Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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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
TMEM87B_chr2_112050269_112124314	112114497	T T	TCTACAGA others(865): Show TCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA GGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAA GAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTA CAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCA TAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGA AAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCAT TACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATT CATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACA GAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGC ATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGA TTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTA CAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTA GCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAA GATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTC TACAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATG TAGCATTACAGAAAGATTCATAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0093 a0001c0001t0002g0094	2	316	0.0063	872	c.160 others(891): Show c.1609-1538_1609-1537insGGTAGCATTACAGAAAGATTCATAAC TCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA TGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACA GAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATA ACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAA GATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTA CAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCA TAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGA AAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCAT TACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATT CATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACA GAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGC ATTACAGAAAGATTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGA TTCATAACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTA CAGAAAGAGGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGATGTA GCATTACAGAAAGATTCATAACTCTACAGAAAGATGTAGCATTACAGAAA GATTCATAACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACTA CAGAAAGATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGA	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(865): Show TATACTATTATATCATCATATGATGATATGATACTATTATATCATCATAT GATGATATGATACTATTATATCATCATATGATGATATGATACTATTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGGTGATATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	174	0.0058	872	c.41- others(889): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGGTGATATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCATCACC others(865): Show TCATCACCATCACCACCACCACCACCACCACCACTAGCACTACCACCATC ATAATTACCACCACCATCACCACCACCACCACCACTATCACCATCATCAC CACCACCACCACCACCACTAGCACAACCACAACACTACCACATCACCACC ACCACTACCACTACTACCATCACCATCACCACCACCATCACCACCACCAC CACAATACTACCACATCACCACCACCACCATCATCATCACCACCACTACC ACCACCACTACCACCACCACCACCATCACTACTACCATCACCACCACCAC CACCACCACCACCACCACGACCACCACAACACTACCACATCACCACCACC ACGACCACCACTGCCACCACCACTACCACCACCACCACTACCACCATCGC CACCATCACCACCACATCACCACCACCACCACCACTACTACCACCACCAC CACCATCACCACTACTACCATCACCACTACTACCACCACCACCATCACCA CTACTACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ATCACAATCACCACCACCATCACCACCACCACTACCACCACCACCATCAC CATCATCACCACCACCACCAACACTACTGCCACCACCACTATTACCATCA CCACCACTACTACCACCACCACTACCATAACCACCATCATCACCATCACC ATCATTACTGCTATTATGACCACCATCACTACCACCATTATCACCACCAC CACTAAACTACCACCACTACCTCACTGCCATCATCACCATCACCATTACT AACATCACCATTACTAACATCACCATTATAATACTACCACCATCACTACC ACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	360	0.0056	872	c.24 others(883): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGTGATGATGGTGATGGTGGT GGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGATGGTG GTGGTGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGT AGTAGTGGTGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGT AGTGGTGGTGGTGGTAGTGGTGGTGGCAGTGGTGGTCGTGGTGGTGGTGA TGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GATGGTAGTAGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTAGTGGTGG TGATGATGATGGTGGTGGTGGTGATGTGGTAGTATTGTGGTGGTGGTGGT GATGGTGGTGGTGATGGTGATGGTAGTAGTGGTAGTGGTGGTGGTGATGT GGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGT GATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTATGATGGTGGTAG TGCTAGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
ULK1_chr12_131889622_131928150	131917102	G G	GTTGGGGG others(865): Show GTTGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA TGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGG GTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGG GGGAGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG CTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCT GTGGGATGGGGGTCGGGTTCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0190 a0001c0006t0004g0190	1	344	0.0029	872	c.218 others(887): Show c.2182+41_2182+42insTGGGGGGAGCTCGGAGGCTGTGGGATGGGG CTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGG GGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGA GGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGT GGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCG GAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGGTTCGGCT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(865): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAA ACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAAATATATATTTATATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATA TTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTA TATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	250	0.0040	872	c.82+ others(887): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATT TATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAA TATATATTTATATATTTAGTTTATAAATATATATTTACATATTTAGTTTA TAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTA TAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTA TAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTA TAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATATATAT TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS3_chr4_72275969_72574221	72456223	A A	AGTATGTA others(866): Show AGTATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTAT ATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATTTTAT ATATAGTATGTACTATATATATTTTATATATAGTATGTACTATATATATT TTATATATAGTATGTACATTGTATATACTATATATATATTTTATGTATAG TATGTACTATATATATTTTATGTATAGTATGTACATTGTATATACTATAT ATATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATT TTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTA TATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTAT GTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATA TTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAG TATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGT ATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATA TATTTTATGTATAGTATATATACT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG02055.hp2 others(1): Show HG00639.hp2 HG01106.hp1 HG02055.