Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PAX1_chr20_21700664_21723481	21721630	T T	TTACATAT others(457): Show TTACATATATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATGTATTACATATATAACATATATGTATTACATAT ATAACATATATGTATTACATATATGTATTACATATATAACATATATGTAT TACATATATGTATTACATATATAACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	400	0.0025	464	c.70 others(475): Show c.7068_*7069insTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATAACATATATGTATTACATATATGTATTACATAT ATAACATATATGTATTACATATATGTATTACATATATAACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAA		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3150		chr20	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(457): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTC CTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA AGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCCACCTCCCT CCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0011 a0003c0010t0011	a0003c0010t0011g0086 a0003c0010t0011g0086	1	166	0.0060	464	c.633 others(481): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGTCGGGCGGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGCTGGCCGGG CAGGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGACGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCCGACACCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37					INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063964	C C	CCCCCCCA others(457): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGG GTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGG CAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02559.hp2 HG02109.hp1 HG02280.hp1 HG02559.hp2	a0002 a0006 a0002 a0006	a0002c0009 a0002c0047 a0006c0012 a0002c0009 a0002c0047 a0006c0012	a0002c0009t0038 a0002c0047t0045 a0006c0012t0046 a0002c0009t0038 a0002c0047t0045 a0006c0012t0046	a0002c0009t0038g0070 a0002c0047t0045g0123 a0006c0012t0046g0161 a0002c0009t0038g0070 a0002c0047t0045g0123 a0006c0012t0046g0161	3	166	0.0181	464	c.633 others(481): Show c.633-3986_633-3985insCACCTCCCTCCCGGACGGGGCGGCTGGT CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGACGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCTCTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCC		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37					INFO_REALIGN_3_PRIME	chr9	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TAGCCTGT others(457): Show TAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTG GCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATG TGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTG TGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0118 a0002c0001t0001g0118	1	408	0.0025	464	c.-10 others(481): Show c.-10+1012_-10+1013insAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAG CCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10						chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TAGCCTGT others(457): Show TAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTG GCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATG TGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTG TGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0120 a0002c0001t0005g0120	1	408	0.0025	464	c.-10 others(481): Show c.-10+1012_-10+1013insAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAG CCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10						chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTCTG others(457): Show TGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGCCTAGCCTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTG TCTGGCTAGCCTGGTGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp1 HG01884.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0180 a0001c0002t0006g0181 a0001c0002t0006g0180 a0001c0002t0006g0181	2	408	0.0049	464	c.-10 others(481): Show c.-10+1012_-10+1013insGTGTCTGCCTAGCCTGTGTGTGTGTGTC TGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGT ATATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10						chr16	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(457): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19054.hp2 NA19007.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0063 a0001c0001t0001g0064	2	216	0.0093	464	c.106 others(481): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCATCACCTCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTTCCT others(457): Show CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	250	0.0040	464	c.309 others(483): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTGCCTGCCTTCCTCCCT		PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
PLXNA4_chr7_132118340_132581470	132189032	G G	GGAAAGGA others(457): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAG GAAAGGAAAGGAAAGGAAGGAAAGGAAAGGAAAAGGAAAGGAAAGAAAGG AAAGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAAGGAAAGGAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	88	0.0114	464	c.285 others(483): Show c.2857-1426_2857-1425insTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCTTTCC TTTCCTTTTCCTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31						chr7	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(457): Show AGGGGGATGTGGGAGATGAGGGGGACGGGGGGGACGGGGGGGACGCGGGG GACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGC GGGGGACGCGGGGGACGGGGGGGGACGGGGGACGCGGGGGACGGGGGGGC GGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGG GGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACG GGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGG GACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGC GGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGG ACGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGG GGGACGGGGGGACGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0018 a0018	a0018c0036 a0018c0036	a0018c0036t0001 a0018c0036t0001	a0018c0036t0001g0051 a0018c0036t0001g0051	1	188	0.0053	464	c.147 others(481): Show c.1474-959_1474-958insCCGTCCCCCCGTCCCCCGCGTCCCCCGC GTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCGTCCCCCGCGTCCCC CCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGT CCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTC CCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCG CGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCCCCCCCGTCCC CCGCGTCCCCCGTCCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCGCGT CCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCTCATCTCCCACATCCCCC		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34						chr9	TogoVar
