Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(957): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTA GCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTTATGCAGCTCA GATGCCCACTCCATGACAGGTATGAGCTGACCTGGGCATGCATTCTCTGC AGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTGATACATCCTGCTG AAGGTAGACATCTCTGTGTTTCCTTATTTTGTAATCCTTTCAAGCCTTCT GAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGACAAGCCTGCTACTC AGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGGCACTGAGGCTACA GAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCT TCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTC TCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0006 a0001c0002t0024g0006	1	114	0.0088	964	c.56- others(981): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGGTAGCG GCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCTCAGTG CCTAGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCAGGCTT GTCCAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCTTGAAA GGATTACAAAATAAGGAAACACAGAGATGTCTACCTTCAGCAGGATGTAT CAACCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAATGCAT GCCCAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGCATAAG GGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTCCTTCC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCT TCCTTTCCTTCCTTTCCTTTCCTTTCTTTTTCTTCTTCTTTTCTCTCTCT CTCTCTCTCTCCCCACAAGCCTCCTCCACTGCATATTAGCCACTGCTGTA ACAAGTATACTAATGTCTCCTCATCAATTTTTATCTCCCAATGCCCAGTA TGCAGCAACGATATGAACAAGAGTTCAGGCAGGCTTTACAGGATTCCCAC CAGGTTGGGTGGGAGGTGCGGACATGCTTCTCACCCATGTTTTCTGGCAT TCGCAGTCCCTCACTCAATTGCCCCCTCCCCAGGGCTGCTCTTGGGCAGG ACAGAAAAGCAGCTGCACAGGGAAGGAGGCTTGTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(957): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATCCATATA TATATATCCATATATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATCCATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TCCATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATATCCATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	284	0.0035	964	c.126 others(981): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATGGATATATAT ATATATGGATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATGGATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATGGATATATATATATATATGGATATATATATATGGATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(957): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATCCATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0253	1	284	0.0035	964	c.126 others(981): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATGGATAT ATATATGGATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATGGAT ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(957): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGT CCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCC TCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCT CTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCT TCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCT CCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTC TCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTC TCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTT CCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCC CACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCT CCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTC CCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCC CTCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCTCCTCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG03225.hp2 others(2): Show HG02109.hp2 HG02615.hp2 HG03225.hp2 HG03486.hp1 NA20129.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0023 a0001c0001 a0013c0023	a0001c0001t0001 a0001c0001t0014 a0001c0001t0056 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0056 a0013c0023t0001	a0001c0001t0001g0049 a0001c0001t0001g0089 a0001c0001t0014g0076 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0089 a0001c0001t0014g0076 a0001c0001t0056g0026 a0013c0023t0001g0032	5	276	0.0181	964	c.100 others(983): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTT CCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCT CTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCC ATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCC CATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCC TCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCC CCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCT CCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTC TCCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCAC CCCTCCCCCTCCCCCTCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCTCCTCCTCCCCCTCTCCCCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(957): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTC CCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCT CCCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCTC CCTCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCC CTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCTCCC CTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTT CCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCT CCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCC CTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCC CCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTT CCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTCCCC CCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTC TCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCT TCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACC CCTCCCCTCCCCCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0173 a0002c0014t0001g0173	1	278	0.0036	964	c.115 others(981): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCTCCCCCTGCCCTCCCCCCTCCC CTCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCC CCTCCCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CTCCCTCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCTC CCCCTCCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCC CCCCTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCCT CCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCC CTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCC CCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATC CCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCC TCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCC CTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCTC CCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTC CTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTC CCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCC ACCCCTCCCCTCCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(957): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGG AGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGA GGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAG GAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAA GGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGG GGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGA GCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAG AAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGG CGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGA AAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGA GGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGA AAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGG GGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGA AGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01123.hp2 others(13): Show HG00639.hp1 HG00642.hp2 HG01123.hp2 HG02015.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0011 a0017 a0026	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0004c0005 a0004c0055 a0005c0024 a0011c0044 a0017c0018 a0026c0028	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0004c0005t0001 a0004c0055t0001 a0005c0024t0001 a0011c0044t0003 a0017c0018t0003 a0026c0028t0001	a0001c0001t0001g0041 a0001c0001t0001g0067 a0001c0001t0001g0129 others(12): Show a0001c0001t0001g0041 a0001c0001t0001g0067 a0001c0001t0001g0129 a0001c0001t0001g0187 a0001c0001t0001g0219 a0001c0002t0001g0074 a0001c0002t0001g0186 a0001c0007t0001g0012 a0004c0005t0001g0115 a0004c0055t0001g0040 a0005c0024t0001g0260 a0011c0044t0003g0128 a0017c0018t0003g0130 a0017c0018t0003g0131 a0026c0028t0001g0019	16	280	0.0571	964	c.641 others(979): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCT CCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCT CCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTT TCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(957): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGGAGGAGGC GGAGCAGTAGGGAGAGAAGAGTGAAGAGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGAGGGAGAGAAGGGGGGAGGA GGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAG GGAGAGGAGGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAG GAGGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAA AGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAG GGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGAAAAGGGGAGGAGGCGGA GCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAG AAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGG CGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGA AAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGA GGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGA AAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGG GGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGA AGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0074 a0004c0074	a0004c0074t0001 a0004c0074t0001	a0004c0074t0001g0118 a0004c0074t0001g0118	1	280	0.0036	964	c.641 others(979): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCC CCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCCTCCTCTCCCTCTTCACTCTTCTC TCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTC TCCCTCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTT TCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(957): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGG GGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAG AGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGG GGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAG AGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAG GAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAA GGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGG GGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGA GCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAG AAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGG CGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGA AAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGA GGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGA AAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGG GGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGA AGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0109 a0001c0050t0001g0109	1	280	0.0036	964	c.641 others(979): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCT TCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTC TCTCACTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(957): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAG GGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGG GGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGG GAGGGGGAGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAG GGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGG GGGAGGGAGGAGGGAGGGGAGTGGAGGGGAGGGGGAGGGAGGGGAGGGGA GGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGGG GAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGA GGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGG AGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	272	0.0037	964	c.250 others(979): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTCC CCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTC TTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTC TTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCCCTCCCTCCCCCTCCCCCTCCATCCTCCC CTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCC CCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTT CCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(957): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGA GGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGAGG TGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGGGGGAGGAGGGGA GGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGG GGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAG GGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGAGG GGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAGGG GGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGGG AGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAG GGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGGGA GGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGAG GAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGG GGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGA GGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGA GGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGG GAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGA GAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0153 a0001c0008t0001g0153	1	208	0.0048	964	c.279 others(979): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCCC CCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCCCC CCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCCTCCCC CTTCCTCCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCC TCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCCCC TCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTT CCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NXN_chr17_794310_984776	841572	G G	GGCGCATC others(957): Show GGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCA CGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACGCCGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACG GCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACA CGGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCACCCTGACC ACGGCGCATCTCACATGGGCGAGCAGGTCCTCCCGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCT GACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCA TCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCA CCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCTGACCACAG CGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCACCCTGACCACA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0151 a0001c0001t0022g0151	1	242	0.0041	964	c.361 others(983): Show c.361-15495_361-15494insTGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGG GGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCG TGGTCGGGAGGACCTGCTCGCCCATGTGAGATGCGCCGTGGTCAGGGTGG ACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGG GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGC CCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGGGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCGGCG TGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCGCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(957): Show AGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGA GCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCAAGCAGG TCCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGAGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTC ACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAG CAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCC GACCACAGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACGCCGG CGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCC CCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACA GCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCAC ACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCACACGGGCAAGCAG GTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGAC CATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGG GCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGC ATCTCACACCCACAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	242	0.0041	964	c.361 others(983): Show c.361-15514_361-15513insCTGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTG AGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTG GTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGAC CTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTTGCCCG TGTGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGC TGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCGGGA GGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGA TGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCGGCGTGAGATGCTCTGTGGTCGGGGGGACCTG CTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCG TGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTTGCCC GTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCCATGGTCGG GAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(957): Show TGGGGAGAGAAGGGGAGGGAGAAGGGGATGGGGAGAGAAGGGGATGGGGA GAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGA GAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGG GAGAGAAGGGGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGGGAGAGGGG GAGGGGGAGAGAGGGGGAGAGAAAGGGAGGGGGAGAGAGGGGGAGAGGGG GAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAG GGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGG AGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGGGAGAGGAGGGGGAGGAGG GGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGGAGG GGGAGAGGGGGAGAGGGGGAGGAGGGGGGAGGGGGAGAGGGGGAGAGGGG GAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGG GAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAATGGGAAGGGGCA AGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAG AGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAG AGGGTGGGCAAGAGAGAGAGGGCAAGGGCGAGAGAGAGAGAGGGCGGGCG AGAGAGGGCGGGCGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGG CGGGCAAGAGAGAGAGAGAGAGGGCGGTCAAGAGAGAGAGAGAGGGCGGG CAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAG GGAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0232 a0003c0004t0001g0232	1	308	0.0033	964	c.371 others(981): Show c.3718+654_3718+655insTTTCTCTCCCTCTCCCTCTCGCCCTCTC CCTCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTC TCTCTCTTGACCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCGCCCGCCCTCTCTCGCCCGCCCTCTC TCTCTCTCGCCCTTGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGC CCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTC GCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCAT TTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCT CCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCTCCT CCCCCTCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTC CTCTCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCCTCCCCC TCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCCT CCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCT CTCTCCCCCTCCCTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCCCCCC CTCTCCCCCTCCCCTTCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCC CCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCC CACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTT CTCTCCCCATCCCCTTCTCCCTCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCTATC others(957): Show CATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCA TCCATCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCTATCCATCTATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0048 a0002c0003t0006g0048	1	420	0.0024	964	c.107 others(981): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATAGATGGAT GGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(957): Show CATCCATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCTAACCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCTATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATTCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCAGTGTTGGTCCATCTACCATCCATCATCCTCCCCCTC CTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0042 a0002c0003t0001g0042	1	420	0.0024	964	c.107 others(981): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGTTAGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATAGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGAAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATAGATGGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A3_chr5_1387794_1450440	1422856	C C	CCACAGTG others(957): Show CCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGT ACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCC AGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAC GCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTAC CCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAC AGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAT GCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGC CCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTGCCCACCGCTGCCC ACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCAC GCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCC ACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAC GCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCCC ACCGATGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAC AGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAA GGTGCTGGGTAACCACCGCTGCCCACAGTGCTGCTCACGGTGCTGGGTAC CCACCGCTGCCCACAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCC ACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 NA18522.hp2 HG02258.hp1 HG02280.hp1 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0010 a0001c0009t0005g0021 a0001c0009t0005g0042 a0001c0009t0005g0010 a0001c0009t0005g0021 a0001c0009t0005g0042	3	373	0.0080	964	c.654 others(979): Show c.654-843_654-842insTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTG AGCAGCACTGTGGGCAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGG CACCCAGCAGCGTGGGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCG TGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCG TGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGG CACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTG GGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGG CAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCA GCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(957): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATATATAATATATTATATAA CTATATATTATATATATATTATATATTATATAACTATATATTATATATTA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATATATATTATATATTATATAACTAT ATATTATATATATATATTATATATTATATAACATATATTATATATATATA TTATATATTATATAACTATATATTATATATATATTATATATTATATAACT ATATATTATATATATATTATATATTATATAACTATATATTATATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	268	0.0037	964	c.73 others(975): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATATA TAATATATTATATAACTATATATTATATATATATTATATATTATATAACT ATATATTATATATTATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATATATATTAT ATATTATATAACTATATATTATATATATATATTATATATTATATAACATA TATTATATATATATATTATATATTATATAACTATATATTATATATATATT ATATATTATATAACTATATATTATATATATATTATATATTATATAACTAT ATATTATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(957): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATTATATATTATATAACTATATATTATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATATATATTATATATTATATAACTATATA TTATATATATATATTATATATTATATAACTATATATTATATATATATATT ATATATTATATAACATATATTATATATATATATTATATATTATATAACTA TATATTATATATATATATTATATATTATATAACTATATATTATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACATATATTATATATAATATATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	268	0.0037	964	c.73 others(975): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATTATATATTATATAA CTATATATTATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATATATATTATATA TTATATAACTATATATTATATATATATATTATATATTATATAACTATATA TTATATATATATATTATATATTATATAACATATATTATATATATATATTA TATATTATATAACTATATATTATATATATATATTATATATTATATAACTA TATATTATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACATATATTATATATA ATATATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
WDR7_chr18_56646359_57034792	57024580	A A	AATTTCAC others(957): Show AATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGA GCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTT ATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTAT TCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAG GATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG AACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGT TATGTCCCTTACAGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0081 a0001c0004t0004g0081	1	144	0.0069	964	c.427 others(983): Show c.4270-2401_4270-2400insACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGA GCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTT ATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGAGCTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTAT TCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTACAG GATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG AACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(958): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCATGAGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCCCC AGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	368	0.0027	965	c.401 others(982): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCATGAGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATGCCTCCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGA CACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACA GGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
CDH4_chr20_61247261_61945617	61331582	C C	CCCCAGGC others(958): Show CCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCTCAGATCTACCTCCTGC CCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGA CCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTGCCCCGGCC ACCTGCCCTAGAGCCACCTCCTGCCCCGGCCACCTGCCTCAGGCCCACCT CCTGCCCCGGCCACCTGCCCCAGATCTACCTCCTGACCCGACCACCTCCC CCAGGCTCACCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCC CGGCCACCTGCCCCAGAGCCACCTCCTGACCCGACCACCTCCCCCAGGCT CACCTCCTGCCCCGACCACCTGCCCCAGGCCCACCTCCTGCCCCAGACCC ACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCTCCTGCCCCGGCCACC TGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCTCCT GCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCA GGCCCACCTCCTGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAG ACTCACCTCCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGC CACCTACCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACC TCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGC CCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCC CCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGT CTACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGTCA CCTGTCCCAGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCC TGCCCCGGCCACCTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01106.hp1 others(12): Show HG00408.hp2 HG00738.hp2 HG01106.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG02040.hp1 HG02040.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG03209.hp2 HG03453.hp1 HG03704.