Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

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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
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(931): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAGAGGG GAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGG AGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAGGGGGAGGGGAAGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAAGGGGAG GGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGA GGAGGGGAGGAAGGGGAGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGAG GGGAGGGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGAGGTGGGA GGGGGAGGGGAGGACGGGGAGGGGAGGAGGGGAGGAGGGGAGGAGGGGGA GGGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGAGGGAGGAGGGGAGGAAG GGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGAGGGGGG AGGGGAGGAGGTGGGAGGGGGAGGGGAGGACGGGGAGGGGAGGAGGGGGA GGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGG AAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGA GGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGA GGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGAGGGGTGCGGGAGGGGAG GGGTGCGGGAGGGGAGGGTAAAGGAAGGGAGGGGAGGGTGGGGGGACGGG AGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	208	0.0048	938	c.279 others(953): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCGTCCCCCCACCCTCCCCTCCCTTCCTTTACCCTCCCCT CCCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCT CTCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCT CCCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTC CCTTCCTTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCTCCCCTCCCCCTCCTCCCCTCCCCGTCCTCCCCTCCCCCTCCCACC TCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCTC CCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCTTCCTCCCCTCCTCCCCTC CCCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCGTCCTC CCCTCCCCCTCCCACCTCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCTTC CTCCCCTCCTCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTT CCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCC TCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCC CTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGATAT others(931): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAGATA TCTGTGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGATA TCTATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGA TATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATC TATGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGATGTC TATAGATTAGATATCTATGATATCTAGAGATGTCTATAGATTAGATATCT ATGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATT TCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATATCGATATCTAGAGATAT CTATAGATTAGATATCTATATCTAGAGATATCTATAGATTAGATATCTAT GATATCTCGAGATATCTATAGATTAGATATCTATGATATCTCGAGATATC TATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATA TCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0056 a0003c0003t0002g0056	1	346	0.0029	938	c.176 others(957): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATAT CTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGA TATCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGAT ATCTCGAGATATCATAGATATCTAATCTATAGATATCTCTAGATATAGAT ATCTAATCTATAGATATCTCTAGATATCGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATA TCTAATCTATAGAAATCTCTAGACATCATAGATATCTAATCTATAGAAAT CTCTAGACATCATAGATATCTAATCTATAGACATCTCTAGATATCATAGA TATCTAATCTATAGACATCTCTAGATATAGATATCTAATCTATAGATATC TCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGAT ATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATA TCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCTATC TAATCTATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCCAATCTATAGATATCTCTAGATATAGATATCCAATCTATAGATATCTC TAGATATCACAGATATCTAATCTATAGATATCTCTAGATAGCATAGATAT CTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATC TCTAGATATCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGATAT others(931): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGAT ATCTATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAGATA TCTGTGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGATA TCTATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGA TATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATC TATGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGATGTC TATAGATTAGATATCTATGATATCTAGAGATGTCTATAGATTAGATATCT ATGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATT TCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATATCGATATCTAGAGATAT CTATAGATTAGATATCTATATCTAGAGATATCTATAGATTAGATATCTAT GATATCTCGAGATATCTATAGATTAGATATCTATGATATCTCGAGATATC TATAGATTAGATATCTATGATATCTCGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATA TCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0055 a0003c0003t0002g0055	1	346	0.0029	938	c.176 others(957): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATAT CTCTAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATAGA TATCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGAT ATCTCGAGATATCATAGATATCTAATCTATAGATATCTCTAGATATAGAT ATCTAATCTATAGATATCTCTAGATATCGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATA TCTAATCTATAGAAATCTCTAGACATCATAGATATCTAATCTATAGAAAT CTCTAGACATCATAGATATCTAATCTATAGACATCTCTAGATATCATAGA TATCTAATCTATAGACATCTCTAGATATAGATATCTAATCTATAGATATC TCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGAT ATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATA TCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCTATC TAATCTATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCCAATCTATAGATATCTCTAGATATAGATATCCAATCTATAGATATCTC TAGATATCACAGATATCTAATCTATAGATATCTCTAGATAGCATAGATAT CTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATC TCTAGATATCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109354358	T T	TATGATAT others(931): Show TATGATATCTAGAGATATCTATAGATTAGATATCTATGCTATCTAGAGAT ATCTATAGATTAGATATCTGTGATATCTAGAGATATCTATAGATTGGATA TCTATATCTAGAGATATCTATAGATTGGATATCTATGATATCTAGAGATA TCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATGT CTATGATATCTAGAGATATCTATAGATTAGATAGATATCTAGAGATATCT ATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATC TATATCTAGAGATGTCTATAGATTAGATATCTATGATATCTAGAGATGTC TATAGATTAGATATCTATGATGTCTAGAGATTTCTATAGATTAGATATCT ATGATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATA TCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGATATCTA TAGATTAGATATCTATGATATCTCGAGATATCTATAGATTAGATATCTAT GATATCTCGAGATATCTATAGATTAGATATCTATGATATCTCGAGATATC TATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATA TCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATAT CTATGATATCTAGAGATATCTATAGATTAGATATCTATG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0108 a0003c0003t0002g0108	1	346	0.0029	938	c.176 others(957): Show c.1764+1556_1764+1557insCATAGATATCTAATCTATAGATATCT CTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATAT CTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGA TATCTAATCTATAGATATCTCGAGATATCATAGATATCTAATCTATAGAT ATCTCGAGATATCATAGATATCTAATCTATAGATATCTCGAGATATCATA GATATCTAATCTATAGATATCTCTAGATATAGATATCTAATCTATAGATA TCTCTAGATATCGATATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGAAAT CTCTAGACATCATAGATATCTAATCTATAGAAATCTCTAGACATCATAGA TATCTAATCTATAGACATCTCTAGATATCATAGATATCTAATCTATAGAC ATCTCTAGATATAGATATCTAATCTATAGATATCTCTAGATATCATAGAT ATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATA TCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAG ATATCTAATCTATAGATATCTCTAGATATCTATCTAATCTATAGATATCT CTAGATATCATAGACATCTAATCTATAGATATCTCTAGATATCATAGATA TCTAATCTATAGATATCTCTAGATATCATAGATATCCAATCTATAGATAT CTCTAGATATAGATATCCAATCTATAGATATCTCTAGATATCACAGATAT CTAATCTATAGATATCTCTAGATAGCATAGATATCTAATCTATAGATATC TCTAGATATCAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGAGAG others(931): Show TGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGG GGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGGG AGACAAGGGGGAGAGAAGGGGGAGGGGGGGAGAGGGGGAGAGAAGGGGAG GGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGG GGAGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAG AGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGAGAGGGGG AGAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGG GAGGAGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGGAGAGGGGAGGAGG GGGAGAGGGGGAGGAGGGGGGGAGGGGGGGAGGGGGAGAGGGGGAGAGGG GGAGAGGGGAGGGGGAGGAGGGGGGAGAGGGGAGGAGGGGGAGAGGGGGA GGAGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGA GAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGG GCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGG TGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAG GGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGTGAGAGAGAGAGA GGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGC GGGCAGAGAGAGAGAGAGAGGGCGGGGCAAGAGAGAGAGTGAGAGGGCGA GAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGAGA GAAAGAGGGAGAGAAAGAGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	308	0.0033	938	c.371 others(955): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCTCTTTCT CTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCCT CTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCCGCCCTCTCTCTC TCTCTCTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCT CTTGCCCACCCTCTCTCTCTCTCACCGCCCTCTCTCTCGCCTGCCCTCTC TCTCGCCCGCCCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTC TCTCTTGCCCACCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCT CTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCT CTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCC CTCTCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCCTCCTCCCC CTCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCCCCCCTCCT CCCCCTCTCCCCCTCCTCCCCTCTCCCCCCTCCTCCCCCTCCTCCCCCTC CTCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCT CCTCCACCTCTCCCCCTCTCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTC TCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTC CCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTC CCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCCCTCCCCCTTCTCT CCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTC CCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCC CTTCTCTCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(931): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCT CTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCTC CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	312	0.0032	938	c.306 others(957): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCT TCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCCCCT TCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(931): Show TATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATA TATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAA TATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATACATGTTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	308	0.0033	938	c.