POLG_chr15_89311320_89339824	89325275	A A	AGAGTGAG others(457): Show AGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGAGTGAGTGAG TGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAG TGAGTGTGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0057 a0006c0009t0001g0057	1	398	0.0025	464	c.194 others(481): Show c.1949+174_1949+175insACTCACTCACACTCACTCACTCACTCTC TCACTCACTCTCTCACTCACTCTCACTCACTCACTCACTCACTCACTCTC TCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCTCACTC ACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCAC TCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTC ACTCTCTCACTCACTCACTCTCACTCACTCACTCACTCACTCTCTCACTC ACTCACTCTCTCACTCACTCACTCACTCACTCACTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
POLG_chr15_89311320_89339824	89325275	A A	AGAGTGAG others(457): Show AGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGTGAG AGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGAGTGAGTGAGTGAG TGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGAGTGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0058 a0006c0009t0001g0058	1	398	0.0025	464	c.194 others(481): Show c.1949+174_1949+175insACTCACTCACTCTCACTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCTCACTCACTCACTCACTCACTCAC TCTCTCTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCTCACTC ACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTC TCTCACTCACTCACTCTCACTCACTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCACTCACTCACTCACTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(457): Show CCTCCCACACCATATACCCCTCCCACACCATACACTCCTCCTATGCCTCC CATGCCATACAAGCCCTCCTGTGCCATACACACCCCTCCCACGCCATACA CCCCCCTCCCACGCCTCCCACACCATACACCCCTCCCACACCATACACCC CTCCCACGCCTCCCACACCATACAAGCCCTCCCGTGCCATACACCCCTCC CACAGCATATAACCCCTCCCACGCCCATAAAACCCCTCTCACACCATACA CCCCCCTCCCACACCTCCCACGCCATACAACCCCTCTCACACCATACACC GCTCCCATGCCATACACCCCTCCCACGCCTCCCACGCCATACAACCCTCC CATGACATACAGCCCCTCCTACGCCATACAACCCCTCCTGTGCCATACAC CCCTCCCACGTCATACACCCCCTCCCACGTCATACATCCCCTCCCATGCC TCCCACACCATACAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	448	0.0022	464	c.449 others(479): Show c.449-400_449-399insTTGTATGGTGTGGGAGGCATGGGAGGGGAT GTATGACGTGGGAGGGGGTGTATGACGTGGGAGGGGTGTATGGCACAGGA GGGGTTGTATGGCGTAGGAGGGGCTGTATGTCATGGGAGGGTTGTATGGC GTGGGAGGCGTGGGAGGGGTGTATGGCATGGGAGCGGTGTATGGTGTGAG AGGGGTTGTATGGCGTGGGAGGTGTGGGAGGGGGGTGTATGGTGTGAGAG GGGTTTTATGGGCGTGGGAGGGGTTATATGCTGTGGGAGGGGTGTATGGC ACGGGAGGGCTTGTATGGTGTGGGAGGCGTGGGAGGGGTGTATGGTGTGG GAGGGGTGTATGGTGTGGGAGGCGTGGGAGGGGGGTGTATGGCGTGGGAG GGGTGTGTATGGCACAGGAGGGCTTGTATGGCATGGGAGGCATAGGAGGA GTGTATGGTGTGGGAGGGGTATATGGTGTGGGAG		RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6						chr22	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(457): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	304	0.0033	464	c.66+ others(479): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(457): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG01433.hp2 others(2): Show HG01069.hp1 HG01175.hp2 HG01433.hp2 HG01517.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036	5	304	0.0165	464	c.66+ others(479): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAA		RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
RFLNA_chr12_124290093_124321024	124320025	G G	GGATGACA others(457): Show GGATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGG CGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTT TGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTC TTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACA TCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGG ATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCTCTTTCTTTGGGGGTG GGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGGGG TAGGTGGGATGACATCTTTGGGGGCAGGTGGGATGACCTCTTTCTTTGGG GGCGGGTGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCTCTTTG TTTGCGGGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0185 a0001c0002t0003g0185	1	388	0.0026	464	c.55 others(475): Show c.5500_*5501insGATGACATCTTTCTTTGGGGGCAGGTGGGATGAC CTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGG GATGACCTCTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGT GGGATGACCTCTTTCTTTGGGGGCAGGTGGGATGACATCTTTCTTTGGGG GCAGGTGGGATGACATCTTTCTTTGGGGGCAGGTGGGATGACCTCTTTCT TTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGGAGGTGGGATGACCT CTTTCTTTGGGGGTGGGTGGGATGACATCTTTGGGGGCAGGTGGGATGAC CTCTTTCTTTGGGGGTAGGTGGGATGACATCTTTGGGGGCAGGTGGGATG ACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTTGGGGGTAAGT GGGATGACCTCTTTGTTTGCGGGTAGGTGA		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding					4002		chr12	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(457): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18747.hp2 HG00609.