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
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(797): Show AATATATAATATATATAATATATATAATATAATATAATGCAATATATAAT AATTATATAATATAATATATAATATATAATATATATTATATATTATATAT AATATATATTATATATTATATATAATAATATAATATATAATATACATTAT ATAATAATATAATATATAATATACATTATATAATAATATAATGTATATTA TATAATAATAATGTAATATATAACATATATTATATAATAATAATATAATA TATATTATATAATTAATATAATATATAATATATTTTATATAATAATAATA TAATATATATTATATAATTAATATAATATATAATATATATTATATAATAA TAATATAATATATATAATAATTATATAATATAGTATATAATATATATTAT ATAATAATAATATAATATATATAATAATTATATAATATTAGAATATATAT TATACAATAATAATATAATATATATATAATTATATAATATAATATATATA ATAATAATATAATATAATATATAATATATATTATATAGTAATAATATAAT ATAATATATAATATATATTATATAGTAATAATATAATATAATATATAATA TATATTATATGATAATATAATATAATATATATTATATATTATATTATAAT ATAATATAATATATATTATATATTATATAATAATATAATATAATATATAA TATATATTATATAATAATATAATATAATATATAATATATATTATATAATA ATATAATATAATATATAATATATATTATATAATAATATAATATAATATAT AATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0063 a0007c0007t0001g0063	1	218	0.0046	804	c.55+ others(819): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTATATA ATATATATTATATATTATATTATATTATTATATAATATATATTATATATT ATATTATATTATTATATAATATATATTATATATTATATTATATTATTATA TAATATATAATATATATTATATTATATTATAATATAATATATAATATATA TTATATTATATTATCATATAATATATATTATATATTATATTATATTATTA CTATATAATATATATTATATATTATATTATATTATTACTATATAATATAT ATTATATATTATATTATATTATTATTATATATATTATATTATATAATTAT ATATATATTATATTATTATTGTATAATATATATTCTAATATTATATAATT ATTATATATATTATATTATTATTATATAATATATATTATATACTATATTA TATAATTATTATATATATTATATTATTATTATATAATATATATTATATAT TATATTAATTATATAATATATATTATATTATTATTATATAAAATATATTA TATATTATATTAATTATATAATATATATTATATTATTATTATATAATATA TGTTATATATTACATTATTATTATATAATATACATTATATTATTATATAA TGTATATTATATATTATATTATTATATAATGTATATTATATATTATATTA TTATATATAATATATAATATATATTATATATAATATATAATATATATTAT ATATTATATATTATATTATATAATTATTATATATTGCATTATATTATATT ATATATATTATATATATTATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(797): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCC CTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	326	0.0031	804	c.483 others(819): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCT TCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
YBEY_chr21_46281342_46302751	46294192	A A	AACTCTAG others(797): Show AACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGA GTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	404	0.0025	804	c.340 others(821): Show c.340-1960_340-1959insCCTCCCGTGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCG GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294304	G G	GTGCCCGG others(797): Show GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	404	0.0025	804	c.340 others(821): Show c.340-1841_340-1840insGGACAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACA AGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCC GGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB34_chr9_126855639_126890878	126876163	C C	CTTCCCCC others(797): Show CTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCT TCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTT CCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCC CCCCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0127 a0001c0001t0007g0127	1	246	0.0041	804	c.-10 others(821): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTC CCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCT TCCCCCCTTTCCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABCA7_chr19_1035107_1070572	1049952	T T	TCCCCCAC others(798): Show TCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAG TCCCCCACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGA GCCCCCCCGGACCACTCCCTCCCTGTGAGCCGCCCAAACCACTCCCTCCC TGTGAGTCCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCC CTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCC TCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCC CTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCAC TCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGTCCCCCGACCA CTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCA CCACTCCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCC ACCACTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCC CCCACCACTCCCTCCCTGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCC GCCCAAACCACTCCCTCCCTGTGAGCCCCCCACCACTTCCTCCCTGTGAG TCCCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAG TCCCCCACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGA GCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTG TGAGGC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0002 a0016c0014t0002	a0016c0014t0002g0025 a0016c0014t0002g0025	1	30	0.0333	805	c.255 others(822): Show c.2552+541_2552+542insCCCCACCACTCCCTCCCTGTGAGTCCCC CACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCC CCCGGACCACTCCCTCCCTGTGAGCCGCCCAAACCACTCCCTCCCTGTGA GTCCCCCACCACTCCCTCCCCGTGAGTCCCCCGACCACTCCCTCCCTTTG AGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCT GTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCC TTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCT CCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCC TCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACT CCCTCCCTGTGAGTCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCAC TCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGCCCCCCAC CACTCCCTCCCTGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCGCCCA AACCACTCCCTCCCTGTGAGCCCCCCACCACTTCCTCCCTGTGAGTCCCC CACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCC CACCACTCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCC CCCGGACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGG CCCCCCACCACTCCCTCCCTGTGAGCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB5_chr7_20610667_20762008	20668834	G G	GTCCGGGA others(798): Show GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCATCCGGGAGGGGGGTGGGGGGGGGGTCAGCCCCCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0038 a0038	a0038c0049 a0038c0049	a0038c0049t0004 a0038c0049t0004	a0038c0049t0004g0348 a0038c0049t0004g0348	1	360	0.0028	805	c.170 others(826): Show c.1707+10193_1707+10194insGGCCAGCCGCCCAGTCCGGGAGGG AGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCC GGGAGGGGGGTGGGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC GGGAGGGGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCC CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGMO_chr7_15195317_15567015	15529963	G G	GATATTCT others(798): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACG TATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATATTC TATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATAT AGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCC ATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTAT TTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATAC GTATTTCCATATAGATATTCTATATACGTATTTCCATATATTCTATATAC GTATTTCCATATATTCTATATACGTATTTCCATATATTCTATATACGTAT TTCCAT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	236	0.0042	805	c.409 others(824): Show c.409+14808_409+14809insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTAT ATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATAC GTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAA ATACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATAC GTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACGTAT ATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATAC GTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAA ATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATAT GGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCT ATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAAT ATCTATATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCC others(798): Show AGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	391	0.0026	805	c.36 others(816): Show c.3611_*3612insGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(798): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	338	0.0030	805	c.300 others(822): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(798): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGT ACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGTCGGCGTGCGTAGCGGCCGGAGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0036 a0036	a0036c0103 a0036c0103	a0036c0103t0001 a0036c0103t0001	a0036c0103t0001g0139 a0036c0103t0001g0139	1	338	0.0030	805	c.300 others(822): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTGT GTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGTCGGCGTGCGTAGCGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(798): Show ATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTG CGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGG CATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGT CGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGG CGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG CATGTG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0293 a0001c0001t0014g0293	1	338	0.0030	805	c.300 others(822): Show c.300-9309_300-9308insCCGGGGGCGGGGTGTGTACGGGGCGGGT GAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTG GGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(798): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAAAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATTTAAA ACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTA CATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAT GCTGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0309 a0001c0001t0012g0309	1	336	0.0030	805	c.248 others(822): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAAAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACAATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAG ATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAA TACATCCATACTACATATATATATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCG CTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(798): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATTTTTTTTTTTT TTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAT GCTGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03834.hp2 HG04228.hp2 HG00280.hp2 HG03834.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0172 a0001c0002t0001g0193 a0001c0002t0001g0194	3	336	0.0089	805	c.248 others(822): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCG CTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(798): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAT GCTGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG01975.hp2 others(3): Show HG01361.hp2 HG01496.hp1 HG01975.hp2 HG02004.hp2 HG02300.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0061 a0001c0001t0006g0093 a0001c0002t0001g0150 others(3): Show a0001c0001t0006g0061 a0001c0001t0006g0093 a0001c0002t0001g0150 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160	6	336	0.0179	805	c.248 others(822): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCG CTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(798): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATTTTTTTTTTTTTTTT TTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAT GCTGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18991.hp1 NA19078.hp2 others(1): Show HG03669.hp2 NA18991.hp1 NA19078.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0042 a0001c0002t0005 a0001c0001t0001 a0001c0001t0042 a0001c0002t0005	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0042g0080 others(1): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0042g0080 a0001c0002t0005g0178	4	336	0.0119	805	c.248 others(822): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCG CTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(798): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGA AGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTG AAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAAC ACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGT AGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTG CAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTT TGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAG AGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAA GTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTT TCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTA TACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTA TGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATAAATT TAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCAT ACTACATATATATATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCAT GCTGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	336	0.0030	805	c.248 others(822): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGGGAGGGAGGGAGG GAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAA GGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAG ATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGA CAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAAT GGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGA GGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCC TTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACT TGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGAT GGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAAT TAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCAT AGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATT TTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGG GCAATACATCCATACTACATATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCG CTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(798): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	204	0.0049	805	c.223 others(826): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTCCAGATTTATGGTTTTTATTACATAAGGTA AAAATATTACAGATACGGAAAAATTAATTCATTCAACAATAATTCAATTT ACAGAATTACAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAAT ACAGTATTTGATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAATT AATTGGCCAAATAATGCTAGGTCTCCATTTTAACCTGATTATCTGGAATT AATATTTCTCCATATTTTCACTAATGACTTTCAAACTAGTTGACTGATTT TTGCCTAAAGAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTAA CTTAAAAAGGGAAGGACAATTGTCACATTTTAAAGAATGTAATAAAATGT CATACCTGACGTAGCAAATTGTATTTTTCAAAAATAACTACAACAATATA TCCCATCCCACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGTG GGGGTTATGTCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACACACGT GATAGACAACACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATACG GTCCTTGAGTCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAGC CTGGGCTACATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTATCTCT CAATCCAGGCTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCCT CTTGGAGAGGGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461486	C C	CTATCCAC others(798): Show CTATCCACACAGCAGCCACATTCACCATGGGGGCTGTATCCGCACAGCAC ACACATTCACCGTGGAGGGCGTATCCGCACAGCGGCCACATTCACCATGG AGGGCCTATCCACACAGCGGCCACATTCACCATGGGGGGCGTATCCGCAC AGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCAC CATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGAGGGC GTATCCACACAGCAGCCACATTTACCATGGAGGGTGTATCCACACAGCAG CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACAATCACCATGGAGGGCGTATCCACAC AGCAGCCACATTTACCATGGAGGGTGTATCCGCACAGCAGCCACATTCAC CATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAG CCACAATCACCATGGAGGGCGTATCCACACAGCAGCCACATTTACCATGG AGGGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	238	0.0042	805	c.635 others(822): Show c.635-2845_635-2844insCACCCTCCATGGTAAATGTGGCTGCTGT GTGGATACGCCCTCCATGGTGATTGTGGCTGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCC GCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGC CCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCTGCTGTGCGGA TACACCCTCCATGGTAAATGTGGCTGCTGTGTGGATACGCCCTCCATGGT GATTGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCTGCTGTGTGGATACACCCTCC ATGGTAAATGTGGCTGCTGTGTGGATACGCCCTCCATGGTGAATGTGGCC GCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGC CCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGTGGATAGGCCCTCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCTCCACGGTGAATGTGTGTGCTGTGCGGATACAGCCCCC ATGGTGAATGTGGCTGCTGTGTGGATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(798): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCAC AGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCAC CATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGG CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATC CGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACA TTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGC GTATCCGCACAGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCAG CCACATTCACCATGGGGGGCGTATCCGCACAGCACACACATTCACCATGG AGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCACAC AGCACA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0009 a0011c0019t0009	a0011c0019t0009g0055 a0011c0019t0009g0055	1	238	0.0042	805	c.635 others(822): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCCTCCATGGTGAATGTGTGTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCTGCTGTGCGGATACGCCATCC ATGGTAAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCC GCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCC GCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGC CCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(798): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAA ACATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGT ATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTA TACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAAC AGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATA ATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGG TTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCA TGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTC AGAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATGTCTATTTCC TGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAAT TTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTTT ATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	374	0.0027	805	c.-51 others(816): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA AGAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAAT AAGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCT TGCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCT TTTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAG AACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTG TCAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTA ATGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAA GTGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATC AATGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTT GGATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(798): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCA GAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGGG TGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGTATTT TTATTCAGAGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGTTAGCGTGT TGATGTATTTTTATTCGAAGGGTAGCGTGTTGGTGTATTTTTATTCAGAG GGTAGGGTGTGGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTATTT TTATTCAGAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGT TGCTGTATTTTTATTCGGAGGGTAGCATGTTGCTGTATTTTTATTCGGAG GGTAGCATGTTGCTGTATTTTGATTCAGAGGGTAGCGTGTTGGTGTATTT TATTCG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	166	0.0060	805	c.771 others(822): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ATGCTACCCTCCGAATAAAAATACAGCAACACGCTACCCTCTGAATAAAA ATACATCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCT CTGAATAAAAATACATCCACACCCTACCCTCTGAATAAAAATACACCAAC ACGCTACCCTTCGAATAAAAATACATCAACACGCTAACCTCTGAATAAAA ATACAGCAACACCCTACCCTCTGAATAAAAATACAACACGCTACCCTCTG AATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAACACG CTACCCTCTGAATAAAAATACAGCAACACCCTACCCTCTGAATAAAAATA CACCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCTCTG AATAAAAATACATCAACATGCTACCCTCTGAATAAAAATACACCAACATG CTACCCTCTGAATAAAATACACCAACACGCTACCCTTCGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAACACGC TACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(798): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTGTTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCA GAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGGG TGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGTATTT TTATTCAGAGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGTTAGCGTGT TGATGTATTTTTATTCGAAGGGTAGCGTGTTGGTGTATTTTTATTCAGAG GGTAGGGTGTGGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTATTT TTATTCAGAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGT TGCTGTATTTTTATTCGGAGGGTAGCGTGTTGCTGTATTTTTATTCGGAG GGTAGCATGTTGCTGTATTTTGATTCAGAGGGTAGCGTGTTGGTGTATTT TATTCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02486.hp1 others(11): Show HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02723.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0081 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0062 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0002t0001g0037 a0001c0002t0001g0045 a0001c0002t0001g0093 a0001c0002t0002g0044	14	166	0.0843	805	c.771 others(822): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCCGAATAAAAATACAGCAACACGCTACCCTCTGAATAAAA ATACATCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCT CTGAATAAAAATACATCCACACCCTACCCTCTGAATAAAAATACACCAAC ACGCTACCCTTCGAATAAAAATACATCAACACGCTAACCTCTGAATAAAA ATACAGCAACACCCTACCCTCTGAATAAAAATACAACACGCTACCCTCTG AATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAACACG CTACCCTCTGAATAAAAATACAGCAACACCCTACCCTCTGAATAAAAATA CACCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCTCTG AATAAAAATACATCAACATGCTACCCTCTGAATAAAAATACACCAACATG CTACCCTCTGAATAAAATACACCAACACGCTACCCTTCGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAACACACCAACACGCTACCCTCTGAATAAAAATACACCAACACGC TACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(798): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTGTTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCA GAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGGG TGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGTATTT TTATTCAGAGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGTTAGCGTGT TGATGTATTTTTATTCGAAGGGTAGCGTGTTGGTGTATTTTTATTCAGAG GGTAGGGTGTGGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTATTT TTATTCAGAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGT TGCTGTATTTTTATTCGGAGGGTAGCGTGTTGCTGTATTTTTATTCGGAG GGTAGCATGTTGCTGTATTTTGATTCGGAGGGTAGCGTGTTGGTGTATTT TATTCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG02965.hp2 HG02055.hp1 HG02965.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0052 a0001c0001t0002g0060 a0001c0002t0002g0008 a0001c0001t0001g0052 a0001c0001t0002g0060 a0001c0002t0002g0008	3	166	0.0181	805	c.771 others(822): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CCGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCCGAATAAAAATACAGCAACACGCTACCCTCTGAATAAAA ATACATCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCT CTGAATAAAAATACATCCACACCCTACCCTCTGAATAAAAATACACCAAC ACGCTACCCTTCGAATAAAAATACATCAACACGCTAACCTCTGAATAAAA ATACAGCAACACCCTACCCTCTGAATAAAAATACAACACGCTACCCTCTG AATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAACACG CTACCCTCTGAATAAAAATACAGCAACACCCTACCCTCTGAATAAAAATA CACCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCTCTG AATAAAAATACATCAACATGCTACCCTCTGAATAAAAATACACCAACATG CTACCCTCTGAATAAAATACACCAACACGCTACCCTTCGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAACACACCAACACGCTACCCTCTGAATAAAAATACACCAACACGC TACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(798): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTGTTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCA GAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGGG TGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGTATTT TTATTCAGAGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGTTAGCGTGT TGATGTATTTTTATTCGAAGGGTAGCGTGTTGGTGTATTTTTATTCAGAG GGTAGGGTGTGGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTATTT TTATTCAGAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCATGT TGCTGTATTTTTATTCGGAGGGTAGCGTGTTGCTGTATTTTTATTCGGAG GGTAGCATGTTGCTGTATTTTGATTCAGAGGGTAGCGTGTTGGTGTATTT TATTCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03491.hp2 HG03834.hp2 HG00140.hp1 HG03491.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0106 a0001c0002t0001g0133 a0001c0002t0002g0077 a0001c0001t0001g0106 a0001c0002t0001g0133 a0001c0002t0002g0077	3	166	0.0181	805	c.771 others(822): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCCGAATAAAAATACAGCAACATGCTACCCTCTGAATAAAA ATACATCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCT CTGAATAAAAATACATCCACACCCTACCCTCTGAATAAAAATACACCAAC ACGCTACCCTTCGAATAAAAATACATCAACACGCTAACCTCTGAATAAAA ATACAGCAACACCCTACCCTCTGAATAAAAATACAACACGCTACCCTCTG AATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAACACG CTACCCTCTGAATAAAAATACAGCAACACCCTACCCTCTGAATAAAAATA CACCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTG AATAAAAATACATCAACATGCTACCCTCTGAATAAAAATACACCAACATG CTACCCTCTGAATAAAATACACCAACACGCTACCCTTCGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAACACACCAACACGCTACCCTCTGAATAAAAATACACCAACACGC TACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(798): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTGTTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCA GAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGGG TGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGTATTT TTATTCAGAGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGTTAGCGTGT TGATGTATTTTTATTCGAAGGGTAGCGTGTTGGTGTATTTTTATTCAGAG GGTAGGGTGTGGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTATTT TTATTCAGAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGT TGCTGTATTTTTATTCGGAGGGTAGCGTGTTGCTGTATTTTTATTCGGAG GGTAGCATGTTGCTGTATTTTGATTCAGAGGGTAGCGTGTTGGTGTATTT TATTCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00558.hp1 others(19): Show HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00738.hp2 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG02280.hp1 HG02698.hp2 HG02717.hp1 HG03540.hp1 NA18612.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18961.hp2 NA18983.hp1 NA18983.hp2 NA19001.hp1 NA19063.