Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ABCB11_chr2_168915781_169036324	168975252	T T	TAAATATA others(983): Show TAAATATATAAATATATAAATATTTATATATTTATAAATATATAAATATT TATATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTATATA TTTATAGATAAATATATATATATAAATATTTATATATTTATAGATAAATA TATAAATATATATATATTTATATATTTATAGATAAATATATAAATATATA AATATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGA TAAATATATAAATATTTATATATTTATCTATAAATATATAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0023 a0001c0022t0001g0023	1	153	0.0065	990	c.130 others(1009): Show c.1308+1324_1308+1325insTTATATATTTATAGATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATAT TTATCTATAAATATTTATATATTTATATATTTATCTATAAATATATAAAT ATATATATATTTATATATTTATCTATAAATATATAAATATTTATATATAT ATATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATATAAATATTTATATATTTATAAATATATAAATATTTAT ATATTTATATATTT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TAAATATA others(983): Show TAAATATATAAATATATAAATATTTATTTATTTATAAATATATAAATATA TAAATATTTATATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTATATATTTATAGATAAATATATATATATAAATATT TATATATTTATAGATAAATATATAAATATATATATATTTATATATTTATA GATAAATATATAAATATATAAATATTTATAGATAAATATATAAATATATA AATATTTATATATTTATCGATAAATATATAAATATTTATATATTTATCGA TAAATATATAAATATTTATATATTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0170 a0001c0002t0021g0170	1	153	0.0065	990	c.130 others(1009): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCGATAAATATATAAATATTTATATATTTATCGAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATTTATAT ATTTATATATTTATCTATAAATATATAAATATATATATATTTATATATTT ATCTATAAATATATAAATATTTATATATATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATATAAATATTTATATATTTATATATTTATAAATAAATAAATATTTAT ATATTTATATATTT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TAAATATA others(983): Show TAAATATATAAATATTTATATATTTATAAATATATAAATATATAAATATT TATATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATA TGTAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTATATATTTATAGATAAATATATATATATAAATATTTATATATT TATAGATAAATATATAAATATATATATATTTATATATTTATAGATAAATA TATAAATATATATATATTTATATATTTATAGATAAATATATAAATATATA AATATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGA TAAATATATAAATATTTATATATTTATCTATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0009 a0001c0015t0009	a0001c0015t0009g0294 a0001c0015t0009g0294	1	153	0.0065	990	c.130 others(1009): Show c.1308+1324_1308+1325insTTATATATTTATAGATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATAT TTATCTATAAATATTTATATATTTATATATTTATCTATAAATATATAAAT ATATATATATTTATATATTTATCTATAAATATATAAATATATATATATTT ATATATTTATCTATAAATATATAAATATTTATATATATATATTTATCTAT AAATATATAAATATTTATATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTACATATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATATAAATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATATATTTATAAATATATAA ATATTTATATATTT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975324	T T	TATAAATA others(983): Show TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTATATATTTATAGATAAATATATATATATAAA TATTTATATATTTATAGATAAATATATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATATAAATATTTATAGATAAATATATAAATA TATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATTTA TCGATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TATATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	271	0.0037	990	c.130 others(1009): Show c.1308+1252_1308+1253insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATCGATAAATATATAAATATTTATATATTTATCTATAAAT ATATAAATATTTATATATTTATATATTTATCTATAAATATTTATATATTT ATATATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCT ATAAATATATAAATATTTATATATATATATTTATCTATAAATATATAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975324	T T	TATAAATA others(983): Show TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTATATATTTATAGATAAATATATATATATAAA TATTTATATATTTATAGATAAATATATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATATAAATATTTATAGATAAATATATAAATA TATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATTTA TCTATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATT TATATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	271	0.0037	990	c.130 others(1009): Show c.1308+1252_1308+1253insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATAGATAAATATATAAATATTTATATATTTATCTATAAAT ATATAAATATTTATATATTTATATATTTATCTATAAATATTTATATATTT ATATATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCT ATAAATATATAAATATTTATATATATATATTTATCTATAAATATATAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(983): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTAAATATTTATAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0004 a0001c0066t0004	a0001c0066t0004g0280 a0001c0066t0004g0280	1	160	0.0063	990	c.130 others(1009): Show c.1308+1032_1308+1033insCTATAAATATTTAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTAT		ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27						chr2	TogoVar
AHNAK2_chr14_104932253_104983374	104952301	A A	AGGCTGAA others(983): Show AGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGA GACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCAAGGCCTTG ATGGACTTGCCTGGGGCCGATACCCCGAACGATGGCATCTTGAACTTGGG CATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACA GGTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGATG TCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTC CGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGG GGCCCTTGATGTCCACTTTGGGCATCTTGAAACTGGGCATCTGCACCTTG GGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGAACGTGGCCCTCCAGGAG TTTCACGTCCACCTGGCCAGCCTGGACCTTCAGGTCGGTGGAAGGGGGCT GAATGCTGAGGTCAGTGGCCTTCAGGTCCCCCTGCATGGAGGGGAGACTC ACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCATGGCCTCGATGGA CTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGAACTTGGGCATTT TGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAAGGACAGGTCC CCCTCCAACTGTGCACTATCCAGCTTGGCTCTCCGAGCCTGGACGTCCAC CTCGACGCTGGGCAGAGACACCTCGACATCGGGGACTCTCACTTCCACCT TGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCCC TTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAA GTGCCCTTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCA CATCCACCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01255.hp2 HG01255.hp2	a0050 a0050	a0050c0106 a0050c0106	a0050c0106t0002 a0050c0106t0002	a0050c0106t0002g0250 a0050c0106t0002g0250	1	262	0.0038	990	c.314 others(999): Show c.3149_3150insCGCTTCTACTGACCTGAAGGTCCAGGCTGACCAGGT GGATGTGAAGCTCCCGGAGGGCCACCTGCCCGAGGGAGCTGGCCTTAAAG GGCACTTGCCCAAGGTGGAGATGCCCAGTTTCAAGATGCCCAAAGTGGAC CTCAAGGGCCCCCAGGTGGACATCAAGGGCCCCAAGCTGGACCTAAAAGA CCCCAAGGTGGAAGTGAGAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCG TCGAGGTGGACGTCCAGGCTCGGAGAGCCAAGCTGGATAGTGCACAGTTG GAGGGGGACCTGTCCTTGGCCGACAAGGATGTGACTGCCAAAGACAGCAG GTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTTGGGGTGTCTGCCCCAG GCAAGTCCATCGAGGCCATGGTGGATGTGTCTGCACCCAAAGTGGAGGCC GACGTGAGTCTCCCCTCCATGCAGGGGGACCTGAAGGCCACTGACCTCAG CATTCAGCCCCCTTCCACCGACCTGAAGGTCCAGGCTGGCCAGGTGGACG TGAAACTCCTGGAGGGCCACGTTCCCGAGGGAGCCGGCCTCAAAGGGCAC CTGCCCAAGGTGCAGATGCCCAGTTTCAAGATGCCCAAAGTGGACATCAA GGGCCCCCAGGTGGACGTCAAGGGCCCCAAGCTGGACCTGAAAAGCCCCA AGGCGGAAGTCACAGCCCCTGATGTGGAGGTGTCTCTGCCCAGCGTGGAG GTGGACATCGAGGCCCCGGGAGCCAAGCTGGACAGTGCGCGGCTGGAGGG GGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAGCAGGTTCA AAATGCCCAAGTTCAAGATGCCATCGTTCGGGGTATCGGCCCCAGGCAAG TCCATCAAGGCCTTGGTGGATGTGTCTGCACCCAAAGTGGAGGCCGACGT GAGTCTCCCCTCCATGCAGGGGGACCTGAAGACCACTGACCTCAGCATTC AGCC	p.Pro others(1005): Show p.Pro1050_Ala1051insAlaSerThrAspLeuLysValGlnAlaAsp GlnValAspValLysLeuProGluGlyHisLeuProGluGlyAlaGlyLe uLysGlyHisLeuProLysValGluMetProSerPheLysMetProLysV alAspLeuLysGlyProGlnValAspIleLysGlyProLysLeuAspLeu LysAspProLysValGluValArgValProAspValGluValSerLeuPr oSerValGluValAspValGlnAlaArgArgAlaLysLeuAspSerAlaG lnLeuGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAsp SerArgPheLysMetProLysPheLysMetProSerPheGlyValSerAl aProGlyLysSerIleGluAlaMetValAspValSerAlaProLysValG luAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAlaThrAsp LeuSerIleGlnProProSerThrAspLeuLysValGlnAlaGlyGlnVa lAspValLysLeuLeuGluGlyHisValProGluGlyAlaGlyLeuLysG lyHisLeuProLysValGlnMetProSerPheLysMetProLysValAsp IleLysGlyProGlnValAspValLysGlyProLysLeuAspLeuLysSe rProLysAlaGluValThrAlaProAspValGluValSerLeuProSerV alGluValAspIleGluAlaProGlyAlaLysLeuAspSerAlaArgLeu GluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAspSerAr gPheLysMetProLysPheLysMetProSerPheGlyValSerAlaProG lyLysSerIleLysAlaLeuValAspValSerAlaProLysValGluAla AspValSerLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSe rIleGlnPro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3286/18335	3149/17388	1050/5795			chr14	TogoVar