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0272 a0001c0001t0001g0128 a0001c0001t0001g0272	2	334	0.0060	464	c.45- others(479): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATT		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(457): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	334	0.0030	464	c.45- others(479): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATT		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(457): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAAT AAATTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0233 a0003c0003t0002g0233	1	334	0.0030	464	c.45- others(479): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATT		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF17_chr13_24759169_24884921	24881852	C C	CTATATAG others(457): Show CTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATAT AGATATATAATCTATATAGATATATAATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	426	0.0024	464	c.21 others(475): Show c.2126_*2127insTATATAGATATATAGATGCATCTATATAGATATA TAGATGCATCTATATAGATATATAATCTATATAGATATATAATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTA		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding					1932		chr13	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(457): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTATAATATATATCTATAATATATATATTATATCTAT AATATATAATATATCTATAATATATATATTATATCTATAATATATAATAT ATCTATAATATATATATTATATCTATAATATATAATATATATATAATATA TAATATATCTATAATATATAATATATCTATAATATATAATATATCTATAA TATATATATTATATATATAATATATAATATATTATATATATAATATATAA TATATTATATATATAATATATAATATATTATATCTATAATATATTATATG TAATATATATGTTATATCTATAATATATATTATATCTATAATATATTATA TATTATATCTATAATATATAATATATTATATCTATAATATATAATATATT ATATCTATAAATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	172	0.0058	464	c.242 others(481): Show c.242-4111_242-4110insTATATTTATAGATATAATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATAATATATTAT AGATATAATATATATTATAGATATAACATATATATTACATATAATATATT ATAGATATAATATATTATATATTATATATATAATATATTATATATTATAT ATATAATATATTATATATTATATATATAATATATATATTATAGATATATT ATATATTATAGATATATTATATATTATAGATATATTATATATTATATATA TATTATATATTATAGATATAATATATATATTATAGATATATTATATATTA TAGATATAATATATATATTATAGATATATTATATATTATAGATATAATAT ATATATTATAGATATATATTATAGATATAATATATATATTATAGATATAT TATATATTATAGATATAATATATATATTATAGATAT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTAAT others(457): Show GTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACATACATATTTATACATATATGTATACATACATATTTATACATATATAT GTATAAATACATACATATTTATACATATATATGTATAAATACATACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACGTACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATGTATAAATACGTACATATTTATACATATATGTATAAATACATATAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	232	0.0043	464	c.43 others(475): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATAAATATGTATATGTATTTATACATA TATGTATAAATATGTACGTATTTATACATATATGTATAAATATGTACGTA TTTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTA TAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTA TACATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAA TATGTACGTATTTATACATATATATGTATAAATATGTATGTATTTATACA TATATATGTATAAATATGTATGTATTTATACATATATATGTATAAATATG TATGTATACATATATGTATAAATATGTATGTATTTATACATATATGTATT AATACGTATTTATACATATATGTATTAATA		SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding					4237		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	C C	CCGTGTCT others(457): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCATGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	290	0.0035	464	c.166 others(481): Show c.1663-485_1663-484insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCATGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SHC2_chr19_411589_466033	431544	C C	CAGATAGA others(457): Show CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGG AGACCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCAGGCAGATA GATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCG GGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGA GGAGGCCAGGCAGAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0014 a0005c0009t0014	a0005c0009t0014g0040 a0005c0009t0014g0040	1	212	0.0047	464	c.111 others(481): Show c.1111-798_1111-797insATCTGCCTGGCCTCCTCTATCTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAT CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCC TCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCT GCCCGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCC ATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAG CGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCA CGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCTATCTGCCCGGTCTCCTCTAACTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTATCT		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12						chr19	TogoVar
SLC44A5_chr1_75197129_75616114	75280434	T T	TTATATAT others(457): Show TTATATATTGTATATATAATATATATATTGTATATATTATATATTGTATA TATAATATATATAGTATATATTATATATTGTATATATAATATATATAGTA TATATTATATATTGTATATATAATATATATATTGTATATATTATATATTG TATATATAATATATATATTGTATATATTATATATTGTATATATAATATAT ATATTGTATATATTATATATTGTATATATAATATATATATTGTATATATT ATATATTGTATATATAATATATATATTGTATATATTATATATTGTATATA TAATATATATATTGTATATATTATATATTGTATATATAATATATATATTG TATATATTATATATTGTATATATAATATATATATTGTATATATTATATAT ACAATATATAATATATATATTGTATATATTATATATTGTATATATAATAT ATATATTGTATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	156	0.0064	464	c.176 others(481): Show c.176-5393_176-5392insTTATATACAATATATATATTATATATAC AATATATAATATATACAATATATATATTATATATTGTATATATAATATAT ACAATATATATATTATATATACAATATATAATATATACAATATATATATT ATATATACAATATATAATATATACAATATATATATTATATATACAATATA TAATATATACAATATATATATTATATATACAATATATAATATATACAATA TATATATTATATATACAATATATAATATATACAATATATATATTATATAT ACAATATATAATATATACAATATATATATTATATATACAATATATAATAT ATACAATATATATATTATATATACAATATATAATATATACTATATATATT ATATATACAATATATAATATATACTATATATATTATATATACAATATATA ATATATACAATATATATATTATATATACAATATATA		SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23						chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322304	A A	ATGGGCGG others(457): Show ATGGGCGGGTGGGTGGATGGATGAGTGGGTGAGTGGATGGATGCATGGAT GGATGGGTGGGTGGGTGGATGGATGAGTGGGTGGATGGATGGGTGGATGG ATGGATGGGTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGATGAGT GGGTGAGTGGATGGATGCATGGATGGATGGGTGGGTGGGTGAATGGATGG ATGAGTGGGTGGATGGATGGGTGGATGAATGGGTGGGTGGGTGCGTGGGT GGGTGGATGGATGGATGGGTGGATGGATGCATGGGTGGGTGGATGTATGG GTGGATGGATGCGTGGGTGGGTGGATGGATGGGTGGATGGGTGGATGGAT GGATGGATAGATGGGTGTGTGGATGGATGGATGAGTGGGTGGATGGATGG GTGGATGGATGGGTAGGTGGGTGGATGGATGGGTGGATGAGTGGATGGAT GGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	388	0.0026	464	c.