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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNG2_chr18_79792938_79905100	79857064	G G	GCCCCCAC others(889): Show GCCCCCACAGCCGCCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACA GCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCC ACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	308	0.0032	896	c.-41 others(911): Show c.-41+629_-41+630insCCCCACAGCTGCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCA CAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCC CCCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACC TCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCA CAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCC CCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCC CCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(889): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG AGGGTGATGATGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGG GGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGG GGGTAATGACGGTGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGATGGTGGGGGTGATGACGATGATGGTGGGGGTGATGACGGTGATG GCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGG GTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGTGATGATGGT GATGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGG GGGTGGGGGTGGGGGTAATGACGGTGGGGTGGGGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0056 a0056	a0056c0101 a0056c0101	a0056c0101t0001 a0056c0101t0001	a0056c0101t0001g0143 a0056c0101t0001g0143	1	31	0.0323	896	c.956 others(913): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCATCATCGTC ATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCACCGTCATTACCCCCACCATCATCACCCTCACCATCATCACCCC CACCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCACCGTCATTA CCCCCACCATCATCACCCTCACCATCATCACCCCCACCCCCACCATCATC ACCCCCACCATCACCATCATCACCCCCACCATCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCG TCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACC CCCACATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACCC CTCCACCCCCATCATCACCGTCATCACCCCCACCATCATCACCCCCAGCC CCACCGTCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATC ACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(889): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATATCCATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATCCATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0233 a0002c0002t0002g0233	1	207	0.0048	896	c.126 others(913): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATGG ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LDLRAD3_chr11_35939062_36237136	36055104	T T	TGCATAGA others(889): Show TGCATAGAGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATG GATGGGTGGATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGT TGGATGAATGGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATG GATGAATGGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGCATGGATGGATGGACGATGGATAC ATGGATGCATGGATGGATGGATGCATGGATGGATGGATGATGGATACATG GATGCATGGATGGATGGTTGGATGGATGGATGCATGGATGCATGGATGGA TGGATGCATGGGTGGATGGATGCATGGATGGATGGATGGATGGATGGATG GATAAATGGATGCATGGATGCATGGATGGATGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATAGATGCATGGATGGATGGATGAATG GATGGATGGATGGATGGATGGATAGATGGATGAATGGATGAATGGATGAA TGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCAGTG GATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGTAGA TTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACCACATG TCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGCCCC TTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGTAAACA AGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGATGC TTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTATC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01109.hp1 others(11): Show HG01070.hp2 HG01071.hp2 HG01109.hp1 HG02040.hp2 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02683.hp2 HG03492.hp2 NA18945.hp2 NA18951.hp1 NA19002.hp1 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0058 a0001c0001t0001g0142 a0001c0001t0001g0145 others(11): Show a0001c0001t0001g0058 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0002g0131 a0001c0001t0004g0029 a0001c0001t0004g0109 a0001c0001t0011g0211 a0001c0002t0001g0163 a0001c0002t0001g0212 a0001c0002t0002g0217 a0001c0002t0004g0110	14	29	0.4828	896	c.193 others(915): Show c.193+18855_193+18856insGCATAGAGGGATAGTTGGATGAATGG ATGGATGGATAGATGGATGGATGGATGGGTGGATGAATGGATGGATGGAT GCATGGATGGATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGG ATGGATAGATGGATGGATGGATGGATGAATGGATGGATGGGTGCATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGC ATGGATGGATGGACGATGGATACATGGATGCATGGATGGATGGATGCATG GATGGATGGATGATGGATACATGGATGCATGGATGGATGGTTGGATGGAT GGATGCATGGATGCATGGATGGATGGATGCATGGGTGGATGGATGCATGG ATGGATGGATGGATGGATGGATGGATAAATGGATGCATGGATGCATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGCATGGATGGATGGATGAATGGATGGATGGATGGATGGATGGATAGAT GGATGAATGGATGAATGGATGAATGGATGGATGAGTAGGTGGAAGGGTAG ATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTGGTTGAGT AGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAAGACAGAG GTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCTCCCTTCC TATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCATTGCCTC TCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTTATAGTTT TCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAGGTCTGAT ACACCTTGTTCACTGTTATC	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LRRC27_chr10_132327193_132386508	132364365	G G	GCTTACAC others(889): Show GCTTACACCCACCCTTACATCTACCTCCACGCCCACACTTACACCCACAC TTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACAC CCACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACGCCCACACTTACACTCATGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCACA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	246	0.0041	896	c.129 others(915): Show c.1290-1046_1290-1045insTTACATCTACCTCCACGCCCACACTT ACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACAC TTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCGCTTACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACGCCCACACTTACACTCATGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACCCACACTTACACCC ACCCACACTTACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(889): Show CCACCCTTACATCTACCTCCACGCCCACACTTACACCCACCCTTACATCT ACCTCCACACCCGCGCTTACACCCACACTTACATCTACCTCCACACCCAC ACTTACACCCACACTTACATCTACCTCCACACTCGCACTTACACCCACGC TTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCAC ACTCGCACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGC GCTTACACCCACCCACACTTACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCGCGCTTACACCCACACTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0229 a0001c0002t0012g0229	1	215	0.0047	896	c.129 others(913): Show c.1290-942_1290-941insTTACATCTACCTCCACGCCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACACTTACAT CTACCTCCACACCCACACTTACACCCACACTTACATCTACCTCCACACTC GCACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACAC TTACATCTACCTCCACACTCGCACTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCGCGCTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCACACTT ACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1990702	C C	CCGCCACT others(889): Show CCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACC TGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTG AGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGG TGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACC GCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTG CCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAG CACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTG CCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGC TGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAG CACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCT CACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGC TGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	255	0.0039	896	c.141 others(917): Show c.1417-10162_1417-10161insCTCTGGTGGGGCAGGTGCTCAGGC ACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGC TCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGC AGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGG TGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCG CTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCA GTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGG CCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTC GTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCG GTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCAC CCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTC AGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAG GTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTG GGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCT CTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGT GGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCC AGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGT GAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGT GCTCGTGAGGCCAGCAGTGGCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCT others(889): Show CCTCCCCTCTCCCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCTC CCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCCTCTTCCCCCTCCCC CTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCC CCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCC CTCTCCCCTTCCCCTTTCCGCTCTCCCCCTCCCTCTCTCCCACTTTGCTC ACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCT TCCCCCTCCTCCTCATCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCT CCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCTCCCCTTCCCCCTTTCC CTCTTCCCCCTCCCCTTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCC CCCTCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCC CTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCCCATCCCCTC TCCTCTCTCCCCCTCTCCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCTTC TCCCCCTCCTCCCCCCCCCTTCCCCTTCCCCCCACTCTTCCTCCCCCACT CCCCTCCCCATCTCCCCCTTCCCCATTCTCCCCCTCCTCCTCTTCCCCTC CCCCTCTCCCCCCTCCCCACTCTGCCTCCCCATCTCCTCCCCCCTCCCCT CCTCCCCCTCCCCCTCCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCC CTTCTCCCCCACCCCTCCCCCCACTCTCCCTTCCCCCTCTTCCCCTCTCC TCCCTTCTCCCCCACCCTCCCCCTCCCCCCCTCTCCCCTTTCCCCCA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0265 a0001c0002t0006g0265	1	6	0.1667	896	c.100 others(915): Show c.1005+3276_1005+3277insTCTCCCTCTCCATCACCCCCTCTCCA TCACCCTCCCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTC CCCTCTTCCCCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTC CATCCCCCTCCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCT TTCCCCTTCCCCCTTCCCTCTCCCCTTCCCCTTTCCGCTCTCCCCCTCCC TCTCTCCCACTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCC CCTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCCCTCCTTCTCCATCC CCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCC TCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCTTCTTCCCTCTCTCTCCT TCCCCCTCTCCCCATCCCCCTCCCCTCTTCCCTCTCCCTCTCCATCCCCA TCCCCCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTT CTCCCCCCCATCCCCTCTCCTCTCTCCCCCTCTCCCCCCCTCTTCCCTCT CCCTTCCCCCTTCCTTCTCCCCCTCCTCCCCCCCCCTTCCCCTTCCCCCC ACTCTTCCTCCCCCACTCCCCTCCCCATCTCCCCCTTCCCCATTCTCCCC CTCCTCCTCTTCCCCTCCCCCTCTCCCCCCTCCCCACTCTGCCTCCCCAT CTCCTCCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCACTCTCCCTCCCC CTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCCACTCTCCCTTC CCCCTCTTCCCCTCTCCTCCCTTCTCCCCCACCCTCCCCCTCCCCCCCTC TCCCCTTTCCCCCACTCCCC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MELTF_chr3_196996740_197034817	197033297	G G	GGTGTGAG others(889): Show GGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTTGCT GACTGGTTACTGTGTGAGCACCTGCTGTAGTGTGATGTCAGAGGATGTTA CACTCTTGCTGACGGGTTGGGGTGTCAGCATCTGCAGTAGTGTGATGTCA GAGGATGTTACCCTCTTGCTGACTTGTTGGGGTGTGAGCACCTGCAGTAG TGTGATGTCAGAGGATGTTACACTCTTGCTGACTGGTTGGGTGTGAGCAC CTGCAGTCGTGTGATGTCAGAAGATTTTACACTCTTGCTGACTGGTTGTG GTGTGAGCACCTGCAGTAGTGTGATGTCAGAGCATGTTACACTCTTGCTG ACTGGTTGGGTGTGAGCACCTGCAGTCGTGTGATGTCAGAGGATGTTACA CTCTTGCTGACTGGTTGGGGTGAGTACCTGCAGTAGTGTGATGTCAGAGG ATGTTACACTCTTGCTGACTGGTTGGGACATGAGCACCTGCAGTAGTGTG ATGTCAGAGGATGTTACGCTCTTGCTGGCTGGTTGGGGTGTGAGCACCTG CAGTGGTGTGATGTCAGAGGATGTTACTCTCCTGCTGACGGGATGGGATG TGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACGCTCTTGCTGACT GGTTGGGGTGTGAGCACCTGCAGTCGTGTGATGTCAGAGGATGTTACTCT CTTGCTGACTGGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGG ATGTTACACTCTTGCTGACTGGTTGGGACATGAGCACCTGCAGTAGTGTG ATGTCAGAGGATGTTACACTCTTGCCAACTGGTTGGGGTGTGAGCATCTG CAGTAGTGTGATGTCAGAGGATGTTACTCTCTTGCTGACTGGTTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0021 a0002c0009t0021	a0002c0009t0021g0087 a0002c0009t0021g0087	1	304	0.0033	896	c.-35 others(907): Show c.-3596_-3595insAGTAACCAGTCAGCAAGAGAGTAACATCCTCTGA CATCACACTACTGCAGATGCTCACACCCCAACCAGTTGGCAAGAGTGTAA CATCCTCTGACATCACACTACTGCAGGTGCTCATGTCCCAACCAGTCAGC AAGAGTGTAACATCCTCTGACATCACACTACTGCAGGTGCTCACACCCCA ACCAGTCAGCAAGAGAGTAACATCCTCTGACATCACACGACTGCAGGTGC TCACACCCCAACCAGTCAGCAAGAGCGTAACATCCTCTGACATCACACTA CTGCAGGTGCTCACATCCCATCCCGTCAGCAGGAGAGTAACATCCTCTGA CATCACACCACTGCAGGTGCTCACACCCCAACCAGCCAGCAAGAGCGTAA CATCCTCTGACATCACACTACTGCAGGTGCTCATGTCCCAACCAGTCAGC AAGAGTGTAACATCCTCTGACATCACACTACTGCAGGTACTCACCCCAAC CAGTCAGCAAGAGTGTAACATCCTCTGACATCACACGACTGCAGGTGCTC ACACCCAACCAGTCAGCAAGAGTGTAACATGCTCTGACATCACACTACTG CAGGTGCTCACACCACAACCAGTCAGCAAGAGTGTAAAATCTTCTGACAT CACACGACTGCAGGTGCTCACACCCAACCAGTCAGCAAGAGTGTAACATC CTCTGACATCACACTACTGCAGGTGCTCACACCCCAACAAGTCAGCAAGA GGGTAACATCCTCTGACATCACACTACTGCAGATGCTGACACCCCAACCC GTCAGCAAGAGTGTAACATCCTCTGACATCACACTACAGCAGGTGCTCAC ACAGTAACCAGTCAGCAAGAGTGTAACATCCTCTGACATCACACTACTGC AGGTGCTCACAC	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		3481		chr3	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(889): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGG GAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCG GGGGGAAGGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTG GGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAA GGGGTGGGGGGAAGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGGAAG GGGGAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGG GAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGG GGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGG GAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAG GGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGG GAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAG TGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAG GGAGGGGAGGGGAGGGGGAGGGGGGAGGGAAGGGAGGGGGAGGGGGAGGG AAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	8	0.1250	896	c.250 others(911): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCC CTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCA CTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCT CCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTC CCCTCACCCCTTTCCCCCTTCCCCCCCTTCCCCTCACCCCTTTCCCCTTC CCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCC CTTTCCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCC CCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCT TCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCT TCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSR1_chr8_16102881_16197651	16189596	T T	TATATATA others(889): Show TATATATATAAAATCTTATTTTATATATATTTGATATATATTTTTTATAT ATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATA AAATCTTATTTTATATATATTTTATATATATTTTATATATATATAAAATC TTACTTTATATTTTATATATATGAAATCTTACTTTATATATATTTTATAT ATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATTT TATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CTTATTTTATATATATTTTATATATATATAAAATAAGATTTTATATATAT TTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAA ATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATAT ATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATA AAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATAT ATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATA TAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATTTTAT ATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATAT ATATAAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATAT AAAATAAGATTTTATATATATATAAAATAAGATTTTATATATATAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0155 a0001c0001t0029g0155	1	327	0.0031	896	c.-5+ others(911): Show c.-5+3001_-5+3002insTTTATATATATAAAATCTTATTTTATATAT ATATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATAT AAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAA TCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATA TATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTT ATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATA TATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATT TTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAA TATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTA TTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAA AATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAA GATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAT AAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAAT AAGATTTTATATATATAAAATAAGATTTTATATATATAAAATATATATAA AGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATATA TATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAATA TATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATT TTATATATATATAAAATATATAAAAAATATATATCAAATATATATAAAAT AAGATTTTATATATAT	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(889): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGC AGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGG GGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGC AGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGG ATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCA GGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAAGGACA GTGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGCGGG GGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGG GGATGGGCAGGGACGGTGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACA GTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGG GGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGGATG GGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGATGGGCAGG GACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0307 a0001c0005t0003g0307	1	139	0.0072	896	c.141 others(913): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCACTGTCCCTGCCCATC CCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTC ACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTG TCCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGC CCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACC CCCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCAC TGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCC CCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCC CCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCC TCACCGTCCCTGCCCATCCCCCCCGCACCGTCCCTGCCCATCCCCCCCCA CTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(889): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTGGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACTA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACGGAGGATCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTGGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCACTA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	166	0.0060	896	c.-45 others(917): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTAGTGAACCTCCAACCGCCTTCCAGAG TATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTG TACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTG TACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGAACCTCCAACCACCTTCCAGAGTG TATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAGTG TACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
