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
NEDD4L_chr18_58039226_58406539	58209310	T T	TCGTCCTC others(615): Show TCGTCCTCTACCTCCTCCTCCTCCACCACCTCCATCTGCTCCTCCTCCTC CCCCTCCACCTCCCCTCCGCCTCCTCCTCCCTCTCCTCCTCCCCCTCCAC CTCCACCTCTTCCTCCCCACCTCCTCCCCCACCCCCTCCTTCTCAACCTC CGCCTCCCCTTCCTCCTCATCATCCTCCACCTCCACCTCCCCCTGTTCCT CCTCCTCCTCCTCCACCTCCACCCCCTCCTCCTCATCCTCCACCCCCTCC TCCTCCTCCACCTCCAACTCCACCTCCTCATCTGCACCTCCACGTCCTCC TCCCCCTCCACCTCCTCCTCCACCTGCACCTCCTCAACCTCCTCCTCCTC CTCCACCTCCCCCTCCTCCCCCTCCTCCTTAACCTCCACCTCCACCTCCT CCTCCTCATCCTCCACCTCCACCTCCTCCTCCCCCTGGTCCTTCCCCTCC TCCTCCTCCACCTCCTCCTCCTCATCCTCCATCCCCTCCTCCTCCACTTC TGCCTCCACCTCCTCCTCCTCATCCTGCACTTCCCCCTCCTCCTCCCCCT CCTCCACCTCCTCCTCCTCATCCTCCACCCGCTCCTCCTCATCCTCCACC TCCACCTCCTCTTCCACCTCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0091	1	115	0.0087	622	c.123 others(641): Show c.123-36116_123-36115insGTCCTCTACCTCCTCCTCCTCCACCA CCTCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCTCCGCCTCCTCCT CCCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCCACCTCCTCCC CCACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTCATCATCCTCC ACCTCCACCTCCCCCTGTTCCTCCTCCTCCTCCTCCACCTCCACCCCCTC CTCCTCATCCTCCACCCCCTCCTCCTCCTCCACCTCCAACTCCACCTCCT CATCTGCACCTCCACGTCCTCCTCCCCCTCCACCTCCTCCTCCACCTGCA CCTCCTCAACCTCCTCCTCCTCCTCCACCTCCCCCTCCTCCCCCTCCTCC TTAACCTCCACCTCCACCTCCTCCTCCTCATCCTCCACCTCCACCTCCTC CTCCCCCTGGTCCTTCCCCTCCTCCTCCTCCACCTCCTCCTCCTCATCCT CCATCCCCTCCTCCTCCACTTCTGCCTCCACCTCCTCCTCCTCATCCTGC ACTTCCCCCTCCTCCTCCCCCTCCTCCACCTCCTCCTCCTCATCCTCCAC CCGCTCCTCCTCATCCTCCACCTCCACCTCCTCTTCCACCTCCTCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEXN_chr1_77883624_77948895	77887912	T T	TTTCTTCT others(615): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCCTCTTCCTC TTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTT CCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	176	0.0057	622	c.-90 others(631): Show c.-900_-899insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(615): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0199 a0001c0005t0001g0199	1	110	0.0091	622	c.902 others(637): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535944	A A	AGGGGAGC others(615): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGG TGCAGGGTGGGAGTGGGTGGAGG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0309 a0001c0007t0009g0309	1	299	0.0033	622	c.140 others(639): Show c.140+8079_140+8080insCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACC CATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCA CCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGC ACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGC ACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCC ACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACC CACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OPCML_chr11_132409981_133537501	133437674	G G	GCTCACCT others(615): Show GCTCACCTCTCCCCTCTCAACCCCGCTGACCTCTCCCCTTTGCAACCCCT CTCACCTCTCCCCTCTCAACCCCTCTCACCTCTCCCCTCTCAACCCCGCT CACCTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCAACCCCGCTCAC CTCTCCCCTCTGCAACCCCTCTCACCTCTCCCCTCTCAACCCCTCTCACC TCTCCCCTCTCAACCCCTCTCACGTCTCCCCTCTCAACCCCTCTCACCTC TCCCCTCTAAACCCCGCTCACCTCTCCCCTCTGCAACCCCGCTCACCTCT CCCCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCC CCTCTCAACCCCGCTCACCTCTCCCCTCTCAACCCCGCTCACCTCTCCCC TCTCAACCCCGCTCACCTCTCCCCTTTGCAACCCCTCTCACCTCTCCCCT CTCAACCCCTCTCACCTCTCCCCTCAACCCCGCTCACCTCTCCCCTCTCA ACCCCTCTCACCTCTCCCCTCAACCCCGCTCACCTCTCCCCTCTCAACCC CTCTCACCTCTCCCCTCAACCCCGCTCACCTCTCCCCTCTGCAACCCCTC TCACCTCTCCCCTCTCAACCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	65	0.0154	622	c.61+ others(639): Show c.61+94589_61+94590insAGGGGTTGAGAGGGGAGAGGTGAGAGGG GTTGCAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTT GAGAGGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTTGAGA GGGGAGAGGTGAGCGGGGTTGAGGGGAGAGGTGAGAGGGGTTGAGAGGGG AGAGGTGAGAGGGGTTGCAAAGGGGAGAGGTGAGCGGGGTTGAGAGGGGA GAGGTGAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGA GGTGAGCGGGGTTGAGAGGGGAGAGGTGAGCGGGGTTGAGAGGGGAGAGG TGAGCGGGGTTGCAGAGGGGAGAGGTGAGCGGGGTTTAGAGGGGAGAGGT GAGAGGGGTTGAGAGGGGAGACGTGAGAGGGGTTGAGAGGGGAGAGGTGA GAGGGGTTGAGAGGGGAGAGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAG CGGGGTTGAGGGGAGAGGTGAGAGGGGTTGCAGAGGGGAGAGGTGAGCGG GGTTGAGAGGGGAGAGGTGAGAGGGGTTGAGAGGGGAGAGGTGAGAGGGG TTGCAAAGGGGAGAGGTCAGCGGGGTTGAGAGGGGAGAGGTGAG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(615): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGAGGGAGGCGGGGGGGGGGGGGGG GGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGC CGCCCCTACTGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCC AGGAGGGAGGTGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCCGG GAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	59	0.0169	622	c.155 others(641): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCACCTCCCTCCTGGA CGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCAGTAGGGGCGGCC GGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCC CCCCCCCCCCCCGCCTCCCTCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(615): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATAACATATATGTATT ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATACATGTATTACATATATGTAATACAT ATATAACATACATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	622	c.70 others(633): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TAACATATATGTATTACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATACATGTATTAC ATATATGTAATACATATATAACATACATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(615): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATGTATTA CATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	122	0.0082	622	c.70 others(633): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(615): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGA CACTGCGAGTGTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 NA18612.hp1 others(2): Show HG02040.hp1 HG02071.hp1 NA18612.hp1 NA18982.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0002c0002t0003	a0001c0001t0001g0011 a0001c0001t0003g0028 a0001c0001t0003g0029 others(2): Show a0001c0001t0001g0011 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0033g0027 a0002c0002t0003g0070	5	308	0.0162	622	c.-19 others(643): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(615): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGA CACTGCGAGTGTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA20805.hp2 HG01981.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0039 a0002c0002t0003g0057 a0002c0002t0003g0039 a0002c0002t0003g0057	2	305	0.0066	622	c.