-24 others(481): Show c.-24-1999_-24-1998insGCGGGTGGGTGGATGGATGAGTGGGTGA GTGGATGGATGCATGGATGGATGGGTGGGTGGGTGGATGGATGAGTGGGT GGATGGATGGGTGGATGGATGGATGGGTGGGTGGGTGCGTGGGTGGGTGG ATGGATGGATGGATGAGTGGGTGAGTGGATGGATGCATGGATGGATGGGT GGGTGGGTGAATGGATGGATGAGTGGGTGGATGGATGGGTGGATGAATGG GTGGGTGGGTGCGTGGGTGGGTGGATGGATGGATGGGTGGATGGATGCAT GGGTGGGTGGATGTATGGGTGGATGGATGCGTGGGTGGGTGGATGGATGG GTGGATGGGTGGATGGATGGATGGATAGATGGGTGTGTGGATGGATGGAT GAGTGGGTGGATGGATGGGTGGATGGATGGGTAGGTGGGTGGATGGATGG GTGGATGAGTGGATGGATGGATGGATAGATGGGTGG		SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX9_chr6_157818246_157950077	157827184	A A	ATAGTTTA others(457): Show ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TATATATTGTAGTTTATATAATATATAAATATATATTGTAGTTTATATAA TATATAAATATATATTGTAGTTTATATAATATATAAATATATATTGTAGT TTATATAATATATAAATATATATTGTAGTTTATATAATATATAAATATAT ATTGTAGTTTATATAATATATAAATATATATTGTAGTTTATATAATATAT AAATATATATTGTAGTTTATATAATATATAAATATATATTGTAGTTTATA TAATATATAAATATATATTGTAGTTTATATAATATATAAATATATATTGT AGTTTATATAATATATAAATATATATTGTAGTTTATATAATATATAAATA TATATTGTAGTTTATATAATATATAAATATATATTGTAGTTTATATAATA TATAAATATATATTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0060 a0001c0001t0011g0060	1	302	0.0033	464	c.12+ others(479): Show c.12+3758_12+3759insTATATATTATAGTTTATATAATATATAAAT ATATATTGTAGTTTATATAATATATAAATATATATTGTAGTTTATATAAT ATATAAATATATATTGTAGTTTATATAATATATAAATATATATTGTAGTT TATATAATATATAAATATATATTGTAGTTTATATAATATATAAATATATA TTGTAGTTTATATAATATATAAATATATATTGTAGTTTATATAATATATA AATATATATTGTAGTTTATATAATATATAAATATATATTGTAGTTTATAT AATATATAAATATATATTGTAGTTTATATAATATATAAATATATATTGTA GTTTATATAATATATAAATATATATTGTAGTTTATATAATATATAAATAT ATATTGTAGTTTATATAATATATAAATATATATTGTAGTTTATATAATAT ATAAATATATATTGTAGTTTATATAATATATAAA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(457): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATA TAACATATGATATATAATATATATCATATAACATATGATATATAATATTT ATCATATAACATATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0251	1	356	0.0028	464	c.-11 others(485): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATATAACATATGATATATAATATATATCATA TAACATATGATATATAATATTTATCATATAACATATGATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPNS3_chr17_4428940_4493204	4462494	C C	CACCCACC others(457): Show CACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCATCCATCCA CCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATCCATCCACC CACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCATCCACCCA CCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAATCTATCCA TCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATCCATCCATC CACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAATCCATCCA CCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCACCCACC AATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCACCAG TCTATCAATCCATCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0142 a0003c0005t0001g0142	1	362	0.0028	464	c.111 others(483): Show c.1113+9290_1113+9291insCCCACCCACCAGTCCATCCACCCACC AATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCACCAATCCA TCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATCCACCAATC CATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCATCCACCCA CCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCTACCCACC CATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCATCCATCCA CCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATCCATCCATC CATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCATCCATCCA CCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACCCACCCACC CACCCACCCATCCATCCACCAGTCTATCAATCCATCTA		SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462498	C C	CACCCACC others(457): Show CACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCATCCATCCA CCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATCCATCCACC CACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCACCCACCCA CCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAATCCATCCA TCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATCCATCCATC CACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAATCCATCCA CCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCACCCACC AATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCACCAG TCTATCAATCCATCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0011 a0011	a0011c0042 a0011c0042	a0011c0042t0003 a0011c0042t0003	a0011c0042t0003g0314 a0011c0042t0003g0314	1	362	0.0028	464	c.111 others(483): Show c.1113+9294_1113+9295insCCCACCCACCAGTCCATCCACCCACC AATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCACCAATCCA TCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATCCACCAATC CATCCATCCATCCACCCACCCACCCACCCACCAATCCATCCATCCACCCA CCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCTACCCACC CATCCATCCACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA CCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATCCATCCATC CATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCATCCATCCA CCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACCCACCCACC CACCCACCCATCCATCCACCAGTCTATCAATCCATCTA		SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46859244	C C	CGTGCCCC others(457): Show CGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCACAG TGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGC AGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCG CAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGC GCAGTGCTGTGCCCCTTCCTGGGACCAGAATCCTTTTTTGATAGAGGTCC GCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGT CCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGG TCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGA GGTCCGCACAGTGCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp2 HG02486.