ALDH7A1_chr5_126536841_126600219	126584671	A A	AAAAAAAA others(983): Show AAAAAAAAAAAAGGTTGGCAGGAAAAATCTCTAAGGAGGTAATATTGAAG CTGAAACCTGAAGAATGGGAAAAGTAAGCCATAGGAATATTCTTCCCAGG GATAAGGAAAAAACATATAAGAGGGATCCATGGAAAATAAAAGGGGCTGA CTGGGAAGACCAGTATGTCTAAAGCTAGAAGCTTGTAAGGTGTTGGAATC TTACTCCAGGTGCAATGTGAAGTCTTGAATGTCTTTTAAGGTGCAGAATA AGAGGATTTGCTTTATCTTTTAATATCGCTATGTGATAGGTAGAGGATAC ATTGAAGGGGAAAAGAGTAGAAGCAGGGAGATCAATTAAGAATGTATTAT AGGCCAGGCGCAGTGGTACATGCCTGTAATCCCAGGACTTCGGGAGGCCG AGGTGGGTGGATCACCTGAGGTCAGCAGATCAAGACCAGCCTGGCCAACA CGGGGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTTGTG GTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTAAGGCAGGAGAATCAC TGGAACCCGGGAGGCGGAGGTTGCAGTGAAACGAGATCATGCCACTGCAC TCCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAGATTATAGTGACTTAGTCTTAAGATTGCAGTGGTGGCCGGGCGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCA CAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCT CTACTAAAAATACAAAAAATTAGCAGGGCGTGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGT GGAGTTTGCAATAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCATC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0330 a0001c0001t0007g0330	1	328	0.0030	990	c.313 others(1005): Show c.313-660_313-659insCTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGATGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTTA TTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCTGCTAATTTTTTGT ATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCACCACTGCAATCTTAAGACTAAGTCA CTATAATCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTGTTG CCCAGGCTGGAGTGCAGTGGCATGATCTCGTTTCACTGCAACCTCCGCCT CCCGGGTTCCAGTGATTCTCCTGCCTTAGCCTCTCAAGTAGCTGGGATTA CAGGTGCCCACCACAACGTCCTGCTAATTTTTGTATTTTTAGTAGAGACG AGGTTTCCCCGTGTTGGCCAGGCTGGTCTTGATCTGCTGACCTCAGGTGA TCCACCCACCTCGGCCTCCCGAAGTCCTGGGATTACAGGCATGTACCACT GCGCCTGGCCTATAATACATTCTTAATTGATCTCCCTGCTTCTACTCTTT TCCCCTTCAATGTATCCTCTACCTATCACATAGCGATATTAAAAGATAAA GCAAATCCTCTTATTCTGCACCTTAAAAGACATTCAAGACTTCACATTGC ACCTGGAGTAAGATTCCAACACCTTACAAGCTTCTAGCTTTAGACATACT GGTCTTCCCAGTCAGCCCCTTTTATTTTCCATGGATCCCTCTTATATGTT TTTTCCTTATCCCTGGGAAGAATATTCCTATGGCTTACTTTTCCCATTCT TCAGGTTTCAGCTTCAATATTACCTCCTTAGAGATTTTTCCTGCCAACCT TTTTTTTTTT		ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	3/17						chr5	TogoVar
BCOR_chrX_40046251_40102958	40048031	G G	GGTGGGTG others(983): Show GGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGACCAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGG CACGCACCTGTAATCCCAGCTACTCAGGAGGCAGGAGAATCACTTGAACC TGAGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCTGTTGCACTCCAGCC TGGGAGACAAAGCGAGACTCCATCTCAAAAAAAAAAAAAGTTTTCAGTTT TCTGTCCTTGGGGTAAATCCACAAGAGATGAAACAATGTATTCTGTTGTT GTTTTGTTGGTTTTTGTTTTTTTTTTCTGAGATGGAGTTTCACTCGTTGC CCAGGCTGTAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGCCTC CCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGGTAGCTGGGATTAC AGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGG GTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATC TGCCCACCTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGC GCCCGGCCTGTATTCTGTTTTAAAGTCGCTTGAAAACAGTTTTTCTGTGT GGTACCAACTAGATATATAGGTTTATTAATTGCATTTTGCTTTTTGATTT CTAGGCATTACATTTGGTTTATAATTATGTCAATTCCAAAGTCAAATCTA TACTCTGAGAATACTCAAATAGAACTTCCATTTGTTTCCCTCATGCCTGT TCTTTTCTTTTCCCAAAGCTATTTTTTAAAGCCTTTATTATTTCATTTTT TAAACAAAGAAGATATGCATATATACTTTAAGTCAAACTGTGCACCTTCC TTCACCTTGTTTTTCAGTTAATGATTAATAATCAGTCAGTTGGCTAGGTG TGCTGGCTCATGCCTGTAATCCAGCACTTTGGGAGGCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	165	0.0061	990	c.40 others(1001): Show c.4077_*4078insGTTGGCCTCCCAAAGTGCTGGATTACAGGCATGA GCCAGCACACCTAGCCAACTGACTGATTATTAATCATTAACTGAAAAACA AGGTGAAGGAAGGTGCACAGTTTGACTTAAAGTATATATGCATATCTTCT TTGTTTAAAAAATGAAATAATAAAGGCTTTAAAAAATAGCTTTGGGAAAA GAAAAGAACAGGCATGAGGGAAACAAATGGAAGTTCTATTTGAGTATTCT CAGAGTATAGATTTGACTTTGGAATTGACATAATTATAAACCAAATGTAA TGCCTAGAAATCAAAAAGCAAAATGCAATTAATAAACCTATATATCTAGT TGGTACCACACAGAAAAACTGTTTTCAAGCGACTTTAAAACAGAATACAG GCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAG GTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATG GAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCA CATGCCTGTAATCCCAGCTACCAGGGAGGCTGAGGCAGGAGAATCACTTG AACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTAC AGCCTGGGCAACGAGTGAAACTCCATCTCAGAAAAAAAAAACAAAAACCA ACAAAACAACAACAGAATACATTGTTTCATCTCTTGTGGATTTACCCCAA GGACAGAAAACTGAAAACTTTTTTTTTTTTTGAGATGGAGTCTCGCTTTG TCTCCCAGGCTGGAGTGCAACAGCACAATCTTGGCTCACTGCAACCTCCG CCTCTCAGGTTCAAGTGATTCTCCTGCCTCCTGAGTAGCTGGGATTACAG GTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGG TTTCACCATGTTGGTCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCC ACCCAC		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding					3219		chrX	TogoVar
C7orf50_chr7_992006_1143247	1070458	A A	ACCACCCC others(983): Show ACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGA ATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGGGGAAAAG ATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTAGACATGG GAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGAT CCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTG CTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTT GTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATC CCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTC CTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACC TTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAA CACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAGATAAC ACAGTAGAAAAAAAAAAAAAAACAATAAATAAAGTCTCACGTTCGTTCTT CTCCAGGTCTCTCAGTCCATTCTTTGGGTTTGGACGGGTGAGTTTGTTTC TCACATCAGCACAGGGGAGAGCCCAGTCCCCAGGTGCAGTTCCCTGCACA CACATGCACATGCACACACGTGTGCACAGGGCACGTGTACACATGGGCAC ACGCACGCACGCGCACACACATGCACGCACATACGCACACCGCACGCACA CGGACACCTGCACACGCGCACACGCATGCATGCACATACGCACACAACGC GTGCACAAGGACACAGGCACACACATGCACACACGTGCACACATGCACGC ACATACGGACACAATGCATGCACACGGACACACATGCACACACACGGACA CATGCACACACATGCATGCACATACACGCGTGCACAGACGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01168.hp1 others(3): Show HG00741.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG02615.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0126 a0001c0001t0007g0131 a0001c0001t0007g0143 others(3): Show a0001c0001t0007g0126 a0001c0001t0007g0131 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0007g0147	6	312	0.0192	990	c.129 others(1009): Show c.129+56798_129+56799insGCGTCTGTGCACGCGTGTATGTGCAT GCATGTGTGTGCATGTGTCCGTGTGTGTGCATGTGTGTCCGTGTGCATGC ATTGTGTCCGTATGTGCGTGCATGTGTGCACGTGTGTGCATGTGTGTGCC TGTGTCCTTGTGCACGCGTTGTGTGCGTATGTGCATGCATGCGTGTGCGC GTGTGCAGGTGTCCGTGTGCGTGCGGTGTGCGTATGTGCGTGCATGTGTG TGCGCGTGCGTGCGTGTGCCCATGTGTACACGTGCCCTGTGCACACGTGT GTGCATGTGCATGTGTGTGCAGGGAACTGCACCTGGGGACTGGGCTCTCC CCTGTGCTGATGTGAGAAACAAACTCACCCGTCCAAACCCAAAGAATGGA CTGAGAGACCTGGAGAAGAACGAACGTGAGACTTTATTTATTGTTTTTTT TTTTTTTTCTACTGTGTTATCTTTTTTTTTTTTTAATTTATTTTTTTATT GATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGA CAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGG TTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGA TTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTC AAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAAC CCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGG TCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAAC AAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACC ATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAA AGCCGCCATTGTCATTCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCT CCCAGACGGGGTGG		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12775121	T T	TTGATCAG others(983): Show TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCACTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAC TGATCAGGTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCACT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCACTG ATCAGGTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGACTGTGA GAAGGCTCAGGCACTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGA TCAGGTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGACTGTGAG AAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGAT CAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGA AGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATC AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCACTGATCA GGTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGACTGTGAGAAG GCTCAGGCACTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGACTGTGAGAAGGC TCAGGCACTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0031 a0001c0001t0020g0031	1	214	0.0047	990	c.565 others(1007): Show c.565+5387_565+5388insCTGATCAGGTGAGACTGTGAGAAGGCTC AGGCACTGATCAGGTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCACTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCACTGATCAGGTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCACTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAC TGATCAGGTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGACTGT GAGAAGGCTCAGGCACTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTG ATCAGGTGAGACTGTGAGAAGGCTCAGGCACTGATCAGGTGAGACTGTGA GAAGGCTCAGGCACTGATCAGGTGAGACTGTGAGAAGGCTCAGGCACTGA TCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAG AAGGCTCAGGCA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882544	C C	CGGGGAGA others(983): Show CGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGG GGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAG AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAG GAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAG CCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGG AAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGA AAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	1	185	0.0054	990	c.303 others(1009): Show c.303+23577_303+23578insCTGGCTTTCCTTTCCTTCTCCCCGGC TTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTC CTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCC TTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCT CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTT TCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC GGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCT TTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTC CTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTC CCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTC CTTTCCTTCTCCCC		CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8						chr10	TogoVar
CDH23_chr10_71391920_71820947	71689036	G G	GGATGGTG others(983): Show GGATGGTGGAGCCAGGTGTGGTGGAGTCAGGGGTGTTGGAGCCAGGGATG GTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGA GTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAG GGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTG GTGGAGTCAGGGGTGGTGGAGTCCAGGGTGGTGGAGCCAGGGGTAGAGGA GTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAG GGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTG GTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGA GCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAG GGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTG GTGGAGTCAGGGGTGGTGGAGTCCAGGGTGGTGGAGCCAGGGGTAGAGGA GTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAG GGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTG GTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGA GCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAG GGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGCCAACGGTG GTGGAGTCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGGTGGTGGA GCCAGGGGTGGTGGAGCCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAG GGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTG GTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0092 a0092	a0092c0034 a0092c0034	a0092c0034t0001 a0092c0034t0001	a0092c0034t0001g0158 a0092c0034t0001g0158	1	133	0.0075	990	c.205 others(1009): Show c.2059+1318_2059+1319insATGGTGGAGCCAGGTGTGGTGGAGTC AGGGGTGTTGGAGCCAGGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGG TGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTG GAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCC AGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGGTGGTGGAGTCCAGGG TGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTG GACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTC AGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGG TGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTG GAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCC AGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGGTGGTGGAGTCCAGGG TGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTG GACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTC AGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGG TGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTG GAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCC AGGGATGGTGGAGCCAACGGTGGTGGAGTCAGGGGTGGTGGAGTCAGGGA TGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAGGGATGGTG GAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTC AGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGG TGGTGGAGCCAACG		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69					INFO_REALIGN_3_PRIME	chr10	TogoVar
CHL1_chr3_191763_414417	262289	T T	TAGATCTA others(983): Show TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTGCTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCTAGATCTACACAGTACTTACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCC TAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	203	0.0049	990	c.-95 others(1009): Show c.-95+17686_-95+17687insTAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTGCTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCC AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTATTCACA GGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCC		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(983): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATC CCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCT TCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATC CTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCTCCCTCTCTCCCTCT CCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCT CCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCT CCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCT CTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCT CGTCCTCTCGTCCTCTCTCTCTCCCCCCTCTCCCCCTCTCCCTCTCCTCC TGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTC TCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTC TCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTC TTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCT TCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCC TCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCC TCCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCT CTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCC CTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0023 a0007c0005t0023	a0007c0005t0023g0045 a0007c0005t0023g0045	1	6	0.1667	990	c.380 others(1007): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCTC TCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCT CTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTC CCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCC TCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCC CTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTC TCCTCTAATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTT TCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCG TCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCCTCTCCCC CTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCT CTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCC CCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCT CTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTC CCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCC CTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTC TCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCC CCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTC CCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCC CCTCCCCTCTCC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CROCC2_chr2_240901336_240998311	240980134	G G	GCCCAGGC others(983): Show GCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCA GGCTCACCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGG GTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCT CAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGA TCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCACCCC TGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCT CTGGGATAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCAGGATCCCAGGCTCATCGCTGCTCAAGCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCT CAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGA GCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0345 a0002c0011t0002g0345	1	200	0.0050	990	c.440 others(1009): Show c.4402-2706_4402-2705insTGGAGCCCAGGCTCACCCCTGCTCAG GCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCACCCCTGCTCAGTCTCTGGGGT AGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGATAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCGCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAA GCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(983): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCA GGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0310 a0004c0004t0004g0310	1	125	0.0080	990	c.236 others(1009): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAG CCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG GGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGGCCCAGCGAGA		DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20						chr1	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(983): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGGCCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCA GGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0290 a0004c0004t0004g0290	1	125	0.0080	990	c.236 others(1009): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAG CCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAG CCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGGCCCAGCGAGA		DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20						chr1	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(983): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGG GCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCA GGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0316 a0004c0004t0004g0316	1	125	0.0080	990	c.236 others(1009): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCC AGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG GGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCC AGGACCCAGCCAGA		DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20						chr1	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(983): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGA GGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGG GAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGA GGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGGAGGG AGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGG AGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGA GGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGG GAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGAAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAG GAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0201 a0007c0010t0001g0201	1	98	0.0102	990	c.118 others(1009): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCC TCCTCCTTCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCT CCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCC CTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCCTCCTCCTC CTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTC CTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCC CTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCC TCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCC CCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCT CCTCCTCCTCCTCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80						chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(983): Show AGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGG GAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGACAGGGCTGAGGAG GGGTGGTCGTGCTAGCGTTGAACCAAATGTGCAGAGAGCATCTCCTGGGC GCTCTGGGCTTTGCTGCCTGCCCCAAGTGAGGAGAAGGAGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGGAGGAGGAG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGA GGGAGGAGGAGGGGGGAGGAGGAGGAGGGGAGGAGGAGGGAGGAGGGGGA GGAGGGAGGAGGGGAGGAGGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGA GGGAGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGG AGGAGGGAAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAG GAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGGAGGTGGAGGAGGGTGGAGGAGGA GGAGGGGGAGGAGGAGGAGGGAGGTGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0132 a0132	a0132c0035 a0132c0035	a0132c0035t0001 a0132c0035t0001	a0132c0035t0001g0043 a0132c0035t0001g0043	1	98	0.0102	990	c.118 others(1009): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCACCTCCCTCC TCCTCCTCCCCCTCCTCCTCCTCCACCCTCCTCCACCTCCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCTC CTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTC CTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCC TCCTCCTTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCCTC CTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCCTCC TCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCTCCTCCTCCTC CCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCTCCTCCTCCCTCCCTCCTCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTCACTTGGGGCAGGC AGCAAAGCCCAGAGCGCCCAGGAGATGCTCTCTGCACATTTGGTTCAACG CTAGCACGACCACCCCTCCTCAGCCCTGTCCTCCTCCTCCCTCCTCCTCC TCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCT CCTCCTCCTCCTCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80						chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586244	G G	GAAAGGTA others(983): Show GAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTC AAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCA AAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGT GGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTA GGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0018 a0001c0001t0052g0018	1	206	0.0049	990	c.157 others(1005): Show c.1576+50_1576+51insAGGCCGGGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAAGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTAGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGT		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
GALNT9_chr12_132191372_132334589	132242873	C C	CCACACCC others(983): Show CCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACA CACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCC TTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCC GGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGC CCTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCTTCC CTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCTATACCCAT TACACACACGCCACACCCCCTTCCCGGAGCCCTCCCTATACCCATTACAC ACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACA ACACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACA CCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACCCCC TTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACACCCCCTTCCA GGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGC CCTCCCTATACCCATTACACACACAACACACACACTTCCCGGAGCCCTCC CTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACAACACACCCCCTTCCCGGGGCCTTCCCTATACCCAT TACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACAC ACACGCCACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACA ACACACACCCTTCCCGGAGCCCCCCCTATACCCATTACACACACGCCACA CCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01192.hp1 HG00639.hp1 HG01099.