-75 others(957): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAACATGTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATAT ATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTA TAAATTAAATATATAAATATATTTATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTAT CTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATATAA ATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	257159	T T	TGTGACTA others(931): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCATCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGTCGCACGGCTTCTGTCCTTTTCCATCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGGACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGT CCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGGG AGCTGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGG GAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTA CGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTA GGAACGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCT GTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGG GGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0076 a0001c0001t0025g0076	1	133	0.0075	938	c.439 others(955): Show c.439-9875_439-9874insGTTCCTAGGGATGGAAAAGGACAGACAC CGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGA TGGAAAAGGACAGACACCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACA CCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGAC ACCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGG GACGGAAAAGGACAGACGCCGTGCAGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGA CGCCGTCCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAG GGATGGAAAAGGACAGACGCCGTGCAGCTCCCCTCATAGGAAGTACGTAG GGTAGTCACATTCCTAGGGATGGAAAAGGACAGAAGCCGTGCGACTCCCC TCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAG ACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTA GGGATGGAAAAGGACAGATGCCGTGCAGCTCCCCTCATAGGAAGTACGTA GGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(931): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACACAGTCGCCTCCACAGGCGACCGCGCACC ACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACA CAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCC ACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCG CGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACA CACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTC GCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGG CGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCAC CACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTC ACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	133	0.0075	938	c.-33 others(949): Show c.-3325_-3324insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTG TGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGTGGTG CGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCT GTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGAC TGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGT GTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGG TCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGA GGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(931): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATATATTATATATTATATAACTATATATTA TATATTATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATATATATTATATATTATA TAACTATATATTATATATATATTATATATTATATAACATATATTATATAT ATATATTATATATTATATAACTATATATTATATATATATATTATATATTA TATAACTATATATTATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	268	0.0037	938	c.73 others(949): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATATATTATATATTA TATAACTATATATTATATATTATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAT ATATTATATATTATATAACTATATATTATATATATATTATATATTATATA ACATATATTATATATATATATTATATATTATATAACTATATATTATATAT ATATATTATATATTATATAACTATATATTATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
TBCD_chr17_82747065_82950914	82848817	T T	TCTGCTGC others(931): Show TCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTC TCCACCTCGATGTCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCC CCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTG TGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCT CGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTTGATGTCCCCCGCT CTGCCTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGCCTGCTGCGTCT TCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATG TCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTG CTGCGTCTTCTCCACCTCGATGTCCCCCTCTGTCTGCTGCGTCTTCTCCA CCTCGATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCC TCTGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGT CTTCTCCACCTTGATGTCCCCCGCTCTGCCTGCTGTGTCTTCTCACCTCG ATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGC CTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCT CCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCC CCCTCTGTCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTG TGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCT CGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTTGATGTCCCCCGCT CTGCCTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG03225.hp1 HG02615.hp1 HG02886.hp1 HG03225.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0132 a0002c0007t0005g0155 a0002c0007t0005g0167 a0002c0007t0005g0132 a0002c0007t0005g0155 a0002c0007t0005g0167	3	318	0.0094	938	c.131 others(959): Show c.1319-21341_1319-21340insTCTGCCTGCTGCGTCTTCTCCACC TCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTC TGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCT TCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTTGATG TCCCCCGCTCTGCCTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGCCT GCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCC ACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCC CTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGTCTGCTGCG TCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCTCG ATGTCCCCCTCTGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCTCTGC CTGCTGCGTCTTCTCCACCTTGATGTCCCCCGCTCTGCCTGCTGTGTCTT CTCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTC CCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCT GCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACC TCGATGTCCCCCTCTGTCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTC TGCCTGCTGTGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGTGTCT TCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTTGATG TCCCCCGCTCTGCCTGCTGTGTCTTCTCACCTCGATGTCCCCCTCTGCCT GCTGCGTCTTCTCCACCTCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCC ACCTCGATGTCCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129828738	A A	AGGAGGGA others(931): Show AGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGGGAGGAAAGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGG AGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGG AGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAGGGAGG GAGGGAGGAAAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGA AAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGAAAGG AGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAG GAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGA AAGGAGGAAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGAAGG AAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	94	0.0106	938	c.79+ others(955): Show c.79+74522_79+74523insCTCCTTTCCTCCCTCCCTCCCTCCCTCC TTTCCTCCCTTCCTTCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTTCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTT CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTC CCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCC TTTCCTCCCTCCCTCCCTCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930666	C C	CAGGGGTT others(931): Show CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTTAGGGAGGCTGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGG AGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCC AGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGG TTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGA GGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCC AGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGG TTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	466	0.0022	938	c.49 others(949): Show c.4924_*4925insTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCC TGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTC CCTAACCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA TCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGC CTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCTA GGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCC CTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCT TGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCC CTAACCCCAGCCTCCCTAACCCTGGCCTCCCTAACCCCAGCCTCCCTAAC CCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4703		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACCA others(931): Show ACACACCACCACACACCCCACACACACCACACAAACCACACACCCTACAC ACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACACC CCACACACACATCACATACCACACACAAACCACACACCCAACACACACAT CACACACCACACACCCCACACACACATCACATACCACACACAAACCACAC ACCCTACACACACCACACACCCCACACACACATCACACACCACACACACC ACACACACCCCACACACACCACACACACATCACACACCACACACACCCCA CACACACCACACACACACATCACACACCACACACACACACACACCCCACA CACACCACACACACACATCACATACCACACACCCGACACACGCCACACAC ACACCACACACCCCACGCACACATCACATACCACACACAAACCACACACC CTACACACACCACACACCCCACACACACCACACACACACCACACACACAT CACATACCACACACAAACCACACACCCAACACACACATCACACACCACAC ACCCCACACACACATCACATACCACACACAAACCACACACCCCACACACA