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0082 others(19): Show a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0135 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0003g0115 a0001c0001t0004g0104 a0001c0002t0001g0015 a0001c0002t0001g0032 a0001c0002t0001g0047 a0001c0002t0001g0079 a0001c0002t0001g0101 a0001c0002t0001g0108 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0150 a0001c0002t0002g0050 a0001c0002t0002g0111	22	166	0.1325	805	c.771 others(822): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCCGAATAAAAATACAGCAACACGCTACCCTCTGAATAAAA ATACATCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCT CTGAATAAAAATACATCCACACCCTACCCTCTGAATAAAAATACACCAAC ACGCTACCCTTCGAATAAAAATACATCAACACGCTAACCTCTGAATAAAA ATACAGCAACACCCTACCCTCTGAATAAAAATACAACACGCTACCCTCTG AATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAACACG CTACCCTCTGAATAAAAATACAGCAACACCCTACCCTCTGAATAAAAATA CACCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTG AATAAAAATACATCAACATGCTACCCTCTGAATAAAAATACACCAACATG CTACCCTCTGAATAAAATACACCAACACGCTACCCTTCGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAACACACCAACACGCTACCCTCTGAATAAAAATACACCAACACGC TACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(798): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTGTTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCA GAGGGTAGCATGTTGGTGTATTTTTATTCAGAGGGTAGCATGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGGG TGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGTATTT TTATTCAGAGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGTTAGCGTGT TGATGTATTTTTATTCGAAGGGTAGCGTGTTGGTGTATTTTTATTCAGAG GGTAGGGTGTGGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTATTT TTATTCAGAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGT TGCTGTATTTTTATTCGGAGGGTAGCGTGTTGCTGTATTTTTATTCGGAG GGTAGCATGTTGCTGTATTTTGATTCAGAGGGTAGCGTGTTGGTGTATTT TATTCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	166	0.0060	805	c.771 others(822): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCCGAATAAAAATACAGCAACACGCTACCCTCTGAATAAAA ATACATCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCT CTGAATAAAAATACATCCACACCCTACCCTCTGAATAAAAATACACCAAC ACGCTACCCTTCGAATAAAAATACATCAACACGCTAACCTCTGAATAAAA ATACAGCAACACCCTACCCTCTGAATAAAAATACAACACGCTACCCTCTG AATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAACACG CTACCCTCTGAATAAAAATACAGCAACACCCTACCCTCTGAATAAAAATA CACCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCCTCTG AATAAAAATACACCAACATGCTACCCTCTGAATAAAAATACACCAACATG CTACCCTCTGAATAAAATACACCAACACGCTACCCTTCGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAACACACCAACACGCTACCCTCTGAATAAAAATACACCAACACGC TACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATAAAAATAC ACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGA ATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(798): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCA TCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACC ACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCAC CACCACCATCATCATCATCACCACCACCACCATCACCACCACCACCACCA TCATCATCACCACCACCACCACCATCACCACCACCACCATCATCACCATC ATCACCACCACTATCATCATCATCACCACCACCATCACCACCACCACCAC CATCATCATCACCACCACCACCACCATCACCACCACCACCATCATCACCA TCATCACCACCACTATCATCATCATCACCACCACCATCACCACCACCACC ACCATCATCATCACCACCATCACCACCACCATCATCATCACCACCACCAC CATCACCACCACCACCACCATGACCACCACCACCACCCTCATCACCACCA CCACCACCATCACCATTACCACTACCACCGCCACCATCATCACCACCAGC ACCACCAACACCATCATCACCACCACCACCATCACCACCACCATCCCCAT CATCAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0044 a0001c0007t0004g0044	1	128	0.0078	805	c.116 others(824): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCA CAATCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATC ACCATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCAC CATCACCACCACCACCATCATCATCATCACCACCACCACCATCACCACCA CCACCACCATCATCATCACCACCACCACCACCATCACCACCACCACCATC ATCACCATCATCACCACCACTATCATCATCATCACCACCACCATCACCAC CACCACCACCATCATCATCACCACCACCACCACCATCACCACCACCACCA TCATCACCATCATCACCACCACTATCATCATCATCACCACCACCATCACC ACCACCACCACCATCATCATCACCACCATCACCACCACCATCATCATCAC CACCACCACCATCACCACCACCACCACCATGACCACCACCACCACCCTCA TCACCACCACCACCACCATCACCATTACCACTACCACCGCCACCATCATC ACCACCAGCACCACCAACACCATCATCACCACCACCACCATCACCACCAC CATCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(798): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATG TATATACGGAATATATATATATGGAATGTATATACGGAATATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATATGGAATATATATACGGAATATATATATATGGAATATATATACGGA ATATATACATATGGAACATATATATACGGAATATATACATATGGAACATA TATATGGAATATATACATATGGAACATATATATGGAATATATACATATGG AACATATATATGGAATATATACATATGGAACATATATATGGAATATATAC ATATGGAACATATATATGGAATATATACATATGGAACATATATATGGAAT ATATACATATGGAACATATATATGGAATATATACATATGGAACATATATA TGGAATATATACATATGGAACATATATATGGAATATATACATATGGAACA TATATATGGAATATATATATATGGAACATATATATGGAATATATATATAT GGAACATATATATATGGAATATATATATATGGAACATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	323	0.0031	805	c.-21 others(816): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAA TATATATACGGAATGTATATACGGAATATATATATATGGAATGTATATAC GGAATATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGAATATATATATATG GAATATATATACGGAATATATACATATGGAACATATATATACGGAATATA TACATATGGAACATATATATGGAATATATACATATGGAACATATATATGG AATATATACATATGGAACATATATATGGAATATATACATATGGAACATAT ATATGGAATATATACATATGGAACATATATATGGAATATATACATATGGA ACATATATATGGAATATATACATATGGAACATATATATGGAATATATACA TATGGAACATATATATGGAATATATACATATGGAACATATATATGGAATA TATACATATGGAACATATATATGGAATATATATATATGGAACATATATAT GGAATATATATATATGGAACATATATATATGGAATATATATATATGGAAC ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
LHPP_chr10_124456823_124619141	124471453	A A	ATATTTAT others(798): Show ATATTTATATATATTTTATATATATTTATATATATATAAATTTTTTTATA TTTATATATTTTTTATATATTTATATATATTACATATATTTTTATATTTT ATATATATTTATATATTTTATATATTTATATATTTTTTATATATTTATAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTAT ATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATTT ATATATATTTATATATTTATGTATATATTTATATATATTTATATATTTAT GTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTAT TTATATATATTTATATATTTATATGTATTTATACATATATATTTATATGT ATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATTTATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATATTTATATATATTTATATA TATATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	260	0.0039	805	c.125 others(822): Show c.125+9467_125+9468insATTTATATATATTTTATATATATTTATA TATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATAT TACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATA TATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGT ATATTTATATATATATTTATATATATTTATGTATATTTATATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATG TATTTATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTA others(798): Show ATATATTATTTATATATATATTTATATATATTTATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATATATTTTTATATATATTTATATATATTTTTATA TATAGTTATATATATTTATATATAGTTATATATATTTATGTATAGTTATA TATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTTA TATATAGTTATATATATAGTTATATATATATATTTTTATATATATAGTTA TATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATT TATATATATAGTTATATATTTATATATATTTATATATATTTATATATATA TTTATATATTTATTTATATATATTTATATATGTATTTATATATATTTATA TGTATTTATATATATTTATATATATTTATATATATATATAAATATATTTA TATATATAAATATAAATATTTATATATATTTATATATATTTATATATATA TTTATGTATATTTATATATATTTATATATATATTTATGTATATTTATATA TGTATT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01433.hp2 HG01515.hp2 HG01070.hp2 HG01433.