Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FOXK2_chr17_82514732_82609602	82586496	G G	GGGCGGGG others(285): Show GGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG CCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCAG TGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0023 a0009c0019t0023	a0009c0019t0023g0019 a0009c0019t0023g0019	1	292	0.0034	292	c.157 others(309): Show c.1576+299_1576+300insGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGAATGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCCGGGGGGGAATGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTAGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTAGGC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586499	C C	CAGTGGGG others(285): Show CAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGG GGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	271	0.0037	292	c.157 others(309): Show c.1576+299_1576+300insAGTGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGCCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGG AGGTGAAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXP1_chr3_70949708_71588728	71139606	A A	ATGGGAAA others(285): Show ATGGGAAATGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTAGGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0080 a0001c0001t0061g0080	1	88	0.0114	292	c.181 others(311): Show c.181-26970_181-26969insGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCCTAGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAGTTCATTTCCCA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	6/20			chr3	TogoVar
FRK_chr6_115926149_116065891	115985917	T T	TAGAATGC others(285): Show TAGAATGCTGAGTGCTTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18954.hp2 HG03831.hp1 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0038 a0002c0002t0002 a0002c0002t0038	a0002c0002t0002g0031 a0002c0002t0038g0066 a0002c0002t0002g0031 a0002c0002t0038g0066	2	184	0.0109	292	c.467 others(311): Show c.467-17179_467-17178insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC AAGCACTCAGCATTCT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	2/7			chr6	TogoVar
FTCD_chr21_46131779_46160579	46142292	C C	CGCGTCGG others(285): Show CGCGTCGGGAGCTGTTTCTTCCTCCCCATGAGGCCGCCGACCTTCACAGT GAGCGTTAAGCTCTTACAGGTGGCGCGTCGGGAGCTGTTTCTTCCTCCCC GTGAGGCCGCCGACCTTCACAGTGAGCGTTAAGCTCTTACAGGTGGCGCG TCGGGAGCTGTTTCTTCCTCCCGGTGAGGCCGCCGACCTTCACAGTGAGC CATAAGCTCTTACAGGTGGCGCGTCGGGAGCTGTTTCTTCCTCCCGGTGA GGCCGCCGACCTTCACAGTGAGCGTTAAGCTCTTACAGGTGAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0123 a0001c0001t0006g0123	1	225	0.0044	292	c.126 others(311): Show c.1260+3124_1260+3125insATCACCTGTAAGAGCTTAACGCTCAC TGTGAAGGTCGGCGGCCTCACCGGGAGGAAGAAACAGCTCCCGACGCGCC ACCTGTAAGAGCTTATGGCTCACTGTGAAGGTCGGCGGCCTCACCGGGAG GAAGAAACAGCTCCCGACGCGCCACCTGTAAGAGCTTAACGCTCACTGTG AAGGTCGGCGGCCTCACGGGGAGGAAGAAACAGCTCCCGACGCGCCACCT GTAAGAGCTTAACGCTCACTGTGAAGGTCGGCGGCCTCATGGGGAGGAAG AAACAGCTCCCGACGC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46142329	A A	AGACCTTC others(285): Show AGACCTTCACAGTGAGCCATAAGCTCTTACAGGTGGCGCGTCGGGAGCTG TTTCTTCCTCCCCGTGAGGCCGCCGACCTTCACAGTGAGCCATAAGCTCT TACAGGTGGCGCGTCGGGAGCTGTTTCTTCCTCCCGGTGAGGCCGCAGAC CTTCACAGTGAGCCATAAGCTCTTACAGGTGATGCGTCGGGAGCTGTTTC TTCCTCCCGGTGAGGCCGCAGACCTTCACAGTGAGCCATAAGCTCTTACA GGTGGCGCGTCGGGAGCTGTTTCTTCCTCCCCGTGAGGCCGCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	159	0.0063	292	c.126 others(311): Show c.1260+3087_1260+3088insGGCGGCCTCACGGGGAGGAAGAAACA GCTCCCGACGCGCCACCTGTAAGAGCTTATGGCTCACTGTGAAGGTCTGC GGCCTCACCGGGAGGAAGAAACAGCTCCCGACGCATCACCTGTAAGAGCT TATGGCTCACTGTGAAGGTCTGCGGCCTCACCGGGAGGAAGAAACAGCTC CCGACGCGCCACCTGTAAGAGCTTATGGCTCACTGTGAAGGTCGGCGGCC TCACGGGGAGGAAGAAACAGCTCCCGACGCGCCACCTGTAAGAGCTTATG GCTCACTGTGAAGGTC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46145756	C C	CTTCCCCC others(285): Show CTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGC GCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCA ACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCT TCCCCCCACCCCGCGCTCCCCCCCAACAGCGCCCTCCCCCCAACAGCGCC CTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTG TGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0207 a0001c0002t0004g0207	1	110	0.0091	292	c.109 others(307): Show c.1098+61_1098+62insCGGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG CTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGGAGCG CGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGG AGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGG GGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGC GGGGAGGGGGAA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(285): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCCT TCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGC CCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCCCCCCACC CCGCGCTCCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAA CAGCGCCTCCCCCCAACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTC CCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0098 a0002c0008t0002g0098	1	170	0.0059	292	c.109 others(307): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGAGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTG GGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAG GGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGG GCGGGGAGGGGGAAGGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTT GGGGGGAGGGCG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GALNT9_chr12_132191372_132334589	132300319	T T	TCACTCCC others(285): Show TCACTCCCATAACTAACCCACTCCCACCACATCTAACCCATCCCTGAGAT GACCAAGCCACTCCTGAGATAACTCACTCCCATAACTCACCCACTCCCAC CACACCTAACGCACCCCTGAGATAACCAAGCCACTGCTGAGATAACCCAC TCCCATAACTAACCCACTCCCACCACATCTAACCCATCCCTGAGATGACC AAGCCACTCCTGAGATAACTCACTCCCATAACTCACCCACTCCCACCACA CCTAACCCATCCCTGAGATAACCAAGCCACTGCTGAGATAACC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	180	0.0056	292	c.239 others(311): Show c.239-13890_239-13889insGGTTATCTCAGCAGTGGCTTGGTTAT CTCAGGGATGGGTTAGGTGTGGTGGGAGTGGGTGAGTTATGGGAGTGAGT TATCTCAGGAGTGGCTTGGTCATCTCAGGGATGGGTTAGATGTGGTGGGA GTGGGTTAGTTATGGGAGTGGGTTATCTCAGCAGTGGCTTGGTTATCTCA GGGGTGCGTTAGGTGTGGTGGGAGTGGGTGAGTTATGGGAGTGAGTTATC TCAGGAGTGGCTTGGTCATCTCAGGGATGGGTTAGATGTGGTGGGAGTGG GTTAGTTATGGGAGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(285): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG02738.hp1 HG02738.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0005 a0001c0001 a0007c0005	a0001c0001t0003 a0007c0005t0001 a0001c0001t0003 a0007c0005t0001	a0001c0001t0003g0001 a0007c0005t0001g0001 a0001c0001t0003g0001 a0007c0005t0001g0001	2	231	0.0087	292	c.-32 others(303): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GLCE_chr15_69155635_69277207	69192354	A A	AATAATAT others(285): Show AATAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCTCGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18991.hp2 NA19063.hp2 HG02523.hp2 NA18991.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0296 a0001c0001t0001g0307 a0001c0001t0001g0309	3	340	0.0088	292	c.-10 others(313): Show c.-104-17951_-104-17950insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCTATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTATAATATTTTT	GLCE	ENSG00000138604.10	transcript	ENST00000261858.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(285): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAG GGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18941.hp2 HG02735.hp1 NA18941.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0030 a0002c0002t0003 a0001c0001t0030 a0002c0002t0003	a0001c0001t0030g0127 a0002c0002t0003g0107 a0001c0001t0030g0127 a0002c0002t0003g0107	2	15	0.1333	292	c.229 others(311): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(285): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAG GGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0022 a0022	a0022c0021 a0022c0021	a0022c0021t0002 a0022c0021t0002	a0022c0021t0002g0154 a0022c0021t0002g0154	1	14	0.0714	292	c.229 others(311): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCC CTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(285): Show CATATGTATATGTATATATATAGACATACATATGTATATGTATATATATA GACATACATATGTATATGTCTATATAGACATACATATACGTATGTCTATA TAGACATACATATACATATGTCTATATAGACATACATATATGTATGTCTA TATAGACATATATATCTATATATACACATATACGTATATATAGACATATA CGTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATA TACGTATATGTGTATATATAGACATATATATGTATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	2	0.5000	292	c.930 others(311): Show c.930+22728_930+22729insATAGACATACATATGTATATGTATAT ATATAGACATACATATGTATATGTCTATATAGACATACATATACGTATGT CTATATAGACATACATATACATATGTCTATATAGACATACATATATGTAT GTCTATATAGACATATATATCTATATATACACATATACGTATATATAGAC ATATACGTATATGTGTATATATAGACATATACGTATATGTGTATATATAG ACATATACGTATATGTGTATATATAGACATATATATGTATATGTGTATAT ATGTATATGTATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPIHBP1_chr8_143208218_143222170	143211626	G G	GGCGGGGC others(285): Show GGCGGGGCGTGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGC GGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGAG GGGTGAAGATGACGGGAGGCAGTGCACGGGGGAGGCGGGGCACAGGAGAG GCGGGTCAACAGGGAGGTGGGACGCTGGGGAGAAGGGGCGAATGGGGGCG GGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGGGCAGTGGGGGAGGCGG GGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01258.hp2 others(11): Show HG00280.hp1 HG00558.hp1 HG01258.hp2 HG01952.hp2 HG01993.hp2 HG02027.hp2 HG02148.hp1 HG02258.hp1 HG02602.hp1 HG02683.hp1 NA19005.hp1 NA19064.hp1 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0011 a0001c0004t0015 others(1): Show a0001c0004t0004 a0001c0004t0011 a0001c0004t0015 a0001c0004t0018	a0001c0004t0004g0004 a0001c0004t0004g0013 a0001c0004t0011g0009 others(2): Show a0001c0004t0004g0004 a0001c0004t0004g0013 a0001c0004t0011g0009 a0001c0004t0015g0004 a0001c0004t0018g0004	14	70	0.2000	292	c.-16 others(303): Show c.-1642_-1641insGCGGGGCGTGAGAGGCGGGGCAGTGGGGGAGGCG GGGCGTGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCGG GGCGTGGGGGAGGAGGGGTGAAGATGACGGGAGGCAGTGCACGGGGGAGG CGGGGCACAGGAGAGGCGGGTCAACAGGGAGGTGGGACGCTGGGGAGAAG GGGCGAATGGGGGCGGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGGG CAGTGGGGGAGGCGGGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGCA CCAGGGTA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1591		chr8	TogoVar