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 others(1): Show a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138	4	182	0.0220	873	c.505 others(892): Show c.505-41253_505-41252insAGTATATATACTATACATAAAATATA TATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATAC AGTATATATACTATACATAAAATATATATAGTACATACAGTATATATACT ATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATA TATATAGTACATACAGTATATATACTATACATAAAATATATATAGTACAT ACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATATA CTATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAA TATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTAC ATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATA TACTATACATAAAATATATATAGTACATACAGTATATATACTATACATAA AATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGT ACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATA TATACTATACATAAAATATATATAGTACATACTATACATAAAATATATAT ATAGTATATACAATGTACATACTATACATAAAATATATATAGTACATACT ATACATAAAATATATATATAGTATATACAATGTACATACTATATATAAAA TATATATAGTACATACTATATATAAAATATATATAGTACATACTATATAT AAAATATATAGTACATACTATATATAAAATATATAGTACATACTATATAT AAAATATATAGAGTACATACTATATATAAAATATATAGAGTACATAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(866): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG CATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATATA CTATATATATTTCATGTATAGTATATATACTGTATATACTATATATATTT TATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	182	0.0055	873	c.505 others(892): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATGAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTACATACTA TATATAAAATATATAGTACATACTATATATAAAATATATAGTACATACTA TATATAAAATATATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(866): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG CATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATATA CTATATATATTTTATGTATAGTATATATACTGTATATACTATATATATTT TATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	182	0.0055	873	c.505 others(892): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTACATACTA TATATAAAATATATAGTACATACTATATATAAAATATATAGTACATACTA TATATAAAATATATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(866): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG CATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTATATA CTATATATATTTTATGTATAGTATATATACTGTATATACTATATATATTT TATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	182	0.0055	873	c.505 others(892): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTACATACTA TATATAAAATATATAGTACATACTATATATAAAATATATAGTACATACTA TATATAAAATATATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
C22orf42_chr22_32144006_32164303	32145546	A A	ATATAATG others(866): Show ATATAATGATATATAATATATTATATTATATAATGATATATAATATATTA TATTATATAATGATATATGATATATTATATTATATAATGATATATGATAT ATTATATTATATAATGATATATGATATATTATATTATATAATGATATATG ATATATTATATTATATAATGATATATGATATATTATATTATATAATGATA TATGATATATTATATTATATAATGATATATGATATAATATATTATATAAT GATATATGATATAATATATTATATAATGATATATAATATAATATATTATA TAATATATAATATATTATATTATATAATGATATATAATATATTATATTAT ATAATGATATATAATATATTATATTATATAATGATATATAATATATTATA TTATATAATGATATATAATATATTATATTATATAATGATATATAATATAT TATATTATATAATGATATATAATATATTATATTATATAATGATATATAAT ATATTATATTATATAATGATATATAATATATTATATTATATAATGATATA TAATATATTATATTATATAATGATATATAATATATTATATTATATAATGA TATATAATATATTATATTATATAATGATATATAATATATTATATTATATA ATGATATATAATATATTATATTATATAATGATATATAATATATTATATTA TATAATGATATATAATATATTATATTATATAATGATATATAATATATTAT ATTATATAATGATATATAATATATAATGATATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATAATGATATATAATATAATTTAT TATATAATGATATATAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0122 a0005c0008t0002g0122	1	398	0.0025	873	c.39 others(884): Show c.3993_*3994insAATTATATTATATATCATTATATAATAAATTATA TTATATATCATTATATAATAAATTATATTATATATCATTATATAATATAA TAAATTATATATCATTATATATTATATATCATTATATAATATAATATATT ATATATCATTATATAATATAATATATTATATATCATTATATAATATAATA TATTATATATCATTATATAATATAATATATTATATATCATTATATAATAT AATATATTATATATCATTATATAATATAATATATTATATATCATTATATA ATATAATATATTATATATCATTATATAATATAATATATTATATATCATTA TATAATATAATATATTATATATCATTATATAATATAATATATTATATATC ATTATATAATATAATATATTATATATCATTATATAATATAATATATTATA TATCATTATATAATATAATATATTATATATCATTATATAATATAATATAT TATATATCATTATATAATATAATATATTATATATCATTATATAATATAAT ATATTATATATCATTATATAATATAATATATTATATATTATATAATATAT TATATTATATATCATTATATAATATATTATATCATATATCATTATATAAT ATATTATATCATATATCATTATATAATATAATATATCATATATCATTATA TAATATAATATATCATATATCATTATATAATATAATATATCATATATCAT TATATAATATAATATATCATATATCATTATATAATATAATATATCATATA TCATTATATAATATAATATATCATATATCATTATATAATATAATATATTA TATATCATTATATAATATAATATATTATATATCATTATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3459		chr22	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(866): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCATCCAACCCTCCCACTATGTCCTCTCCCACTACTCACCTTCCAACCC TCCCACTATTTCCCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCC TCCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCTCCCCCACTAC TCACCTTCCAACCCTCCCACTATTTCCTCCCCCCACTACTCACCTTCCAA CCTTCCCACTATTTCCCCCCTACTACTCACCTTCCAACCCTCCCACTATT TCCCCCCGACTACTCACCATCCAACCCTTCCACTATTTCCCCCCCACTAC TCACCATCCAACCCTCCCACTATGTCCTCTCCCACTACTCACCTTCCAAC CCTCCTATTCCCCCCACTACTACTCACCATCCAACCCTCCCAGTACTCAC CTTCCAACCCTCCCACTATCCCCCCCTACTACTCACCTTCCAACCCTTCC ACTATTTCCCCACTACTACTCACCTTCCAACCCTCCCACTATTTCCTCCC TCCAACTACTCACCTTCCAACCCTCCTACTATTCCCCCGCTACTACTCAC CTTCCAACCCTCCCACTATTCCCCCACTACTGCCCACCTTCCAACCCTCC CACTATTCCCCCGCTACTACCTACCTTCCAACCCTCCCACTATTTCCTCC CACCACTCACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	242	0.0041	873	c.266 others(890): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGGATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGAGGAA ATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAGGGT TGGAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGT AGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAA TAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGG TTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGTGG GGGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CDH4_chr20_61247261_61945617	61331574	A A	ACTACCTG others(866): Show ACTACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCTCAGATCTA CCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCT GCCCCAGACCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTG CCCCGGCCACCTGCCCTAGAGCCACCTCCTGCCCCGGCCACCTGCCCCAG ACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGC CACCTGCCCCAGACCCACCTCCTGACCAAGCCACCTGCCCCAGACCCACC TCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCAGACCCACCT CCTGCCTCAGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCC CCAGAGCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCTCCTGCCC CGGCCACCTGTCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCC CACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCAC CTGCCCCAGACCCACCTCCTGACCAAGCCACCTGCCCCAGACCCACCTCC TGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCAGACCCACCTCCT GCCTCAGCCACCTGCCCCAGACTCACCTCCTGCCCCGGCCACCTGCCCCA GAGCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCTCCTGCCCCGG CCACCTGTCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCAC CTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTG CCCCAGACCCACCTCCTGACCAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0102 a0002c0002t0023g0102	1	106	0.0094	873	c.169 others(892): Show c.169+76638_169+76639insTACCTGCCCCAGGCCCACCTCCTGCC CCGGCCACCTGCCTCAGATCTACCTCCTGCCCTGGCCACCTGCCCCAGAC CCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGACCCGACCA CCTCCCCCAGGCTCACCTCCTGCCCCGGCCACCTGCCCTAGAGCCACCTC CTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCC CAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGACCA AGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCC ACCTCCTGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAGACCCA CCTCCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCT ACCCCAGACCCACCTCCTGCCCCGGCCACCTGTCCCAGGCCCACCTCCTG CCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAG ACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGACCAAGC CACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACC TCCTGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCT CCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACC CCAGACCCACCTCCTGCCCCGGCCACCTGTCCCAGGCCCACCTCCTGCCC CGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGACC CACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGACCAAGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(866): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGATGGAAGGAGGGAGGGAGGGAGGACAGAGGGAGGGAGGGAGGGGAGGA CGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGG GAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAAGAA TGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAAGAATGGAGG AAGGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGA ATGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAGGGAAGAATGGAGGGAG GGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGGAGGGAGGGAGGGAAGA ATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGGAGGGAAGAATGGAA GAATGGAGGGAGGGAAGAATGGAGGGAGGGAAGAGTGGAAGAATGGAGAG AGGGAAGAGTGGAAGAATGGAGGGAGGGAAGAGTGGAAAAATGGAGGGAG CGAGTGAGGGAGGGAAGAATGGAAGAATGGAAGAATGGAGGGAGGGAAGA ATGCAAGACTGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAAT GGAAGAATGGGACGGAAGGAAGAGTGGAAGAATGGAGGAGGGAGGGAGGG AGGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0078 a0001c0019t0078	a0001c0019t0078g0105 a0001c0019t0078g0105	1	126	0.0079	873	c.415 others(894): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCCT CCCTCCCTCCCTCCTCCATTCTTCCACTCTTCCTTCCGTCCCATTCTTCC ATTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCAT TCTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCG CTCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCT CTCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTC TTCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCAT TCTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCC CTCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCAT TCTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCCTT CCTCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCA TTCTTCCCTCCCTCCCTCCATTCTTTCCTCCCTCCATCCTTCCATCCCTC CCTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCCTCCTTCCCTCCTTCCG TCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCTCCCTCCCTCCTTCCATCC TCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTC CCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCC CTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCT CCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(866): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACCACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG TCACCACCACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	396	0.0025	873	c.513 others(890): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACCACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTG CTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DPEP1_chr16_89608642_89643433	89619161	C C	CTGCTCCC others(866): Show CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCC CCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCTCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	250	0.0040	873	c.-10 others(892): Show c.-107+5442_-107+5443insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(866): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGATGCGGAGGGATGGATGGATGGATGGATGGATGGGTG GATGGATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGCGTGGA TGGATGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATG GATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGG TGGATGGATGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATG CAGAGGTGGGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGG TGGGTGGGTGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATG GATGGATGGATGCATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGA TGGACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATG AATGGGGAGGTGGATGGATGGATGGATGGATGAAGGATGGATGGGTGGGG AGGTGGGTGGACGGATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGG ACAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGAT GGGGAGGTGGATGGATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGG ATGGACAGAAGGATGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGAT GGGGAGATGGATGGATGGATAGAGAGAAGGATGGATGGGTGGGACAATGG ATGGATGGATGGATAGAAGGATGGACGGGTGGGGAGATGGATGGATGGAT GGATGGATGGATGGATGGACAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(39): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01516.hp1 HG01517.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02922.hp1 HG03209.hp1 HG03540.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp1 NA18944.hp2 NA18950.hp2 NA18973.hp1 NA18973.hp2 NA18990.hp1 NA19000.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0155 a0001c0002t0001g0014 a0001c0002t0001g0015 others(24): Show a0001c0001t0001g0155 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0028 a0001c0002t0001g0042 a0001c0002t0001g0052 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0149 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0008t0001g0045 a0001c0008t0001g0171 a0001c0008t0001g0181	42	374	0.1123	873	c.772 others(888): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTG TCCCACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCAT CCATCCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCC ATCCACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCAT CCATCCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCC ACCCATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCCAC CCATCCATCCTTCATCCATCCATCCATCCATCCACCTCCCCATTCATCCA TCCACCCACTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACC CATCCACCCACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCA TCCACCCACCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCC CACCCATCCATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCA TCCATCCATCCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATC CACCCACCCACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCA TCCATCCATCCATCCATCTATCCATCTATCCATCTCTCCATCCATCCACG CACCCACCCACCCACCTCCCCACCCATCCATCCTTCTATCCATCCACCCA TCCATCCATCCATCCATCCATCCCTCCGCATCCATCCATCCATCCATCTC CCTACCCATTCATCCTTCTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EML1_chr14_99788413_99947060	99928191	G G	GTGGTGAT others(866): Show GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGATGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0116 a0001c0003t0002g0116	1	288	0.0035	873	c.190 others(892): Show c.1909+7319_1909+7320insATGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTG ATGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALR1_chr18_77244848_77282900	77252899	C C	CCACCATC others(866): Show CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	366	0.0027	873	c.666 others(890): Show c.666+1690_666+1691insTCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCATCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
HPCAL1_chr2_10297904_10432604	10399223	C C	CCACCACC others(866): Show CCACCACCACCACCACCACCATCACCACCACCATCACCACCATCACCATC ATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCGCCGC CACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCA CCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCATC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCA CCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACC ATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCAC CACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCACCA TCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCACC ACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCAT CACCGCCACCACCACCATCACCACCACTACCACCACCACCACCACCATCA CCACCACAACCACCACCACCACCACCATCACCACCACTACCACCACCACC ACCACCATCACCACCACCACTACCATCATCACCACCACCACCACCACCAC CACCATCACCATCACCACCACCACCACCATCACCATCACCACCACCACCA CCATCACCATCATCACCACCATCACCGCCACCATCACCATCACCACCACC ACCACCACCACCACCACCATCACCACCACCACTACCATCATCACCACCAC CACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0244 a0001c0001t0001g0245	2	314	0.0064	873	c.-25 others(890): Show c.-25+2320_-25+2321insCCATCACCACCACCATCACCACCATCAC CATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCG CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CATCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATC ACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCAC CACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCA TCATCACCGCCACCACCACCATCACCACCACTACCACCACCACCACCACC ATCACCACCACAACCACCACCACCACCACCATCACCACCACTACCACCAC CACCACCACCATCACCACCACCACTACCATCATCACCACCACCACCACCA CCACCACCATCACCATCACCACCACCACCACCATCACCATCACCACCACC ACCACCATCACCATCATCACCACCATCACCGCCACCATCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACTACCATCATCACCA CCACCACCACCACCACCACCATCACCATCACCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