-19 others(643): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNT_chr21_46319156_46450769	46404099	C C	CGGCGCGT others(615): Show CGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGT GCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA ATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCG TGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAA CACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCG GTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAGGTGCCCACGCGGCGCGT GCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGC GGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTG CCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTG TGTGGTGCCCACGCGGCGCGTGCTTGGTGAATGAACACAGCGTGGGAGAA TTGTGTGTGTGTGGTGCCCACGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0003 a0004c0023t0003	a0004c0023t0003g0094 a0004c0023t0003g0094	1	223	0.0045	622	c.511 others(641): Show c.5115+1639_5115+1640insCAGCGTGGGAGAATTGTGTGTGTGGT GCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGT GTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGA ATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAACACAGCG TGGGAGAATTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCGGTGAATGAA CACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGCGCGTGCTCG GTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGTGGTGCCCACGCGGC GCGTGCTCGGTGAATGAACACAGCGTGGGAGAGGTGCCCACGCGGCGCGT GCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTGCCCACGC GGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTGTGTGGTG CCCACGCGGCGCGTGCTCGGTGAATGAACACAGCGTGGGAGAATTGTGTG TGTGGTGCCCACGCGGCGCGTGCTTGGTGAATGAACACAGCGTGGGAGAA TTGTGTGTGTGTGGTGCCCACGTGGCGCGTGCTCGGTGAATGAACA	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	27/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(615): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACC CGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCC CTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	226	0.0044	622	c.15 others(633): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(615): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACC CGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCC CTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0090 a0003c0003t0014g0090	1	226	0.0044	622	c.15 others(633): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(615): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTG CCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0096 a0004c0006t0001g0096	1	5	0.2000	622	c.15 others(633): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PIGN_chr18_62036164_62192056	62039600	C C	CCATGTTT others(615): Show CCATGTTTAGGGCCCCATCCAGAGTGCCGCACCCCATGATTAGGGCCCAT TCAGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGGGTGCCGCACCCCA TGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCC AGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGAGTGCCGCACCCCATG TTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTAGGGCCCCTTCCAG GGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCAACTCATGTT TAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGG TGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTT AGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGAGT GCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTA GGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGC CGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGG GCCCCATCCAGGGTGCCGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG02723.hp1 HG02895.hp1 others(10): Show HG01516.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03942.hp1 HG04228.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0002c0002 a0001c0003 a0001c0010 a0002c0002	a0001c0003t0002 a0001c0003t0015 a0001c0003t0022 others(2): Show a0001c0003t0002 a0001c0003t0015 a0001c0003t0022 a0001c0010t0002 a0002c0002t0015	a0001c0003t0002g0022 a0001c0003t0002g0056 a0001c0003t0002g0097 others(10): Show a0001c0003t0002g0022 a0001c0003t0002g0056 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0015g0062 a0001c0003t0022g0034 a0001c0003t0022g0035 a0001c0010t0002g0048 a0001c0010t0002g0049 a0002c0002t0015g0085 a0002c0002t0015g0086	13	286	0.0455	622	c.56 others(633): Show c.5634_*6255dupATGTGCGGCACCCTGGATGGGGCCCTAAACATGG GGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCT GGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGG TGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGG GGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGT GCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGG GCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTG CGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGC CCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCG GCACTCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCC TAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGC ACCCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGAATGGGCCCTAA TCATGGGGTGCGGCACTCTGGATGGGGCCCTAAACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1563		chr18	TogoVar
PIGN_chr18_62036164_62192056	62039600	C C	CCATGTTT others(615): Show CCATGTTTAGGGCCCCATCCAGAGTGCCGCACCCCATGATTAGGGCCCAT TCAGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGGGTGCCGCACCCCA TGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCC AGGGTGCCGCACCCCATGTTTAGGGCCCATCCAGAGTGCCGCACCCCATG TTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTAGGGCCCCTTCCAG GGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCAACTCATGTT TAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGG TGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTT AGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGAGT GCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTA GGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGC CGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGG GCCCCATCCAGGGTGCCGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA20129.hp1 HG02630.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0045 a0001c0003t0002g0046	2	275	0.0073	622	c.62 others(633): Show c.6255_*6256insATGTGCGGCACCCTGGATGGGGCCCTAAACATGG GGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGGTGCGGCACCCTGGCT GGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGG TGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGG GGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGT GCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGG GCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTG CGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGC CCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCG GCACTCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCC TAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGC ACCCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGAATGGGCCCTAA TCATGGGGTGCGGCACTCTGGATGGGGCCCTAAACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1563		chr18	TogoVar