CATCACATACCACACACAAACCACACACCCCACACACAAGCCACACACCC CACACACACATCACATACCACACACCCCCACACACCCCACACACCCCCAC ACACCCCACACACCCCACACACACCACACACCCCACACACACACCACACA CCCCACACACCCCACACACCCCACACACACATCACATACCACACACAAAC CACACACCCTACACACACCACACACCCCACACACACCACACACCCGACAC ACGCCACACACACACCACACACCCCACGCACACATCACATACCACACACA AACCACACACCCTACATACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	338	0.0030	938	c.35 others(957): Show c.35+22419_*35+22420insCACCACACACCCCACACACACCACAC AAACCACACACCCTACACACCCCACACACACCACACAAACCACACACCCT ACACACCCCACACACACCCCACACACACATCACATACCACACACAAACCA CACACCCAACACACACATCACACACCACACACCCCACACACACATCACAT ACCACACACAAACCACACACCCTACACACACCACACACCCCACACACACA TCACACACCACACACACCACACACACCCCACACACACCACACACACATCA CACACCACACACACCCCACACACACCACACACACACATCACACACCACAC ACACACACACACCCCACACACACCACACACACACATCACATACCACACAC CCGACACACGCCACACACACACCACACACCCCACGCACACATCACATACC ACACACAAACCACACACCCTACACACACCACACACCCCACACACACCACA CACACACCACACACACATCACATACCACACACAAACCACACACCCAACAC ACACATCACACACCACACACCCCACACACACATCACATACCACACACAAA CCACACACCCCACACACACATCACATACCACACACAAACCACACACCCCA CACACAAGCCACACACCCCACACACACATCACATACCACACACCCCCACA CACCCCACACACCCCCACACACCCCACACACCCCACACACACCACACACC CCACACACACACCACACACCCCACACACCCCACACACCCCACACACACAT CACATACCACACACAAACCACACACCCTACACACACCACACACCCCACAC ACACCACACACCCGACACACGCCACACACACACCACACACCCCACGCACA CATCACATACCACACACAAACCACACACCCTACATACCCCACACACCCCA CACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871163	C C	CCACACAC others(931): Show CCACACACACCACACAAACCACACACCCTACACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCCCACACACACATCACAT ACCACACACAAACCACACACCCAACACACACATCACACACCACACACCCC ACACACACATCACATACCACACACAAACCACACACCCTACACACACCACA CACCCCACACACACATCACACACCACACACACCACACACACCCCACACAC ACCACACACACATCACACACCACACACACCCCACACACACCACACACACA CATCACACACCACACACACCACACACACCCCACACACACCACACACACAC ATCACATACCACACACCCGACACACGCCACACACACACCACACACCCCAC GCACACATCACATACCACACACAAACCACACACCCTACACACACCACACA CCCCACACACACCACACACACACCACACACACATCACATACCACACACAA ACCACACACCCAACACACACATCACACACCACACACCCCACACACACATC ACATACCACACACAAACCACACACCCCACACACACATCACATACCACACA CAAACCACACACCCCACACACAAGCCACACACCCCACACACACATCACAT ACCACACACCCCCACACACCCCACACACCCCCACACACCCCACACACCCC ACACACACCACACACCCCACACACACACCACACACCCCACACACCCCACA CACCCCACACACACATCACATACCACACACAAACCACACACCCTACACAC ACCACACACCCCACACACACCACACACCCGACACACGCCACACACACACC ACACACCCCACGCACACATCACATACCACACACAAACCACACACCCTACA TACCCCACACACCCCACACACACCACACACCACACACCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00673.hp2 others(11): Show HG00408.hp1 HG00544.hp2 HG00673.hp2 HG01109.hp2 HG01943.hp2 HG01952.hp2 HG02015.hp2 HG02293.hp1 NA18941.hp1 NA18948.hp2 NA18962.hp2 NA18970.hp2 NA18998.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0001g0057 a0001c0001t0001g0059 others(11): Show a0001c0001t0001g0034 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0277 a0001c0001t0002g0045 a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0001t0002g0128 a0001c0001t0002g0153 a0001c0001t0003g0020 a0001c0001t0003g0043 a0001c0001t0003g0079	14	338	0.0414	938	c.35 others(957): Show c.35+22439_*35+22440insCACACAAACCACACACCCTACACACC CCACACACACCACACAAACCACACACCCTACACACCCCACACACACCCCA CACACACATCACATACCACACACAAACCACACACCCAACACACACATCAC ACACCACACACCCCACACACACATCACATACCACACACAAACCACACACC CTACACACACCACACACCCCACACACACATCACACACCACACACACCACA CACACCCCACACACACCACACACACATCACACACCACACACACCCCACAC ACACCACACACACACATCACACACCACACACACCACACACACCCCACACA CACCACACACACACATCACATACCACACACCCGACACACGCCACACACAC ACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCCT ACACACACCACACACCCCACACACACCACACACACACCACACACACATCA CATACCACACACAAACCACACACCCAACACACACATCACACACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCCACACACACA TCACATACCACACACAAACCACACACCCCACACACAAGCCACACACCCCA CACACACATCACATACCACACACCCCCACACACCCCACACACCCCCACAC ACCCCACACACCCCACACACACCACACACCCCACACACACACCACACACC CCACACACCCCACACACCCCACACACACATCACATACCACACACAAACCA CACACCCTACACACACCACACACCCCACACACACCACACACCCGACACAC GCCACACACACACCACACACCCCACGCACACATCACATACCACACACAAA CCACACACCCTACATACCCCACACACCCCACACACACCACACACCACACA CCACACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(931): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATAATATATATTATTATATGTTATTATATATAATAATATAATA TATATTATTATATGTTATTATATATAATAATATATATTATTATATGTTAT TATATATAATAATATATATTATTATATGTTATTATATATAATAATATAAT ATATATTATTATATGTTATTATATATAATAACATATTATATATTATGTTA TTATATATAATAACATAATATATATTATATGTTATTATATATAATAACAT AATATATATTATTATATGTTATTATATATAATAACATAATATATATTATT ATATGTTATTATATATAATAACATAATATATATTATTATATGTTATTATA TATAATAACATAATATATATTATTATATGTTATTATATATAATAACATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATATATTATATTATTATATGTTATTATATATAATAATATAATA TATATTATTATATGTTATTATATATAATATATATTATATTATATATAATA ATATAATATATATTATATTATTATATATAATAATATAATATATATTATTA TATATTATATATTATTATATATAATATATATATAATTATATTATTATATA TTATTATATATAATATATATAATTATATATATATTATATATATTATATAT AATAATAATATATATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19091.hp1 NA18939.hp2 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0219 a0002c0003t0002g0220	2	238	0.0084	938	c.392 others(955): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATATTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATGTTATTATATATAATAACATATAATAATATATATTATGTTATTATATA TAATAACATATAATAATATATATTATGTTATTATATATAATAACATATAA TAATATATATTATGTTATTATATATAATAACATATAATATATATTATGTT ATTATATATAATAACATAATATATAATATGTTATTATATATAATAACATA TAATAATATATATTATATTATTATATATAATAACATATAATAATATATAT TATTATATATAATAACATATAATAATATATATTATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATATA TTATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATATTATTATATATAATAACATAT AATAATATATATTATATTATTATATATAATAACATATAATAATATATATT ATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(931): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATAATATATATTATTATATGTTATTATATATAATAATATAATA TATATTATTATATGTTATTATATATAATAATATATATTATTATATGTTAT TATATATAATAATATATATTATTATATGTTATTATATATAATAATATAAT ATATATTATTATATGTTATTATATATAATAACATATTATATATTATGTTA TTATATATAATAACATAATATATATTATATGTTATTATATATAATAACAT AATATATATTATTATATGTTATTATATATAATAACATAATATATATTATT ATATGTTATTATATATAATAACATAATATATATTATTATATGTTATTATA TATAATAATATAATATATATTATTATATGTTATTATATATAATAACATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATATATTATATTATTATATGTTATTATATATAATAATATAATA TATATTATTATATGTTATTATATATAATATATATTATATTATATATAATA ATATAATATATATTATATTATTATATATAATAATATAATATATATTATTA TATATTATATATTATTATATATAATATATATATAATTATATTATTATATA TTATTATATATAATATATATAATTATATATATATTATATATATTATATAT AATAATAATATATATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0201 a0002c0003t0002g0201	1	238	0.0042	938	c.392 others(955): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATATTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATATTATTATATATAATAACATATAATAATATATATTATGTTATTATATA TAATAACATATAATAATATATATTATGTTATTATATATAATAACATATAA TAATATATATTATGTTATTATATATAATAACATATAATATATATTATGTT ATTATATATAATAACATAATATATAATATGTTATTATATATAATAACATA TAATAATATATATTATATTATTATATATAATAACATATAATAATATATAT TATTATATATAATAACATATAATAATATATATTATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATATA TTATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATATTATTATATATAATAACATAT AATAATATATATTATATTATTATATATAATAACATATAATAATATATATT ATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(931): Show TATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATA TATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAA TATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATACATGTTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0104 a0001c0001t0013g0104	1	250	0.0040	938	c.82+ others(953): Show c.82+5644_82+5645insTATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAA ATACATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATTTATATATTTAATTTATAGATAAATATATATTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTA TATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATT TAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATA TATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTA TAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(932): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACAAACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACAC CCTCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCAT ACACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCA CACACCCTCCCCCCTCACCCATACACAACCCCCACACCCCCACACCCATA CACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCAC ACACCCTCCCCCCCCACACACCCATACACACACCCCCACACCCCCACCAC ACCCATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCA TCCCCACCACACACCCATACACACACACCCACACACACACCACACCCATA CACACACACCCCCCACACCCCCACACACACCCTCCCTCACACACACCCCC ACCACACACCCATACACACCCCAACCCCCCCACACACACC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0008 a0008	a0008c0031 a0008c0031	a0008c0031t0002 a0008c0031t0002	a0008c0031t0002g0002 a0008c0031t0002g0002	1	248	0.0040	939	c.387 others(958): Show c.3871-3767_3871-3766insGGTGTGTGTGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGGTGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGG GTGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGT GTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTG GGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTG GGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTTGTGTATGGGTGA GGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGG GGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGGG TGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGT GGTGGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTA TGGGTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTTTGTATGTATGG GTGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTG TGTGGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGT GGGAGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTG GGGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGG TGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGG GTGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTG GGTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGT GTGTGTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(932): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCTCCCCTTC TCCTCCTCCCCCTCCTCCTCCCCTCTCCTCCTCCCCCTCTCCTCCTTCCC CTCTCCTCCTCCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCC TTCCCCTCTCCTCCTCCCCCATCCTCCTCCCCCTCTCCTCCTCCCCCTCC CCTCCTCCCCCTCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCTCCTC TCCTCCTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCCTCTCCTCT TCCTCTCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCCTCC TCCTCTCCTCTTCCTCTCCTGCCCCTCCTCCTCTCCTGCCCCTCCTCCTC TCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCT CTCCTCCCCTTCCTCCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCT CCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCT CCTCTCTTCCTTCTCTCCTCCTCTCCTCTTCCTCTCCTTCTCCTCTCCTC CTCCTCTCTTCCTCTCCTCCTCCTCTCCTCTTTTCCTCATCCTCTCCTCC TTCTCCTCTCCTCTGCCTCCTCCTCTCCTCCTCCTTGTCTCCTCCTCCTA CCCTCCTCCTTCCCTCTTCCTCCTCTCCTCCTCCTCTTCTTTTCCTCCTC TCCTCCTTCTTGTCTCCTCCCCGTCCTCTTCTCCTTCCCTCTTCCTCCTC CACTCCTCCTCCTCTCCTCCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCT CTCCTCCTCCACTCCTCCTCTTCCTCCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0215 a0003c0003t0005g0215	1	218	0.0046	939	c.108 others(956): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGA CAAGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGG GAAGGAGGAGGGTAGGAGGAGGAGACAAGGAGGAGGAGAGGAGGAGGCAG AGGAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGA GGAAGAGAGGAGGAGGAGAGGAGAAGGAGAGGAAGAGGAGAGGAGGAGAG AAGGAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAG GAAGAGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAG GAAGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGA GGAGGGGGAGGAGAGGAGGAGGGGCAGGAGAGGAGGAGGGGCAGGAGAGG AAGAGGAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAGGATGAGGGGAGG AGAAGGAGAGGAAGAGGAGAGGAGGAGAGGAGGAAAAGAGGAGGAGGAGA GGAGGAGGAGGAGAGGAGGAGGAGGAGAGGAGGAGGAGGGGGAGGAGGAG AGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGGAGGAGGATGGGGGAGG AGGAGAGGGGAAGGAGGAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGGG GGAGGAGGAGAGGGGAAGGAGGAGAGGGGGAGGAGGAGAGGGGAGGAGGA GGGGGAGGAGGAGAAGGGGAGGAGGAGGTGGAGAGGAGGAGGAGAGGAGG AAGAGGAGCAGAAGAGGAGGAGGAGAGGAGGAGGTGGTGGACAAGAGGAG GAGGAGGAGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
ATG10_chr5_81967023_82261133	82140160	T T	TGCCCGGC others(932): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGTGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGTCCCCCCTGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGC CCCGTCGGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGA GGGTCAGCCCTCCACCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0117 a0002c0002t0004g0117	1	226	0.0044	939	c.217 others(958): Show c.217-24205_217-24204insAGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGTGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTCAGTCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCT CCACCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140160	T T	TGCCCGGC others(932): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGTGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGC CCCGTCGGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGA GGGTCAGCCCTCCACCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0025 a0005c0005t0025	a0005c0005t0025g0102 a0005c0005t0025g0102	1	226	0.0044	939	c.217 others(958): Show c.217-24205_217-24204insAGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGTGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCT CCACCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
CACNA1C_chr12_2047987_2702950	2539870	T T	TTTCATAA others(932): Show TTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GTTTCATAAAGATGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGG GTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGA CTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAG GGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATA AAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAG GCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTT AAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTA AGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTT TCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	104	0.0096	939	c.139 others(960): Show c.1391-10044_1391-10043insCTTAAGGAGGGTTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAA AGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTA AGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTT CATAAAGATGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAG GCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTT AAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTA AGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTT TCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGA TGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAG GGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGG ACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGA GGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCAT AAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCA GGCAGGGTTTAAGGA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185766	C C	CATAGGGC others(932): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGC ATGCATAGGGCCGGGGGCAGGGTGTGTACGGGGCGGGTGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAG ACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGT ACGTGGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCG GAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	338	0.0030	939	c.300 others(956): Show c.300-9206_300-9205insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCAGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCAT GCATAGGGCCGGAGGCGGGGTACGTGGGGGGGCGGGCGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CDA_chr1_20584097_20623903	20623746	G G	GAAGTGCT others(932): Show GAAGTGCTGGGATTACAGGCATAAGCCACCGCGCCTGGCCAAGCGTGTGT TCTATTGTCCAGCACTGTCTGTGATTTTTAGGACCCTAAAGCACAGTCCC AGATTCCCGTGGAAATTAACAGAAGCATGTATATGTCTGCTGCTCTGGCC AGCTGCTGCTAATTGCTCATGTAAACCATGTGACTCTTTAGTGTTTCCTT TTGGCAGGGAGGAGAGCACGGCTATAACTGACAGATATTCGGGGTACTTT GGATCTCTGTGTCTGAAATAAAGCCAGAGAACACTGTTCAAGAATAAATA ATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CAGTCTGCAGTCCGGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAGAATAAATAATGGAAAAAACAATGGAATGGC CTAATAAGTCTCTCATGTGTTTAATTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTTGG CTCACTACAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTGT TTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCT CGATCTCCTAACCTCGTGATCCACCCACCTTGGCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02145.hp2 NA20752.hp2 HG01192.hp2 HG02145.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0270 a0001c0002t0002g0273 a0001c0002t0004g0238 a0001c0002t0002g0270 a0001c0002t0002g0273 a0001c0002t0004g0238	3	418	0.0072	939	c.51 others(950): Show c.5178_*5179insAAGTGCTGGGATTACAGGCATAAGCCACCGCGCC TGGCCAAGCGTGTGTTCTATTGTCCAGCACTGTCTGTGATTTTTAGGACC CTAAAGCACAGTCCCAGATTCCCGTGGAAATTAACAGAAGCATGTATATG TCTGCTGCTCTGGCCAGCTGCTGCTAATTGCTCATGTAAACCATGTGACT CTTTAGTGTTTCCTTTTGGCAGGGAGGAGAGCACGGCTATAACTGACAGA TATTCGGGGTACTTTGGATCTCTGTGTCTGAAATAAAGCCAGAGAACACT GTTCAAGAATAAATAATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCAGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCTGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATAAATAATGGAAA AAACAATGGAATGGCCTAATAAGTCTCTCATGTGTTTAATTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGAGATCTTGGCTCACTACAAGCTCCGCCTCCTGGGTTCATGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCA CGCCCAGCTAATTGTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGT TAGCCAGGATGGTCTCGATCTCCTAACCTCGTGATCCACCCACCTTGGCC TCCCA	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding		4844		chr1	TogoVar
CDA_chr1_20584097_20623903	20623746	G G	GAAGTGCT others(932): Show GAAGTGCTGGGATTACAGGCATAAGCCACCGCGCCTGGCCAAGCGTGTGT TCTATTGTCCAGCACTGTCTGTGATTTTTAGGACCCTAAAGCACAGTCCC AGATTCCCGTGGAAATTAACAGAAGCATGTATATGTCTGCTGCTCTGGCC AGCTGCTGCTAATTGCTCATGTAAACCATGTGACTCTTTAGTGTTTCCTT TTGGCAGGGAGGAGAGCACGGCTATAACTGACAGATATTCGGGGTACTTT GGATCTCTGTGTCTGAAATAAAGCCAGAGAACACTGTTCAAGAATAAATA ATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CAGTCTGCAGTCCGGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAGAATAAATAATGGAAAAAACAATGGAATGGCC TAATAAGTCTCTCATGTGTTTAATTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTTGG CTCACTACAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTGT TTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCT CGATCTCCTAACCTCGTGATCCACCCACCTTGGCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0200 a0001c0002t0004g0200	1	418	0.0024	939	c.51 others(950): Show c.5178_*5179insAAGTGCTGGGATTACAGGCATAAGCCACCGCGCC TGGCCAAGCGTGTGTTCTATTGTCCAGCACTGTCTGTGATTTTTAGGACC CTAAAGCACAGTCCCAGATTCCCGTGGAAATTAACAGAAGCATGTATATG TCTGCTGCTCTGGCCAGCTGCTGCTAATTGCTCATGTAAACCATGTGACT CTTTAGTGTTTCCTTTTGGCAGGGAGGAGAGCACGGCTATAACTGACAGA TATTCGGGGTACTTTGGATCTCTGTGTCTGAAATAAAGCCAGAGAACACT GTTCAAGAATAAATAATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCAGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCTGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAATAAATAATGGAAAA AACAATGGAATGGCCTAATAAGTCTCTCATGTGTTTAATTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGAGATCTTGGCTCACTACAAGCTCCGCCTCCTGGGTTCATGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCA CGCCCAGCTAATTGTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGT TAGCCAGGATGGTCTCGATCTCCTAACCTCGTGATCCACCCACCTTGGCC TCCCA	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding		4844		chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(932): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTCC CTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTC CTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCT CTTCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTC TCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTC TTCCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCT TCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCC TCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCC CTCCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTC TCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCC TCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	320	0.0031	939	c.380 