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0172 a0001c0001t0003g0171 a0001c0001t0004g0173 a0001c0001t0001g0172 a0001c0001t0003g0171 a0001c0001t0004g0173	3	260	0.0115	805	c.125 others(822): Show c.125+9673_125+9674insATTATTTATATATATATTTATATATATT TATATATATTTATATATATTTATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATTTATATATATTTATATATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATATATTTTTATATATA TTTATATATATTTTTATATATAGTTATATATATTTATATATAGTTATATA TATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTA TAGTTATATATATAGTTATATATAGTTATATATATAGTTATATATATATA TTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATA TATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGT TATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATA TATAGTTATATATATATTTATATATATAGTTATATATTTATATATATTTA TATATATTTATATATATATTTATATATTTATTTATATATATTTATATATG TATTTATATATATTTATATGTATTTATATATATTTATATATATTTATATA TATATATAAATATATTTATATATATAAATATAAATATTTATATATATTTA TATATATTTATATATATATTTATGTATATTTATATATATTTATATATATA TTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPKAP1_chr9_125432394_125712208	125623729	G G	GGCCAGCC others(798): Show GGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGG AGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGGA GGTGGGGGGGTCAGCCCTCCCCCTGGCCAGCCGCCCCGTCTGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCTGTCTGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCC GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAA GGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGGGTCGGCCCCCATCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCACGCCCGGCCAGCCGCCCCGTCCGGGAGG TAAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	300	0.0033	805	c.498 others(824): Show c.498+33921_498+33922insTGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTTACCTCCCGGACGGGGCGGCTG GCCGGGCGTGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGATGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTCCCAGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCCAGGGGGAGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCC CCACCTCCCTCCCGGATGGGGCGGCTGGC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar
MED16_chr19_862963_898187	871898	A A	AGGGGGGA others(798): Show AGGGGGGAGCGGGGAGAGGGGGGAGCGGGGAGAGGGGAGAGGGGGGAGCG GGGAGGGGCGGGGAGGGGCGGGGGGAGCGGAGAGGGGCGGGGGGGAGCGG GGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGG GAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGG GCGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGAGGGGCA GGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGGAGCGGGGGGGGGCGGGGG GGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGAGGGGCGGGGG GGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGA GGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGG GGGGCGGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGCGGGGAGG GGCGGGGAGGGGCGGGGGGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGG CGGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGCGGGGAGGGGCG GGGGGGGGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGG GGGGGCGGGGGGGAGCGGGGGGGGCGGGGGGGAGCGGGGAGGGGCGGGGG GGAGCGGGGAGGGGCGGGGGGGGGGCGGGGAGGGGCGGGGGGGGGGCGGG GAGGGGCGGGGGGGGGCGGGGGGAGCGGGGGGGAGCGGGGAGGGGCGAGG GGGAGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	1	56	0.0179	805	c.209 others(820): Show c.2098+27_2098+28insGCTCCCCCTCGCCCCTCCCCGCTCCCCCCC GCTCCCCCCGCCCCCCCCCGCCCCTCCCCGCCCCCCCCCCGCCCCTCCCC GCCCCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCC CGCCCCCCCCGCTCCCCCCCGCCCCCCCCGCTCCCCCCGCCCCTCCCCGC TCCCCCCGCCCCTCCCCGCCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCC CTCCCCGCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCCCCC CCCGCCCCCCCCCGCCCCTCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCC CCGCCCCCCCCGCCCCTCCCCGCCCCCCCCCGCCCCTCCCCGCTCCCCCC CGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCC CGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCCCCTCCC CGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCCCCCCGCTCCCCCC CGCCCCCCCCGCCCCCCCGCCCCCCCTGCCCCTCCCCGCCCCTCCCCGCT CCCCCCGCCCCTCCCCGCTCCCCCGCCCCTCCCCGCTCCCCCCGCCCCTC CCCGCTCCCCCCGCCCCTCCCCGCTCCCCCGCCCCTCCCCGCTCCCCCCG CCCCTCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCTCCGC TCCCCCCGCCCCTCCCCGCCCCTCCCCGCTCCCCCCTCTCCCCTCTCCCC GCTCCCCCCTCTCCCCGCTCCCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(798): Show GCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCCC TCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCC CCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCTCCCCTCCCCCCTCCCCCTCCCTCCCCCT CCCCTCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCTCC CCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCTC CCCCCTCCCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCTCCCT TCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCC CCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCCTCCTCC CCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCC CCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTC CTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCT CCCCAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0070 a0002c0006t0007g0070	1	278	0.0036	805	c.115 others(822): Show c.1157+156_1157+157insCTCCCCTCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCT CCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCC TCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCTCCCCTCCCCCCTCCCCCTCCCTCCC CCTCCCCTCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCC TCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCC CTCCCCCCTCCCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCTC CCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCC TCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCCTCC TCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCC TCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCT CTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCC CCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGGGG others(798): Show GAAGGGGGGAAGGGGGGAAGGGGGGAGGAGGGGGAAGGAGGGGGAAGGAG GGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGG GAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGAAGGGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAA GGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGAAAGGGGTGA GGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGA GGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGG GAGGGGGGAGAGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGG GAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGG AGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGG GGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGG AGGGGGAGGGAAGGGAGGGAGGGGGGAGGGGGAGGGAGGGGAGGGGGAGG GAGGGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	272	0.0037	805	c.250 others(820): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCCC CCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCT CCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACT CCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCC CCCTCCCTTCCCTCCTCTCCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCTTCCCCCCTT CCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCTTCCCCCCTTCCCCCCACCCCTTTCCCCCCTTCCCCCGCCCCTTTTCC CCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCT CCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCC TCCCCCCTTCCCCCCTTCCCCCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(798): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAA AGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGG ATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAG GGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGG AGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGGG AGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGA GGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGG GGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGGA GGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGA GGGTGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	272	0.0037	805	c.250 others(820): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTT CCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTT CCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCAC CCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCC CCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCT TCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT CCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(798): Show TGTCTCCTCTCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCTCTCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCCCCTCC CCTTCCCCTCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCCTTCCCCTC CCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCTCTCCCC TTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTC CCCTCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0286 a0001c0001t0005g0286	1	326	0.0031	805	c.433 others(822): Show c.433+1028_433+1029insGGAGGGGAAGGGGAAGGGGGAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGGAAGGGGGAGGGG GAGGGGAGGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGG GAGGGGGAAGGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGGAGGGGAG GAGAGGAGAGGAGAGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	949109	G G	GGCCTCCT others(798): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGT GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTC CTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC CCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCG GCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT GCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC CCCCCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	242	0.0041	805	c.360 others(824): Show c.360+30209_360+30210insAGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PHRF1_chr11_571470_617222	585405	T T	TTGAGGTA others(798): Show TTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTT CCAGCA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	279	0.0036	805	c.215 others(822): Show c.215-1842_215-1841insTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCTCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(798): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGCCCTTT CCAGCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	279	0.0036	805	c.215 others(822): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAG TAGCCCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(798): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCA GCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGCCCTTT CCAGCA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02717.hp2 HG01346.hp1 HG02717.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0222 a0003c0004t0003g0269 a0003c0004t0003g0222 a0003c0004t0003g0269	2	279	0.0072	805	c.215 others(822): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAG TAGCCCTTTCCAGCATGAGGTAGTAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	585658	T T	TTGAGGTA others(798): Show TTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCA GCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGCCCTTT CCAGCA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0246	1	279	0.0036	805	c.215 others(822): Show c.215-1585_215-1584insTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCT TTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGATAGTAGC CCTTTCCAGCATGAGGTAGTAGCTCTT	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(798): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGAGAGGGGGAGAGAG GGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAGGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGA GGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG AGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGT GAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGT GAGAGAGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGA GAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAA GAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGA GAGAGAGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGA GAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGA GAGAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0075 a0009c0013t0001g0075	1	308	0.0033	805	c.371 others(822): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCTCTC ACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTC GCCCTCTCTCTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTC GCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTC TCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCC CTCTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCC CCTCCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCC CCCTCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCT CTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCC CTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCTTCTCT CCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCC CCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCC CTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PXDN_chr2_1626887_1749515	1710778	T T	TCCACCAG others(798): Show TCCACCAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCTGCTCC ACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCACCCACTCTATG AACACCCGCTCCACCAGTACCCACTCTCCACCAGCACCCGCTCTCCACCA GCACCCGCTCCACCAGTACCCACTCTCCACCAGCACCCGCTCCACCAGCA CCCACTCCACCAGCACCCACTCCACCAGCATCCACTCTACCAGCACCCGC TCCACAAGCACCCACTCTCCACCAGCACCCACTCTCCACTAGCACCCACT CCACCAGCACCCACTCTCCACCAGCACCCACTCTCCACCAGCACCCACTC CACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAGCACCCACTCCAC CAGCACCCACTCTCCACCAGCACCCACTCCACCAGCATCCACTCTACCAG CACCCGCTCCACCAGCACCCACTCTCCACCAGCACCCACTCTCCACCAGC ACCCGCTCCACCAGCACCCGCTCCACCAGCACCCACTCTCCACCAGCACC CGCTCCACCAGCATCCACTCTACCAGCACCCGCTCCACAAGCACCCACTC TCCACCAGCACCCACTCTCCACTAGCACCCACTCCACCAGCACCCACTCT CCACCAGCACCCGCTCCACCAGCACCCACTCTCCACCAGCACCCACTCCA CCAGCATCCACTCCACCAGCACCCACTCTCCACCAGCATCCACTCTCCAC CAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCCGCTCCACCAG CACCCA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	322	0.0031	805	c.201 others(824): Show c.201-17645_201-17644insTGGGTGCTGGTGGAGCGGGTGCTGGT GGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGTGGATGCTGGTG GAGAGTGGGTGCTGGTGGAGTGGATGCTGGTGGAGTGGGTGCTGGTGGAG AGTGGGTGCTGGTGGAGCGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGT GGGTGCTAGTGGAGAGTGGGTGCTGGTGGAGAGTGGGTGCTTGTGGAGCG GGTGCTGGTAGAGTGGATGCTGGTGGAGCGGGTGCTGGTGGAGAGTGGGT GCTGGTGGAGCGGGTGCTGGTGGAGCGGGTGCTGGTGGAGAGTGGGTGCT GGTGGAGAGTGGGTGCTGGTGGAGCGGGTGCTGGTAGAGTGGATGCTGGT GGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGA GCGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAG TGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTAGTGGAGAGT GGGTGCTGGTGGAGAGTGGGTGCTTGTGGAGCGGGTGCTGGTAGAGTGGA TGCTGGTGGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGCGGGTGCTG GTGGAGAGTGGGTACTGGTGGAGCGGGTGCTGGTGGAGAGCGGGTGCTGG TGGAGAGTGGGTACTGGTGGAGCGGGTGTTCATAGAGTGGGTGCTGGTGG AGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGCAGGTGCTGGTGGAGA GTGGGTGCTGGTGGAGTGGGTGCTGGTGG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	492360	T T	TCCTCCCG others(798): Show TCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	1	295	0.0034	805	c.126 others(824): Show c.1265+3361_1265+3362insCTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCC GAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(798): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATAATATGTAATACACAATATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATATA AGTATATGTAATATATATTATACATTATTATATAAGTATATGTAATATAT ATTATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG02622.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0002 a0001c0001t0006g0003 a0001c0001t0002g0002 a0001c0001t0006g0003	2	220	0.0091	805	c.24+ others(822): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATAATA TGTAATACACAATATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACACAATATATTATATAATAATATGTAATACACAATATATTATATAA TAATATGTAATACACAATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAA TACATTATACATTATTATATAAGTATATGTAATATATATTATACATTATT ATATAAGTATATGTAATATATATTATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(798): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGAGGAGGGGGCCAC ATGGGGAGGAGTGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGG GGGCTGTGAGGAGAGGAAGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC ACATGGGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAG GGGGCCCCGTGAGGAGGAGGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGG GGAGGAGGGGGTCGCGTGGGGAGGAGGCGCCATGTGGGGAGGAGGGGGCC GCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGA GGGGGCCGCGAGGGGAGGAGGGGGCCGTGTGGGGAGGAGGGGGCCGCGTG GGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGC CGCGTGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAG GAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGAGGAGGGGGCCGCGTG GGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGG CCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAG GAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCG TGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGG GGCCGC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0021	1	67	0.0149	805	c.159 others(822): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCACGCGGCCCCC TCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGC GGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTC CCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCC CCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCACA CGGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTC CCCACGCGGCCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGCG CCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCAC ACGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCC TCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACATGGC GCCTCCTCCCCACGCGACCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCA CGCCTTCCCCTCCTCCTCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTC CTCCCCACGCGGCGCCTCCTCCCCATGTGGCCCCCTCCTCCCCACGCGGC TCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTCCCC ACGGGGCCCCTTCCTCTCCTCACAGCCCCCTCCTCCCCACGCGGCCCCCT CCTCCCCTCGCGGCCCACTCCTCCCCATGTGGCCCCCTCCTCCCCATGCC TTCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(798): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	304	0.0033	805	c.66+ others(820): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(798): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATA AGCTAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	304	0.0033	805	c.66+ others(820): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(798): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18943.hp1 NA18955.hp2 others(2): Show HG01934.hp1 NA18943.hp1 NA18955.hp2 NA19003.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0003g0040	5	304	0.0165	805	c.66+ others(820): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 7053 hits)