PIGN_chr18_62036164_62192056	62039954	G G	GCACATCA others(615): Show GCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGG CCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGAGTGCCG CACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCATGTTTAGGGC CCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAGGGTGCCGCA ACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCC CATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCCAGAGTGCCGCAC CCCATGATTAGGGCCCATTCAGGGTGCCGCACCCCATGTTTAGGGCCCAT CCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACATC ATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCATCC AGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCCAT GTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCCAG GGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGT TTAGGGCCCCATCCAGGGTGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03195.hp1 HG01243.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0004 a0001c0003t0016g0068 a0001c0003t0016g0004 a0001c0003t0016g0068	2	340	0.0059	622	c.59 others(633): Show c.5901_*5902insTGGCACCCTGGATGGGGCCCTAAACATGGGGTGC GGCACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCTGGGCC CTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGGTGCGG CATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGGGCCCT AAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCA CCCTGGATGGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGCCCTAA ACATGGGGTGCGGCACCCTGAATGGGCCCTAATCATGGGGTGCGGCACTC TGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAAC ATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCT GGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACAT GGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGG ATGGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATG GGGTGCGGCACCCTGGATGGGGCCCTAAACATGATGTG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1209		chr18	TogoVar
PIGN_chr18_62036164_62192056	62039992	C C	CCATGTTT others(615): Show CCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCA TCCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCC CATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGC CAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCA TGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCC AGAGTGCCGCACCCCATGATTAGGGCCCATTCAGGGTGCCGCACCCCATG TTTAGGGCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGG GTGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTT TAGGGCCCATCCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGAT GCCGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTA GGGCCCAGCCAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGC CGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCACACATCATGTTTAGG GCCCCATCCAGGGTGCCGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0004 a0001c0003t0016g0004	1	327	0.0031	622	c.58 others(633): Show c.5863_*5864insATGTGCGGCACCCTGGATGGGGCCCTAAACATGA TGTGTGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGCACCCTGGAA GGGGCCCTAAACATGAGTTGCGGCACCCTGGCTGGGCCCTAAACATGGGG TGCGGCACCCTGGAAGGGGCCCTAAACATGGGGTGCGGCATCGTCGATGG GGCCCTAAACATGGGGTGCGGCACTCTGGATGGGCCCTAAACATGGGGTG CGGCACCCTGGATGGGGCCCTAAACATGATGTGCGGCACCCTGGATGGGG CCCTAAACATGGGGTGCGGCACCCTGGATGGGCCCTAAACATGGGGTGCG GCACCCTGAATGGGCCCTAATCATGGGGTGCGGCACTCTGGATGGGGCCC TAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGC ACCCTGGAAGGGGCCCTAAACATGAGTTGCGGCACCCTGGCTGGGCCCTA AACATGGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGGGGTGCGGCAT CGTCGATGGGGCCCTAAACATGGGGTGCGGCACTCTGGATGGGGCCCTAA ACATGGGGTGCGGCACCCTGGATGGGGCCCTAAACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1171		chr18	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGCGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	2	0.5000	622	c.-25 others(633): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATC TCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCC ACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCC ACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCG TCTCCCACCACTTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCA CCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCA TCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCA CATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCA CCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCA CCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTG TCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGAAGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	2	0.5000	622	c.-25 others(633): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATC TCCTTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCC ACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCC ACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCG TCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCA CCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCA TCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCA CATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCA CCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCA CCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTG TCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00621.hp2 others(54): Show HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG01928.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02451.hp1 HG02818.hp2 HG03017.hp1 HG03239.hp1 HG03654.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18965.hp2 NA18969.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp2 NA19081.hp1 NA19090.hp1 NA19090.hp2	a0002 a0005 a0015 a0002 a0005 a0015	a0002c0002 a0005c0008 a0015c0022 a0002c0002 a0005c0008 a0015c0022	a0002c0002t0001 a0005c0008t0001 a0015c0022t0001 a0002c0002t0001 a0005c0008t0001 a0015c0022t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0032 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0032 a0005c0008t0001g0016 a0015c0022t0001g0037	57	58	0.9828	622	c.-25 others(633): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATC TCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCC ACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCC ACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCG TCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCA CCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCA TCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCA CATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCA CCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCA CCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTG TCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(615): Show GGTGGGAGGTGGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAG GTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	2	0.5000	622	c.