others(956): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCC CCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCC TCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTC CCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCT CTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTC CCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCC CTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTC TCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCC CTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCC CCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCC CTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(932): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCTCCACCAT CACCACCACCTCCACTATCACCACCAGCTCCACCATCACCACCACCTCCA CCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACC TCCTCCACTACCACCACCATCTTCACCATCACCACCACCTCCACCATCAC CACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCACCACCT CCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCATC ACCTCCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCATCACCTCCACCACCACCACTTCC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCACCT CCTCCACTACCACCACCATCTTCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCACCACCACCACCTCCTTCACCATCACCATCAC CACCACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTTCACCA TCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCCTC ACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCC CACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0047 a0047	a0047c0146 a0047c0146	a0047c0146t0001 a0047c0146t0001	a0047c0146t0001g0013 a0047c0146t0001g0013	1	256	0.0039	939	c.323 others(958): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACTACCACCACCATCTTCA CCATCACCACCACCTCCACCATCACCACCACCTCCACTATCACCACCAGC TCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTC CTTCACCATCACCACCACCACCTCCTCCACTACCACCACCATCTTCACCA TCACCACCACCTCCACCATCACCACCACCTCCACTATCACCACCACCTCC ACCATCACCACCACCACCACCTCCACCACCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCATCACCTCCACCACCACCACTTCCACCATCA CCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAT CACCTCCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCA TCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCACCACCACCACCACCTCCTCCACTACCACCACCATCTTCACCAT CACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCA CCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACCTCC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCCTCACCACCTTCTCCACCACCACCATCTTCA CCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCT ATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
FMN2_chr1_240086883_240480187	240185119	C C	CCCCCTTC others(932): Show CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0116 a0003c0116	a0003c0116t0003 a0003c0116t0003	a0003c0116t0003g0115 a0003c0116t0003g0115	1	174	0.0058	939	c.193 others(958): Show c.1931-3038_1931-3037insTACCTTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399223	C C	CCACCACC others(932): Show CCACCACCACCACCACCACCATCACCACCACCATCACCACCATCACCATC ATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCGCCGC CACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCA CCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCATC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCA CCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACC ATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCAC CACCACCACCATCACCATCATCACCGCCACCACCACCACCACCACCATCA TCACCACCACCACCACCACCACCACCATCACCATCATCACCGCCACCACC ACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCACCAT CATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCACCA CCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCATC ACCGCCACCACCACCACCACCATCACCACCACAACCACCACCACCACCAC CATCACCACCACTACCACCACCACCACCACCATCACCACCACCACTACCA TCATCACCACCACCACCACCACCACCACCATCACCATCACCACCACCACC ACCATCACCATCACCACCACCACCACCATCACCATCATCACCACCATCAC CGCCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCA CCACCACTACCATCATCACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	314	0.0032	939	c.-25 others(956): Show c.-25+2320_-25+2321insCCATCACCACCACCATCACCACCATCAC CATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCG CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CATCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCACC ATCATCACCACCACCACCACCACCACCACCATCACCATCATCACCGCCAC CACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCA CCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCACC ACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCAT CATCACCGCCACCACCACCACCACCATCACCACCACAACCACCACCACCA CCACCATCACCACCACTACCACCACCACCACCACCATCACCACCACCACT ACCATCATCACCACCACCACCACCACCACCACCATCACCATCACCACCAC CACCACCATCACCATCACCACCACCACCACCATCACCATCATCACCACCA TCACCGCCACCATCACCATCACCACCACCACCACCACCACCACCACCATC ACCACCACCACTACCATCATCACCACCACCACCACCATCACCATCACCAC CACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(932): Show TAATATATATATGGAATATATATATACGGAATATATATATAATATATATG GAATATATATAAACGGAATATATATATAATATATATACGGAATATATATA TACGGAATATATATAATATATATACGGAATATATATATAATATATATATA ATATATATACGGAATATATATATAATATATAAATGGAATATATATACGGA ATATATATATAATATATAAATGGAATATATATATACGGAATATATATATA ATATATATATGGAATATATATATACGGAATATATATATAATATATATATG GAATATATATATACGGAATATATATATAATATATATATGGAATATATATA TACGGAATATATATATAATATATATATGGAATATATATATACGGTATATA TATAATATATATATGGAATATATATATACGGAATATATATATAATATATA TATGGAATATATATATACGGAATATATATATAATATATATATGGAATATA TATACGGAATATATATATATGGAATATATATATATGGAATGTGTATATAT GGAATATATATATATGGAATGTGTATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATATGGAATATATATATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0137 a0001c0001t0012g0137	1	323	0.0031	939	c.-21 others(950): Show c.-2147_-2146insAATATATATATGGAATATATATATACGGAATATA TATATAATATATATGGAATATATATAAACGGAATATATATATAATATATA TACGGAATATATATATACGGAATATATATAATATATATACGGAATATATA TATAATATATATATAATATATATACGGAATATATATATAATATATAAATG GAATATATATACGGAATATATATATAATATATAAATGGAATATATATATA CGGAATATATATATAATATATATATGGAATATATATATACGGAATATATA TATAATATATATATGGAATATATATATACGGAATATATATATAATATATA TATGGAATATATATATACGGAATATATATATAATATATATATGGAATATA TATATACGGTATATATATAATATATATATGGAATATATATATACGGAATA TATATATAATATATATATGGAATATATATATACGGAATATATATATAATA TATATATGGAATATATATACGGAATATATATATATGGAATATATATATAT GGAATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATATGGAATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATGGAATATATATATATGGAATATATATATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(932): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGGC AGGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACG GGCAGGGAGGACGGGCAGGGAGGAGGGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGGGGGCAGGGGGAGGGGCAGGGGGAGGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAAACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGGGGCAGGGAGGA CGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	204	0.0049	939	c.978 others(956): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGGCAGGGGAGGAGAAACGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGGCA GGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGGGGGCAGGGGGAGGGGCAGGGGGA GGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAAACGGGCAGGG AGGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF25_chr6_167992671_168050091	167997284	G G	GGGGGCGG others(932): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGA TGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0220 a0003c0004t0001g0220	1	375	0.0027	939	c.-21 others(950): Show c.-2185_-2184insGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGAC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGAC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		386		chr6	TogoVar
LAMA5_chr20_62304065_62372312	62349743	G G	GTGGGGGT others(932): Show GTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATGGT GGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTGGGGGTGATGACGG TGATGATGGGGGTGGGGGGGTGATGACGGTGATGATGGGGGTGGGGGGGG TGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGG TGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGAT GGTGGGGGTGGGGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTAA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGAT GACGGTGATGGCGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGA CGATGATGGCGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACAGTG ATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTAGGGGTGA TGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATG GTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGGGGGTGATGACGGT GGGGGTGGGGGTGATGACGGTGGGGGTGATGACGGTGGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0062 a0003c0062	a0003c0062t0001 a0003c0062t0001	a0003c0062t0001g0049 a0003c0062t0001g0049	1	186	0.0054	939	c.956 others(956): Show c.956+1960_956+1961insTCCCACCGTCATCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACCCCCACCCCCACCATCATCAC CCCCACCATCACCATCATCACCCCCACCCCCACCCCCACCCCCACCCCCA CCCCCACCATCATCACCCCTACCATCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCGCCATCACTGTCATCACCCCCACCGCCATCACCGTCATCACCC CCGCCATCATCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACC GCCATCACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCACCCCCACCCCCACCGTCATCACCCCCA CCCCCACCGTCATTACCCCCACCATCATCACCCTCACCATCATCACCCCC CCCACCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCC CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACA TCACCGTCATCACCCCCCCCACCCCCATCATCACCGTCATCACCCCCCCA CCCCCATCATCACCGTCATCACCCCCACCGTCATCACCCCCAGCCCCACC GTCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCAC CCCCACCCCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(932): Show TGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTC GCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCC CCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCAC GTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTG CCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCACTGCCACGTCCC CTCATCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCAC GTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACT GCCACGTCCCCTCATCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCC CACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTGGCCCCA TCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCG CCCCGTCCCCACTGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCC CCTCATCCCGTCCCCACTGCCACGTCCCCTGGCCCCATCCCCCACTGCCA CGTCCCCTCATCCCGTCCCCACTGCCACGTCCCCTGGCCCCATCCCCCAC TGCCACGTCCCCTCATCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCCTCATCCC GTCCCCTACTGCCACATCCCACCACCACGTCCACACTGCCATGTCCCCTC GCCCCATCCCCCTGCCACGTCCACTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18954.hp2 HG01074.