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0090 a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0090	3	140	0.0214	990	c.107 others(1009): Show c.1077+5036_1077+5037insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGGGGGCTCC GGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGGTGTGT TGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGT GTGTAATGGGTATAGGGAGGGCTCCGGGAAGTGTGTGTGTTGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGG TATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAG GGAAGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCC GGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCTCCGGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGT TGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGT GTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGG TATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAG GGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCC TGGAAGGGGGTGTG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALR1_chr18_77244848_77282900	77252908	C C	CCACCACC others(983): Show CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCATCACCATCACCACCACCACCACCA CCACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCACCAT CACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCACCAT CACCACCACCACCACCACCACCATCACCACCATCACCACCACCATCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCATC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	337	0.0030	990	c.666 others(1007): Show c.666+1708_666+1709insCCATCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCATCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCATCATCACCATCACCACCACC ACCACCACCACCACCACCATCACCATCACCACCACCATCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCA CCACCATCACCACCACCATCACCACCACCATCACCACCATCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCATCA CCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCAC CACCATCACCACCATCACCACCATCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS6_chr13_113815549_113869076	113824415	C C	CGCGCGGT others(983): Show CGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTC TGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGG GAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGAGCACCCGCGGTCTGGGG TCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCA CCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGT CTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCG GGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGAGGTCTGG GGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAG CACGCGAGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTC TGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACC CGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAG CTGTCGGGAGCACCTATGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCA GTCTGGGGTCTGAGCTGTCGGGAGCACGCGGGGTCTGGGGTCTGAGCTGT CGGGAGCACCTGCGGTCTGGGGTCTGAGCTGTCGGGAGCAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	79	0.0127	990	c.147 others(1007): Show c.1478-866_1478-865insATGCTCCCGACAGCTCAGACCCCAGACC GCAGGTGCTCCCGACAGCTCAGACCCCAGACCCCGCGTGCTCCCGACAGC TCAGACCCCAGACTGCGCGTGCTCCCGACAGCTCAGACCCCAGACCATAG GTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAG ACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGC TCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCC CAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCC GACAGCTCAGACCCCAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGA CCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACA GCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGC GCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTC AGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGT GCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGAC CCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTC CCGACAGCTCAGACCCCAGACCGCGGGTGCTCCGACAGCTCAGACCCCAG ACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGAC AGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCG CGCGTGCTCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTC AGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGT GCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGAC CCCAGACCGCGC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14						chr13	TogoVar
KIAA0930_chr22_45187244_45245894	45228779	C C	CTACCACC others(983): Show CTACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACA CTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAG ATCCCTCTCCACCCCCCTACCACCACTCACCCGAAAGATCCCTCTCCACC CCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATC ACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGA AAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCA CCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCAC TCACCCGAAAGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAA AGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTC TCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCC ACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCA AACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAG ATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTTCAC CCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCACCACT CACCCGAAAGATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAA GATCCCTCTCCACCCCCACACCACCAAACACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCC AACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCC GAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCT CCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0101 a0001c0001t0010g0101	1	379	0.0026	990	c.64+ others(1007): Show c.64+11860_64+11861insAGAGGGATCTTTCGGGTGAGTGTTTGGT GGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGA AGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCT CAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGG GTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGG GATCTTTCGGGTGAGTGGTGGGGGGGATGGGGAGGGATCTTTCGGGTGAG TGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGG GGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGGAGAGGGATCTT TCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAG TGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTG GTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGG TGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTG AGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGAT GGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTT TCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGT TTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTAGGGG GGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGA TCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGG TGAGTGGTGGTA		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(983): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGG TGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGG GATAGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGAGGGATAGATGGG TGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTG GGTGGGTGGGTGGAGGAATAGATGGGTGGTGGGTGGGTGGAGGGATAGAT GGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGG ATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGT GGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGTGGGTGGG TGGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGG TGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGAGGAATAGATGGGTG GGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGAGGAATAGA TGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTG GAGGGATAGATGGGTGGGTGGGTGGAGGAATAGATGGGTGGGTGGATGGG TGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTG GGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGA TAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGTGGGTGGGTGGAGGG ATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGT GGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0074 a0074	a0074c0123 a0074c0123	a0074c0123t0001 a0074c0123t0001	a0074c0123t0001g0082 a0074c0123t0001g0082	1	117	0.0085	990	c.450 others(1007): Show c.450+1910_450+1911insCACCCATCTATCCCTCCACCCACCCATC CACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTACCCACCCA TCCACCCATCTATCCCTCCACCCACCCACCACCCATCTATTCCTCCACCC ACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCT CCACCCACCCACCCACCCATCTATCCCTCCACCCACCCACCCACCCATCT ATCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCAC CCATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACCCACCC ATCCACCCACCCATCTATTCCTCCACCCACCCACCCATCTATCCCTCCAC CCACCCATCCACCCACCCATCTATTCCTCCACCCACCCACCCATCTATCC CTCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCTAT CCATCCACCCACCCACCCACCTACCTATCCTTCTACCCACCCATCCACCC ATCTATCCCTCCACCCACCCACCACCCATCTATTCCTCCACCCACCCACC CACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCA CCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTACC CACCCATCCACCCATCTATCCCTCCACCCACCCACCACCCATCTATTCCT CCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCT ATCCCTCCACCCACCCATCTATCCCTCCACCCACCCATCTATCCCTCCAC CCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCC ACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCACCCACCTAT CCATCCACCCACCCACCCACCTACCTATCCTTCTACCCACCCACCCATCT ATCCCTCCACCC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(983): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACA TACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATA CCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18997.hp1 NA18946.hp1 NA18997.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0034 a0002c0003t0003 a0001c0004t0034 a0002c0003t0003	a0001c0004t0034g0022 a0002c0003t0003g0095 a0001c0004t0034g0022 a0002c0003t0003g0095	2	7	0.2857	990	c.368 others(1007): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGT AGTAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(983): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACA TACCCGGGCCACTTACTTACTACATACCCGGGCCGCTTACTTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG00741.hp1 HG01255.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0004 a0002c0003t0003g0004	2	7	0.2857	990	c.368 others(1007): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAAGTAAGCGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGT AGTAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(983): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACA TACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0024 a0001c0004t0019g0024	1	6	0.1667	990	c.368 others(1007): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