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0002c0003t0009 a0001c0001t0005 a0002c0003t0009	a0001c0001t0005g0002 a0002c0003t0009g0034 a0001c0001t0005g0002 a0002c0003t0009g0034	2	112	0.0179	464	c.638 others(483): Show c.638-19380_638-19379insCCATAGAGGTCCGCGCAGTGCCGTGC CCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCACAGTGCTGT GCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCT GTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGC TGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTG CTGTGCCCCTTCCTGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAG TGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGC AGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCG CAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCG CACAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTT		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TECTA_chr11_121096243_121196490	121193174	T T	TAGATTGA others(457): Show TAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAGGAAGTAGACA TGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCCTCTGCCTTGG GATCCTGTTGATCTGTGACCTTACCCCCAACCCGGTGCTCTCTGAAACAT GTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGC TTTGTTAAACAGATGCTTGAAGGCAGCATGCTCCTTAAGAGTCATCACCA CTCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGG GTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTG ACCTTCCCTCCACTATTGTCCCATGACCCTGCCATATCCTCCTCTGTGAG AAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	348	0.0029	464	c.23 others(475): Show c.2368_*2369insAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGT AGAAGGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAA ATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCGG TGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGG CGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCCT TAAGAGTCATCACCACTCCCTAATCTCAAGTAATCAGGGACACAAACACT GCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCA CTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAT ATCCTCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding					1685		chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747993	T T	TGGGAGGC others(457): Show TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0103 a0002c0002t0004g0103	1	314	0.0032	464	c.189 others(479): Show c.189-326_189-325insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC		TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS13_chr11_117895641_117934402	117926048	G G	GCACACCT others(457): Show GCACACCTGCAGGGGCATAGGGCAGGTGCCAGGGTCCTTGGAGGACGAGG TGAGGGATGCACACCTGCAGAGGCATAGGGCAGGTGCCAGGGTCCTTGGA GGACGAGGTGAGGGCTACACACCTGCAGGGGCATAGGGCAGGTGCCAGGG TCCTTGGAGGACGAGGTGAGGGATGCACACCTGCAGGGGCATAGGGCAGG TGCCAGGGTCCTTGGAGGACGAGGTGAGGGATGCACACCTGCAGAGGCAT AGGGCAGGTGCCAGGGTCCTTGGAGGACGAGGTGAGGGCTACACACCTGC AGGGGCATAGGGCAGGTGCCAGGGTCCTTGGAGGACGAGGTGAGGGATGC ACACCTGCAGGGGCATAGGGCAGGTGCCAGGGTCCTTGGAGGACGAGGTG AGGGATGCACACCTGCAGAGGCATAGGGCAGGTGCCAGGGTCCTTGGAGG ACGAGGTGAGGGCTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp1 NA18522.hp1 others(1): Show HG02258.hp1 HG02896.hp1 NA18522.hp1 NA18906.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0046 a0001c0001 a0011c0046	a0001c0001t0002 a0001c0001t0051 a0011c0046t0052 a0001c0001t0002 a0001c0001t0051 a0011c0046t0052	a0001c0001t0002g0015 a0001c0001t0051g0102 a0011c0046t0052g0098 a0001c0001t0002g0015 a0001c0001t0051g0102 a0011c0046t0052g0098	4	462	0.0087	464	c.21+ others(479): Show c.21+3238_21+3239insTAGCCCTCACCTCGTCCTCCAAGGACCCTG GCACCTGCCCTATGCCTCTGCAGGTGTGCATCCCTCACCTCGTCCTCCAA GGACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTGCATCCCTCACCTCG TCCTCCAAGGACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTGTAGCCC TCACCTCGTCCTCCAAGGACCCTGGCACCTGCCCTATGCCTCTGCAGGTG TGCATCCCTCACCTCGTCCTCCAAGGACCCTGGCACCTGCCCTATGCCCC TGCAGGTGTGCATCCCTCACCTCGTCCTCCAAGGACCCTGGCACCTGCCC TATGCCCCTGCAGGTGTGTAGCCCTCACCTCGTCCTCCAAGGACCCTGGC ACCTGCCCTATGCCTCTGCAGGTGTGCATCCCTCACCTCGTCCTCCAAGG ACCCTGGCACCTGCCCTATGCCCCTGCAGGTGTG		TMPRSS13	ENSG00000137747.16	transcript	ENST00000524993.6	protein_coding	1/12						chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1294476	C C	CCCGCGTG others(457): Show CCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCC GCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCA TGGCTCAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGGCTC ACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACA GTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTG TGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGT CTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTC CTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTCCTT TCCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTTTCCCT GCATTTCTACGAAAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	348	0.0029	464	c.183 others(481): Show c.183+1168_183+1169insCTTTCGTAGAAATGCAGGGAAAGGAGAC ACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACT GTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTG AGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGC CACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCAC GCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCG GGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGCT TTCGTAGAAATGCAGGGAAAGGAGACACACTGAGCCATGCGGGCTTTCGT AGAAATGCAGGGAAAGGAGACACACTGTGAGCCACGCGGGCTTTCGTAGA AATGCAGGGAAAGGAGACACACTGTGAGCCACGCGG		TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5						chr11	TogoVar