PDZK1IP1_chr1_47178582_47195036	47184459	G G	GCTCCATC others(889): Show GCTCCATCCCCCACTAAACCCATCTCCCAACAAGCTCCATCCCCCACCAA GCTCCATCCCCCACTAAACCCATTCCCACTGAGTCCATCACCCACTGAGT CCATCCCCCACTGAGTCCATCCTCCACTGAACCCATGCCCCACTGAACCC ATCCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAGCCCAT TCCCCACTGAGTCCATCCTCCACTGAGTCCATCCTCCACTGAACCCATGC CCCACTGAACCCATCCCCCACTGAACCATCCCCCACTGAACCTATCCCCC ACTGAGCCCATTCCCCACTGAGTCCATCCCCCACTGAGTCCATCCCCCAC TGAGTCCATCCCTCACTGAGTCCATCCCTTGCTGAGCCCATACCCGCTAA GTCCATCCCCCGCTGAGTCCATCCCCCGCTGAGTCCATCCCCTGCTGAGT CCATCCCCCACTGAGCTCCATCCCCCACTAAGCTCCATCCCCCACTAAAC CCATCTCCCAACAAGCTCCATCCCCCACCAAGCTCCGTCCGCCACCAAGC TCCATCCCCCACTAAACCCATCCCCCACTGAGCTCCATCCTCCACTGAAC CCATCCCCACTGAGTCCATCTCCCACTGAGTCCAACCCCACTGAACCCAT CCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAACCCATCC CTCACTGAACCCATCCTCCACTGAATCCATCCCCCACTGAGCTCCATCCC CCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAATCCATCCCCC ACTGAACCCATCCCCCACTGAATCCATCCCCCACTGAGCTCCATCCCCCA CTGAACCCATCCCTCACTGAACCCATCCTCCACTGAATCCATCCCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	2	0.5000	896	c.273 others(911): Show c.273-417_273-416insGGGGGATGGATTCAGTGGAGGATGGGTTCA GTGAGGGATGGGTTCAGTGGGGGATGGAGCTCAGTGGGGGATGGATTCAG TGGGGGATGGGTTCAGTGGGGGATGGATTCAGTGGGGGATGGGTTCAGTG GGGGATGGGTTCAGTGGGGGATGGAGCTCAGTGGGGGATGGATTCAGTGG AGGATGGGTTCAGTGAGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGGG GATGGGTTCAGTGGGGGATGGGTTCAGTGGGGTTGGACTCAGTGGGAGAT GGACTCAGTGGGGATGGGTTCAGTGGAGGATGGAGCTCAGTGGGGGATGG GTTTAGTGGGGGATGGAGCTTGGTGGCGGACGGAGCTTGGTGGGGGATGG AGCTTGTTGGGAGATGGGTTTAGTGGGGGATGGAGCTTAGTGGGGGATGG AGCTCAGTGGGGGATGGACTCAGCAGGGGATGGACTCAGCGGGGGATGGA CTCAGCGGGGGATGGACTTAGCGGGTATGGGCTCAGCAAGGGATGGACTC AGTGAGGGATGGACTCAGTGGGGGATGGACTCAGTGGGGGATGGACTCAG TGGGGAATGGGCTCAGTGGGGGATAGGTTCAGTGGGGGATGGTTCAGTGG GGGATGGGTTCAGTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGAG GATGGACTCAGTGGGGAATGGGCTCAGTGGGGGATGGGTTCAGTGGGGGA TGGGTTCAGTGGGGGATGGGTTCAGTGGGGCATGGGTTCAGTGGAGGATG GACTCAGTGGGGGATGGACTCAGTGGGTGATGGACTCAGTGGGAATGGGT TTAGTGGGGGATGGAGCTTGGTGGGGGATGGAGCTTGTTGGGAGATGGGT TTAGTGGGGGATGGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding	3/3			chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47184459	G G	GCTCCATC others(889): Show GCTCCATCCCCCACTAAACCCATCTCCCACCAAGCTCCATCCCCCACTAA ACCCATTCCCACTGAGTCCATCACCCACTGAGTCCATCCCCCACTGAGTC CATCCTCCACTGAACCCATGCCCCACTGAACCCATCCCCCACTGAACCCA TCCCCCACTGAACCCATCCCCCACTGAGCCCATTCCCCACTGAGTCCATC CTCCACTGAGTCCATCCTCCACTGAACCCATGCCCCACTGAACCCATCCC CCACTGAACCATCCCCCACTGAACCTATCCCCCACTGAGCCCATTCCCCA CTGAGTCCATCCCCCACTGAGTCCATCCCCCACTGAGTCCATCCCTCACT GAGTCCATCCCTTGCTGAGCCCATACCCGCTAAGTCCATCCCCCGCTGAG TCCATCCCCCGCTGAGTCCATCCCCTGCTGAGTCCATCCCCCACTGAGCT CCATCCCCCACTAAGCTCCATCCCCCACTAAACCCATCTCCCAACAAGCT CCATCCCCCACCAAGCTCCGTCCGCCACCAAGCTCCATCCCCCACTAAAC CCATCCCCCACTGAGCTCCATCCTCCACTGAACCCATCCCCACTGAGTCC ATCTCCCACTGAGTCCAACCCCACTGAACCCATCCCCCACTGAACCCATC CCCCACTGAACCCATCCCCCACTGAACCCATCCCTCACTGAACCCATCCT CCACTGAATCCATCCCCCACTGAGCTCCATCCCCCACTGAACCCATCCCC CACTGAACCCATCCCCCACTGAATCCATCCCCCACTGAGCTCCATCCCCC ACTGAACCCATCCCCCACTGAATCCATCCCCCACTGAGCTCCATCCCCCA CTGAACCCATCCCTCACTGAACCCATCCTCCACTGAATCCATCCCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01891.hp2 others(13): Show HG00642.hp2 HG00738.hp2 HG01891.hp2 HG01943.hp2 HG02486.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0001g0026 others(3): Show a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0047	16	17	0.9412	896	c.273 others(911): Show c.273-417_273-416insGGGGGATGGATTCAGTGGAGGATGGGTTCA GTGAGGGATGGGTTCAGTGGGGGATGGAGCTCAGTGGGGGATGGATTCAG TGGGGGATGGGTTCAGTGGGGGATGGAGCTCAGTGGGGGATGGATTCAGT GGGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGGGGATGGAGCTCAGTG GGGGATGGATTCAGTGGAGGATGGGTTCAGTGAGGGATGGGTTCAGTGGG GGATGGGTTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGGGT TGGACTCAGTGGGAGATGGACTCAGTGGGGATGGGTTCAGTGGAGGATGG AGCTCAGTGGGGGATGGGTTTAGTGGGGGATGGAGCTTGGTGGCGGACGG AGCTTGGTGGGGGATGGAGCTTGTTGGGAGATGGGTTTAGTGGGGGATGG AGCTTAGTGGGGGATGGAGCTCAGTGGGGGATGGACTCAGCAGGGGATGG ACTCAGCGGGGGATGGACTCAGCGGGGGATGGACTTAGCGGGTATGGGCT CAGCAAGGGATGGACTCAGTGAGGGATGGACTCAGTGGGGGATGGACTCA GTGGGGGATGGACTCAGTGGGGAATGGGCTCAGTGGGGGATAGGTTCAGT GGGGGATGGTTCAGTGGGGGATGGGTTCAGTGGGGCATGGGTTCAGTGGA GGATGGACTCAGTGGAGGATGGACTCAGTGGGGAATGGGCTCAGTGGGGG ATGGGTTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGGGCAT GGGTTCAGTGGAGGATGGACTCAGTGGGGGATGGACTCAGTGGGTGATGG ACTCAGTGGGAATGGGTTTAGTGGGGGATGGAGCTTGGTGGGAGATGGGT TTAGTGGGGGATGGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding	3/3			chr1	TogoVar
PGA4_chr11_61217347_61236694	61227732	C C	CCAGCCTG others(889): Show CCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAAATACAAAAA TTAGCCAGGTATGATGGCAGGCAACTGTACTCCCAGCTACTCAGGAGGCT GAGGCAGGGAGAATCGCTTGAGCCTGGGAGGCATAGGTTGCAGTGAACAA AGATTGTACCACTGCATCCTAGCCTGGGCAACAGAGCAAGACTCCATCTC AATAAATAAATAAATAAATAAATAAATAAAATAAAGTGACTATACTTAGA CCAAAATTCCATAGCACAAAAATGAAAAGATTTGATCAAGATGTATCATG AATGATGACATTTTTCAATCATGAAAGCAAGTTTCTTTTATGATTTAATA AAATCTAGGTTCCATTTGTGACCGGGGGCTAATTCTAGGAATGAACAAAG AATAAATGAACAAACAAACAAATGAACAAAGAATAAACCAAATGTCAGTT TGGGCTGAGTAGAGTGTTATGCAAGAATACCTGAGGGCATCCTCCACTTT CTTAAGACATTCAGCTTTCCTCTAACACTCACCTACATCGTCCTCTCTTG AAAGGGTTCGCCGTCATTCATGTGTCTCCTCGGTTGGTAACTACACGTCT AGGTCCTCACTATATTGCCTTGCACTGTGAGATGTTCGCAGCAAAGGTGG GGTGGGTTCAGTGAGTGGGGTCATGTTTTAGAAATGGCCAGTTCTCGGAT GATTAATTTCTTTTTTTTTTTTTTTTGTGATGGGGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCTATCTCGCCTCACTGCAAGCTCTGCCTCC TGGGTTCATGCCATTGTCTACCTCAGCATCCCGAGTAGCTGGGACTACAG GCATGGGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18986.hp1 NA18966.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	304	0.0066	896	c.656 others(911): Show c.656+413_656+414insCAGCCTGGCCAACATGGCAAAACCCTGTCT CTACTAAAAAATACAAAAATTAGCCAGGTATGATGGCAGGCAACTGTACT CCCAGCTACTCAGGAGGCTGAGGCAGGGAGAATCGCTTGAGCCTGGGAGG CATAGGTTGCAGTGAACAAAGATTGTACCACTGCATCCTAGCCTGGGCAA CAGAGCAAGACTCCATCTCAATAAATAAATAAATAAATAAATAAATAAAA TAAAGTGACTATACTTAGACCAAAATTCCATAGCACAAAAATGAAAAGAT TTGATCAAGATGTATCATGAATGATGACATTTTTCAATCATGAAAGCAAG TTTCTTTTATGATTTAATAAAATCTAGGTTCCATTTGTGACCGGGGGCTA ATTCTAGGAATGAACAAAGAATAAATGAACAAACAAACAAATGAACAAAG AATAAACCAAATGTCAGTTTGGGCTGAGTAGAGTGTTATGCAAGAATACC TGAGGGCATCCTCCACTTTCTTAAGACATTCAGCTTTCCTCTAACACTCA CCTACATCGTCCTCTCTTGAAAGGGTTCGCCGTCATTCATGTGTCTCCTC GGTTGGTAACTACACGTCTAGGTCCTCACTATATTGCCTTGCACTGTGAG ATGTTCGCAGCAAAGGTGGGGTGGGTTCAGTGAGTGGGGTCATGTTTTAG AAATGGCCAGTTCTCGGATGATTAATTTCTTTTTTTTTTTTTTTTGTGAT GGGGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGCCT CACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTGTCTACCTCAGCATCC CGAGTAGCTGGGACTACAGGCATGGGCCACCATGCCCAGCTAATTTTTTG TATTTTTAGTAGAGAT	PGA4	ENSG00000229183.10	transcript	ENST00000378149.9	protein_coding	5/8			chr11	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(889): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGAGAGGGGGAGAGAG GGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAGGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGA GGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAG AGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG AGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGT GAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGT GAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGG GCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAG GCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGA GAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGA GGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGAGAGGGAGAG GGCGAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0020 a0020	a0020c0052 a0020c0052	a0020c0052t0001 a0020c0052t0001	a0020c0052t0001g0113 a0020c0052t0001g0113	1	24	0.0417	896	c.371 others(913): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCT CTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCTCT CACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCT CGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCT TTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCT CTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCC CCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCC CTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCC CTCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCC CCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTC TCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCCTTTCTCTC CCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCTTCTCTCCCCCTCTC CCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCT CCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCC CCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(889): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGAGAGGGGGAGAGAG GGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAGGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGA GGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGG AGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGG GAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGG TGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGG TGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAG GGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCA GGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAG AGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAG AGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGAGAGGGAGAG GGCGAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA20752.hp1 HG03239.hp2 NA20752.hp1	a0007 a0009 a0007 a0009	a0007c0032 a0009c0013 a0007c0032 a0009c0013	a0007c0032t0001 a0009c0013t0001 a0007c0032t0001 a0009c0013t0001	a0007c0032t0001g0008 a0009c0013t0001g0110 a0007c0032t0001g0008 a0009c0013t0001g0110	2	25	0.0800	896	c.371 others(913): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCTCTC ACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTC GCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTT TCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTC TCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCC CTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCC TCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCC CCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTC TCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCCTTTCTCTC CCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCTTCTCTCCCCCTCTC CCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCT CCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCC CCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(889): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACACTATATTATATAATAATATGTAATA CACAATATATTATATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACATTATACATTATTATATAAGTATATGTA ATACATTATACATTATTATATAAGTATATGTAATATATATTATACATTAT TATATAAGTATATGTAATATATATTATACATTATTATATAAGCATATAAT ATATAATACATAATACATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	19	0.0526	896	c.24+ others(913): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACACTAT ATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACACAATATATTATATAATAAT ATGTAATACACAATATATTATATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACATTATAC ATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATAT GTAATATATATTATACATTATTATATAAGTATATGTAATATATATTATAC ATTATTATATAAGCATATAATATATAATACATAATACATTATATATAAGC ATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBFOX1_chr16_6014024_7718340	7146991	T T	TTGAGATG others(889): Show TTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGAT CTCGGCTCACTGCAAGCTCCGCCTACCGGGTTCACGCCACTCTCCTGCCT CAGCCTCCCAAGTAGCTTGGACTACAGGTACCCACCACCATGCTTGGCTA ACTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCACGATG GTCTCGATCTCATGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGGATTACAGGTGTGAGCCACCACGCCCAGCCAAATGCGTTTTTTTCAA CTGCAGTTGGTTCTAGTGTTTATTTGCATTTTGTTTTATTGCAGACCTTC ATGGCACTTGAAATCGGGCCTTGAGACTCCCACCGCAGTGGGTGCTGCGT ATGTCACACTCAACACATGATTCTGTTAATTCACCAGCCAAGAGCCATCA TGTGGCTGTGGTTGAAGCCCAAGGACCCTTTAGGTTTACTCTTGCTTCAT CTCATGGCCTCCACCTTGACATTGAGGCTGTTGCTGTGGGCGAGTACCTA GTTTATTTCTATGGAGAAATCTGATCAAACAGCATCTTGAGTTTGACAGC AAACAAGAAAAACCATAGGGTCAGTGACATTTAAAGGAGTCCCATGGAAG CCATGATTGGGATAAGTGAAGACTGAAGAAAAACAAATGGGGGTTATTTT TCTAACTGGGTTTTCAATAAGTAATTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGCAGGTGTGCACTCTTTTGGGTCTTTTGCGTGTGTTAAAT TTTTATTTTTTGCAATTTTTATTTTAGGTTCAAATACTACATGCACAGGT TTGTTACATGGGTAAATTGTTTATTTATTTAATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02148.hp2 HG01099.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0059 a0001c0001t0032g0068 a0001c0001t0001g0059 a0001c0001t0032g0068	2	56	0.0357	896	c.27+ others(913): Show c.27+94894_27+94895insGAGATGGAGTCTCCCTCTGTTGCCCAGG CTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTACCGGG TTCACGCCACTCTCCTGCCTCAGCCTCCCAAGTAGCTTGGACTACAGGTA CCCACCACCATGCTTGGCTAACTTTTTTTATTTTTAGTAGAGATGGGATT TCACCATGTTAGCCACGATGGTCTCGATCTCATGACCTCGTGATCCACCC GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCA GCCAAATGCGTTTTTTTCAACTGCAGTTGGTTCTAGTGTTTATTTGCATT TTGTTTTATTGCAGACCTTCATGGCACTTGAAATCGGGCCTTGAGACTCC CACCGCAGTGGGTGCTGCGTATGTCACACTCAACACATGATTCTGTTAAT TCACCAGCCAAGAGCCATCATGTGGCTGTGGTTGAAGCCCAAGGACCCTT TAGGTTTACTCTTGCTTCATCTCATGGCCTCCACCTTGACATTGAGGCTG TTGCTGTGGGCGAGTACCTAGTTTATTTCTATGGAGAAATCTGATCAAAC AGCATCTTGAGTTTGACAGCAAACAAGAAAAACCATAGGGTCAGTGACAT TTAAAGGAGTCCCATGGAAGCCATGATTGGGATAAGTGAAGACTGAAGAA AAACAAATGGGGGTTATTTTTCTAACTGGGTTTTCAATAAGTAATTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGCAGGTGTGCACTCTTTTGG GTCTTTTGCGTGTGTTAAATTTTTATTTTTTGCAATTTTTATTTTAGGTT CAAATACTACATGCACAGGTTTGTTACATGGGTAAATTGTTTATTTATTT AATTATTATTATTATTAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(889): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	174	0.0057	896	c.66+ others(911): Show c.66+3483_66+3484insGCTAACTTATAACATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAA	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(889): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	174	0.0057	896	c.66+ others(911): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RPH3AL_chr17_207389_357807	273051	A A	AGAGACCC others(889): Show AGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACG TCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGG GTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCAAGGGTGATGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAG ACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAG GGTGAGACCCCAGCGAGGGTGACTTCAGGGAGAGACCCCAGCGAGGGTGA CTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGC GGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCC CAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTC AGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGT GACGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGC GAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGAC CCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGG TGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGGGTGACG TCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGAGAGACCCCAGCGAGG GCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCA GCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	122	0.0082	896	c.438 others(913): Show c.438+8716_438+8717insACCCTGACGTCACCCTCGCTGGGGTCTC ACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCG CGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGT CACCCGCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCACCC TGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTC TCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTTGCT GGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCC CTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAA GTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCAC CCTGACGTCACCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGG TCTCTCCCTGACGTCACCCGCGCTGGGGTCTCTCCCTGACGTCGCCCTCG CTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCTCCCTGAAGTCA CCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTG ACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCG CGCTGGGGTCTCTCCCTGACGTCACCCGCGCTGGGGTCTCTCCCTGACGT CACCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SBNO2_chr19_1102638_1179268	1142209	T T	TCACGATC others(889): Show TCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGATCAACCCTCC CTCAATGACCTCCCTCCCCACGATCAACCCTCACTCAACGGCCTCCCTCC CCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCAC TCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGACCTCCTTCC CCATGATCAACCCTCCCTCAATGACCTCCCTCCCCAAGATCAAACCTCCC CTCAATGACATCCCTCCCCACGATCAACCCTCACTCAATGACCTCCCTCC CCACGATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCAC TCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGACCTCCTTCC CCAAGATCAACCCTCCCTCAATGACCTCCTTCCCCATGATCAACCCTCCC TCAATGACCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCA TGATCAACCCTCCCTCAATGACCTCCCTCCCCACGATCAACCCTCACTCA ACGGCCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAA GATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCA ATGACCTCCTTCCCCATGATCAACCCTCCCTCAATGACCTCCCTCCCCAA GATCAAACCTCCCCTCAATGACATCCCTCCCCACGATCAACCCTCACTCA ATGACCTCCCTCCCCACGATCAACCCTCACTCAATGACCTCCTTCCCCAA GATCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCA ATGACCTCCTTCCCCAAGATCAACCCTCCCTCAATGACCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG03130.hp1 others(3): Show HG01243.hp2 HG02723.hp1 HG03130.hp1 HG03471.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0011 a0001c0006 a0001c0011	a0001c0006t0001 a0001c0006t0006 a0001c0011t0001 a0001c0006t0001 a0001c0006t0006 a0001c0011t0001	a0001c0006t0001g0013 a0001c0006t0001g0039 a0001c0006t0001g0155 others(3): Show a0001c0006t0001g0013 a0001c0006t0001g0039 a0001c0006t0001g0155 a0001c0006t0001g0179 a0001c0006t0006g0049 a0001c0011t0001g0159	6	202	0.0297	896	c.279 others(913): Show c.279+5099_279+5100insGGGAAGGAGGTCATTGAGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGT CATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGA TCGTGGGGAGGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAGGGATGTC ATTGAGGGGAGGTTTGATCTTGGGGAGGGAGGTCATTGAGGGAGGGTTGA TCATGGGGAAGGAGGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGT CATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGA TCATGGGGAGGGAGGCCGTTGAGTGAGGGTTGATCGTGGGGAGGGAGGTC ATTGAGGGAGGGTTGATCATGGGGAGGGAGGCCATTGAGGGGAGGGTTGA TCGTGAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAAGGAGGTCATT GAGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGATCT TGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATT GAGTGAGGGTTGATCGTGGGGAGGGAGGTCATTGAGTGAGGGTTGATCGT GGGGAGGGATGTCATTGAGGGGAGGTTTGATCTTGGGGAGGGAGGTCATT GAGGGAGGGTTGATCATGGGGAAGGAGGTCATTGAGGGGAGGGTTGATCT TGGGGAAGGAGGTCATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATT GAGTGAGGGTTGATCATGGGGAGGGAGGCCGTTGAGTGAGGGTTGATCGT GGGGAGGGAGGTCATTGAGGGAGGGTTGATCATGGGGAGGGAGGCCATTG AGGGGAGGGTTGATCGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCARA5_chr8_27864883_27997673	27919290	A A	AATGGGAG others(889): Show AATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAG GAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGA GGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGAGGAGAGAAGGGG GAGAGGGGAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGGGAGGAGGGAGGAGCGAGAAGGGAGGAGGAGGAG AGCAAGGGAGGAGGAGGAGAGCTGGCGAGGACGGAGGAGAGAAGCGGACG GAGGAGGCTGCGCCGGGAGCGGCGCGGTGCGCCGTCCTGTTCGTCTTCTT CTCGCCTTCGTTCTGCGTTCTCCGTTGCTTCGGCTGTCCTGGGTCGGTGT GCTTGCTGCTCGTCGGCGTTCTTCGTCTCTCCTTTCGTCTTGCTCGTCCT GTTCTTCTGTCTTCTCTCCGTTGCTTTCTTCTTCTCGTCCTTTCTGTGCT TCGTCTCTTTCTTTGCTGCTTCTTCGCCGTGCGAGCTCCTCTTCTTCTGC TTCTTCTCTCCTTTCTTCTTTCTGTCTCGTCCTTTTCTTGCTTCTTCTCT CCTTGTCTTCTTCTTCGTCTCCTTTCTTCTTCTTCTCTTCGTTGTCTTCT TCTCTTCCTGTCTTCTTCTTCTGCCGTTTCCTTCTCATCTTCTTCGTCTG CCTGTCCTCCTGTTATTTGCCTCTTCCTCTTCTTGTCCTCTTTCTGTCCT TCTTCCTGCTTGTCCCTCTTCGCTGTGCTTCCGTTCTTCTCCGTCTTCTT CTGCCTCTCCTGTCTGTCGTTTCCTCTTCTGGCCTCGTCCCTCTGGCTCC TGTCCTAGCCGCGGTATCCTGCTGTCTTCAGCTGCTTGGTCCCATCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0312 