KDM2B_chr12_121424096_121586023	121514828	C C	CTCCCCAC others(866): Show CTCCCCACACGCCAATCACACTCTCCAATCCCCATCACACTCCCCACCCG CCAATCACACTCTCCAATCCCCATCACACTCCCCACCCCCTCTAATCACA TTCCCCATCCCTCTAATCACACACCCCATCCCCTCTAATCACACTCCCCA CCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATCA CACTACCCACCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCA CCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCAATCA CACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCA CCCCCCAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAATC ACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTCTAATCACACTC CCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCCA ATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACACT CCCCACCCCCTCTAATCACACTCCCCACCCCAATCACACTCCCCACCCCC AATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACAC TCCCCACCCCCTAATCACACTCCCCACCCCAATCACACTCCCCATCCCCT CTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCCAATCACACT CCCCACCCCCTCTAATCACACTCCCCACCCCCTCTAATCACACTCCCCAC CCCCTCTAATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCCAAT CACACTCCCCACCCCCCAATCACA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	270	0.0037	873	c.104 others(892): Show c.1048-1427_1048-1426insTGTGATTGGGGGGTGGGGAGTGTGAT TGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTAGAGGGGGT GGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAG TGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAG GGGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGT GTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGG GGGTGGGGAGTGTGATTGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAG TGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTG GGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGA GTGTGATTAGAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGA TTGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGGTG GGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTG ATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTG GGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGTAGTGTG ATTGGGGGGTGGGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTG GGGAGTGTGATTAGAGGGGATGGGGTGTGTGATTAGAGGGATGGGGAATG TGATTAGAGGGGGTGGGGAGTGTGATGGGGATTGGAGAGTGTGATTGGCG GGTGGGGAGTGTGATGGGGATTGGAGAGTGTGATTGGCGTGTGGGGA	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
MAD1L1_chr7_1810795_2237945	1930159	C C	CCCCACTG others(866): Show CCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGC CCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCC TCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGT CCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGC CACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCC ACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCGT CCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCC CCATCCCCCACTGCCACGTCCCCCTCGCCCCGTCCCCGCTGCCACGTCCC CTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCAC AACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCGCTG CCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCC GCTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCCG TCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGC CCCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCC CTCGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACG TCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACCG CCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCC CACTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	264	0.0038	873	c.180 others(892): Show c.1807+6527_1807+6528insACGGGGCGAGGGGACGTGGCAGTGGG GGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCG GTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACG TGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAGGG GACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGCGG GGACGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCA GCGGGGACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGTTGT GGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGG GACGTGGCAGCGGGGACGGGGCGAGGGGGACGTGGCAGTGGGGGATGGGG CGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGAC GGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGG GGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGC AGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGAC GTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(866): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAG GGGGGGATGGGCAGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGG GATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGC GATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGGATG GGCAGGGACAGTGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	324	0.0031	873	c.141 others(890): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCACTGTCCCTGCCCATC CCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACCGTCCCTGCCCATCCCCCCCTCACCGTCCTGCCCATCCCCCCCTCA CCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTGT CCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCC CCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCC CCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCC CGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(866): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGCGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAG GGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACTGGGGGGTGGGCAGGG ACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01346.hp1 NA20129.hp2 HG00099.hp1 HG01346.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0009g0272 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0009g0272	3	324	0.0093	873	c.141 others(890): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCACCCCCCAGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCT CACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCA CCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTGT CCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCC CCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCC CCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCC CGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(866): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGCGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAG GGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGC GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0317 a0001c0004t0003g0317	1	324	0.0031	873	c.141 others(890): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCT CACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCA CCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTGT CCCTGCCCATCGCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCC CCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCC CCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCC CGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(866): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGCGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAG GGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGC GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp1 HG06807.hp1 HG01243.hp2 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0012 a0001c0005t0008 a0001c0001t0012 a0001c0005t0008	a0001c0001t0012g0001 a0001c0005t0008g0023 a0001c0001t0012g0001 a0001c0005t0008g0023	3	324	0.0093	873	c.141 others(890): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCT CACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCA CCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTGT CCCTGCCCATCGCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCC CCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCC CCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCC CGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(866): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACGGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGAC AGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAAGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGCGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAG GGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGG GGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAG GGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGC GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	324	0.0031	873	c.141 others(890): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCT CACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCA CCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTGT CCCTGCCCATCGCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCC CCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACT GTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCTGC CCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCC CACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCCCCCTCACTGTCCCTGCCCATCCCCCTCACCGTCCCTGCCCATCCCC CCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCC CGCACCGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(866): Show CACACCACACACATACACACTCCACACACACCACACATATATCACACACA CCACATACACACTCCACACACACCACACATACATCACACACACCATACAC CACACACACACCACACACTACACACCACACCCACCCACGCATACCACACA TATCCCCTTACATACCACACACATCCCCTACACACACGCCACATACACAC ACCATACACATCCCCCACAGACACACATACCCCTACATACCACACACATC CCCTACACACATGCCATACACACACCATACACATCCCCCACAGACACACA TACACACCACACACATACACAAACACTGCACACATACACACCCCACACAT ACAACACACACGACACACCACACACATACACAAACACTGCACACATACAC ACCCCACACATACAACACACACGACACACCACACACATACACAAACACTG CACACATACACACCCCACACATACAACACACACGACACACCACACAACCA TACAGACACAAACACATACACCACACACACCACATACACAACAAACATGC CACACACAAATACCACACACACCACATACACACACCCCCCATTCACCACA CACCACATACACACCATTCACACTACACATACACTCCACACACACACCAC ATACACACCATACACACCACACATATCTCCACACACACACCACATACATA CACATCCCATCCACACACACCACACACCCACACACACACACACTCCAAAC TCCACACACATACTCCAAACACCACACAAATACACCTACACACACATCAC ACACCCACACCACACCCACACCACACAAACATGCCACACACATACCCCAC ACCATACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	316	0.0032	873	c.201 others(890): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGGGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTATGTGTGTGGAGTTT GGAGTGTGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATG TATGTGGTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGG TGTGTGTGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTG GTGAATGGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCAT GTTTGTTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGT TGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGT GTTTGTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGT ATGTGTGCAGTGTTTGTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGT GTGGGGTGTGTATGTGTGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTG TGTCTGTGGGGGATGTGTATGGTGTGTGTATGGCATGTGTGTAGGGGATG TGTGTGGTATGTAGGGGTATGTGTGTCTGTGGGGGATGTGTATGGTGTGT GTATGTGGCGTGTGTGTAGGGGATGTGTGTGGTATGTAAGGGGATATGTG TGGTATGCGTGGGTGGGTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGT ATGGTGTGTGTGATGTATGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTG TGTGATATATGTGTGGTGTGTGTGGAGTGTGTATGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
OSTF1_chr9_75083514_75152265	75139041	T T	TTCTTTTC others(866): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0269 a0001c0001t0005g0269	1	366	0.0027	873	c.487 others(890): Show c.487+1425_487+1426insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9			chr9	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(866): Show TCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTCCCTTCCTTCCCTT CCCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTCCCTTCCTTCCCTTC CCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTT CCCTTCCTTCCCTACCCTCCCTTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	178	0.0056	873	c.773 others(888): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTCCCTTC CTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTA CCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCT TCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCC TTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKCZ_chr1_2045411_2190395	2124353	C C	CTGTAGTT others(866): Show CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGT GGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTA GGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA TGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCGT CATGGTGGTAGTTAGGGTCATGGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0212 a0001c0003t0003g0212	1	286	0.0035	873	c.335 others(892): Show c.335-10909_335-10908insTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGAT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGT GGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAG TTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGG TCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(866): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATG GACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGT GGCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCC TGACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCT GGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGC ACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAA AAAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCA ATAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA19091.hp2 HG02735.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0038 a0001c0002t0002g0083 a0001c0001t0002g0038 a0001c0002t0002g0083	2	338	0.0059	873	c.-26 others(892): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGTAAAGGACATATCATATTTATTCATACACATGCTGGAATTATTG GTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTT TTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGC AATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAG CTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGG CTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCAC AGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCA TTCTTTTTTTTTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAA TTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATA GTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTC CTAGGCAGAGGACCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACT TGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCA TCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGA GTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACA GATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAAT GAAAAGTCTCCCATGTCTACTTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(866): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAGAATGG ACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGTG GCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCT GACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCTG GGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGCA CCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAAA AAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCAA TAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02602.hp1 HG02976.hp2 others(3): Show HG02015.hp2 HG02602.hp1 HG02976.hp2 NA18747.hp1 NA18960.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0030	a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0073 others(3): Show a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0073 a0001c0001t0006g0126 a0001c0001t0007g0015 a0001c0001t0030g0112	6	338	0.0178	873	c.-26 others(892): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGTAAAGGACATATCATATTTATTCATACACATGCTGGAATTATT GGTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTT TTTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTG CAATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCA GCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAG GCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCA CAGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCC ATTCTTTTTTTTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAA TTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATA GTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTC CTAGGCAGAGGACCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACT TGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCA TCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGA GTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACA GATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAAT GAAAAGTCTCCCATGTCTACTTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(866): Show GTATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATATTCCATATATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATTCCATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	324	0.0031	873	c.115 others(890): Show c.115-2552_115-2551insTATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATATGGAATATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77484808	G G	GTGATTGT others(866): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGAT GGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGA TTGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGT GGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGG CGATTGTGGTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp1 HG00423.