TPCN2_chr11_69043932_69095597	69077105	T T	TTGCCCTC others(457): Show TTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTCC TGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTC TGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCT GCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCT GCCCTCCTGCCATGTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCACCT GCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCC CTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTTG CCACGTCCCTCCACC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(73): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02572.hp1 HG02698.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp1 NA18950.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18991.hp2 NA18999.hp2 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0013 a0019 others(4): Show a0002 a0013 a0019 a0022 a0023 a0024 a0026	a0002c0002 a0002c0018 a0002c0019 others(7): Show a0002c0002 a0002c0018 a0002c0019 a0002c0040 a0013c0020 a0019c0027 a0022c0044 a0023c0033 a0024c0024 a0026c0039	a0002c0002t0001 a0002c0002t0023 a0002c0002t0026 others(14): Show a0002c0002t0001 a0002c0002t0023 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0041 a0002c0018t0001 a0002c0019t0001 a0002c0040t0001 a0013c0020t0001 a0019c0027t0001 a0022c0044t0001 a0023c0033t0040 a0024c0024t0001 a0026c0039t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 others(54): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0189 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0267 a0002c0002t0023g0003 a0002c0002t0026g0003 a0002c0002t0027g0246 a0002c0002t0028g0251 a0002c0002t0029g0224 a0002c0002t0030g0005 a0002c0002t0041g0241 a0002c0018t0001g0005 a0002c0019t0001g0039 a0002c0040t0001g0040 a0013c0020t0001g0222 a0013c0020t0001g0253 a0019c0027t0001g0231 a0022c0044t0001g0237 a0023c0033t0040g0242 a0024c0024t0001g0240 a0026c0039t0001g0250	76	404	0.1881	464	c.123 others(483): Show c.1231-1332_1231-1331insATGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCC TCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCCTCCTGCCCT CCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGTCCCTCCACCTGCCCT CCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATGTCCCTCCA CCTGCCCTCTTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCATG TCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTC CTGCCATGTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCACCTGCCCTC CTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCC		TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
TPK1_chr7_144446941_144841053	144780558	T T	TATATTAT others(457): Show TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TAGTATATTATATTATATAGTATATAATATATATTATATTATATAGTATA TTATATTATATTATATAGTATATTATATTATATTATATAGTATATAATAT AGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTA TATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATT ATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTAT ATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAA TATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATA GTATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	118	0.0085	464	c.44- others(481): Show c.44-14608_44-14607insTATATACTATATAATATAATATACTATA TTATATACTATATAATATAATATACTATATTATATACTATATAATATAAT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACTATATAATATAATATACTATATTATATACTATATAATAT AATATACTATATTATATACTATATAATATAATATACTATATTATATACTA TATAATATAATATAATATACTATATAATATAATATAATATACTATATAAT ATAATATATATTATATACTATATAATATAATATACTATATTATATACTAT ATAATATAATATACTATATTATATACTATATAATAT		TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8						chr7	TogoVar
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(457): Show CATGTATACGGGTATACATGTATATATGTATACATGTATACGGGTATACA TGTATATATGTATACATGTATACGGGTATACATGTATATATGTATACATG TATACGGGTATACATGTATATATGTATACATGTATACGGGTATACATGTA TATATGTATACATGTATACGGGTATACATGTATATATGTATACATGTATA CGGGTATACATGTATATATGTATACATGTATACGGGTATACATGTATATA TGTATACATGTATACGGGTATACATGTATATATGTATACATGTATACGGG TATACATGTATATATGTATACATGTATACGGGTATACATGTATATATGTA TACATGTATATGGGTATACATGTATACATGTATACATGTATATGGGTATA CATGTATACATGTATATGGGTATACATGTATACATGTATACATGTATATG GGTATACATGTATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0233 a0001c0001t0006g0233	1	252	0.0040	464	c.170 others(483): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACATGTATACCCATATACATGTATACATGTATACCCATAT ACATGTATACATGTATACATGTATACCCATATACATGTATACATATATAC ATGTATACCCGTATACATGTATACATATATACATGTATACCCGTATACAT GTATACATATATACATGTATACCCGTATACATGTATACATATATACATGT ATACCCGTATACATGTATACATATATACATGTATACCCGTATACATGTAT ACATATATACATGTATACCCGTATACATGTATACATATATACATGTATAC CCGTATACATGTATACATATATACATGTATACCCGTATACATGTATACAT ATATACATGTATACCCGTATACATGTATACATATATACATGTATACCCGT ATACATGTATACATATATACATGTATACCCGTATACAT		TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12						chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870350	A A	ACCCCATA others(457): Show ACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCATACACACCACACACACCACACACCCCAC ACACACCACACCCCACACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCACACCCCATACACACCACACCCCACACAC CCCCCACACACCACACCCCATACACACCACACCCCACACACCCCCACACA CCACACCCCATACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	338	0.0030	464	c.35 others(483): Show c.35+21618_*35+21619insCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA CCACACACACCACACACCCCACACACACCACACCCCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACACCACACCCC ATACACACCACACCCCACACACCCCCCACACACCACACCCCATACACACC ACACCCCACACACCCCCACACACCACACCCCATACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACCCCACACACACC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(457): Show TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT CGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCAC ATATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGGCTC GCCCCTCACTAGTCACATATCAAATCCTGTCTCATCCCTCACTAGTCACA TATCAAATCTTGGCTGACCCCTTACTAGTCACATATCGAATCCTGGCTCA CCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACG TATCAAATCCTGGCCGACCCCTTACTAGTCACATATCGAATCCTGGCTCA CCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACG TATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG02738.hp2 others(1): Show HG00323.hp2 HG00423.hp1 HG02738.hp2 NA18979.