a0001c0002t0065g0312	1	311	0.0032	896	c.916 others(913): Show c.916+2280_916+2281insGGATGGGACCAAGCAGCTGAAGACAGCA GGATACCGCGGCTAGGACAGGAGCCAGAGGGACGAGGCCAGAAGAGGAAA CGACAGACAGGAGAGGCAGAAGAAGACGGAGAAGAACGGAAGCACAGCGA AGAGGGACAAGCAGGAAGAAGGACAGAAAGAGGACAAGAAGAGGAAGAGG CAAATAACAGGAGGACAGGCAGACGAAGAAGATGAGAAGGAAACGGCAGA AGAAGAAGACAGGAAGAGAAGAAGACAACGAAGAGAAGAAGAAGAAAGGA GACGAAGAAGAAGACAAGGAGAGAAGAAGCAAGAAAAGGACGAGACAGAA AGAAGAAAGGAGAGAAGAAGCAGAAGAAGAGGAGCTCGCACGGCGAAGAA GCAGCAAAGAAAGAGACGAAGCACAGAAAGGACGAGAAGAAGAAAGCAAC GGAGAGAAGACAGAAGAACAGGACGAGCAAGACGAAAGGAGAGACGAAGA ACGCCGACGAGCAGCAAGCACACCGACCCAGGACAGCCGAAGCAACGGAG AACGCAGAACGAAGGCGAGAAGAAGACGAACAGGACGGCGCACCGCGCCG CTCCCGGCGCAGCCTCCTCCGTCCGCTTCTCTCCTCCGTCCTCGCCAGCT CTCCTCCTCCTCCCTTGCTCTCCTCCTCCTCCCTTCTCGCTCCTCCCTCC TCCCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCC TCCTCCTCCCTCCCCTCTCCCCCTTCTCTCCTCTCCTCCCTTCTCTCCTC CTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCT CCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATT CTCTCCTCCTCCTCCCAT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCCAC others(889): Show CCCCCCACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTC CTCACTCTATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTC ATTCTACCCCCCACAAGCATTGCTCCAACCCTCCCCCCACTCTCCTCATT CTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCT ATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATC CCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTCTATCCCC CCACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCACTCTATGCCCCCA CAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAG CATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCA TTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCCACAAGCATCG CTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTC CAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCATCACTCCAACC CTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCC CCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTACCCCCCCCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0009 a0004c0028t0009	a0004c0028t0009g0043 a0004c0028t0009g0043	1	192	0.0052	896	c.89- others(909): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAG AGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGT AGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGG GGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGG TTGGAGCAATGCTTGTGGGGGCATAGAGTGAGGAGAGTGGGGGAGGGCTG GAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGCTGGAG TGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGGGGAGGGTTGAAGCAA TGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATG CTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCAATGCT TGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTG GGGGCATAGAGTGAGGAGAGTGGGGGAGGGCTGGAGTGATGCTTGTGGGG GGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAAT GAGGAGAGTGGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDHA_chr5_213320_262082	260753	C C	CAGCATTA others(889): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACTGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCCCCTGCCAGAGC ATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCG CCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTC CCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGT GTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGT CCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGA GCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACTGTGTGAGCTC CGCCTCCCGTCACAGCATTACTGTGTGAGCTCCGCCTCCCGTCAGAGCAT TACTGTGTGAGCTCCGCCTCCCGTCAGATCATTACCGTGTGAGCTCCGCC TCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACC GTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCC GTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGT GAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCA CAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCCCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	166	0.0060	896	c.43 others(907): Show c.4333_*4334insAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAG CATTACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCC GCCCCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCT CCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCG TGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCG CCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAG AGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCACAGAGCA TTACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACTGTGTGAGCTCCGC CTCCCGTCAGAGCATTACTGTGTGAGCTCCGCCTCCCGTCAGATCATTAC CGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCC CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAG CATTACCGTGTGAGCTCCGCCCCCTGCCAGAGCATTACCGTGTGAGCTCC GCCTCCTGCCAG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3672		chr5	TogoVar
SLC1A2_chr11_35246205_35424558	35248711	G G	GGTGCATG others(889): Show GGTGCATGGATCACTAGGGGTCTAGCAGTGCATGGATCACTAGAGGATTA CTAGCAGTGCATGGATCACCTGGGGATTACTAGTGGTGCATGGATCACCA GGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCAGTGCATG GATCACCAGGGGATTACTAGCAGTCCATGGATCACCTGGGGATTACTAGC AGTGCATGGATCACCAGGTGATTACTAGTGCTACATGGATCACCAGGGGA TTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCGGTCCATGGATCA CCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCAGTGT ATGGATCACCAGGGGATTACTAGCGGTGCATGGATCACCAGGGGATTATT AGCAGTGTATGGATCACCAGGGGATTATTAGCAGTGTATGGATCACCAGG GGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCAGTGTATGGA TCACCAGGGGATTACTAGCGGTCCATGGATCACCAGGGGATTACTAGCAG TGCATGGATCACCAGGGGATTACTAACAGTGCATGGATCACGAGGGTATT ACTAGCAGTGTATGGATCACCAGGGGATTACAAGCGGTGTATGGATCACT AGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCAGTGCAT GGATCACCAGGGGATTACTAGCGGTGCATGGATCACCAGGGGATTACTAG TGCTACATGGATCACCAGGGGATTACTAGCAGTGCATGGATCACCAGGGG ATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCAGTGCATGGATC ACCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03540.hp2 HG02486.hp1 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0030 a0001c0006t0030	a0001c0006t0030g0235 a0001c0006t0030g0294 a0001c0006t0030g0235 a0001c0006t0030g0294	2	85	0.0235	896	c.12 others(909): Show c.12182_*12183insTGCTAGTAATCCCCTGGTGATCCATGCACTGC TAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCA TGCACTGCTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTG GTGATCCATGTAGCACTAGTAATCCCCTGGTGATCCATGCACCGCTAGTA ATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGCAC TGCTAGTAATCCCCTAGTGATCCATACACCGCTTGTAATCCCCTGGTGAT CCATACACTGCTAGTAATACCCTCGTGATCCATGCACTGTTAGTAATCCC CTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGGACCGCTA GTAATCCCCTGGTGATCCATACACTGCTAGTAATCCCCTGGTGATCCATG CACTGCTAGTAATCCCCTGGTGATCCATACACTGCTAATAATCCCCTGGT GATCCATACACTGCTAATAATCCCCTGGTGATCCATGCACCGCTAGTAAT CCCCTGGTGATCCATACACTGCTAGTAATCCCCTGGTGATCCATGCACTG CTAGTAATCCCCTGGTGATCCATGGACCGCTAGTAATCCCCTGGTGATCC ATGCACTGCTAGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCACCT GGTGATCCATGCACTGCTAGTAATCCCCAGGTGATCCATGGACTGCTAGT AATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCATGCA CTGCTAGTAATCCCCTGGTGATCCATGCACCACTAGTAATCCCCAGGTGA TCCATGCACTGCTAGTAATCCTCTAGTGATCCATGCACTGCTAGACCCCT AGTGATCCATGCAC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding		2493		chr11	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(889): Show CATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCATC CATCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0283 a0001c0004t0001g0283	1	273	0.0037	896	c.107 others(913): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SRXN1_chr20_641615_658200	642198	G G	GGGGGGGG others(889): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGCCAGCGGGGGTGGAGTTGCCTGG TGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGCGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GCGGGGGGGCCCAGCGGGGGTGGAGTTGCCGGGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGCGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGCGGGGGGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	415	0.0024	896	c.65 others(907): Show c.6515_*6516insGGCAACTCCACCCCCGCTGGGCCCCCCCGCAGGC AACTCCACCCCCGCTGGGCCCCCCCGCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCGGCAACTCCACCCCCGC TGGGCCCCCCCGCAGGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCGCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCACCAGGCAACTCCACCCCCGCTGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4416		chr20	TogoVar
TERT_chr5_1248167_1300068	1273665	A A	ACATCAGA others(889): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCA CATCAGACCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCTACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18985.hp2 NA18971.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0336 a0001c0003t0001g0251 a0001c0001t0001g0336 a0001c0003t0001g0251	2	374	0.0053	896	c.228 others(915): Show c.2287-1386_2287-1385insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTTGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	360425	C C	CAGGAGCA others(889): Show CAGGAGCATCAGCTGCTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTC CCGTGGCCCCTCAGCAGGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTC CGACTCTGACGGTCCCGTGGGCCCTCAGCAGGAGCGTCGGCTGCTTTGAC TGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGCAGGAGCG TCGGCTGCTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGCC CCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCG ACGGTCCCGTGGGCTCTCAGCAGGAGCATCAGCTGGTTTGACTGTGGCTG TCGTTCCGACTCTGACGGTCCCGTGGGCCCTCAGGAGGAGCATCAGCTGC TTTGACTGTGGCTGTCATTCTGACTCCGACGGTCCCGTGGCCCCTCAGGA GGAGCATCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCC GTGGGCCCTCAGGAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCG ACTCCGACGGTCCCGTGGGCTCTCAGGAGGAGCATCAGCTGGTTTGACTG TGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTC AGCTGCTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTGGCCCC TCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCGAC GGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTC GTTCTGACTCCGACGGTCCCGTGGGCCCTCAGCAGGAGCATCAGCTGCTT TGACTGTGGCTGTCGTTCCGACTCTGACAGTCCCGTGGGCCCTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0044 a0003c0010t0044	a0003c0010t0044g0138 a0003c0010t0044g0138	1	348	0.0029	896	c.17 others(907): Show c.1774_*1775insCCTGAGGGCCCACGGGACTGTCAGAGTCGGAACG ACAGCCACAGTCAAAGCAGCTGATGCTCCTGCTGAGGGCCCACGGGACCG TCGGAGTCAGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAG GGGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAAGCAGCCG ACGCTCCTGCTGAGGGGCCACGGGACCGTCAGAGTCGGAACGACAGCCAC AGTCAAAGCAGCTGACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTC GGAACGACAGCCACAGTCAAACCAGCTGATGCTCCTCCTGAGAGCCCACG GGACCGTCGGAGTCGGAACGACAGCCACAGTCAAAGCAGCCGACGCTCCT CCTGAGGGCCCACGGGACCGTCAGAGTCGGAACGACAGCCACAGTCAAAC CAGCTGATGCTCCTCCTGAGGGGCCACGGGACCGTCGGAGTCAGAATGAC AGCCACAGTCAAAGCAGCTGATGCTCCTCCTGAGGGCCCACGGGACCGTC AGAGTCGGAACGACAGCCACAGTCAAACCAGCTGATGCTCCTGCTGAGAG CCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAAGCAGCCGAC GCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTAGGAACGACAGCCACAG TCAAAGCAGCCGACGCTCCTGCTGAGGGCCCACGGGACCGTCGGAGTCGG AACGACAGCCACAGTCAAAGCAGCCGACGCTCCTGCTGAGGGCCCACGGG ACCGTCAGAGTCGGAACGACAGCCACAGTCAAACCAGCTGATGCTCCTGC TGAGGGGCCACGGGACCGTCAGAGTCGGAACGACAGCCACAGTCAAAGCA GCTGATGCTCCT	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1321		chr19	TogoVar