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0091 a0001c0001t0003g0062 a0001c0001t0003g0091	2	150	0.0133	873	c.913 others(890): Show c.913+2475_913+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGG TGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTG GTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTA GTGGTGGTGATGGTGATGATTGTGATTGTGGTGAAGGGGGTGATGGTGGT GATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGG TGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTG GTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484808	G G	GTGATTGT others(866): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGAT GGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGA TTGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGT GGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGG CGATTGTGGTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	158	0.0063	873	c.859 others(890): Show c.859+2475_859+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGG TGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTG GTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTA GTGGTGGTGATGGTGATGATTGTGATTGTGGTGAAGGGGGTGATGGTGGT GATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGG TGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTG GTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(866): Show TAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGTTAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG AGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGG GTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGG AGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGAGAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0096 a0001c0003t0002g0096	1	376	0.0027	873	c.101 others(892): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGAGAGGGTGGAGAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGTTAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGG AGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA GAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGG TGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432048	C C	CAGGGTGG others(866): Show CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGAGA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGTTAGAGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGTTAGAGTGGAGAGGGTGGACAGGGTGGACAGGGTGGA TAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGAGT GGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGTTAGAGTGGAGAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	376	0.0027	873	c.101 others(890): Show c.1014-911_1014-910insTAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GTTAGAGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGTTAGAGTGGAGAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGAGAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGTTAGAGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGG AGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGAGTGGAGAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432120	T T	TAGGGTGG others(866): Show TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGAGAGGGT GGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGAGAGAGTGGACAGGGTG GAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAG GGTGGAGAGAGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGG GTGGATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	1	376	0.0027	873	c.101 others(890): Show c.1014-830_1014-829insTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGAGA GGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGTTAGAGTGGAGAGAGTGGACAG GGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAG AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGG ACAGGGTGGAGAGAGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76438015	T T	TGAAAATT others(866): Show TGAAAATTAACGTCAATTCCATTGATCTATATCTCTGTTTTGGTACCAGT ACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGT AGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAAT GCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATT CTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAA ATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCA TGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGA GCAGTGGTTTGTAGTTCTCCTTGAATCATGCTGCTATAAAGACACATGCA CACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAA CCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATA CACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTG TAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAA GAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAAC AATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGT GGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATG CTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACA TATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTAT AATAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0063 a0001c0001t0010g0063	1	102	0.0098	873	c.623 others(892): Show c.623+25613_623+25614insTTCCATTGATCTATATCTCTGTTTTG GTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGA AGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGAC TTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTT TTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGA ATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTT CCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTAT TTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAATCATGCTGCTATAAAGA CACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTT GGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGG CACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCAT ATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAAC TATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGG AATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTG GGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATAT ACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACA TGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACT TAGAGTATAATAAAAAAAAAAAAAAAAAAAAAGAAAATTAACGTCAA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGGTTA others(866): Show GGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGA CCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGA TTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGAGAGGCCAGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGAT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAG GGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTA GGGAGGCTGGGGGTTAGGAAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	466	0.0022	873	c.50 others(884): Show c.5048_*5049insGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCC TCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCT TGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCC TCCCTGACCCTTGGTCTCCCTAACCCTGGCCTCTCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCT CCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTG GCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930741	C C	CGGGGTTA others(866): Show CGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGG GATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGCCGGGTTAGGGAGGCCGGGGTAGGGGCCGGGGGTTAGGGAGGCG GGGGTTAGGGAGGCGGGGTTAGGGAGGCCTGGGTTAGGGAGGCCGGGGTT AGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGA GGCTGGGGGTTAGGAAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGC CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	466	0.0022	873	c.48 others(884): Show c.4849_*4850insTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTGA CCCTTGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCCT GGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCC CTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTAACCCCGGCC TCCCTAACCCAGGCCTCCCTAACCCCGCCTCCCTAACCCCCGCCTCCCTA ACCCCCGGCCCCTACCCCGGCCTCCCTAACCCGGCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCTGGCCTCCCTAACCCCGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCC CTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4628		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870319	C C	CACACACC others(866): Show CACACACCCCACACACACACATCACATACCACACACACATCACATACCAC ACACACCCCACACACACATCACATACCACACACAAACCACACACCACACA CACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACCCCATACACACCACACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACCCCATACA CACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACACCGCACACACACCACACCCCATACA CACCACACACCCCACACACACCACACACCCCACACACACCACACACCCCA CACACACCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACACACCACACCCCACACACACCACACCCCA CACACCCCACACACACCACACACCCCACACACACCACACACACCACACAC CCCACACACACCACACACACCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACACCACACCCCACACAC ACCACACACACCACAGCCCACACACACCACACACACCACACCCCACACAC ACCACACACACCACACCCCACACA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	338	0.0030	873	c.35 others(892): Show c.35+21586_*35+21587insACACACCCCACACACACACATCACAT ACCACACACACATCACATACCACACACACCCCACACACACATCACATACC ACACACAAACCACACACCACACACACACCACACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACACC GCACACACACCACACCCCATACACACCACACACCCCACACACACCACACA CCCCACACACACCACACACCCCACACACACCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACACACCA CACCCCACACACACCACACCCCACACACCCCACACACACCACACACCCCA CACACACCACACACACCACACACCCCACACACACCACACACACCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACACACCACACCCCACACACACCACACACACCACAGCCCACACACAC CACACACACCACACCCCACACACACCACACACACCACACCCCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ZNF16_chr8_144925358_144955880	144946552	G G	GGGGCCTG others(866): Show GGGGCCTGTGTCCTGCTGTGGGGCCTGTACCCTGCTGTGGGCCTGTACCC TGCTGTGGGCCTGTACCCTGCTGTGGGGCTGTGTCCTGCTGTGGGGCCTG TACCCTGCTGTGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGG CCTGTGTCCTGCTGTGGGGCCTGTACCCTGCTGTGGGCCTGTACCCTGCT GTGGGCCTGTACCCTGCTGTGGGCCTGTACCCTGCTGTGGGGCTGTGTCC TGCTGTGGGGCCTGTACCCTGCTGTGGGCCTGTGTCCTGCTGTGGGCCTG TGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCCTGTACCCTGCTGTGG GCCTGTGTCCTGCTGTGGGGCCTGTACCCTGCTGTGGGCCTGTGTCCTGC TGTGGGGCCTGTACCCTGCTGTGGGCCTGTGTCCTGCTGTGGGCCTGTGT CCTGCTGTGGGCCTGTACCGTGCTGTGGGTCTGTATCCTGCTGTTGGGCC TGTGTCCTGCTGTTGGGCCTGTGTCCTACTGTGGGCCTGTACCCTGCTGT GGGCCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTGGGCCTGTACCCTG CTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTGGGCCTGTAC CCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTGGGCCT GTACCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTGG GCCTGTACCCTGCTGTGGGCCTGTACCCTGCTGTGGGCCTGTGTCCTGCT GTGGGGCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCCCGTACC CTGCTGTGGGCCATACCCTTCTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0105 a0001c0005t0001g0105	1	404	0.0025	873	c.-9- others(886): Show c.-9-338_-9-337insACAGAAGGGTATGGCCCACAGCAGGGTACGGG CCCCACAGCAGGACACAGGCCCACAGCAGGACACAGCCCCACAGCAGGAC ACAGGCCCACAGCAGGGTACAGGCCCACAGCAGGGTACAGGCCCACAGCA GGACACAGCCCCACAGCAGGACACAGGCCCACAGCAGGGTACAGGCCCAC AGCAGGACACAGCCCCACAGCAGGACACAGGCCCACAGCAGGGTACAGGC CCACAGCAGGACACAGCCCCACAGCAGGACACAGGCCCACAGCAGGGTAC AGGCCCACAGCAGGACACAGCCCCACAGCAGGACACAGGCCCACAGCAGG GTACAGGCCCACAGTAGGACACAGGCCCAACAGCAGGACACAGGCCCAAC AGCAGGATACAGACCCACAGCACGGTACAGGCCCACAGCAGGACACAGGC CCACAGCAGGACACAGGCCCACAGCAGGGTACAGGCCCCACAGCAGGACA CAGGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCCACAGCA GGGTACAGGCCCCACAGCAGGACACAGGCCCACAGCAGGACACAGGCCCA CAGCAGGACACAGGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAG CCCCACAGCAGGGTACAGGCCCACAGCAGGGTACAGGCCCACAGCAGGGT ACAGGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCCACAGC AGGACACAGGCCCACAGCAGGACACAGGCCCACAGCAGGGTACAGGCCCC ACAGCAGGACACAGCCCCACAGCAGGGTACAGGCCCACAGCAGGGTACAG GCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCC	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(866): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC AAGTATATATATATACTTGTGTATATATACATGTATATATATACAAGTAT ATATACATGTATATATATACAAGTATATATATATACTTGTATATATATAT ACAAGTATATATATATACTTGTATACATATATACTATATATATACGTATA TACACGTATATACGTATATATATGTATATATACGTATATACATGTATATA TACGTATATACATGTATATACGTATATATACACATATATACATGTATATA TACGTATATATACACATATATACATGTATATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TATACGTATATATACACATATATACATGTATATATACATGTATATATACA CATATATACATGCGTATATATATACGTATATATACATGTATATATATACG TATATATACACATATATACATGTATATATACGTATATATACACATATATA CATGTATATATATACGTATATATACACATATATACATGTATATATACACG TATATATACACATATATACATGTATATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATACA CGTATATATACACATATATACATGCGTATATATATACGTATGTATATATG TATATATACGTATATACATGTATATATATATACGTATATATACATATATA CGTATATATATATACGTATATATACATATATATACATGTATATATATGTG TGTATATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0261 a0002c0002t0003g0261	1	383	0.0026	873	c.-42 others(884): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACAAGTATATATATATACTTGTGTATATATACATGTA TATATATACAAGTATATATACATGTATATATATACAAGTATATATATATA CTTGTATATATATATACAAGTATATATATATACTTGTATACATATATACT ATATATATACGTATATACACGTATATACGTATATATATGTATATATACGT ATATACATGTATATATACGTATATACATGTATATACGTATATATACACAT ATATACATGTATATATACGTATATATACACATATATACATGTATATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATATACGTATATATACACATATATACATGTATATAT ACATGTATATATACACATATATACATGCGTATATATATACGTATATATAC ATGTATATATATACGTATATATACACATATATACATGTATATATACGTAT ATATACACATATATACATGTATATATATACGTATATATACACATATATAC ATGTATATATACACGTATATATACACATATATACATGTATATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATACACGTATATATACACATATATACATGCGTATATATAT ACGTATGTATATATGTATATATACGTATATACATGTATATATATATACGT ATATATACATATATACGTATATATATATACGTATATATACATATATATAC ATGTATATATATGTGTGTATATATATACGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(866): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC AAGTATATATATATACTTGTGTATATATACATGTATATATATACAAGTAT ATATACATGTATATATATACAAGTATATATATATACTTGTATATATATAT ACAAGTATATATATATACTTGTATACATATATACTATATATATACGTATA TACACGTATATACGTATATATATGTATATATACGTATATACATGTATATA TACGTATATACATGTATATACGTATATATACACATATATACATGTATATA TACGTATATATACACATATATACATGTATATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TATACGTATATATACACATATATACATGTATATATACATGTATATATACA CATATATACATGCGTATATATATACGTATATATACATGTATATATATACG TATATATACACATATATACATGTATATATACGTATATATACACATATATA CATGTATATATATACGTATATATACACATATATACATGTATATATATACG TATATATACACATATATACATGTATATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATACA TGTATATATACACATATATACATGCGTATATATATACGTATGTATATATG TATATATACGTATATACATGTATATATATATACGTATATATACATATATA CGTATATATATATACGTATATATACATATATATACATGTATATATATGTG TGTATATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0263 a0002c0002t0003g0263	1	383	0.0026	873	c.