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0201 a0001c0001t0002g0112 a0001c0001t0002g0201	2	264	0.0076	939	c.180 others(958): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGTGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGAT GAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGAC GGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTG GGGACGGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGAC GTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGACGGGGCGAG GGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGA TGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGT GGGGACGGGATGAGGGGACGTGGCAGTGGGGACGTGGCAGTGGGGACGGG GCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC AGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACG TGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGG GACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGC GAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MCF2L_chr13_112964214_113104742	112972798	T T	TGGATGGA others(932): Show TGGATGGATGACTGGGTGACTGGATGGATGGGTAGGTGGAGGATGGATGG ATGGATGGATAGATGGGTGGGTAGATGGGTGGGTGGATGCATCAATGAGC AGATAGATGGATGAGTGGATGGATGGATGCATAGATGAATGGGTGGATGA ATGGGTAGATGGGTAGCTGGATGGATGTGTGGGTGGGTGGATGAGTAGAT GTGTGGGTGGGTGAGTGGATGGATGATGATGGATGGATAGATGGATGGGT GGCTGGATGGATGAATGAGTGAGTGGGTGGATGGATGGGTGAGTGAATGG ATGGATGATGGATGGATGGAAGGTGGATGGATGAATGGGTAGATAGATAG GTGGATGGATGGATGAGAAGATGAATGGATGTAAGGTAGATGGATGGATG GGTGAGTGGGTGAATAGGTATGTGAACACATGGATGACTAGACAAATGGG TGGGTGGGTGGATGGATGGATGAATAGGTGGGTGGTAGATGGGTGGGTGA GTGGATGGATGCATAAGTGGATGTATGGATGGATGAATGGATGACTTGAT GGATGGATGGATGATGATAGATGGGTGGGTGGGTGGGTGGATGGATAGAT GGATGTGTGGGTGGATGGACAGAATGACTGGATGGACAGGTGGGTGGATG CATAGATGAATGGATGCATGGATGAGTGGATGGATGGATGGGTAGATGGA TGGGTGGGTGGGTAGATAAGTGGATGGATGGATGGATGGATGGATGACCG GATGGATGGATGATGATGGATGGGTGGGTGAGTGGGTGGGTGGATGGATA GATGACTGGATGGATGGATGAATGATGATGGATGAATGGATGGGTAGGTA GATGGATGGATGAATGGATGGGTGGATGTGTAGGTGGATGAGTGATTGGA TGTATGGATGAATGGGTGGGTGGGTGGGTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp2 HG01257.hp2 others(14): Show HG00733.hp2 HG01175.hp2 HG01257.hp2 HG01517.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02622.hp2 HG03195.hp2 HG03209.hp2 HG06807.hp1 NA18946.hp1 NA18950.hp1 NA19085.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0016 a0004c0011	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0020 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0005t0029 a0001c0006t0030 a0001c0008t0004 a0001c0016t0004 a0004c0011t0002	a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0094 others(14): Show a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0002t0002g0093 a0001c0003t0001g0086 a0001c0003t0001g0092 a0001c0003t0020g0089 a0001c0004t0001g0102 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0004t0005g0095 a0001c0005t0001g0088 a0001c0005t0029g0091 a0001c0006t0030g0096 a0001c0008t0004g0083 a0001c0016t0004g0085 a0004c0011t0002g0090	17	116	0.1466	939	c.79+ others(954): Show c.79+3343_79+3344insTGGATGACTGGGTGACTGGATGGATGGGTA GGTGGAGGATGGATGGATGGATGGATAGATGGGTGGGTAGATGGGTGGGT GGATGCATCAATGAGCAGATAGATGGATGAGTGGATGGATGGATGCATAG ATGAATGGGTGGATGAATGGGTAGATGGGTAGCTGGATGGATGTGTGGGT GGGTGGATGAGTAGATGTGTGGGTGGGTGAGTGGATGGATGATGATGGAT GGATAGATGGATGGGTGGCTGGATGGATGAATGAGTGAGTGGGTGGATGG ATGGGTGAGTGAATGGATGGATGATGGATGGATGGAAGGTGGATGGATGA ATGGGTAGATAGATAGGTGGATGGATGGATGAGAAGATGAATGGATGTAA GGTAGATGGATGGATGGGTGAGTGGGTGAATAGGTATGTGAACACATGGA TGACTAGACAAATGGGTGGGTGGGTGGATGGATGGATGAATAGGTGGGTG GTAGATGGGTGGGTGAGTGGATGGATGCATAAGTGGATGTATGGATGGAT GAATGGATGACTTGATGGATGGATGGATGATGATAGATGGGTGGGTGGGT GGGTGGATGGATAGATGGATGTGTGGGTGGATGGACAGAATGACTGGATG GACAGGTGGGTGGATGCATAGATGAATGGATGCATGGATGAGTGGATGGA TGGATGGGTAGATGGATGGGTGGGTGGGTAGATAAGTGGATGGATGGATG GATGGATGGATGACCGGATGGATGGATGATGATGGATGGGTGGGTGAGTG GGTGGGTGGATGGATAGATGACTGGATGGATGGATGAATGATGATGGATG AATGGATGGGTAGGTAGATGGATGGATGAATGGATGGGTGGATGTGTAGG TGGATGAGTGATTGGATGTATGGATGAATGGGTGGGTGGGTGGGTGGATG GATGGAGGA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	112972798	T T	TGGATGGA others(932): Show TGGATGGATGACTGGGTGACTGGATGGATGGGTAGGTGGAGGATGGATGG ATGGATGGATAGATGGGTGGGTAGATGGGTGGGTGGATGCATCAATGAGC AGATAGATGGATGAGTGGATGGATGGATGCATAGATGAATGGGTGGATGA ATGGGTAGATGGGTAGCTGGATGGATGTGTGGGTGGGTGGATGAGTAGAT GTGTGGGTGGGTGAGTGGATGGATGATGATGGATGGATAGATGGATGGGT GGCTGGATGGATGAATGAGTGAGTGGGTGGATGGATGGGTGAGTGAATGG ATGGATGATGGATGGATGGAAGGTGGATGGATGAATGGGTAGATAGATAG GTGGATGGATGGATGAGAAGATGAATGGATGTAAGGTAGATGGATGGATG GGTGAGTGGGTGAATAGGTATGTGAACACATGGATGACTAGACAAATGGG TGGGTGGGTGGATGGATGGATGAATAGGTGGGTGGTAGATGGGTGGGTGA GTGGATGGATGCATAAGTGGATGTATGGATGGATGGATGGATGACTTGAT GGATGGATGGATGATGATAGATGGGTGGGTGGGTGGGTGGATGGATAGAT GGATGTGTGGGTGGATGGACAGAATGACTGGATGGACAGGTGGGTGGATG CATAGATGAATGGATGCATGGATGAGTGGATGGATGGATGGGTAGATGGA TGGGTGGGTGGGTAGATAAGTGGATGGATGGATGGATGGATGGATGACCG GATGGATGGATGATGATGGATGGGTGGGTGAGTGGGTGGGTGGATGGATA GATGACTGGATGGATGGATGAATGATGATGGATGAATGGATGGGTAGGTA GATGGATGGATGAATGGATGGGTGGATGTGTAGGTGGATGAGTGATTGGA TGTATGGATGAATGGGTGGGTGGGTGGGTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01070.hp1 others(28): Show HG00323.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01243.hp1 HG01256.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02074.hp2 HG02129.hp1 HG02145.hp2 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0015 a0003c0009 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0023 a0001c0001t0028 a0001c0002t0003 a0001c0002t0015 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0005t0001 a0001c0006t0002 a0001c0006t0009 a0001c0012t0031 a0001c0015t0001 a0003c0009t0011 a0005c0014t0024	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0002g0008 a0001c0001t0003g0099 a0001c0001t0006g0010 a0001c0001t0006g0027 a0001c0001t0007g0026 a0001c0001t0023g0018 a0001c0001t0028g0098 a0001c0002t0003g0023 a0001c0002t0015g0007 a0001c0003t0002g0019 a0001c0004t0001g0025 a0001c0004t0001g0103 a0001c0004t0003g0009 a0001c0004t0005g0011 a0001c0004t0005g0012 a0001c0005t0001g0020 a0001c0006t0002g0029 a0001c0006t0009g0028 a0001c0012t0031g0021 a0001c0015t0001g0013 a0003c0009t0011g0101 a0005c0014t0024g0100	31	116	0.2672	939	c.79+ others(954): Show c.79+3343_79+3344insTGGATGACTGGGTGACTGGATGGATGGGTA GGTGGAGGATGGATGGATGGATGGATAGATGGGTGGGTAGATGGGTGGGT GGATGCATCAATGAGCAGATAGATGGATGAGTGGATGGATGGATGCATAG ATGAATGGGTGGATGAATGGGTAGATGGGTAGCTGGATGGATGTGTGGGT GGGTGGATGAGTAGATGTGTGGGTGGGTGAGTGGATGGATGATGATGGAT GGATAGATGGATGGGTGGCTGGATGGATGAATGAGTGAGTGGGTGGATGG ATGGGTGAGTGAATGGATGGATGATGGATGGATGGAAGGTGGATGGATGA ATGGGTAGATAGATAGGTGGATGGATGGATGAGAAGATGAATGGATGTAA GGTAGATGGATGGATGGGTGAGTGGGTGAATAGGTATGTGAACACATGGA TGACTAGACAAATGGGTGGGTGGGTGGATGGATGGATGAATAGGTGGGTG GTAGATGGGTGGGTGAGTGGATGGATGCATAAGTGGATGTATGGATGGAT GGATGGATGACTTGATGGATGGATGGATGATGATAGATGGGTGGGTGGGT GGGTGGATGGATAGATGGATGTGTGGGTGGATGGACAGAATGACTGGATG GACAGGTGGGTGGATGCATAGATGAATGGATGCATGGATGAGTGGATGGA TGGATGGGTAGATGGATGGGTGGGTGGGTAGATAAGTGGATGGATGGATG GATGGATGGATGACCGGATGGATGGATGATGATGGATGGGTGGGTGAGTG GGTGGGTGGATGGATAGATGACTGGATGGATGGATGAATGATGATGGATG AATGGATGGGTAGGTAGATGGATGGATGAATGGATGGGTGGATGTGTAGG TGGATGAGTGATTGGATGTATGGATGAATGGGTGGGTGGGTGGGTGGATG GATGGAGGA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(932): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCC CTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTC CCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCC TCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCC CTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCC CCTCCCCCCTCCCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCC TCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCG CCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCT TCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTC CCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCC GCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCC TCCCCCTCCCTTCCCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCT GCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCC CTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCC TCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18966.hp1 NA19011.hp1 HG02056.hp1 NA18966.hp1 NA19011.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0006 a0003c0032 a0002c0002 a0002c0006 a0003c0032	a0002c0002t0002 a0002c0006t0002 a0003c0032t0001 a0002c0002t0002 a0002c0006t0002 a0003c0032t0001	a0002c0002t0002g0254 a0002c0006t0002g0078 a0003c0032t0001g0262 a0002c0002t0002g0254 a0002c0006t0002g0078 a0003c0032t0001g0262	3	278	0.0108	939	c.115 others(956): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCC TCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCC CTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCC CCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCT TCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCC TCCCCTCCCCCCTCCCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTC CCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTC CCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCC CCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCC CTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTC CCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTT CCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCC TCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCT TCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCC TCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCC CTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOM2_chr8_2040046_2150456	2085732	T T	TGTCGTGA others(932): Show TGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCC CCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGG CCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTT GTGGCCCCCCACAGTTGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCT CTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGT CGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCA CTGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTG GCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACAGTCGTGATCTCTT TGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATC TCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGT GATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTT GTGATCTCTGTGTGGCCCCCCACAGTTGTGATCTCTGCGTGGCCCCCCAC TGTCGTGATCTCTGCGTGGCCTCCCACTGTCGTGATCTCTGCGTGGCCCC ACTGTTGTGATCTCTGTGTGGCCCCCCACAGTTGTGATCTCTGCGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGT GGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCT GCGTGGCCCCACTGTTGTGATCTCTGTGTGGCCCCCCACA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	403	0.0025	939	c.164 others(956): Show c.1644+344_1644+345insCGTGATCTCTGCGTGGCCCCCCACTGTT GTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCAC TGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCC CCACTGTTGTGATCTCTTTGTGGCCCCCCACAGTTGTGATCTCTGCGTGG CCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGC GTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCT CTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTG ATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGT CGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCC CCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTG GCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATC TCTGCGTGGCCCCACTGTTGTGATCTCTGTGTGGCCCCCCACAGTTGTGA TCTCTGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCTCCCACTGTC GTGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGTGTGGCCCCCCACAG TTGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGTGTGG CCCCCCACAGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
PARP10_chr8_143972158_143991460	143981307	T T	TGGTGGTG others(932): Show TGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGAT GGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACA GTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTG AAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGG TGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGT GGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTG AGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAG GTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGA TGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGT GACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGT GGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATG GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19084.hp1 NA19091.hp2 NA18994.hp2 NA19084.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0259 a0002c0002t0002g0010 a0002c0002t0002g0259	3	380	0.0079	939	c.255 others(958): Show c.2556+1624_2556+1625insTTCACCACTCACTGTCGTCACCACCA TCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCAT CACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACC ACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTC GTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCA CCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTT CACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCAC TGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACC ACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCTTCACCACTCACTGTCGTCACCACCATCACCACCACCTTCAC CACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGT CGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACC ATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCA TCACCTTCACCACTCACTGTCGTCACCACCATCACCACCACCTTCACCAC TCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGT CACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCA CCTTCACCACTCACTGTCGTCACCACCATCACCATCACCTTCACCACTCA CTGTCGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCAC CATCACCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	AGGGCATG others(932): Show AGGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCATGTATGGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTATGTGGTATGTGGGGCATGTG TGTGGTGTATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCA TGGTGTGTATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGG CCATGTGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTG TGGTGTGTATGGCGTGGTGTGTGTTGTGTATGTGGTGTCTGGTGTGTGTG GTGTAGTGTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGT ATGGTATGTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTG GTGTATGTGGCATGCACAGGATATGTGGTGGTGTGTGTGTGGTATGTATG GTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATG TGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTG TGTATTGTGTGGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTG GTGTGGGAGGCAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTT GTGTATGTGGTGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGAGTG GTGTGTATGGTGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02293.hp1 HG02738.hp2 others(1): Show HG01257.hp2 HG02293.hp1 HG02738.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0037 a0002c0002t0002g0026 a0002c0002t0002g0035 others(1): Show a0001c0001t0001g0037 a0002c0002t0002g0026 a0002c0002t0002g0035 a0002c0002t0002g0038	4	314	0.0127	939	c.671 others(956): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACTCACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATACCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCAGACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCCACATACCACATACACCACACACATGCAC CACATATACCCCCTACACCACACACACACAGAACACACCACACACCCCAT ACATGCCACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACA CACACACACTACACCACACACCTCATACATGCCACCCACACCACACACAC ACCATACATACCACACACACCACACCATACACACCACATACACGCCACGC ATGCCATACACACCACACACTCCCGCACACCACATACACACCCCTCACAC TACACATGCCC	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	AGGGCATG others(932): Show AGGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCATGTATGGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTATGTGGTGTGTGGGGCATGTG TGTGGTGTATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCA TGGTGTGTATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGG CCATGTGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTG TGGTGTGTATGGCGTGGTGTGTGTTGTGTATGTGGTGTCTGGTGTGTGTG GTGTAGTGTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGT ATGGTATGTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTG GTGTATGTGGCATGCACAGGATATGTGGTGGTGTGTGTGTGGTATGTATG GTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATG TGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTG TGTATTGTGTGGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTG GTGTGGGAGGCAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTT GTGTATGTGGTGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGAGTG GTGTGTATGGTGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01074.hp1 others(16): Show HG00140.hp2 HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02895.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp1 HG03471.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0013 a0001c0001 a0002c0002 a0002c0013	a0001c0001t0001 a0002c0002t0002 a0002c0013t0002 a0001c0001t0001 a0002c0002t0002 a0002c0013t0002	a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0047 others(16): Show a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0047 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0013t0002g0011	19	314	0.0605	939	c.671 others(956): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACTCACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATACCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCAGACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCCACACACCACATACACCACACACATGCAC CACATATACCCCCTACACCACACACACACAGAACACACCACACACCCCAT ACATGCCACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACA CACACACACTACACCACACACCTCATACATGCCACCCACACCACACACAC ACCATACATACCACACACACCACACCATACACACCACATACACGCCACGC ATGCCATACACACCACACACTCCCGCACACCACATACACACCCCTCACAC TACACATGCCC	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	AGGGCATG others(932): Show AGGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGTGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCATGTATGGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTATGTGGTGTGTGGGGCATGTG TGTGGTGTATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCA TGGTGTGTATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGG CCATGTGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTG TGGTGTGTATGGCGTGGTGTGTGTTGTGTATGTGGTGTCTGGTGTGTGTG GTGTAGTGTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGT ATGGTATGTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTG GTGTATGTGGCATGCACAGGATATGTGGTGGTGTGTGTGTGGTATGTATG GTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATG TGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTG TGTATTGTGTGGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTG GTGTGGGAGGCAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTT GTGTATGTGGTGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGAGTG GTGTGTATGGTGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19240.hp1 NA21309.hp2 HG02258.hp1 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0083 a0002c0002t0005g0171 a0002c0002t0005g0228 a0002c0002t0005g0083 a0002c0002t0005g0171 a0002c0002t0005g0228	3	314	0.0096	939	c.671 others(956): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACTCACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATACCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCAGACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCCACACACCACATACACCACACACATGCAC CACATATACCCCCTACACCACACACACACAGAACACACCACACACCCCAT ACATGCCACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACA CACACACACTACACCACACACCTCATACATGCCACCCACACCACACACAC ACCATACATACCACACACACCACACCATACACACCACATACACGCCACAC ATGCCATACACACCACACACTCCCGCACACCACATACACACCCCTCACAC TACACATGCCC	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	ATGGCATG others(932): Show ATGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTATGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCATGTATGGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTATGTGGTGTGTGGGGCATGTG TGTGGTGTATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCA TGGTGTGTATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGG CCATGTGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTG TGGTGTGTATGGCGTGGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTG GTGTAGTGTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGT ATGGTATGTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTG GTGTATGTGGCATGCACAGGATATGTGGTGGTGTGTGTGTGCTATGTATG GTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATG TGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTG TGTATTGTGTGGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTG GTGTGGGAGGCAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTT GTGTATGTGGTGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGTGTG GTGTGTATGGTGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp1 HG02809.