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0008 a0002c0003 a0004c0008	a0002c0003t0036 a0002c0003t0144 a0002c0003t0148 others(1): Show a0002c0003t0036 a0002c0003t0144 a0002c0003t0148 a0004c0008t0036	a0002c0003t0036g0176 a0002c0003t0144g0215 a0002c0003t0148g0174 others(1): Show a0002c0003t0036g0176 a0002c0003t0144g0215 a0002c0003t0148g0174 a0004c0008t0036g0207	4	232	0.0172	464	c.87 others(475): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAG CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG ACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGC CAGGATTTGATATGTGACTGGTGAGGGGCG		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22				8794		chr17	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(457): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCC CCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0213 a0002c0002t0001g0213	1	246	0.0041	464	c.53- others(477): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT TTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(457): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCT CTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCC TCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCC TCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCC CCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	246	0.0041	464	c.53- others(477): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCC TCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCC CTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT TTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
XG_chrX_2747040_2821500	2773646	C C	CGAAGGAA others(457): Show CGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0009 a0002c0003t0007g0009	1	322	0.0031	464	c.104 others(481): Show c.104-1055_104-1054insCGAAGGAAGGAAGGAGCGAAGGAAGGAA GGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGCGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773777	A A	AGGAAGGA others(457): Show AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAG GAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAG GAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0190 a0001c0002t0007g0190	1	322	0.0031	464	c.104 others(479): Show c.104-864_104-863insGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGG GAAGGAAGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGA AGGAGAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(457): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01123.hp2 others(9): Show HG01070.hp2 HG01071.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG02258.hp1 HG02630.hp2 HG02970.hp2 HG03225.hp1 NA18950.hp2 NA18971.hp1 NA19060.hp1	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0008	a0003c0003 a0004c0004 a0005c0005 others(1): Show a0003c0003 a0004c0004 a0005c0005 a0008c0009	a0003c0003t0002 a0004c0004t0005 a0005c0005t0002 others(1): Show a0003c0003t0002 a0004c0004t0005 a0005c0005t0002 a0008c0009t0009	a0003c0003t0002g0002 a0003c0003t0002g0021 a0003c0003t0002g0055 others(7): Show a0003c0003t0002g0002 a0003c0003t0002g0021 a0003c0003t0002g0055 a0003c0003t0002g0060 a0003c0003t0002g0092 a0004c0004t0005g0016 a0005c0005t0002g0019 a0005c0005t0002g0053 a0005c0005t0002g0064 a0008c0009t0009g0020	12	412	0.0291	464	c.-42 others(475): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTG		ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding					3825		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(457): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATATATC ATATATATCACATATATGATATATATATCATATATCACATATATGATATA TATATCATATATCACATATATGATATATATATCATATATCACATATATGA TATATATATCATATATATCATATGATATATATATCATATATATCACATAT ATGATATATATCACATGTGATATATAGCATATATATCATGCTATACATCA TATATGATATATATGATATATATCACGTATGCTATATAGCATATGTGATA TATATGATATATATCACATATGCTATATAGCATATGTGATATATATGATA TATATCACATATGCTATATATCATATGTGATATATATGATATATATCACA TATGCTATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	350	0.0029	464	c.-36 others(475): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATATATCATATATATCACATATATGATATATATATCATATAT CACATATATGATATATATATCATATATCACATATATGATATATATATCAT ATATCACATATATGATATATATATCATATATATCATATGATATATATATC ATATATATCACATATATGATATATATCACATGTGATATATAGCATATATA TCATGCTATACATCATATATGATATATATGATATATATCACGTATGCTAT ATAGCATATGTGATATATATGATATATATCACATATGCTATATAGCATAT GTGATATATATGATATATATCACATATGCTATATATCATATGTGATATAT ATGATATATATCACATATGCTATATATCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3527		chr10	TogoVar