TH_chr11_2158929_2176815	2161576	C C	CCAGACCC others(889): Show CCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCTGGGAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTCAGAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAG GACCCCTGTCCTCAGACCCCTGTCCCCATACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	384	0.0026	896	c.26 others(907): Show c.2656_*2657insAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTATGGGGACAGGGGTCT GAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCT GGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGG GTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTCTGAGGACAGGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTCCCAGGGACAGGGGTGTGGGGACAGGGGTCCTGGG GACAGGGGTCTG	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2352		chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAC others(889): Show CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCAC CCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCG CCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCC GCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTC CCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGC AGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCAGCCTCCCCGACGCAC CCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCG CCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCC GCACCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCAGCCTC CCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGC ACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCC CGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCAC CCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCCCACCCTCCCCG CCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCTGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0033 a0001c0002t0014g0033	1	162	0.0062	896	c.519 others(911): Show c.519+787_519+788insAGAGAGGGTGCGGCAGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCAGAG AGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAG GGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGC GGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGGC TGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGG GGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGTCGGGGAGGCTGCGGCGGGGAGGGTGGG GCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAG GGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGC GGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGG TGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTG GGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGG AGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(889): Show ATTTGTGGTTGTGGTATGTGTATGTGTGTTTATGTAGTGTGGGGTGTGTG TAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGTG TGTTTGTGTGTGTGGTATTTGTATGTGGTGTGTATGTACAGTGCGGGGTG TGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTGT GGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTG TGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTT TGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGT GTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGGGGTGTGGTGTGTTCG TGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGT GTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGTGTTTG TGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTAGTGTG TGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTGGGTGT GGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGT TTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTGTTCGT GGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTG TGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTGGGT GTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGGTAT GTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02647.hp2 others(1): Show HG02109.hp2 HG02622.hp1 HG02647.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0307 a0001c0001t0001g0328 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0307 a0001c0001t0001g0328 a0001c0001t0002g0098	4	13	0.3077	896	c.36 others(911): Show c.36-806_*36-805insTGTGGTTGTGGTATGTGTATGTGTGTTTAT GTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTG TATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTATGTGGTGTGT ATGTACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTG TGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGT GTGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATG TGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTG TGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTG GGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAG TGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTG GAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAG TGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGG GGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTG TGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGG GGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGT GTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGT GGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTG TGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGT GGGGGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(889): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGAAAGAG AGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGGAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGG AGGAAGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGAAG GAGGAGAGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02717.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0028 a0001c0001t0001g0029	2	63	0.0317	896	c.53 others(907): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCTCTCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTCCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTC CTCCCCCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCT CCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCC TCCCTCCCTCCCTCTCTTTCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTC CCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCCTT CCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTCCC TCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTCCC TCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
ABR_chr17_998519_1184981	1064447	G G	GACACTGT others(890): Show GACACTGTTGTTACGTGAACTGAGGGCTATACATGTTCCTCTAGACACTG CTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACT GAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCT ATGCATGTTCCTCTAGACGCTGTTGTTACGTGAACTGAGGGCTATGCATG TTCCTCTAGCACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCCA GACACTGTTGGTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTG TTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTG AACTGAGGGTTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATA CATGTTCCTCTAGACACTGCTATTATGTGAACTGAGGGCTATGCATGTTC CTCTAGATACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGA CGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTT GTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAA CTGAGGGCTATGCATGTTCCTCTAGATGCTGTTGTTACGTGAACTGAGGG CTATGCATGTTCCTCTAGATGCTGCTGTTATGTGAACTGAGGGCTATGCA TGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCT CTAGACACTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19240.hp2 HG02280.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0132 a0001c0001t0034g0002 a0001c0001t0001g0132 a0001c0001t0034g0002	2	301	0.0066	897	c.118 others(916): Show c.1182+2629_1182+2630insTCTAGAGGAACATGCATAGCCCTCAG TTCACATAACAGCAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACAT AACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGCA GCATCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGCATCTA GAGGAACATGCATAGCCCTCAGTTCACATAACAGTGTCTAGAGGAACATG CATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCC CTCAGTTCACATAACAACAGCGTCTAGAGGAACATGCATAGCCCTCAGTT CACGTAACAACAGTATCTAGAGGAACATGCATAGCCCTCAGTTCACATAA TAGCAGTGTCTAGAGGAACATGTATAGCCCTCAGTTCACATAACAACAGT GTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGA GGAACATGCATAACCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCA TAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCT CAGTTCACATACCAACAGTGTCTGGAGGAACATGCATAGCCCTCAGTTCA CGTAACAGCAGTGCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAA CAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGCGTC TAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTGGAGGA ACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCA TAGCCCTCAGTTCACATAACAGCAGTGTCTAGAGGAACATGTATAGCCCT CAGTTCACGTAACAACAGTGT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118466	C C	CCTGAGCC others(890): Show CCTGAGCCTGAGTTCCTCCCAGCGTTATTGCCTGAGCCTGAGTTCTCCCC AGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAG TCCCTCCCAGCGTTAACCCTGAGCCTGAGTCCCTCCCAGCGTTAACCCTG AGCCTGAGTTCTCCCCAGCATTATCCCGGAGCCTGAGTCCTCCCCAGCAT TAACCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCT CCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCTTTATCCCTGAGCCT GAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCC TGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCG TTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCCGAGTTCC TCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCC CGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCA GCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGT CCTCCCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTAACCCTGAG CCTGAGTTCTTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTA TCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCC CAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCGCTGAGCCTGA GTTCCTCCCAGCGTTATCTCTGAGCCTGAGTTCTCCCCAGCGTTATCG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04199.hp2 HG02015.