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0002c0002 a0002c0004 a0002c0005 a0002c0024	a0001c0001t0002 a0001c0001t0009 a0001c0001t0050 others(12): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0050 a0001c0003t0002 a0001c0007t0010 a0001c0013t0006 a0002c0002t0004 a0002c0002t0005 a0002c0002t0012 a0002c0002t0014 a0002c0002t0039 a0002c0004t0002 a0002c0005t0007 a0002c0005t0030 a0002c0024t0047	a0001c0001t0002g0060 a0001c0001t0009g0019 a0001c0001t0050g0063 others(12): Show a0001c0001t0002g0060 a0001c0001t0009g0019 a0001c0001t0050g0063 a0001c0003t0002g0002 a0001c0007t0010g0037 a0001c0013t0006g0036 a0002c0002t0004g0070 a0002c0002t0005g0014 a0002c0002t0012g0082 a0002c0002t0014g0062 a0002c0002t0039g0058 a0002c0004t0002g0080 a0002c0005t0007g0100 a0002c0005t0030g0103 a0002c0024t0047g0051	15	106	0.1415	965	c.169 others(984): Show c.169+76677_169+76678insTCAGATCTACCTCCTGCCCCGGCCAC CTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCC TGACCCGACCACCTCCCCCAGGCTCACCTCCTGCCCCGGCCACCTGCCCT AGAGCCACCTCCTGCCCCGGCCACCTGCCTCAGGCCCACCTCCTGCCCCG GCCACCTGCCCCAGATCTACCTCCTGACCCGACCACCTCCCCCAGGCTCA CCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCT GCCCCAGAGCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTG CCCCGACCACCTGCCCCAGGCCCACCTCCTGCCCCAGACCCACCTCCTGC CTCAGCCACCTGCCCCAGACTCACCTCCTGCCCCGGCCACCTGCCCCAGA GCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCTCCTGCCCCGGCC ACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCT CCTGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCTC CTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACCC CAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCC GGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCC ACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACC TGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCTCCT GCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGTCACCTGTCCCA GCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGC CACCTGTCCCAGGCCCACCTCCTGCCCCGGCCACCTGCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(958): Show TCTCTCCCCCACTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTAC CTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTC CTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCC CTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCC CTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCT CTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCC ATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTC CCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCC TCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCT CCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCC TTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCC TCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	320	0.0031	965	c.380 others(982): Show c.380-7767_380-7766insCCCACTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTC CCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCT CCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCC TCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTC TCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCC TCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCT CTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTC TTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTC CTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCT TCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCT CTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(958): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTAC CTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTC CTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCC CTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCC CTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCT CTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCC ATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTC CCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCC TCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCT CCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCC TTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCC TCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(26): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG01081.hp2 HG01261.hp1 HG01433.hp1 HG02056.hp2 HG02083.hp2 HG02135.hp2 HG02280.hp2 HG02559.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03491.hp1 HG03704.hp1 HG03704.hp2 HG04204.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18978.hp1 NA18983.hp1 NA19085.hp1 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0009 a0008c0007 a0001c0001 a0001c0009 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0009t0001 a0008c0007t0003	a0001c0001t0001g0160 a0001c0001t0001g0198 a0001c0001t0001g0202 others(26): Show a0001c0001t0001g0160 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0235 a0001c0001t0002g0310 a0001c0001t0003g0206 a0001c0001t0003g0220 a0001c0001t0003g0259 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0005g0155 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0013g0196 a0001c0009t0001g0191 a0008c0007t0003g0267	29	320	0.0906	965	c.380 others(982): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTC CCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCT CCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCC TCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTC TCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCC TCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCT CTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTC TTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTC CTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCT TCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCT CTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(958): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTAC CTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTC CTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCTTCCTGTCCCTCTCTCC CTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCC CTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCT CTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCC ATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTC CCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCC TCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCT CCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCC TTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCC TCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	320	0.0031	965	c.380 others(982): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTC CCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCTT CCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCC TCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTC TCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCC TCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCT CTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTC TTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTC CTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCT TCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCT CTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(958): Show TCTCTCCCCCCTTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTAC CTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTC CTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCC CTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCC CTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCT CTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCC ATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTC CCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCC TCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCT CCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCC TTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCC TCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00673.hp1 others(33): Show HG00280.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01257.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02148.hp2 HG02273.hp2 HG02523.hp2 HG03491.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18612.hp1 NA18943.hp2 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18966.hp2 NA18971.hp1 NA19005.hp2 NA19007.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0024 a0001c0012t0002	a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0237 others(33): Show a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0287 a0001c0001t0001g0295 a0001c0001t0001g0314 a0001c0001t0002g0005 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0232 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0276 a0001c0001t0002g0281 a0001c0001t0002g0315 a0001c0001t0011g0208 a0001c0001t0011g0212 a0001c0001t0011g0221 a0001c0001t0024g0269 a0001c0012t0002g0278	36	320	0.1125	965	c.380 others(982): Show c.380-7767_380-7766insCCCCTTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTC CCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCT CCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCC TCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTC TCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCC TCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCT CTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTC TTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTC CTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCT TCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCT CTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(958): Show TCTCTCCCCCCTTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTAC CTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTC CTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCTTCCTGTCCCTCTCTCC CTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCC CTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCT CTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCC ATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTC CCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCC TCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCT CCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCC TTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCC TCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04199.hp1 HG02698.