-25 others(633): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATC TCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCC ACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCC ACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCG TCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCA CCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCA TCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCA CATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCA CCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCA CCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTG TCTCCCACTACCTCCCACCATCTCCCACCACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PTPRH_chr19_55176247_55214501	55207808	T T	TCCTGGGT others(615): Show TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGG GAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGG GGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGC CTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGA GGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGG ACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACT CCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGG AGGAGGGCCTGGGGGCCTGGGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(113): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02273.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03041.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18967.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18998.hp2 NA19007.hp2 NA19011.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0015 a0020 a0023 a0027 a0032 a0035	a0001c0001 a0001c0020 a0001c0041 others(29): Show a0001c0001 a0001c0020 a0001c0041 a0001c0114 a0002c0002 a0002c0005 a0002c0016 a0002c0026 a0003c0003 a0003c0097 a0003c0111 a0004c0008 a0004c0104 a0005c0039 a0005c0090 a0005c0091 a0006c0019 a0007c0012 a0007c0043 a0008c0009 a0009c0015 a0009c0028 a0011c0027 a0012c0022 a0012c0037 a0013c0092 a0015c0042 a0020c0082 a0023c0103 a0027c0083 a0032c0046 a0035c0081	a0001c0001t0001 a0001c0001t0008 a0001c0020t0001 others(31): Show a0001c0001t0001 a0001c0001t0008 a0001c0020t0001 a0001c0041t0001 a0001c0114t0001 a0002c0002t0002 a0002c0005t0002 a0002c0016t0002 a0002c0026t0002 a0003c0003t0003 a0003c0097t0003 a0003c0111t0003 a0004c0008t0002 a0004c0104t0002 a0005c0039t0001 a0005c0090t0001 a0005c0091t0001 a0006c0019t0001 a0007c0012t0001 a0007c0043t0001 a0008c0009t0002 a0008c0009t0003 a0009c0015t0001 a0009c0028t0001 a0011c0027t0001 a0012c0022t0003 a0012c0037t0004 a0013c0092t0003 a0015c0042t0001 a0020c0082t0001 a0023c0103t0002 a0027c0083t0001 a0032c0046t0001 a0035c0081t0003	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(89): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0008g0047 a0001c0020t0001g0208 a0001c0041t0001g0248 a0001c0114t0001g0264 a0002c0002t0002g0001 a0002c0002t0002g0005 a0002c0002t0002g0029 a0002c0002t0002g0188 a0002c0002t0002g0193 a0002c0002t0002g0196 a0002c0002t0002g0200 a0002c0002t0002g0204 a0002c0002t0002g0207 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0005t0002g0274 a0002c0016t0002g0231 a0002c0016t0002g0279 a0002c0026t0002g0191 a0002c0026t0002g0192 a0003c0003t0003g0011 a0003c0003t0003g0026 a0003c0003t0003g0030 a0003c0003t0003g0036 a0003c0003t0003g0169 a0003c0003t0003g0214 a0003c0003t0003g0217 a0003c0003t0003g0219 a0003c0097t0003g0221 a0003c0111t0003g0280 a0004c0008t0002g0226 a0004c0008t0002g0237 a0004c0104t0002g0246 a0005c0039t0001g0284 a0005c0090t0001g0203 a0005c0091t0001g0211 a0006c0019t0001g0010 a0006c0019t0001g0185 a0007c0012t0001g0177 a0007c0012t0001g0178 a0007c0012t0001g0181 a0007c0043t0001g0179 a0007c0043t0001g0180 a0008c0009t0002g0283 a0008c0009t0003g0232 a0009c0015t0001g0166 a0009c0015t0001g0167 a0009c0015t0001g0222 a0009c0015t0001g0223 a0009c0028t0001g0249 a0011c0027t0001g0201 a0012c0022t0003g0285 a0012c0037t0004g0301 a0013c0092t0003g0215 a0015c0042t0001g0175 a0015c0042t0001g0176 a0020c0082t0001g0182 a0023c0103t0002g0238 a0027c0083t0001g0183 a0032c0046t0001g0171 a0035c0081t0003g0043	116	332	0.3494	622	c.52- others(635): Show c.52-610_52-609insCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGAC CCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGC CCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAG GAATCCAGACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACCCC AGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCC TCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAAT CCAGACCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAAC CTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCA GACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCT CCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACC AGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGG	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55207842	G G	GACCTCTG others(615): Show GACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTG AGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCT GGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGG AGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGG GGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCT GGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGG AGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGTC TGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAG GTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGA CTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGA GGGAGGAGGGGCTGGGGGTCTCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp2 HG01928.hp2 others(6): Show HG00544.hp2 HG00738.hp2 HG01928.hp2 HG01978.hp2 HG02155.hp2 NA18612.hp1 NA18971.hp1 NA18984.hp2 NA19000.hp1	a0001 a0002 a0029 a0001 a0002 a0029	a0001c0001 a0002c0002 a0029c0100 a0001c0001 a0002c0002 a0029c0100	a0001c0001t0001 a0002c0002t0002 a0029c0100t0001 a0001c0001t0001 a0002c0002t0002 a0029c0100t0001	a0001c0001t0001g0013 a0001c0001t0001g0229 a0002c0002t0002g0001 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0229 a0002c0002t0002g0001 a0002c0002t0002g0197 a0002c0002t0002g0202 a0002c0002t0002g0212 a0029c0100t0001g0235	9	375	0.0240	622	c.52- others(635): Show c.52-644_52-643insTGAGACCCCCAGCCCCTCCTCCCTCAGACCCA GGCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCC CAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCC CTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAG CCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCA GACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGA GACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCCC TCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAAC CAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGAC CCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGCCCCTAC TCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAG GAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGT	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55207916	C C	CTCCTGGG others(615): Show CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTC CTGAGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGG AGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGG GCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGATTCCTGG GTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCT GGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCT GAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTGAGGGAGGAGGGG CTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGAC TCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGG GAGTAGGGGCTGGGGGCCTGGAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0021 a0021	a0021c0085 a0021c0085	a0021c0085t0001 a0021c0085t0001	a0021c0085t0001g0187 a0021c0085t0001g0187	1	374	0.0027	622	c.52- others(635): Show c.52-718_52-717insATCCAGGCCCCCAGCCCCTACTCCCTCAGACC CAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCC CCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTC CCTCAGACCCAGGCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGACCCAGG AGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCA ACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTC AGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATC CAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCT CTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGAC CCAGGAATCCAGACCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGG CCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCA GGAATCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGA	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208091	G G	GGGTCTGG others(615): Show GGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTC TGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAG GAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGT CTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGA GGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGG ACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTT GGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTC CTGGGTCTGAGGGAGTAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGG AGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTG AGTCTGAGGGAGGAGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0242 a0008c0009t0003g0242	1	376	0.0027	622	c.52- others(635): Show c.52-893_52-892insTCCAGCCCCTCCTCCCTCAGACTCAGGAGTCC AGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGAC CCAGGAATCCAGACCCCCAGCCCCTACTCCCTCAGACCCAGGAGTCCAGA CCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCC TCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAG GCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCC AGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCC TCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACCCCCAGC CCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAG ACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAG ACCCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGACC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRT_chr20_42067756_43194906	43095827	A A	ACCCTCCT others(615): Show ACCCTCCTTCTCTCTCCCGTCTCTCTTCTCTCCTCTTCTCTCTCCACCCT CCCTCTCTCTCTTTTCCCCTCTCCCACCTCTCTCCTCCCCCACCCACCTT CTGTCACTCCCTCTCCCTCTCTCTCTCCTGTCTCTCTTCTCTCTCTCCTT CTCTCTCTGCCCTCTCCCTCTCTTTTCCTCTCTCTCCCACACTTCTCTCC TCCCCCCTTTCTCTCCCCCACCCACCTTCTCTCTCTCTCCCTCTCTCTCT TCTCTCTTTCCACCCTCCCTCTCTCCTTCCACCCTCCCTCTCTTTTTCCC TTCTCTCTCCCTACCACCTCTCGCCTCCCTCTTTCTCTTCCCCAACCACC TCTCTCTCTCTTCCTCACTCTCCTCTCTTCTCTCTTTCCACCCTCCCTCT CTTCCCCTCTCTCCCCACCTCTCTCCTCCTCCTCTTTCTCTCCTCCCACC CACTTGCTCTCTCCCTCCCTGTCTCCCTTCCCTTTCCCTCTCCCTCTCCC TCTCTCTCTCTCCTTCTCTCTTTCCACCCTCCCTCTCTTCCCCTCTCTGT CCCCACCTCTCTCCTCCCCCTCTTTCTCTCCTCCCACACGCCTGCTCTCT CCCTCCCTCTCTCCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0025 a0002c0001t0025	a0002c0001t0025g0002 a0002c0001t0025g0002	1	11	0.0909	622	c.88+ others(639): Show c.88+93818_88+93819insAAAGGAAAGGGAGAGAGGGAGGGAGAGA GCAGGCGTGTGGGAGGAGAGAAAGAGGGGGAGGAGAGAGGTGGGGACAGA GAGGGGAAGAGAGGGAGGGTGGAAAGAGAGAAGGAGAGAGAGAGAGGGAG AGGGAGAGGGAAAGGGAAGGGAGACAGGGAGGGAGAGAGCAAGTGGGTGG GAGGAGAGAAAGAGGAGGAGGAGAGAGGTGGGGAGAGAGGGGAAGAGAGG GAGGGTGGAAAGAGAGAAGAGAGGAGAGTGAGGAAGAGAGAGAGAGGTGG TTGGGGAAGAGAAAGAGGGAGGCGAGAGGTGGTAGGGAGAGAGAAGGGAA AAAGAGAGGGAGGGTGGAAGGAGAGAGGGAGGGTGGAAAGAGAGAAGAGA GAGAGGGAGAGAGAGAGAAGGTGGGTGGGGGAGAGAAAGGGGGGAGGAGA GAAGTGTGGGAGAGAGAGGAAAAGAGAGGGAGAGGGCAGAGAGAGAAGGA GAGAGAGAAGAGAGACAGGAGAGAGAGAGGGAGAGGGAGTGACAGAAGGT GGGTGGGGGAGGAGAGAGGTGGGAGAGGGGAAAAGAGAGAGAGGGAGGGT GGAGAGAGAAGAGGAGAGAAGAGAGACGGGAGAGAGAAGGAGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43095827	A A	ACCCTCCT others(615): Show ACCCTCCTTCTCTCTCCCGTCTCTCTTCTCTCCTCTTCTCTCTCCACCCT CCCTCTCTCTCTTTTCCCCTCTCCCACCTCTCTCCTCCCCCACCCACCTT CTGTCACTCCCTCTCCCTCTCTCTCTCCTGTCTCTCTTCTCTCTCTCCTT CTCTCTCTGCCCTCTCCCTCTCTTTTCCTCTCTCTCCCACACTTCTCTCC TCCCCCCTTTCTCTCCCCCACCCACCTTCTCTCTCTCTCCCTCTCTCTCT TCTCTCTTTCCACCCTCCCTCTCTCTTTCCACCCTCCCTCTCTTTTTCCC TTCTCTCTCCCTACCACCTCTCGCCTCCCTCTTTCTCTTCCCCAACCACC TCTCTCTCTCTTCCTCACTCTCCTCTCTTCTCTCTTTCCACCCTCCCTCT CTTCCCCTCTCTCCCCACCTCTCTCCTCCTCCTCTTTCTCTCCTCCCACC CACTTGCTCTCTCCCTCCCTGTCTCCCTTCCCTTTCCCTCTCCCTCTCCC TCTCTCTCTCTCCTTCTCTCTTTCCACCCTCCCTCTCTTCCCCTCTCTGT CCCCACCTCTCTCCTCCCCCTCTTTCTCTCCTCCCACACGCCTGCTCTCT CCCTCCCTCTCTCCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03209.hp2 NA19030.hp2 others(1): Show HG00741.hp1 HG03209.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0002c0015 a0004c0006 others(1): Show a0001c0002 a0002c0015 a0004c0006 a0005c0017	a0001c0002t0002 a0002c0015t0001 a0004c0006t0008 others(1): Show a0001c0002t0002 a0002c0015t0001 a0004c0006t0008 a0005c0017t0017	a0001c0002t0002g0058 a0002c0015t0001g0013 a0004c0006t0008g0054 others(1): Show a0001c0002t0002g0058 a0002c0015t0001g0013 a0004c0006t0008g0054 a0005c0017t0017g0022	4	14	0.2857	622	c.88+ others(639): Show c.88+93818_88+93819insAAAGGGAAGGGAGAGAGGGAGGGAGAGA GCAGGCGTGTGGGAGGAGAGAAAGAGGGGGAGGAGAGAGGTGGGGACAGA GAGGGGAAGAGAGGGAGGGTGGAAAGAGAGAAGGAGAGAGAGAGAGGGAG AGGGAGAGGGAAAGGGAAGGGAGACAGGGAGGGAGAGAGCAAGTGGGTGG GAGGAGAGAAAGAGGAGGAGGAGAGAGGTGGGGAGAGAGGGGAAGAGAGG GAGGGTGGAAAGAGAGAAGAGAGGAGAGTGAGGAAGAGAGAGAGAGGTGG TTGGGGAAGAGAAAGAGGGAGGCGAGAGGTGGTAGGGAGAGAGAAGGGAA AAAGAGAGGGAGGGTGGAAAGAGAGAGGGAGGGTGGAAAGAGAGAAGAGA GAGAGGGAGAGAGAGAGAAGGTGGGTGGGGGAGAGAAAGGGGGGAGGAGA GAAGTGTGGGAGAGAGAGGAAAAGAGAGGGAGAGGGCAGAGAGAGAAGGA GAGAGAGAAGAGAGACAGGAGAGAGAGAGGGAGAGGGAGTGACAGAAGGT GGGTGGGGGAGGAGAGAGGTGGGAGAGGGGAAAAGAGAGAGAGGGAGGGT GGAGAGAGAAGAGGAGAGAAGAGAGACGGGAGAGAGAAGGAGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43095827	A A	ACCCTCCT others(615): Show ACCCTCCTTCTCTCTCCCGTCTCTCTTCTCTCCTCTTCTCTCTCCACCCT CCCTCTCTCTCTTTTCCCCTCTCCCACCTCTCTCCTCCCCCACCCACCTT CTGTCACTCCCTCTCCCTCTCTCTCTCCTGTCTCTCTTCTCTCTCTCCTT CTCTCTCTGCCCTCTCCCTCTCTTTTCCTCTCTCTCCCACACTTCTCTCC TCCCCCCTTTCTCTCCCCCACCCACCTTCTCTCTCTCTCCCTCTCTCTCT