ZNF681_chr19_23734195_23763891	23753347	T T	CGAGATTG others(457): Show CGAGATTGCACCAGTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTC TCAAAAAAAAATCTTATTTACGATAGCATTAAAATAAATTTCTGAGAAGA AATTTAATCAAAGAGGTAGAAAATCTTTACAATGAAAGATATATCAATGA GAGAAATTAGAAAAGACACAAATAAATTTAAAAATATTTCATGTCTATAG ATTGAAAGAATAAATACTGTTAAAGTGCCATGTTGGCCAGGCACGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATCT GAGGTCAAAAGTTCAAGACCAGCCTGGCCAACATACTGAAACCCCATCTA TACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTATAGTCC CAGCTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACCCGGGAGGCAG AGGTTGCAGTGAGCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG03471.hp1 others(1): Show HG02647.hp1 HG02886.hp2 HG03471.hp1 HG03540.hp2	a0007 a0008 a0007 a0008	a0007c0008 a0008c0009 a0007c0008 a0008c0009	a0007c0008t0007 a0008c0009t0007 a0007c0008t0007 a0008c0009t0007	a0007c0008t0007g0049 a0007c0008t0007g0211 a0008c0009t0007g0213 a0007c0008t0007g0049 a0007c0008t0007g0211 a0008c0009t0007g0213	4	394	0.0102	464	c.226 others(481): Show c.226+1476_226+1477insGCTCACTGCAACCTCTGCCTCCCGGGTT CAAGCAATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCACA TGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTATAGATGGGGTTTCA GTATGTTGGCCAGGCTGGTCTTGAACTTTTGACCTCAGATGATCCACCTG CCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGG CCAACATGGCACTTTAACAGTATTTATTCTTTCAATCTATAGACATGAAA TATTTTTAAATTTATTTGTGTCTTTTCTAATTTCTCTCATTGATATATCT TTCATTGTAAAGATTTTCTACCTCTTTGATTAAATTTCTTCTCAGAAATT TATTTTAATGCTATCGTAAATAAGATTTTTTTTTGAGACAGAGTCTTGCT CTGTTGCCCAGGCTGGAGTGCACTGGTGCAATCTCG		ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding	3/3						chr19	TogoVar
ZNF880_chr19_52364923_52390795	52384797	A A	AACCTTAC others(457): Show AACCTTACAAATGTAATGAATTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGACAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAACAAACAAACAAACAAAAAA AAACAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTG CACAACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGAC TGTGGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGT TCACACTGGAGAGAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG04228.hp1 HG04228.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0020 a0004c0017t0001g0020	1	458	0.0022	464	c.123 others(473): Show c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGACAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAACAAACAAACAAACAAAAAAAAACAAA TGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTGCACAACA TCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGACTGTGGCA AGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGTTCACACT GGAGAGAGACCTTACAAATGTAATGAAT	p.Cys others(5): Show p.Cys413fs	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	1281/2258	1238/1734	413/577		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF880_chr19_52364923_52390795	52384797	A A	AACCTTAC others(457): Show AACCTTACAAATGTAATGAATTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAACAAACAAACAAACAAAAAA AAACAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTG CACAACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGAC TGTGGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGT TCACACTGGAGAGAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02015.hp1 HG02071.hp1 NA18941.hp1 others(10): Show HG02015.hp1 HG02071.hp1 NA18941.hp1 NA18947.hp2 NA18977.hp2 NA18978.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18993.hp2 NA19056.hp1 NA19065.hp2 NA19075.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0020 a0004c0005t0001g0021 a0004c0005t0001g0091 others(7): Show a0004c0005t0001g0020 a0004c0005t0001g0021 a0004c0005t0001g0091 a0004c0005t0001g0092 a0004c0005t0001g0094 a0004c0005t0001g0095 a0004c0005t0001g0096 a0004c0005t0001g0118 a0004c0005t0001g0127 a0004c0005t0001g0132	13	458	0.0284	464	c.123 others(473): Show c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAACAAACAAACAAACAAAAAAAAACAAA TGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTGCACAACA TCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGACTGTGGCA AGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGTTCACACT GGAGAGAGACCTTACAAATGTAATGAAT	p.Cys others(5): Show p.Cys413fs	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	1281/2258	1238/1734	413/577		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA13_chr7_48166458_48652497	48443861	T T	TCCTCTTT others(458): Show TCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTA CAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTT TCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGG AAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCC TGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACC CTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACA GGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTC CTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAA ACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTG TTACAGGAGGAAACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02523.hp2 HG03492.hp2 others(6): Show HG01123.hp2 HG02523.hp2 HG03492.hp2 HG03654.hp1 HG04204.hp2 NA18944.hp1 NA18986.hp1 NA18994.hp2 NA19011.hp2	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0010 a0018 a0019	a0001c0001 a0001c0010 a0003c0004 others(4): Show a0001c0001 a0001c0010 a0003c0004 a0007c0013 a0010c0016 a0018c0025 a0019c0033	a0001c0001t0001 a0001c0010t0001 a0003c0004t0001 others(4): Show a0001c0001t0001 a0001c0010t0001 a0003c0004t0001 a0007c0013t0002 a0010c0016t0001 a0018c0025t0001 a0019c0033t0003	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0010t0001g0066 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0010t0001g0066 a0003c0004t0001g0033 a0007c0013t0002g0088 a0010c0016t0001g0087 a0010c0016t0001g0108 a0018c0025t0001g0053 a0019c0033t0003g0117	9	178	0.0506	465	c.125 others(488): Show c.12566-11022_12566-11021insCCCTCTTTCCTTCCTGTTACAG GAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCC TTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAA CACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGT TACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTC TTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGA GGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTT CCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACA CCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTA CAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACA		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	42/61					INFO_REALIGN_3_PRIME	chr7	TogoVar

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