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0077 a0001c0001t0030 a0001c0001t0077	a0001c0001t0030g0106 a0001c0001t0077g0290 a0001c0001t0030g0106 a0001c0001t0077g0290	2	335	0.0060	897	c.246 others(914): Show c.246+6716_246+6717insCGATAACGCTGGGGAGAACTCAGGCTCA GAGATAACGCTGGGAGGAACTCAGGCTCAGCGATAACGCTGGGGAGAACT CAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGG GGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGAT AACGCTGGGAAGAACTCAGGCTCAGGGTTAACGCTGGGAGGGACTCAGGC TCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGAA CTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCT GGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGG GCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGTTAACGCTGGGGA GAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAAC GCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGG GATAACGCTGGGGAGAACTCAGGCTCAGGGATAAAGCTGGGGAGAACTCA GGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGG AGAACTCAGGCTCAGGGTTAATGCTGGGGAGGACTCAGGCTCCGGGATAA TGCTGGGGAGAACTCAGGCTCAGGGTTAACGCTGGGAGGGACTCAGGCTC AGGGTTAACGCTGGGAGGGACTCAGGCTCAGGGATAACGCTGGGGAGAAC TCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGCAATAACGCT GGGAGGAACTCAGGCTCAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ATP11A_chr13_112685038_112892168	112872915	T T	TGAGCGGT others(890): Show TGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGC TTTGTCTTCCTGAGCAGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTG AGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCT GAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCT TTGTCTTCTGGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTG AGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCT GAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCT TTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTG AGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCT GAGCGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTGTGAGGTGTGGCTT TGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGGTGTGAGGTGTGGCTTTGATTTCCTGAGCGGTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTGAGTGTTGTGAG GTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGA GTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGCTGTGAG GTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18969.hp1 HG03239.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0031 a0002c0003 a0001c0031 a0002c0003	a0001c0031t0007 a0002c0003t0007 a0001c0031t0007 a0002c0003t0007	a0001c0031t0007g0160 a0002c0003t0007g0186 a0001c0031t0007g0160 a0002c0003t0007g0186	2	252	0.0079	897	c.305 others(914): Show c.3058-625_3058-624insTGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCAGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAG GTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCTGGA GCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAG GTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGA GCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTT GTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAG GTGTGGCTTTGTCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAA CGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTG TCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGG TGTGGCTTTGATTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAG TGGTGTGAGGTGTGGCTTTGTCTCCTGAGTGTTGTGAGGTGTTGCTTTGT CTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGAT GTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGC GGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGCTGTGAGGTGTGGCTTTGT CTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGAGGT GTGGCTTTGTCTTCCTGAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(890): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	296	0.0034	897	c.36 others(908): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGC CCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(890): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGC AGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	296	0.0034	897	c.36 others(908): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
C10orf67_chr10_23197696_23349797	23331548	A A	AGGGAAGG others(890): Show AGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGG AAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGG GAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAAC CGGGACGGGAAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAACCAGGACAGGAACCGGGACAGGAACCG GGAAGGGAAGGGATGGGAACCGATGGGAACCGGGATGGCAACCAGGAAGG GAAGGGACCGGGACGGGAAGGGAAGGAAACCGGGACGGCAACAGAGACAG GAACCGGGAAGGGAAAAGAAGGGAAGAGAACCGGGAAGGGAAGGGAACCG GGACAGGAACCGGGAAGGGAAGGGAAGAGAACAGGGAAGGGAGGGTAGGG GAGGGAAACCGGGAAGGAAGAGGAAGGGGAGGGGAGACCGGGACGGGAAC TGGGACGGAAGGGTAGGGAACCGGGCGGGAACCGGGACGGGAGGGGAAGG GAATGGGGACGAGAAACGGGACGGGAACCAGGACAGGAACCAGAACGGAA ACAGGGAAGGGAAGGGAAGGGAACAGGGACAGGAATCGGGAAGGGAACCG GGACAGGAACCGGAAAGGGAAGGGAACCAGGAAAGGAAAGGAAGGCAAGC GGGACGGGAGCCGGGAAGGCAAGAGAAGGGAACCGGGAAGAGTAAGGAGG AAAACCGGGACGGGAACAGGACGGGAACCGGGAAGGGCAGGGAACCGGGA CAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACCGGGACAGGAACAGG ACGGGAACCGGGAAGGGCAGGGAACCGGCACAGGAAGGAAAGGGAACC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 NA18988.hp2 HG01070.hp1 HG01109.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106	3	12	0.2500	897	c.327 others(914): Show c.327+1513_327+1514insGGTTCCCTTTCCTTCCTGTGCCGGTTCC CTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTT GCCTTCCCGGCTCCCGTCCCGCTTGCCTTCCTTTCCTTTCCTGGTTCCCT TCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTC CCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGT CCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGG TTCCCTACCCTTCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCCT CTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCCT TCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCCC TTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTCC CTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATCG GTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGG TTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCC CGTCCCGGTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTC CCTTCCCTTTTCCCTTCCC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C2CD4C_chr19_400445_414147	404950	C C	CTGAGGGG others(890): Show CTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGG GAACGGGGTCCTGCCCTCAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGA GGGGTGTGGGGGAGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAAC GGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGG TGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGAACGGGGT CCTGCCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTG TGGGGGGGAACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAACGGGGTCC TGCCCTGAGGGGTGTGGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGG GGGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAC GGGGTCCTGCCTTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGG TCTGAGGGGGTACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGG TCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGT GGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCC TGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGG GGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCC TGAGGGGTGTGGGGGAGGGACGGGGTCCTGCCCTGAGGGGTGTGTGGGGG GGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0020 a0001c0001t0020g0020	1	281	0.0036	897	c.21 others(908): Show c.2145_*2146insAGGCAGGACCCCGTCCCCCCCACACCCCTCAGGG CAGGACCCCGTTCCCCCCCACACACCCCTCAGGGCAGGACCCCGTCCCTC CCCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGG CAGGACCCCGTTCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCA CACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGAC CCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCACAC CCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCC CGTACCCCCTCAGACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCT CAAGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCC CCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAAGGCA GGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCCA CACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAAGGCAGGAC CCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCTCCACA CCCCTCAGGGCAGGACCCCGTTCCCCCCTCACACCCCTCAGGGCAGGACC CCGTCCCCCCCACACCCCTCAAGGCAGGACCCCGTCCCCCCCACACCCCT CAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCC CTCCCCCACACCCCTCAAGGCAGGACCCCGTCCCCCCCACACCCCTGAGG GCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCATCCCCCC TCCACACCCCTCA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		494		chr19	TogoVar