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0258 a0001c0001t0002g0262	2	320	0.0063	965	c.380 others(982): Show c.380-7767_380-7766insCCCCTTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTC CCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCTT CCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCC TCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTC TCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCC TCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCT CTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTC TTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTC CTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCT TCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCT CTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(958): Show TCTCTCCCCCCTTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCT CTCTCTCTGCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCC CTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCT CTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTAC CTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTC CTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCC CTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCC CTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCCT CTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCC ATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTC CCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCC TCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCT CCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCC TTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCC TCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	320	0.0031	965	c.380 others(982): Show c.380-7767_380-7766insCCCCTTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCTCCCTCACGTCCTCTCTCTCTGCCCCCTCCCCCTCCCTCTCCCCTTCC TCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCC TCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCC CCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTC CCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCT CCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCC TCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTC TCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCC TCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCT CTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTC TTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTC CTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCT TCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCT CTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613681	C C	CACCTCCT others(958): Show CACCTCCTCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTC CTCTCCCTCTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCT CTCCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCC CCCCTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTC TCCCTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCTCCC TCTCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCT CCCCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCT CTAATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTT CCTCTCCCCCTCTCCCTCTCTACCTCTCCCCCTCTACCTCTCCCCGTCTC CCTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTC CCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCC CCTCCCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTC TCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCC CCTCTCCCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCT CCCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTC CTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCC CTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCC TCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCT CTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCC CCTCTCCTCCTCTCTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0029 a0002c0002t0006g0029	1	320	0.0031	965	c.380 others(982): Show c.380-7748_380-7747insACCTCCTCTCTCTCTCCCCCTCTCCCTC TCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCCTCTCCC CTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCT CTCTCCTCCTCCCCCTCTCCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCT CCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTCTCC CCCTCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTC CTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCC CCCTCTACCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCC CCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCT CCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCC CTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCC CTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCC TCCCCCTCCCTCTCCCCCTCCCCTCTCCTCCTCTCTA	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(958): Show GGTGGTGGTGATGATGATGATGATGATGGTGATGATGATGATGATGGTGA TGATGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATG ATGATGGTGATGATGGTGATGATGATGGTGATGGTGATGATGACGGTGAT GATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGA TGATGGTGATGATGAGGATGATGATGGTGATGATGATGGTGGTGATGGTG ATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGAT GATGGTGATGATGATGGTGGTGATGATGATGGTGATGGTGATGATGGTGA TGATGATGATGGTGATGATGATGATGGTGGTGATGATGGTGATGATGGTG ATGGTGATGATGGTGATGAGGATGATGATGATGGTGATGATGATGGTGGT GATGATGGTGATGGTGATGGTGATGATGGTGATGATGATGATGGTGATGG TGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGATGATGGTG ATGATGGTGATGATGATGGTGATGATGGTGATGGTTATGATGGTGATGGT GATGATGAGGATGATGATGGTGATGGTGATGATAAGGATGATGATGATGA TGAGGATGATGATGGTGATGATGATGGTGATGACGATGATGGTGATGATG ATGGTGATGACGATGATGGTGATTGTGATGATGGTGATGATGATGAGGAT GGTGATGATGGTGATGGTGATGATGATGGTGAGGATGGTGATGATGATGG TGATGATGAGGATGGTGATGATGGTGATGATGATGGTGATGATGATGGTG ATGATGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGATGATGGTGATTATGATGATGATGATGATGGTGATGA TGATGGTGATGATGAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0143 a0002c0002t0007g0143	1	320	0.0031	965	c.937 others(980): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGATGGTGA TGATGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTG ATGATGAGGATGATGATGATGATGGTGATGATGGTGATGATGATGGTGAT GGTGATGATGACGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGA TGATGATGGTGATGATGATGATGGTGATGATGAGGATGATGATGGTGATG ATGATGGTGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGAG GATGATGATGGTGATGATGATGGTGATGATGATGGTGGTGATGATGATGG TGATGGTGATGATGGTGATGATGATGATGGTGATGATGATGATGGTGGTG ATGATGGTGATGATGGTGATGGTGATGATGGTGATGAGGATGATGATGAT GGTGATGATGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGA TGATGATGATGGTGATGGTGGTGATGATGGTGATGGTGATGGTGATGATG GTGATGATGATGATGGTGATGATGGTGATGATGATGGTGATGATGGTGAT GGTTATGATGGTGATGGTGATGATGAGGATGATGATGGTGATGGTGATGA TAAGGATGATGATGATGATGAGGATGATGATGGTGATGATGATGGTGATG ACGATGATGGTGATGATGATGGTGATGACGATGATGGTGATTGTGATGAT GGTGATGATGATGAGGATGGTGATGATGGTGATGGTGATGATGATGGTGA GGATGGTGATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGATG ATGGTGATGATGATGGTGATGATGATGATGGTGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGATGATGGTGATGATGATGGTGATTATGATGA TGATGATGATGGTGATGATGATGGTGATGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(958): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGATGC AGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAG ATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGG GGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAG TGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATA TGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCA GAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGT AGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGG GTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00323.hp2 HG00642.hp2	a0001 a0001	a0001c0011 a0001c0060 a0001c0011 a0001c0060	a0001c0011t0001 a0001c0060t0004 a0001c0011t0001 a0001c0060t0004	a0001c0011t0001g0191 a0001c0060t0004g0240 a0001c0011t0001g0191 a0001c0060t0004g0240	2	272	0.0074	965	c.109 others(984): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGATGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAG TATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATA ATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGT AGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACT TTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATAT GGGGGCGGGGCAGAGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGG GGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATA GATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
