGGGGAGCC GTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTG CCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCC CGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACC CCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCG GCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCCCCCGGCCA CTCCTGTCCTGGGAGGCCGTGTC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 10000 hits)