MCCC1_chr3_183010218_183104496	183018248	C C	CACTGGTC others(983): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGACCAAATGC ACTAGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT CGTCAAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTG GTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTAC AGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACA GCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTCGTC AAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAG CCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCA AATCGGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGC CCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19000.hp1 NA18953.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0265 a0001c0001t0001g0269	2	306	0.0065	990	c.197 others(1007): Show c.1978-912_1978-911insACATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTG TAGGCCTCCGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGT AGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAG GCCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAG TGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT GCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGC CTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTG CATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCC TCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGC ATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCT CTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTGCA TTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTC TGATTTGACTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTACAT TTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCT GATTTGACCAGT		MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18						chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018248	C C	CACTGGTC others(983): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGACCAAATGC ACTAGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT CGTCAAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTG GTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTAC AGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACA GCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTCGTC AAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAG CCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCA AATCGGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGC CCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(13): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG02717.hp2 HG02738.hp1 HG03669.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp1 NA18974.hp1 NA18993.hp1 NA19055.hp2 NA19065.hp2 NA19067.hp2 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 others(13): Show a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274	16	320	0.0500	990	c.197 others(1007): Show c.1978-912_1978-911insACATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTG TAGGCCTCCGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGT AGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAG GCCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAG TGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT GCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGC CTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTG CATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCC TCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGC ATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCT CTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTGCA TTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTC TGATTTGACTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTACAT TTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCT GATTTGACCAGT		MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18						chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018248	C C	CACTGGTC others(983): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGACCAAATGC ACTAGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGG CCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT GGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTG GTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTAC AGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACA GCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTCGTC AAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAG CCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCA AATCGGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGC CCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01169.hp1 others(4): Show HG00735.hp1 HG01167.hp2 HG01169.hp1 HG02055.hp1 HG02257.hp1 HG02622.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(4): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203	7	311	0.0225	990	c.197 others(1007): Show c.1978-912_1978-911insACATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTG TAGGCCTCCGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGT AGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAG GCCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAG TGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT GCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGC CTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTG CATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCC TCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGC ATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCT CTGATTTGACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTGCA TTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTC TGATTTGACTAGTGCATTTGGTCTGTAGGCCTCTGATTTGACCAGTACAT TTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCT GATTTGACCAGT		MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18						chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018314	T T	TACTGGTC others(983): Show TACTGGTCAAATCAGAGGCCTACAGACCAAATGCACTAGTCAAATCAGAG GCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGC ACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGGTCAAATCAGAGG CCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGCA CTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCC TACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACT GGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCT ACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTG GTCAAATCAGAGGCCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTA CAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGG TCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTAC AGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACA GGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTC AAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAG GTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCA AATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGG TCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp2 NA19043.hp1 HG01255.hp2 HG02559.