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0307 a0001c0001t0001g0308	2	314	0.0064	939	c.671 others(956): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACACACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATAGCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCACACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCCACACACCACATACACCACACACATGCAC CACATATACCCCCTACACCACACACACACAGAACACACCACACACCCCAT ACATGCCACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACA CACACACACTACACCACACACCTCATACATGCCACCCATACCACACACAC ACCATACATACCACACACACCACACCATACACACCACATACACGCCACGC ATGCCATACACACCACACACTCCCGCACACCACATACACACCCCTCACAC TACACATGCCA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	ATGGCATG others(932): Show ATGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCATGTATGGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTATGTGGTGTGTGGGGCATGTG TGTGGTGTATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCA TGGTGTGTATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGG CCATGTGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTG TGGTGTGTATGGCGTGGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTG GTGTAGTGTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGT ATGGTATGTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTG GTGTATGTGGCATGCACAGGATATGTGGTGGTGTGTGTGTGCTATGTATG GTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATG TGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTG TGTATTGTGTGGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTG GTGTGGGAGGCAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTT GTGTATGTGGTGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGTGTG GTGTGTATGGTGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(78): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp2 NA18943.hp2 NA18952.hp2 NA18953.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18991.hp1 NA18998.hp2 NA19007.hp2 NA19030.hp2 NA19057.hp2 NA19079.hp1 NA19082.hp1 NA19090.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0014 a0002c0002 others(2): Show a0001c0001 a0001c0014 a0002c0002 a0003c0004 a0008c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0014t0001 a0002c0002t0002 a0003c0004t0001 a0008c0011t0001	a0001c0001t0001g0044 a0001c0001t0001g0138 a0001c0001t0001g0139 others(78): Show a0001c0001t0001g0044 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0305 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0183 a0001c0001t0003g0210 a0001c0001t0003g0224 a0001c0001t0004g0177 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0206 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0220 a0001c0014t0001g0137 a0002c0002t0002g0116 a0002c0002t0002g0132 a0002c0002t0002g0136 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0205 a0002c0002t0002g0209 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0219 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0301 a0002c0002t0002g0304 a0002c0002t0002g0306 a0003c0004t0001g0207 a0003c0004t0001g0215 a0003c0004t0001g0221 a0008c0011t0001g0144	81	314	0.2580	939	c.671 others(956): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACACACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATAGCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCACACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCCACACACCACATACACCACACACATGCAC CACATATACCCCCTACACCACACACACACAGAACACACCACACACCCCAT ACATGCCACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACA CACACACACTACACCACACACCTCATACATGCCACCCACACCACACACAC ACCATACATACCACACACACCACACCATACACACCACATACACGCCACGC ATGCCATACACACCACACACTCCCGCACACCACATACACACCCCTCACAC TACACATGCCA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	ATGGCATG others(932): Show ATGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCATGTATGGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTATGTGGTGTGTGGGGCATGTG TGTGGTGTATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCA TGGTGTGTATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGG CCATGTGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTG TGGTGTGTATGGCGTGGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTG GTGTAGTGTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGT ATGGTATGTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTG GTGTATGTGGCATGCACAGGATATGTGGTGGTGTGTGTGTGGTATGTATG GTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATG TGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTG TGTATTGTGTGGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTG GTGTGGGAGGCAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTT GTGTATGTGGTGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGTGTG GTGTGTATGGTGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	314	0.0032	939	c.671 others(956): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACACACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATACCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCACACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCCACACACCACATACACCACACACATGCAC CACATATACCCCCTACACCACACACACACAGAACACACCACACACCCCAT ACATGCCACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACA CACACACACTACACCACACACCTCATACATGCCACCCACACCACACACAC ACCATACATACCACACACACCACACCATACACACCACATACACGCCACGC ATGCCATACACACCACACACTCCCGCACACCACATACACACCCCTCACAC TACACATGCCA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	ATGGCATG others(932): Show ATGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCATGTATGGGGTGTGTGGTGTGTTGTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTATGTGGTGTGTGGGGCATGTG TGTGGTGTATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCA TGGTGTGTATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGG CCATGTGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTG TGGTGTGTATGGCGTGGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTG GTGTAGTGTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGT ATGGTATGTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTG GTGTATGTGGCATGCACAGGATATGTGGTGGTGTGTGTGTGCTATGTATG GTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATG TGTGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTG TGTATTGTGTGGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTG GTGTGGGAGGCAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTT GTGTATGTGGTGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGTGTG GTGTGTATGGTGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03942.hp2 HG02602.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0023 a0001c0001t0001g0024	2	314	0.0064	939	c.671 others(956): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACACACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATAGCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCACACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCCACACACCACATACACCACACACATGCAC CACATATACCCCCTACACCACACACACACACAACACACCACACACCCCAT ACATGCCACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACA CACACACACTACACCACACACCTCATACATGCCACCCACACCACACACAC ACCATACATACCACACACACCACACCATACACACCACATACACGCCACGC ATGCCATACACACCACACACTCCCGCACACCACATACACACCCCTCACAC TACACATGCCA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(932): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGGAGGGGGGGAGGGGGAGAGGGG GAGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAGGGGGAG AGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAG GGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGA GAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGA AAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGC GAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGT GAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGA GAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGA GTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGA GAAAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	308	0.0033	939	c.371 others(956): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTC TCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCC GCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCC TCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGC CCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGC CCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCAC TCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCC TCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCCTCCCCC TCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCCCCCTCCTCCCCCTC TCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCC CTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCC TTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCT CTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCT CTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCT CCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTC CCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCC CTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(932): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTC CTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCTCTTTCTCT CCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0217 a0002c0002t0008g0217	1	312	0.0032	939	c.306 others(958): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCTCCCCT CTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCCCC TTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(932): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0144	1	304	0.0033	939	c.66+ others(954): Show c.66+3463_66+3464insGCTATAGCTATAAGCTAACTTATAGCTATA GCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 6036 hits)