-42 others(884): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACAAGTATATATATATACTTGTGTATATATACATGTA TATATATACAAGTATATATACATGTATATATATACAAGTATATATATATA CTTGTATATATATATACAAGTATATATATATACTTGTATACATATATACT ATATATATACGTATATACACGTATATACGTATATATATGTATATATACGT ATATACATGTATATATACGTATATACATGTATATACGTATATATACACAT ATATACATGTATATATACGTATATATACACATATATACATGTATATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATATACGTATATATACACATATATACATGTATATAT ACATGTATATATACACATATATACATGCGTATATATATACGTATATATAC ATGTATATATATACGTATATATACACATATATACATGTATATATACGTAT ATATACACATATATACATGTATATATATACGTATATATACACATATATAC ATGTATATATATACGTATATATACACATATATACATGTATATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATACATGTATATATACACATATATACATGCGTATATATAT ACGTATGTATATATGTATATATACGTATATACATGTATATATATATACGT ATATATACATATATACGTATATATATATACGTATATATACATATATATAC ATGTATATATATGTGTGTATATATATACGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(867): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACGTATACGTATACACACATATACGTATA CGTATACACACATATACACGTATACGTATACGTATACACACATATACACG TATACGTATACGTATACACACATATACACGTATATACGTATACGTGTACA CACATATACACGTATATACGTATACGTGTACACACATATATACACGTATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACA CGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACATACACGTATACGTGTACACACACATACACGTATACG TGTACACACACATACGTATACGTGTACACACACATACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATACACGTATATACG TATACGTGTACACACATATACACGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0107 a0001c0002t0019g0107	1	169	0.0059	874	c.48- others(891): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACGTATACGTATACACACATAT ACGTATACGTATACACACATATACACGTATACGTATACGTATACACACAT ATACACGTATACGTATACGTATACACACATATACACGTATATACGTATAC GTGTACACACATATACACGTATATACGTATACGTGTACACACATATATAC ACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTAC ACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATAC GTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATAT ACGTATACGTGTACACACACATACACGTATACGTGTACACACACATACAC GTATACGTGTACACACACATACGTATACGTGTACACACACATACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATATACGTATACGTGTACACACATATACACGT ATATACGTATACGTGTACACACATATACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AMER2_chr13_25156679_25177288	25159113	T T	TACATGTA others(867): Show TACATGTATATATTATATATTATATGTTTATATATTATATGTATATATGT ATATATTATATATTATATATTATATATATTATATACATATAATATATATT CTCATATATATTATATATACTCATATATATAATATATATTCTCATATATA TATTATATATTCTCATATATATAATATATATATTCTCATATATAATATAT ATTCTCATATATATAATATATACTCATATATTATATATATTCTCATATAT TATATATATACTCATATATAATGTATATATTCTAATATATAATATATATT TTCTCATTTATATAATATATATTCTCATATATAATATATATTCTCATATA TGACATATTATATATATTCTCATATATATTATATATTCTCATATATATTA TATATTCTCATATATAATATATATTCTCATATAATATATTATATATTCTC ATATAATATATTATATATTCTCATATAATATATTATAAATTCTCATATAA TATATTATATATTCTCATATATAATATATTATATATTCTCATATATAATA TATTATATATGCTCATATATAATATATTATATATGCTCATATATAATATA TTATATATGCTCATATATAATATATTATATATGCTCATATATAATATATT ATATATGCTCATATATAATATATTATATATGCTCATATATAATATATTAT ATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATAT ATGCTCATATATAATATATTATGTATGCTCATATATAATATATTATGTAT GCTCATATATAATATATTATGTATGAGCATATATAATATATTATGTATGA GCATATATAATATATTATGTATGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG04184.hp2 NA20752.hp2 others(1): Show HG03831.hp2 HG04184.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0000 a0001c0001t0027g0000 a0001c0001t0001g0000 a0001c0001t0027g0000	4	416	0.0096	874	c.10 others(887): Show c.10490_*10491insCTCATACATAATATATTATATATGCTCATACA TAATATATTATATATGCTCATACATAATATATTATATATGAGCATACATA ATATATTATATATGAGCATACATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATAT ATTATATATGAGCATATATAATATATTATATATGAGCATATATAATATAT TATATATGAGCATATATAATATATTATATATGAGCATATATAATATATTA TATATGAGCATATATAATATATTATATATGAGCATATATAATATATTATA TATGAGAATATATAATATATTATATATGAGAATATATAATATATTATATG AGAATTTATAATATATTATATGAGAATATATAATATATTATATGAGAATA TATAATATATTATATGAGAATATATATTATATATGAGAATATATAATATA TATGAGAATATATAATATATATGAGAATATATATAATATGTCATATATGA GAATATATATTATATATGAGAATATATATTATATAAATGAGAAAATATAT ATTATATATTAGAATATATACATTATATATGAGTATATATATAATATATG AGAATATATATAATATATGAGTATATATTATATATATGAGAATATATATT ATATATGAGAATATATATATTATATATATGAGAATATATAATATATATAT GAGAATATATATTATATATATGAGTATATATAATATATATGAGAATATAT ATTATATGTATATAATATATATAATATATAATATATAATATATACATATA TACATATAATATATAAACATATAATATATAATATATACATGT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2565		chr13	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(867): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCC CTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGC CCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCC CTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCT CCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCC TCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCC CTCCCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	210	0.0048	874	c.273 others(891): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCC CCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACC TTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGC CCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACC CCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCC TGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCC TCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTC CTGCCCCCCTCCCCTCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(867): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATATATATATATATATATATATATATATATATATATA TATATATATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGG TCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	336	0.0030	874	c.94+ others(889): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATATATATATATATATATGTATTTTTTTTTTTTTTT TAAATATATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCT GGAGTGCAGTGGCACCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTT CAAGCAATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAG GCACACGCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGA CGGGGTTTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGG AAGTCTGCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCC ACCGTGCCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATCATTAT GGGAAAGAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATAGCTA AGTATTGTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCCACTA TTCACTGTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGA GACAGTGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCG GTTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTT TTTTTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
C1orf174_chr1_3884133_3905272	3892349	C C	CGGGTGCT others(867): Show CGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGAGGG TGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGAGGGTGCT AGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGAGGGTGCTAGGA TCAGGGCCCGGGTCTAGACACACACACGGGTGGGAGGGTGCTAGGATCAG GGCCCGGGTCTAGACACACACACGGGTGGGAGGGTGCTAGGATCAGGGCC CGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGG TCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGGTCTA GACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGGTCTAGACA CACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACA CACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACG GGTGGGCGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTG GGCGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCG GGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGAGGGTG CTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAG GATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATC AGGGCCCGGGTCTAGACACACACACGGGTGGGAGGGTGCTAGGATCAGGG CCCGGGTCTAGACACACACACGGGTGGGAGGGTGCTAGGATCAGGGCCCG GGTCTAGACACACACACGGGTGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0052 a0001c0001t0016g0052	1	440	0.0023	874	c.129 others(889): Show c.129+533_129+534insTCCCACCCGTGTGTGTGTCTAGACCCGGGC CCTGATCCTAGCACCCTCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTG ATCCTAGCACCCTCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCC TAGCACCCGCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCCTAGC ACCCGCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCCTAGCACCC TCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCCTAGCACCCGCCC ACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCCTAGCACCCGCCCACCC GTGTGTGTGTCTAGACCCGGGCCCTGATCCTAGCACCCGCCCACCCGTGT GTGTGTCTAGACCCGGGCCCTGATCCTAGCACCCGCCCACCCGTGTGTGT GTCTAGACCCGGGCCCTGATCCTAGCACCCGCCCACCCGTGTGTGTGTCT AGACCCGGGCCCTGATCCTAGCACCCGCCCACCCGTGTGTGTGTCTAGAC CCGGGCCCTGATCCTAGCACCCGCCCACCCGTGTGTGTGTCTAGACCCGG GCCCTGATCCTAGCACCCGCCCACCCGTGTGTGTGTCTAGACCCGGGCCC TGATCCTAGCACCCTCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTGAT CCTAGCACCCTCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCCTA GCACCCTCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCCTAGCAC CCTCCCACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCCTAGCACCCTC CCACCCGTGTGTGTGTCTAGACCCGGGCCCTGATCCTAGCACCC	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3			chr1	TogoVar

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