TCTCTCTTTCCACCCTCCCTCTCTCTTTCCACCCTCCCTCTCTTTTTCCC TTCTCTCTCCCTACCACCTCTCGCCTCCCTCTTTCTCTTCCCCAACCACC TCTCTCTCTCTTCCTCACTCTCCTCTCTTCTCTCTTTCCACCCTCCCTCT CTTCCCCTCTCTCCTCACCTCTCTCCTCCTCCTCTTTCTCTCCTCCCACC CACTTGCTCTCTCCCTCCCTGTCTCCCTTCCCTTTCCCTCTCCCTCTCCC TCTCTCTCTCTCCTTCTCTCTTTCCACCCTCCCTCTCTTCCCCTCTCTGT CCCCACCTCTCTCCTCCCCCTCTTTCTCTCCTCCCACACGCCTGCTCTCT CCCTCCCTCTCTCCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0043 a0001c0003t0002g0043	1	11	0.0909	622	c.88+ others(639): Show c.88+93818_88+93819insAAAGGGAAGGGAGAGAGGGAGGGAGAGA GCAGGCGTGTGGGAGGAGAGAAAGAGGGGGAGGAGAGAGGTGGGGACAGA GAGGGGAAGAGAGGGAGGGTGGAAAGAGAGAAGGAGAGAGAGAGAGGGAG AGGGAGAGGGAAAGGGAAGGGAGACAGGGAGGGAGAGAGCAAGTGGGTGG GAGGAGAGAAAGAGGAGGAGGAGAGAGGTGAGGAGAGAGGGGAAGAGAGG GAGGGTGGAAAGAGAGAAGAGAGGAGAGTGAGGAAGAGAGAGAGAGGTGG TTGGGGAAGAGAAAGAGGGAGGCGAGAGGTGGTAGGGAGAGAGAAGGGAA AAAGAGAGGGAGGGTGGAAAGAGAGAGGGAGGGTGGAAAGAGAGAAGAGA GAGAGGGAGAGAGAGAGAAGGTGGGTGGGGGAGAGAAAGGGGGGAGGAGA GAAGTGTGGGAGAGAGAGGAAAAGAGAGGGAGAGGGCAGAGAGAGAAGGA GAGAGAGAAGAGAGACAGGAGAGAGAGAGGGAGAGGGAGTGACAGAAGGT GGGTGGGGGAGGAGAGAGGTGGGAGAGGGGAAAAGAGAGAGAGGGAGGGT GGAGAGAGAAGAGGAGAGAAGAGAGACGGGAGAGAGAAGGAGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(615): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGG GGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18982.hp2 NA18970.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0163 a0001c0001t0001g0115 a0001c0001t0001g0163	2	42	0.0476	622	c.809 others(639): Show c.809-2991_809-2990insTGCTGGGGCGTCAGGGAGGTGCAGGGAA GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTG GGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCT GGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGG AGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RPH3AL_chr17_207389_357807	304160	A A	AGATGGGG others(615): Show AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCCTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAAGT TTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGG AGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTC AGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTAT TGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTA CTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTG GGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACC GTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAA TAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGA GGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTCAGGAA AGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGC AGTGACCGTGTCTCAGGAAAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	128	0.0078	622	c.351 others(641): Show c.351+15259_351+15260insCTCTTTCCTGAGACACGGTCACTGCT CAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTC CTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTCC CTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTA AAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGT CACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCAC CTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTAC AGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACGGTCACTGCTCAATA ATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAG ACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC TCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACT TCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAGGGTCACTG CTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(615): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATATAATTTTAC AACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02559.hp1 HG02572.hp2 others(3): Show HG01952.hp1 HG02559.hp1 HG02572.hp2 HG02976.hp1 HG03041.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0018 a0001c0001t0001 a0001c0001t0005 a0001c0002t0018	a0001c0001t0001g0076 a0001c0001t0001g0101 a0001c0001t0001g0115 others(3): Show a0001c0001t0001g0076 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0005g0073 a0001c0001t0005g0089 a0001c0002t0018g0096	6	126	0.0476	622	c.59- others(639): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATACACACA CACACACACACACACACACATATACATACACATATATATGTGTGTATATA TACATGTATATATATGTATGTATATATGTGTATATATACATGTATATATG TATGTATATATACGTGTATATTATGTATATATATACACATGATATATATG TATGTATATATCATGTATATATATACATATATGTGTATATATACACGATA TATATGTGTATATATCATGTATATATATACATGTATACAATATATTATAT ATACATATATATTATATACATGTATATATACCTGTATACAATATATTATA TATACGTGTATATAATATATATACACGTATATATATTGTATACACGTATA TATAATATATACTTTATATATAATATATACATGTATATATATACTATATA TTATATATTAATATATACATGTATAATATATACATGTATATATTATATAT ACATATATATGTATATATAATATATACATATATGTACATATAATATACAT GTCTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(615): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTATATATATATATATATATATATATATATATATATATATAATTTTAC AACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03579.hp1 HG02809.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0122 a0001c0001t0005g0074 a0001c0001t0001g0122 a0001c0001t0005g0074	2	122	0.0164	622	c.59- others(639): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATACACACACA CACACACACACACACACACATATACATACACATATATATGTGTGTATATA TACATGTATATATATGTATGTATATATGTGTATATATACATGTATATATG TATGTATATATACGTGTATATTATGTATATATATACACATGATATATATG TATGTATATATCATGTATATATATACATATATGTGTATATATACACGATA TATATGTGTATATATCATGTATATATATACATGTATACAATATATTATAT ATACATATATATTATATACATGTATATATACCTGTATACAATATATTATA TATACGTGTATATAATATATATACACGTATATATATTGTATACACGTATA TATAATATATACTTTATATATAATATATACATGTATATATATACTATATA TTATATATTAATATATACATGTATAATATATACATGTATATATTATATAT ACATATATATGTATATATAATATATACATATATGTACATATAATATACAT GTCTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SART1_chr11_65956734_65985137	65971120	T T	TGAGGAGG others(615): Show TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGGTGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGA AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp1 others(25): Show HG00099.hp2 HG00140.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp2 HG01361.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 NA18945.hp1 NA18951.hp2 NA18961.hp2 NA18969.hp1 NA18974.hp2 NA18985.hp1 NA19004.hp2 NA19011.hp1 NA19063.hp2 NA19087.hp2 NA19088.