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0227 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0227	3	301	0.0100	990	c.197 others(1007): Show c.1978-978_1978-977insGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGAC CAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACC AGTGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGTA GGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCA GTGCATTTGACCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAG GCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTGATTTGACCAG TACATTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGACCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT GCATTTGACCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGC CTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTG CATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGGCC TCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGC ATTTGACCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCT CTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTGATTTGACCAGTACA TTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGACCTGTAGGCCTC TGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCAT TTGACCTGTAGGCCTCTGATTTGACTAGTGCATTTGGTCTGTAGGCCTCT GATTTGACCAGT		MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18						chr3	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(983): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGA CAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0044 a0044	a0044c0043 a0044c0043	a0044c0043t0003 a0044c0043t0003	a0044c0043t0003g0069 a0044c0043t0003g0069	1	247	0.0040	990	c.377 others(1007): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG TGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583558	G G	GCAGCCAC others(983): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGA CAACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	174	0.0057	990	c.377 others(1007): Show c.377-3630_377-3629insTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGG TGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MICAL3_chr22_17782649_18029561	17877063	T T	TGGAGGTT others(983): Show TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGG GAAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGG AGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTA GGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	229	0.0044	990	c.224 others(1009): Show c.2242-5041_2242-5040insCTAACCTCCATAACTTCCCTAACCTC CATAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACC TCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT AACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTA ACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTC CCTAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCCTAA CCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCC CTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT CACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877493	T T	TAGGGAGG others(983): Show TAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGG AGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA GGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAG GTGAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGG AGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTT ATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGA GGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTGAGGGAGGTTA GGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGG GAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0127 a0002c0010t0001g0127	1	226	0.0044	990	c.224 others(1009): Show c.2242-5471_2242-5470insCACCTCCCTAACCTCCATAACCTCCC TCACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTCACCTCCATAACC TCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTA ACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTC CCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAA CCTCCCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTCACCTCC CTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCA TAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTCACC TCCCTAACCTCCATAACCTCCCTCACCTCCCTCACCTCCCTAACCTCCAT AACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCT CCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATA ACCTCCCTCACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTCACCTC CCTAACCTCCCTCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTCACCTCC ATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCC TCACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACC TCCCTCACCTCCCT		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(983): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGG GGGGTCAGCCCCCCCGCCCAGACAGCCGCCCCATCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	59	0.0169	990	c.241 others(1009): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCTGGGC GGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCA CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCCGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGC		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(983): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCC TCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTG GGTCCCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTAC CTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACAACTGGGTCCCTTCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACAACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGTCCCTC CGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCCACAACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACAACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACAACTGGGTCCCTC CGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTTCG CCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0185 a0001c0004t0002g0185	1	154	0.0065	990	c.148 others(1009): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGAAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAG GGACCCAGTTGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGCGGG CGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGAAGGGACCCAG TTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCT AGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAAGG GGGGGCGGAGGGACCCAGGGTCGGTAAGGAAGGCGGAGGGACCCAGTAGT GGGTAAGAGGGTGGAGGGCCAGAGGGTAGGTAAGGAGGGCGGAGGGACCC AGGGTCGGTAAGGA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NKX1-1_chr4_1397932_1411442	1397942	C C	CGGGTGTT others(983): Show CGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGT GCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGT GAGTAGATCAGGTTGGATACAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCA GGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTG GATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC CGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTG GATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGT GGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTA GATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCA GGTTGGATGCCGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTG GATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGC AGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGT GTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	225	0.0044	990	c.49 others(1001): Show c.4989_*4990insTGCATCCAACCTGATCTACTCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA ACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCGGCA TCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCGGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGA TCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC CCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA GCACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC CGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCA TCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAA CCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGTATCCAACCTGA TCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC TCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACA TCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAG ATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCC TGAAAGCACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAA ACACCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4989		chr4	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(983): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC CCTCACCTGTACTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0006 a0006	a0006c0141 a0006c0141	a0006c0141t0001 a0006c0141t0001	a0006c0141t0001g0258 a0006c0141t0001g0258	1	148	0.0068	990	c.292 others(1005): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTG TCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