FMN2_chr1_240086883_240480187	240185119	C C	CCCCTTCT others(958): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0101 a0001c0017t0002g0101	1	174	0.0058	965	c.193 others(984): Show c.1931-3085_1931-3084insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT17_chr7_71127144_71718599	71680483	C C	CCTTCCTC others(958): Show CCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTGTCTTCCTCCCTCCCT CCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCT CTTCCTCCCTCCCTGTCTTCCTCCCTCCTTCTCTCCCTTCCTCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCGCTCTCTCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCTGCTCTCTCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTC CTCCCTCCCGCTCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	76	0.0132	965	c.150 others(984): Show c.1500+3192_1500+3193insCCTGTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCTCTCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTGTCTTCCT CCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCTCTCTCTTCCTCCCTCCCTGTCTTCCTCCCTCCTTCTCTCCCTTCCT CCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCGCTCTCTC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCTGCTCTCTC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCT CTCTCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GCAT_chr22_37802934_37821897	37817170	C C	CGAAATTA others(958): Show CGAAATTAGCCAGGCGTTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGACAGCCCCCCCGCCCAGCCAG CCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGTCCCTACTGG GAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGG GCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCC ATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAA AAAATTGAGAAATCGGATGGTTGCCGGGTCTCTGTGGATAGAAGTAGACA TGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGG GATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACAT GTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGC TTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCA CTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAGGC CGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTAT CTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTC TGCGAGAAACACCCAAGAATGATCAATTAAAAAAAAATTAATTAATTAAA AAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0062 a0003c0005t0002g0062	1	390	0.0026	965	c.45 others(974): Show c.452_*453insGAAATTAGCCAGGCGTTGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGACAGCCCC CCCGCCCAGCCAGCCGCCCTATCCAGGAGGTGAGGGGCGCCTCTGCCCGG CCGTCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGT CCGGGAGGGTGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATC CGGGAGGTGAGGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCA TTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGG GAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTCTGTGG ATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAAT TCTTCTGCCTTGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTG CTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCG GTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTA AGAGTCATCACCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGC GGAAGGCCAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTG TTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTG CCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATTAAAAAAAAA TTAATTAATTAAAAAAAAAAAAAAAAAAA	GCAT	ENSG00000100116.17	transcript	ENST00000248924.11	protein_coding		274		chr22	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(958): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATATTATATATTTTATATATAATATA TATATTATATATAATATATATTATATATAATATATATATTATATAAAATA TATAATATATATCTTATATATATCATATATTTTATATATATCATATATTT TATATATATCATATATTTTATATATAATATATATTATATATACATTATAT AATATATATTATATTATATATAATATATTATATAATATATATTATATATT ATACGTAATATATAATGTATATTATATATAATATACATTATATAATGTAT ATTATATATAATATACATTATATAATGTATATTATATATAATATACATTG TATACAATGTATATTATATATAATATACATTGTATACAATGTATATTACA TATAATATACATTATATAATGTATATTACATATAATATACATTGTATATA ATGTATATTACATATAATATACATTGTATATAATGTATATTACATATAAT ATACATTATATATAATGTGTATATTACATGTAATATACATTATATATAAT GTATATTATATGTAATATATACATTATATAATGTGTATATTATATGTAAT ATATACATTATATATAATGTATATATTATATGTAATATATACATTATATA TAATGTATATATTACATGTAATATATACATTATATATAATGTATATTATA TGTAATATATACATTATATATAATGTATATTATATGTAATATATACATTA TATATAATGTATATTATATGTAATATATACATTATATAATGTATACATTG TATATAATGTATATTA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18990.hp2 NA18980.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0236 a0001c0001t0001g0237	2	350	0.0057	965	c.94- others(978): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATATTATAT ATTTTATATATAATATATATATTATATATAATATATATTATATATAATAT ATATATTATATAAAATATATAATATATATCTTATATATATCATATATTTT ATATATATCATATATTTTATATATATCATATATTTTATATATAATATATA TTATATATACATTATATAATATATATTATATTATATATAATATATTATAT AATATATATTATATATTATACGTAATATATAATGTATATTATATATAATA TACATTATATAATGTATATTATATATAATATACATTATATAATGTATATT ATATATAATATACATTGTATACAATGTATATTATATATAATATACATTGT ATACAATGTATATTACATATAATATACATTATATAATGTATATTACATAT AATATACATTGTATATAATGTATATTACATATAATATACATTGTATATAA TGTATATTACATATAATATACATTATATATAATGTGTATATTACATGTAA TATACATTATATATAATGTATATTATATGTAATATATACATTATATAATG TGTATATTATATGTAATATATACATTATATATAATGTATATATTATATGT AATATATACATTATATATAATGTATATATTACATGTAATATATACATTAT ATATAATGTATATTATATGTAATATATACATTATATATAATGTATATTAT ATGTAATATATACATTATATATAATGTATATTATATGTAATATATACATT ATATAATGTATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(958): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0037 a0002c0003t0002g0037	1	296	0.0034	965	c.368 others(982): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGT AAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(958): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGT CCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCC TCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCT CTCCCTCTCTCCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTC TTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCC TCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCT CTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCT CTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCT TCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCC CCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCC TCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCT CCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCC CCTCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCTCCTCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0075 a0001c0001t0012g0075	1	276	0.0036	965	c.100 others(984): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCCTTTATCCCCTCCCCCTCCCCT TCCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCC TCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCC CATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCC CCATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCC CTCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCC CCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCC TCCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACT CTCCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCA CCCCTCCCCCTCCCCCTCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCTCCCCCTCTCCTCCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGGA others(958): Show GGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGC GGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGA GAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGA GAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAG GAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGA GGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAA AGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAG GGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGG AGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAG GCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGG AAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGG AGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGG AAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGG GGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGG AAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0038 a0038	a0038c0037 a0038c0037	a0038c0037t0001 a0038c0037t0001	a0038c0037t0001g0141 a0038c0037t0001g0141	1	280	0.0036	965	c.641 others(980): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCC CCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCT TTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTC CCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCT CCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCT CCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTT TCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(958): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGGGGGA GGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGG AGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAG GGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAG GGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGG GGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGG AGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGAGGGGAGTGGAGGG GGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGG AGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGG GAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0055 a0008c0012t0001g0055	1	272	0.0037	965	c.250 others(980): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCCTCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCTCCCATCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCC CTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCC CCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTT TCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(958): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGA GGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGAGG TGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGGGGGGAGGAGGGG AGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGG GGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGA GGGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGGAG GGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGGAGGGGGGGAGG GGGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGGGGAGG GAGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGAGGA GGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGAGGAGGGGG AGGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAGGGGA GGAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAG GGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGG AGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGG AGGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAG GGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGG AGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG01433.hp1 HG00099.hp2 HG01255.