C4orf19_chr4_37448925_37598510	37585473	A A	AGGGGAGG others(890): Show AGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAGAGGAGGGGAGA GGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGG AGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGTAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGA GGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGT AGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAG GGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGT TGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAG GGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGG GAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGA GGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGG AGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAG GGAGGGGTGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGA GAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0108 a0001c0001t0050g0108	1	352	0.0028	897	c.-22 others(914): Show c.-22-3365_-22-3364insGAGAGGAGAGATGTTGAGGGAGGGGAGG GGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGG AGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGA GGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTGTTGAGGGAGGGG AGGGTAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGTAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGA GGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAG GGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTAT TGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGG AGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAG GGGAGAGGAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAG GAGAGGTGTTGAGGGAGGGGTGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAG GGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGTGGGGAGGG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(890): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGT ACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0001 a0006c0003t0001	a0006c0003t0001g0165 a0006c0003t0001g0165	1	194	0.0052	897	c.300 others(914): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTGT GTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(890): Show ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCAT AGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0200 a0002c0011t0002g0200	1	103	0.0097	897	c.300 others(914): Show c.300-9309_300-9308insCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCAT GCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGT CGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGTCAGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGA GTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(890): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCC TCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTC TCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0225 a0001c0002t0002g0225	1	2	0.5000	897	c.162 others(918): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC TTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCC CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCC CCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCT CCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
DLGAP2_chr8_732628_1713476	1337418	G G	GGATGATG others(890): Show GGATGATGGTGATGATGATGGTGATGGTGATGATGTTGATGGTGATAACG GTGATGATGTTGATGGTGATGATGGTGATGGTGAGGATGATGGTGATGAT GATGGTGATGGTGATGATGTTGATGGTGATAATGGTGATGATGTTGATGG TGATGATGGTGATGGTGAGAATGATGGGGATGAGGATGATAGTGGTGATG AGGATGGCGATGGTGATGCTGATGATAGTGATGATGGTGCTGGTGATGAT GATGGTGATGGTGATGATGGTAAGGATGATGGGAAAGAGAATGATATTGG TGATGAGGATGGTGATGGTGATGCTGATGACAGTGATGATGGTGATGATG AGGATGATGGTGGTGATGATGATGGTGATGCTGATGATGGTGATGGTGAG GATGATGGTGTTGGTGAGAATGATGGTGATGATGTGACGGTGAGGATGAT GGTGGTAGTGAGGATGATGGTGAGAATGATGGTGAGGAAGATGGTGGTGA GGATAATGGTGATGGTGAGAATGATGGTGAGGATGATGGTGGTGAGGATA ATGGTGATGGTGAGGATGATGACGGTGAGAATGATGATGGTGATGGTGAG GATGATGGTGGTAGTGAGGATGATAATGGTGAGAGTGAGGGTGATGGTGG TGAGGATAATGATGATGGTGAGGATGATGACAGTGAGGATGATGATGATG GTGAGGATGATGGTGGTGAGGATAATGGTGATGATGAGGATGATGGTGGT GAGGATAATGGTGATGGTGAGGATGATGACGGTGAGAATGAAGATGATGG TGATGGTGACGATGATGGTGGTAGTGAGGGTGATGATGGTGAGAATTATG GTGAGGATGATGGTGGTGAGGATGGTGATGGTGATGCTGATGACTGAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp2 HG01361.hp1 HG01496.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0003c0005t0004 a0002c0001t0001 a0003c0005t0004	a0002c0001t0001g0018 a0003c0005t0004g0037 a0002c0001t0001g0018 a0003c0005t0004g0037	2	16	0.1250	897	c.106 others(916): Show c.106+78548_106+78549insATGATGGTGATGGTGATGATGTTGAT GGTGATAACGGTGATGATGTTGATGGTGATGATGGTGATGGTGAGGATGA TGGTGATGATGATGGTGATGGTGATGATGTTGATGGTGATAATGGTGATG ATGTTGATGGTGATGATGGTGATGGTGAGAATGATGGGGATGAGGATGAT AGTGGTGATGAGGATGGCGATGGTGATGCTGATGATAGTGATGATGGTGC TGGTGATGATGATGGTGATGGTGATGATGGTAAGGATGATGGGAAAGAGA ATGATATTGGTGATGAGGATGGTGATGGTGATGCTGATGACAGTGATGAT GGTGATGATGAGGATGATGGTGGTGATGATGATGGTGATGCTGATGATGG TGATGGTGAGGATGATGGTGTTGGTGAGAATGATGGTGATGATGTGACGG TGAGGATGATGGTGGTAGTGAGGATGATGGTGAGAATGATGGTGAGGAAG ATGGTGGTGAGGATAATGGTGATGGTGAGAATGATGGTGAGGATGATGGT GGTGAGGATAATGGTGATGGTGAGGATGATGACGGTGAGAATGATGATGG TGATGGTGAGGATGATGGTGGTAGTGAGGATGATAATGGTGAGAGTGAGG GTGATGGTGGTGAGGATAATGATGATGGTGAGGATGATGACAGTGAGGAT GATGATGATGGTGAGGATGATGGTGGTGAGGATAATGGTGATGATGAGGA TGATGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACGGTGAGAATG AAGATGATGGTGATGGTGACGATGATGGTGGTAGTGAGGGTGATGATGGT GAGAATTATGGTGAGGATGATGGTGGTGAGGATGGTGATGGTGATGCTGA TGACTGATGATGATGGTGATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1337418	G G	GGATGATG others(890): Show GGATGATGGTGATGATGATGGTGATGGTGATGATGTTGATGGTGTTAACG GTGATGATGTTGATGGTGATGATGGTGATGGTGAGGATGATGGTGATGAT GATGGTGATGGTGATGATGTTGATGGTGATAATGGTGATGATGTTGATGG TGATGATGGTGATGGTGAGAATGATGGGGATGAGGATGATAGTGGTGATG AGGATGGCGATGGTGATGCTGATGATAGTGATGATGGTGCTGGTGATGAT GATGGTGATGGTGATGATGGTAAGGATGATGGGAAAGAGAATGATATTGG TGATGAGGATGGTGATGGTGATGCTGATGACAGTGATGATGGTGATGATG AGGATGATGGTGGTGATGATGATGGTGATGCTGATGATGGTGATGGTGAG GATGATGGTGTTGGTGAGAATGATGGTGATGATGTGACGGTGAGGATGAT GGTGGTAGTGAGGATGATGGTGAGAATGATGGTGAGGAAGATGGTGGTGA GGATAATGGTGATGGTGAGAATGATGGTGAGGATGATGGTGGTGAGGATA ATGGTGATGGTGAGGATGATGACGGTGAGAATGATGATGGTGATGGTGAG GATGATGGTGGTAGTGAGGATGATAATGGTGAGAGTGAGGGTGATGGTGG TGAGGATAATGATGATGGTGAGGATGATGACAGTGAGGATGATGATGATG GTGAGGATGATGGTGGTGAGGATAATGGTGATGATGAGGATGATGGTGGT GAGGATAATGGTGATGGTGAGGATGATGACGGTGAGAATGAAGATGATGG TGATGGTGACGATGATGGTGGTAGTGAGGGTGATGATGGTGAGAATTATG GTGAGGATGATGGTGGTGAGGATGGTGATGGTGATGCTGATGACTGAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG01891.hp2 others(16): Show HG00639.hp2 HG01891.hp1 HG01891.hp2 HG02071.hp2 HG02074.hp1 HG02258.hp2 HG02647.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03710.hp1 HG03710.hp2 NA18906.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0009 others(7): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0001 a0002c0006 a0003c0005 a0004c0008	a0001c0002t0006 a0001c0002t0010 a0001c0003t0006 others(16): Show a0001c0002t0006 a0001c0002t0010 a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0001c0003t0017 a0001c0003t0024 a0001c0009t0012 a0001c0010t0025 a0001c0011t0015 a0001c0012t0004 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0019 a0002c0001t0020 a0002c0006t0021 a0003c0005t0002 a0004c0008t0016	a0001c0002t0006g0011 a0001c0002t0010g0008 a0001c0003t0006g0033 others(16): Show a0001c0002t0006g0011 a0001c0002t0010g0008 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0003t0024g0003 a0001c0009t0012g0006 a0001c0010t0025g0012 a0001c0011t0015g0001 a0001c0012t0004g0036 a0002c0001t0002g0032 a0002c0001t0003g0021 a0002c0001t0005g0035 a0002c0001t0019g0031 a0002c0001t0020g0024 a0002c0006t0021g0014 a0003c0005t0002g0030 a0004c0008t0016g0028	19	33	0.5758	897	c.106 others(916): Show c.106+78548_106+78549insATGATGGTGATGGTGATGATGTTGAT GGTGTTAACGGTGATGATGTTGATGGTGATGATGGTGATGGTGAGGATGA TGGTGATGATGATGGTGATGGTGATGATGTTGATGGTGATAATGGTGATG ATGTTGATGGTGATGATGGTGATGGTGAGAATGATGGGGATGAGGATGAT AGTGGTGATGAGGATGGCGATGGTGATGCTGATGATAGTGATGATGGTGC TGGTGATGATGATGGTGATGGTGATGATGGTAAGGATGATGGGAAAGAGA ATGATATTGGTGATGAGGATGGTGATGGTGATGCTGATGACAGTGATGAT GGTGATGATGAGGATGATGGTGGTGATGATGATGGTGATGCTGATGATGG TGATGGTGAGGATGATGGTGTTGGTGAGAATGATGGTGATGATGTGACGG TGAGGATGATGGTGGTAGTGAGGATGATGGTGAGAATGATGGTGAGGAAG ATGGTGGTGAGGATAATGGTGATGGTGAGAATGATGGTGAGGATGATGGT GGTGAGGATAATGGTGATGGTGAGGATGATGACGGTGAGAATGATGATGG TGATGGTGAGGATGATGGTGGTAGTGAGGATGATAATGGTGAGAGTGAGG GTGATGGTGGTGAGGATAATGATGATGGTGAGGATGATGACAGTGAGGAT GATGATGATGGTGAGGATGATGGTGGTGAGGATAATGGTGATGATGAGGA TGATGGTGGTGAGGATAATGGTGATGGTGAGGATGATGACGGTGAGAATG AAGATGATGGTGATGGTGACGATGATGGTGGTAGTGAGGGTGATGATGGT GAGAATTATGGTGAGGATGATGGTGGTGAGGATGGTGATGGTGATGCTGA TGACTGATGATGATGGTGATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(890): Show AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAG GGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGG AGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAG GAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGA GGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGAGGGAG GAGGAGGAGGGGGAGGGAGGAGGGGGAGGGAGGAGGGGGAGGGAGGAGGG GGAGGGAGGAGGGGGAGGGAGGAGGGGGAGGGAGGAGGGGGAGGGAGGAG GAGGGGGGAGGGAGGAGGAGGGGGGAGGGAGGAGGGGGAGGGAGGAGGAG GGGGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0070 a0070	a0070c0211 a0070c0211	a0070c0211t0001 a0070c0211t0001	a0070c0211t0001g0135 a0070c0211t0001g0135	1	98	0.0102	897	c.118 others(916): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCC TCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCC TCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCCCCCTCCTCCTCCCTCCCCCTCCTCCCTCCC CCCTCCTCCTCCCTCCCCCCTCCTCCTCCCTCCCCCTCCTCCCTCCCCCT CCTCCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCC CTCCTCCCTCCCCCTCCTCCTCCTCCCTCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTC CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCC TCCTCCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCCTCCTCCCCCTCC TCCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCC TCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTC CCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCC TCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar

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