PCBP3_chr21_45638725_45947450	45924292	C C	CGAACACC others(983): Show CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTG TGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTTGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CGCGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0265 a0001c0001t0018g0265	1	246	0.0041	990	c.718 others(1007): Show c.718-5607_718-5606insAGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACA GTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGG GTGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACA GCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGT TGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCGCGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924377	A A	AGTGGGTA others(983): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGA GGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGG AACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	203	0.0049	990	c.718 others(1007): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGA ACAGTCGCGTGG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924490	C C	CGAACACT others(983): Show CGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAACAGTC GCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAACAGTCGC ATGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAA CACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	232	0.0043	990	c.718 others(1007): Show c.718-5421_718-5420insTGGGAACAGTCGCATGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAAC ACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGC ATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACAC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924707	A A	AGTGGGTA others(983): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGGTCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCAAACACTGGGAACAGTCGAGTG GATAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGG TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCG GGAACAGTCGTGTAGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGA GGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATA GAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCGAACACCGGG AACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGG TCGGGTGTGCACGAGGAGATGCAAACACTGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0098 a0001c0001t0017g0098	1	197	0.0051	990	c.718 others(1007): Show c.718-5206_718-5205insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCAAACA CTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCG TGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGTGTAGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCAAACACTGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGCAAACACTGGGA ACAGTCGCGTGG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(983): Show ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAA CACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	161	0.0062	990	c.718 others(1007): Show c.718-4779_718-4778insACGAGGAGATGCGAACACCGGGAACAGT CGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT GAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGCGAACACCGGGAACAGTCGCATGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCG GGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGA GGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAA GGTCGGGTGTGC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(983): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT ATTCTGAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCAGAATGGATCTATTCGGATCT ATTCAGAATGGATCTATTCAGAATGGATCTATTCGGATCTATTCAGAATG GATCTATTCGGATCTATTCAGAATGGATCTATTCGGATCTATTCAGAATG GATCTATTCGGATCTATTCAGAATGGATCTATTCGGATCTATTCAGAATG GATCTATTCGGATCTATTCAGAATGGATCTATTCGGATCTATTCAGAATG GATCTATTCGGATCTATTCAGAATGGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	50	0.0200	990	c.129 others(1007): Show c.129-5992_129-5991insTAGATCCGAATAGATCCATTCTGAATAG ATCCGAATAGATCCATTCTGAATAGATCCGAATAGATCCATTCTGAATAG ATCCGAATAGATCCATTCTGAATAGATCCGAATAGATCCATTCTGAATAG ATCCGAATAGATCCATTCTGAATAGATCCGAATAGATCCATTCTGAATAG ATCCGAATAGATCCATTCTGAATAGATCCGAATAGATCCATTCTGAATAG ATCCATTCTGAATAGATCCGAATAGATCCATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTGAATAG ATCTATTCAGAATAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(983): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGG AGAGGGGGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAAGGAGAGGG GGAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGG AGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGG AGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGGAGG GGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAGGGG GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAG AGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGA GAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTG AGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTG AGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGG CGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGG CGAGAGAGAGGGCGGGTGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGG CGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCG GGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAG AGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19087.hp1 NA19070.hp1 NA19087.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0156 a0010c0010t0001g0250 a0010c0010t0001g0156 a0010c0010t0001g0250	2	25	0.0800	990	c.371 others(1007): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCA CCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTC TCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCC TCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTC TCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTC TCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCT CCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCC CCTTCTCTCCCC		PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29						chr16	TogoVar
PPP2R3B_chrX_328933_391907	365437	A A	AGAGGCTG others(983): Show AGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGTTGCAGT GAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC TGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGT ACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGA GGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGC GACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTG GTGGCGCATGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT CGCTTCAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTG CACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAAC GATTAACCAGGTGTGGTGGCGCATGCCTGTACTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGTTGCAGTGAGCT GAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCT CAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTACTCC CAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGCGG AGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAG AGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGC GCATGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTT CAACACAGGAGGCGGAGGTTGCGGTGAGCTGAGATCGCACCACTGCACTC CAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTA ACCAGGTGTGGTGGCGCATGCCTGTACTCCCAGCTACTCGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0022 a0002c0001t0002g0022	1	20	0.0500	990	c.325 others(1007): Show c.325-3848_325-3847insCCGAGTAGCTGGGAGTACAGGCATGCGC CACCACACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCT GTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCGCAACCTCC GCCTCCTGTGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG AGTACAGGCATGCGCCACCACACCTGGTTAATCGTTTGTTTTGTTTTGAG ACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAG CTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTCAGCC TCTCGAGTAGCTGGGAGTACAGGCATGCGCCACCACACCTGGTTAATCGT TTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCA GTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGTGTTGAAGCGAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCATGCGCCACCA CACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCGC CCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTC CTGTGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTAC AGGCATGCGCCACCACACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGA GTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCAC TGCAACCTCCGCCTCCTGTGTTGAAGCGATTCTCCTGCCTCAGCCTCTCG AGTAGCTGGGAGTACAGGCATGCGCCACCACACCTGGTTAATCGTTTGTT TTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGT GCGATCTCAGCTCACTGCAACCTCCGCCTCCTGTGTTGAAGCGATTCTCC TGCCTCAGCCTC		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12						chrX	TogoVar

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