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0074 others(15): Show a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0098 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0152 a0002c0001t0001g0154	28	372	0.0753	622	c.157 others(641): Show c.1572+3300_1572+3301insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGGTGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(615): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	260	0.0038	622	c.166 others(639): Show c.1663-933_1663-932insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(615): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCATGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	226	0.0044	622	c.166 others(639): Show c.1663-142_1663-141insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCATGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(615): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCT TTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0146 a0001c0001t0007g0146	1	40	0.0250	622	c.77- others(639): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTC CCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC ACCCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCTCCC others(615): Show CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACC TCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCACCCCTTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCACCCC TTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCACCCTCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCATCCCCTCCCCCCCTCCCCACCCCTTCCCCCCTC CCCCCTCCCCTCCCCCCTCCCCACCCCTCCTTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0029 a0002c0002t0010g0029	1	40	0.0250	622	c.77- others(639): Show c.77-45386_77-45385insTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCACCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCACCCCTTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCCCACCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCACCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCCCCTC CCCACCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTCCTT CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCTCCC others(615): Show CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACC TCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCCACCCCTTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCACCCC TTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCACCCTCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCATCCCCTCCCCCCCTCCCCACCCCTTCCCCCCTC CCCCCTCCCCTCCCCCCTCCCCACCCCTCCTTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0008	1	45	0.0222	622	c.22+ others(639): Show c.22+36325_22+36326insTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCACCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCACCCCTTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCCCACCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCACCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCCCCTC CCCACCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTCCTT CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	434405	T T	TGTGAGAT others(615): Show TGTGAGATCATGAGTGAATGAGACCGTGAGATCATGAGTCTGTGAGTGAG ATCATGAGTGAGTGAGATCGTGAGTGAGGTGAGTGAGATCATGAGTGAGA TCGTGAGTCTGTGAGATTGTGAGTCTGTGAGTGAGTGAGATCATGAGATT GTGAGTCTGTGAGATCGTGAGTCTGTGAGATCGTGAGTGAGTCTGTGAAT GAGATCATGAAATCATGAGTGAGATCGTGAGTGAGATCGGGAGTGAGTCT GTAAGTGAGATCATGAGATCATGAGTGAGATCGTGAGTGAGATCGGGAGT TAGTGAGTCTGTGAGTGAGACCATGAGATCATAAATGAGATCGTGAGTGA GATCGGGAGTTAGTGAGTCTGTGAGTGAGACCATGAGATCATAAATGAGA TCGTGAGTGAGAGAGATCGTGAGTGAGTGAAATCGTGAGTGAGATTATGA GTGAGATCGTGAGTGAATGAGATCGTGAGTCTGTGAGACAGATCGTGAGT GAGATCATGAGTGAATGAGATCGTGAGATCATGAGTGAGTGAGATCGTGA GTGAGATCGTGAGTCTGTGAGTGAGTGAGATCGTGAGTCAGATCGTGAGA TAGTGAGATCGTGAGTCAGGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02922.hp2 others(2): Show HG02572.hp1 HG02818.hp1 HG02922.hp2 HG03540.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0008 a0001c0001 a0001c0005 a0003c0008	a0001c0001t0006 a0001c0005t0006 a0003c0008t0006 a0001c0001t0006 a0001c0005t0006 a0003c0008t0006	a0001c0001t0006g0042 a0001c0001t0006g0048 a0001c0001t0006g0052 others(2): Show a0001c0001t0006g0042 a0001c0001t0006g0048 a0001c0001t0006g0052 a0001c0005t0006g0008 a0003c0008t0006g0186	5	210	0.0238	622	c.111 others(639): Show c.1110+303_1110+304insTCACCTGACTCACGATCTCACTATCTCA CGATCTGACTCACGATCTCACTCACTCACAGACTCACGATCTCACTCACG ATCTCACTCACTCATGATCTCACGATCTCATTCACTCATGATCTCACTCA CGATCTGTCTCACAGACTCACGATCTCATTCACTCACGATCTCACTCATA ATCTCACTCACGATTTCACTCACTCACGATCTCTCTCACTCACGATCTCA TTTATGATCTCATGGTCTCACTCACAGACTCACTAACTCCCGATCTCACT CACGATCTCATTTATGATCTCATGGTCTCACTCACAGACTCACTAACTCC CGATCTCACTCACGATCTCACTCATGATCTCATGATCTCACTTACAGACT CACTCCCGATCTCACTCACGATCTCACTCATGATTTCATGATCTCATTCA CAGACTCACTCACGATCTCACAGACTCACGATCTCACAGACTCACAATCT CATGATCTCACTCACTCACAGACTCACAATCTCACAGACTCACGATCTCA CTCATGATCTCACTCACCTCACTCACGATCTCACTCACTCATGATCTCAC TCACAGACTCATGATCTCACGGTCTCATTCACTCATGATCTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1098278	C C	CTAACCCT others(615): Show CTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGACC CCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAG GCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCAC CAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC TCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCC TCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCC CCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACACCC AGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCAC GCCCAGGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCT GCACACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCTTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0003 a0001c0031t0003	a0001c0031t0003g0007 a0001c0031t0003g0007	1	36	0.0278	622	c.125 others(639): Show c.125-4031_125-4030insAGAAGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGG GTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCA GAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGCTG GGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGA GGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAG CAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTGGG CATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGTCT GGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTTA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098506	A A	ATGCCCAG others(615): Show ATGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCC TCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGC CCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCC AGCCCCCTTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCAC GCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACC CTCTGCACGTCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCT AACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCC TTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGC CCCCCTCTAACCTTCTGCACACCCAGCCCCCTTCTAACCCTCTGCTCACC CAGCCCCCCTCTAACCCTCTGCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	99	0.0101	622	c.125 others(639): Show c.125-4259_125-4258insAGCAGAGGGTTAGAGGGGGGCTGGGTGA GCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAAGGTTAGAGGGGGGCTGG GTGAGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAAGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGG GGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGACGTGCAGAGGGTTA GAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGG GTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCA GAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGTG AGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTG GGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGG GCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098506	A A	ATGCCCAG others(615): Show ATGCCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCC TCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGC CCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCC AGCCCCCTTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCAC GCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACC CTCTGCACGTCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCT AACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCC TTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGC CCCCCTCTAACCTTCTGCACACCCAGCCCCCTTCTAACCCTCTGCTCACC CAGCCCCCCTCTAACCCTCTGCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	1	99	0.0101	622	c.125 others(639): Show c.125-4259_125-4258insAGCAGAGGGTTAGAGGGGGGCTGGGTGA GCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAAGGTTAGAGGGGGGCTGG GTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAAGGGGG CTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGG GGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGACGTGCAGAGGGTTA GAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGG GTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCA GAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAAGGGGGCTGGGTG AGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTG GGCGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGG GCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(615): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATATTATAATATATAATATATAATATATTATAATATATAATA TATAATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAAAATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAAAATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATATATA TTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	161	0.0062	622	c.17 others(641): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATTATATAT TATATATTATAATATATTATATATTATATATTATAATATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATATTATATA TTATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(615): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATATTATAATATATAATA TATAATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATTATAT TTTATAATATATAAAATATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAATATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATATATA TTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	161	0.0062	622	c.17 others(641): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATATTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATATTTTATATATTATAAAATA TAATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAATATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATTATATAT TATATATTATAATATATAATATATTATATATTATAAAATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATATTATATA TTATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	965285	A A	ACCCCAAT others(615): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGT CCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTG GACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0095 a0002c0003t0001g0095	1	177	0.0056	622	c.72+ others(639): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
STK38L_chr12_27239286_27330959	27311587	T T	TATAAAAT others(615): Show TATAAAATTTTCCAGTCTATAACATTTTCACATGATAGTATCTCTAGTAA TTATGTGTCCGAGAAATCAGTGGCAAAATCCCCAAAAGTTACACAAATTT GCTTTAGCTAACATTTATAGATATGGTAGAGGTTTTATATTATAACAATA ATATAACATAAAGTTACTATAATTGTTACTATTTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTCCTTTCTTTTTTTTTTTTATTATACTCTAAGT TTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGT GCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATA TCTCCCAATGCTATCCCTCCCCCCTCCCCCCGACCCCACCACAGTCCCCA GAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCC CACCTATGAGTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGT TTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATAT GAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCC ACATTTTCTTAATCCAGTCTATC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0264 a0001c0001t0017g0264	1	370	0.0027	622	c.394 others(637): Show c.394-775_394-774insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT CCTTTCTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGC ACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCT CCCCCCTCCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTT CCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGATTA TGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTT TCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTAT GGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGT CTATCATAAAATTTTCCAGTCTATAACATTTTCACATGATAGTATCTCTA GTAATTATGTGTCCGAGAAATCAGTGGCAAAATCCCCAAAAGTTACACAA ATTTGCTTTAGCTAACATTTATAGATATGGTAGAGGTTTTATATTATAAC AATAATATAACATAAAGTTACTATAATTGTTACTATTTCTTT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
TECTA_chr11_121096243_121196490	121185558	G G	GAATGCTT others(615): Show GAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCA GATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTA ATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAAT GCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGT AGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGT TCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAA TGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTCAGTGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGA ATGAGTAGGGAAAGAAGATGTTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0305 a0001c0003t0002g0305	1	319	0.0031	622	c.600 others(641): Show c.6000-2240_6000-2239insCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTG CTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185956	G G	GAATGAGT others(615): Show GAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAG ATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAA AGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	171	0.0058	622	c.600 others(641): Show c.6000-1783_6000-1782insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTGAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGA AAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(615): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCTGTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	111	0.0090	622	c.924 others(639): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAACAGAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGA CAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar

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