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0008t0001g0152 a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0008t0001g0152	3	208	0.0144	965	c.279 others(980): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCCC CCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCCC CCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCCTCCC CCTTCCTCCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCC CTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCCC CTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCT TCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NXN_chr17_794310_984776	841522	C C	CACCCTGA others(958): Show CACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCAC GGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCA CACCCGCGAGCAGGTCCTCCCGACCACAGCGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCGA CCACAGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCAT CTCACACCCGCGAGCAGGTCCTCCCGACCACGGCGCATCTCACACGGGCG AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCC CGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCATGGCA CATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGT CCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ATGGCACATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACGGGCGAGCAGGTCCCCCCTGACCACGGTGCATCTCACACGGGCGA GCAGGTCCCCCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCC CGACCACAGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACACCCGCGAGCAGGTCCCCCCGACCACAGCGCATCTCACACGG GCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTC CTCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACG GCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACA CGGGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	242	0.0041	965	c.361 others(984): Show c.361-15445_361-15444insTGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGG GGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGAGGACCTGCTCG CGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCTGTGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCGGGAGGACCTG CTCGCGGGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTGT GAGATGCACCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGTGCCATGGTCAGGGTG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGTGCCATGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTG CCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTG AGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTG GTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCGGGGGGAC CTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCG TGTGAGATGCGCTGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGC TGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGA GGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(958): Show TGGGGAGAGAAGGGGAGGGAGAAGGGGATGGGGAGAGAAGGGGATGGGGA GAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGA GAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGG GAGAGAAGGGGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGGGAGAGGGG GAGGGGGAGAGAGGGGGAGAGAAAGGGAGGGGGAGAGAGGGGGAGAGGGG GAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAG GGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGG AGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGGGAGAGGAGGGGGAGGAGG GGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGGAGG GGGAGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGGG GGAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAATGGGAAGGGGC AAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGA GAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGA GAGGGTGGGCAAGAGAGAGAGGGCAAGGGCGAGAGAGAGAGAGGGCGGGC GAGAGAGGGCGGGCGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGG GCGGGCAAGAGAGAGAGAGAGAGGGCGGTCAAGAGAGAGAGAGAGGGCGG GCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGA GGGAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0233 a0003c0004t0001g0233	1	308	0.0033	965	c.371 others(982): Show c.3718+654_3718+655insTTTCTCTCCCTCTCCCTCTCGCCCTCTC CCTCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTC TCTCTCTTGACCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCGCCCGCCCTCTCTCGCCCGCCCTCTC TCTCTCTCGCCCTTGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGC CCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTC GCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCAT TTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCT CCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCTCC TCCCCCTCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCT CCTCTCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCCTCCCC CTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCC TCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCC TCTCTCCCCCTCCCTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCCCCC CCTCTCCCCCTCCCCTTCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCC CCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTC CCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCT TCTCTCCCCATCCCCTTCTCCCTCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(958): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAG GGGGGGAGGGGGAGAGGGGGAGGAGGGGGGAGGGGGAGAGGGGGAGAGGG GGAGGAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGA GGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAG GAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGA GAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGG GCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGG GTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGA GAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGA GGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGC GGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGA GAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGAGA GAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0048 a0015c0015t0001g0048	1	308	0.0033	965	c.371 others(982): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCTC TCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCAC CTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCC CTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCT CTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCT CTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCT CTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTC TCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTC TCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PRKAG2_chr7_151551127_151882115	151855497	A A	ACCCTCTA others(958): Show ACCCTCTACCACCCTCCACACACCACCATCCACACACACCACGCTCCACA CACACCGCCCTCCACACACACCATCCTCCACACACACCATCCTCCACACA CACCACCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCATCCTCCACACACCACCCTCCACACACCACCC TCCACACACACCATCCACACACCACCCTCCACACACACCATGCTCCACAC ACACCGCCCTCCACACACACCATCCTCCACACACACCATGCTCCACACAC CACCCTCCACACACCACCCTCTACCACCCTCCACACACCACCATCCACAC ACACCACGCTCCACACACACCGCCCTCCACACACACCATCCTCCACACAC ACCACCCTCCACACACACCACCCTCCACACACACCGCCCTCCACACACAC CGCCCTCCACACACACCGCCCTCCACACACACCATCCTCCACACACACCA CCCTCCACACACACCACCCTCCACACACACCACCCTCCACACACACCACG CTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCT CCACACACACCACCCTCCACACACACCACCCTCCACACACACCACCCTCC ACACACCACCCTCCACACACACCACCCTCCACACACCGCCCTCCACACAC ACCACCCTCCACACACCGCCCTCCACACACACCATGCTCCACACACACCG CCCTCCACACACACCGCCCTCCACACACACCATCCTCCACACACACCACC CTCCACACACCACCCTCCACACACACCGCCCTCCACACACCGCCCTCCAC ACACACCACTTTACACACACGCCACCCTCCACACACCACCCTACACACAC ACCACCCTCCACACACGCCACCCTCCACACACGCCACCCTCCACACACCG CCCTCCACACACACCG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	252	0.0040	965	c.114 others(984): Show c.114+21009_114+21010insCGGTGTGTGTGGAGGGCGGTGTGTGG AGGGTGGCGTGTGTGGAGGGTGGCGTGTGTGGAGGGTGGTGTGTGTGTAG GGTGGTGTGTGGAGGGTGGCGTGTGTGTAAAGTGGTGTGTGTGGAGGGCG GTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGT GTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGT GGAGCATGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTGGAG GGCGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGT GTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGT GTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGT GGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGG AGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAG GATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGG TGGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAG CATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCA TGGTGTGTGTGGAGGGTGGTGTGTGGATGGTGTGTGTGGAGGGTGGTGTG TGGAGGGTGGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGA GGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG ATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGT GGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151855497	A A	ACCCTCTA others(958): Show ACCCTCTACCACCCTCCACACACCACCATCCACACACACCACGCTCCACA CACACCGCCCTCCACACACACCATCCTCCACACACACCATCCTCCACACA CACCACCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACA CCGCCCTCCACACACACCATCCTCCACACACCACCCTCCACACACCACCC TCCACACACACCATCCACACACCACCCTCCACACACACCATGCTCCACAC ACACCGCCCTCCACACACACCATCCTCCACACACACCATGCTCCACACAC CACCCTCCACACACCACCCTCTACCACCCTCCACACACCACCATCCACAC ACACCACGCTCCACACACACCGCCCTCCACACACACCATCCTCCACACAC ACCACCCTCCACACACACCACCCTCCACACACACCGCCCTCCACACACAC CGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACACCA CCCTCCACACACACCACCCTCCACACACACCACCCTCCACACACACCACG CTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCT CCACACACACCACCCTCCACACACACCACCCTCCACACACACCACCCTCC ACACACCACCCTCCACACACACCACCCTCCACACACCGCCCTCCACACAC ACCACCCTCCACACACCGCCCTCCACACACACCATGCTCCACACACACCG CCCTCCACACACACCGCCCTCCACACACACCATCCTCCACACACACCACC CTCCACACACCACCCTCCACACACACCGCCCTCCACACACCGCCCTCCAC ACACACCACTTTACACACACGCCACCCTCCACACACCACCCTACACACAC ACCACCCTCCACACACGCCACCCTCCACACACCGCCCTCCACACACACCG CCCTCCACACACACCG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	252	0.0040	965	c.114 others(984): Show c.114+21009_114+21010insCGGTGTGTGTGGAGGGCGGTGTGTGT GGAGGGCGGTGTGTGGAGGGTGGCGTGTGTGGAGGGTGGTGTGTGTGTAG GGTGGTGTGTGGAGGGTGGCGTGTGTGTAAAGTGGTGTGTGTGGAGGGCG GTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGT GTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGT GGAGCATGGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTGGAG GGCGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGT GTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGT GTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGT GTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGT GGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGG AGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAG GATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGG TGGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAG CATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCA TGGTGTGTGTGGAGGGTGGTGTGTGGATGGTGTGTGTGGAGGGTGGTGTG TGGAGGGTGGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGA GGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGG ATGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGT GGTGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
RAB11FIP3_chr16_420649_528011	492393	T T	TTCCCGGG others(958): Show TTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGC CGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGAGACCCGAGGCCGCCC AGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGAGCCCCCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGG AGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGA GCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGA GGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCC CGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTTCCCGGGAGAGACCCGAGGCCGTCCAGGGG CCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAG GCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCC GGGAGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGC CCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACCCG AGGCCGCCCAGGGCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	295	0.0034	965	c.126 others(984): Show c.1265+3393_1265+3394insTCCCGGGAGACCCGAGGCCGTCCAGA GCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCG AGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGAGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCCCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGG GCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCG AGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCC CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGTC CAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCC TCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCC GCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGG AGAGACCCGAGGCCGTCCAGGGGCCTTCCCGGGAGACCCGAGGCCGCCCA GAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGAGAGACCCGAGGCCGCCCAGAGCC CTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGG CCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCG GGAGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RIN3_chr14_92508781_92693994	92547360	A A	AAATAAAT others(958): Show AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATTATCTTTATTTTATTATAAAATAATCTTTATTTTA TTATAAAATAATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAA AATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTAT CTTTATTTTATTATTATAAAATTATCTTTATTATAATAAAATAAATTATC TTTATTTTATTATTAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0265 a0006c0005t0001g0265	1	334	0.0030	965	c.45- others(980): Show c.45-8364_45-8363insAAAATAAATTATCTTTATTTTATTATTATA AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATTATCTTTATTTTATTATAAAATAATCTTTATTTTATTATAAAA TAATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCT TTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTT TATTATTATAAAATTATCTTTATTATAATAAAATAAATTATCTTTATTTT ATTATTATAATAAATTATCTTTATTTTATTATTAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547360	A A	AAATAAAT others(958): Show AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTAAAATAAATTATCTTTATTTTATT ATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATTATCTTTATTTTATTATAAAATAATCTTTATTTTA TTATAAAATAATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAA AATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTAT CTTTATTTTATTATTATAAAATTATCTTTATTATAATAAAATAAATTATC TTTATTTTATTATTAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	334	0.0030	965	c.45- others(980): Show c.45-8364_45-8363insAAAATAAATTATCTTTATTTTATTATTATA AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTAT CTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATT ATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAA TTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTAAAATAAATTATCTTTATTTTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAA AATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAT AAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATT ATAAAATTATCTTTATTTTATTATAAAATAATCTTTATTTTATTATAAAA TAATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCT TTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTT TATTATTATAAAATTATCTTTATTATAATAAAATAAATTATCTTTATTTT ATTATTATAATAAATTATCTTTATTTTATTATTAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTACATTA others(958): Show TTACATTATATTATGGATAATATAATATATTACATTATATTATGGATAAT ATAATATATTACATTATATTATGGATAATATAATATATTATATTATATTA TGGATAATATAATATATTATATTATATTATGGATAATATAATATATTATA TTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATAATATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATCTAATATATTATATTATA TTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATATT ATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAATAT ATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	160	0.0063	965	c.389 others(986): Show c.389-154470_389-154469insCATTATATTATGGATAATATAATA TATTACATTATATTATGGATAATATAATATATTACATTATATTATGGATA ATATAATATATTATATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATAATATATTATATTATGGATAATATAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATCTAATATATTATATTA TATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATA TTATATTATGGATAATCTAATATATTATATTATGGATAATCTAATATATT ATATTATGGATAATCTAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(958): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA GAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0023 a0002c0006t0023	a0002c0006t0023g0123 a0002c0006t0023g0123	1	314	0.0032	965	c.916 others(982): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTC TCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCT ATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTT CTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTG CTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTC CTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTT CCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCC TCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTT CTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCT CCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTC TCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCC TTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTT CCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTC CTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(958): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA GAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAG GAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGA GGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAG AAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAG GAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAG GAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAG GAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGA GGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA GAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0113 a0001c0002t0051g0113	1	314	0.0032	965	c.916 others(982): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTC TCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCT ATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTC CTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTT TTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTT CCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCT CTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCT GCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTT CTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCT CCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTGTTCCTCCTTC TCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTCTTCCTCCTCC TTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCTCCTCCTCCTT CCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCTCCTCCTCCTC CTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar

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