GPSM1_chr9_136322539_136364601	136355150	G G	GGGTGACA others(285): Show GGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACA CGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGG GGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGG TAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGG TGCCGAGGGTGGTGACACGTCCTGGGGTAGGGGTAGCCGGGTGCCGAGGG TGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0321 a0002c0004t0001g0321	1	393	0.0025	292	c.145 others(309): Show c.1456-329_1456-328insTGACACGTCCTGGGGTAGGGGTAGCCGG GTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAG GGTGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGA CACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCT GGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGG GGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCG GGTGCCGAGGGTGG	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRAMD4_chr22_46615386_46684785	46631647	G G	GGGGATGG others(285): Show GGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCG GGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGG GGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGG GATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGG ATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGA TGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCCCTGGGGACC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	326	0.0031	292	c.162 others(309): Show c.162+4968_162+4969insCCTGGGGACCGGGATGGGTAGAACCTCA CGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCAC GGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGC CTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCC TGTGTCCTTTCGTC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRK4_chr4_2958571_3045760	2961226	T T	TGTTAGTA others(285): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TTATAGTAACTATATTAATATATACTAACTATATTAATAATATAGTTAGT ATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	135	0.0074	292	c.-28 others(303): Show c.-2845_-2844insGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTTATAGTAACTATATTAATATATACTAACTATATT AATAATATAGTTAGTATATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2344		chr4	TogoVar
GTPBP6_chrX_299759_323796	322341	A A	AAAAAAAA others(285): Show AAAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGG TGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAG CCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTA CAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0059 a0001c0003t0003g0059	1	151	0.0066	292	c.-35 others(303): Show c.-3555_-3554insGTAGATAATAGGGTCTTACCATATTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTTTTTT TTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3546		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106709971	A A	ACATGTAT others(285): Show ACATGTATATAACATATAGTTATATATTATATACATGTATATAACATATA GTTATATATTATATACATGTATATAACATATAGTTATATATTATATACAT GTATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGT TATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATAC ATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATATA GTTATGTATATTATATACATGTATATAACATATAGTTATGTAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03453.hp2 HG02109.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0109 a0001c0001t0015g0112 a0001c0001t0015g0109 a0001c0001t0015g0112	2	111	0.0180	292	c.183 others(311): Show c.1837-1306_1837-1305insATACATAACTATATGTTATATACATG TATATAATATACATAACTATATGTTATATACATGTATATAATATACATAA CTATATGTTATATACATGTATATAATATACATAACTATATGTTATATACA TGTATATAATATACATAACTATATGTTATATACATGTATATAATATACAT AACTATATGTTATATACATGTATATAATATATAACTATATGTTATATACA TGTATATAATATATAACTATATGTTATATACATGTATATAATATATAACT ATATGTTATATACATG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	107022930	T T	TAAAATCA others(285): Show TAAAATCACAATGTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAACAGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA19030.hp2 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0034 a0001c0003t0004 a0001c0003t0034	a0001c0003t0004g0236 a0001c0003t0034g0244 a0001c0003t0004g0236 a0001c0003t0034g0244	2	226	0.0088	292	c.-48 others(303): Show c.-4876_-4875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTCACATT GTGATTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding		4455		chr11	TogoVar
HCN1_chr5_45249948_45701380	45257948	C C	CAGTATGA others(285): Show CAGTATGAGTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0071 a0001c0001t0026g0071	1	216	0.0046	292	c.39 others(303): Show c.3972_*3973insAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTA CTCATACT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	8/8	3972		chr5	TogoVar
HRAS_chr11_527242_540576	530578	G G	GAGAAGGG others(285): Show GAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCG AGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGA AGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTG GAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGT CCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGCGAGTG TGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	330	0.0030	292	c.19 others(303): Show c.1949_*1950insGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAG GGGACGCCACACTCGCCCTTCTGTCCAGGGGACGCCACACTGGCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCAC ACTCCCCCTTCTCTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGA CGCCACACTCGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTC GCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1663		chr11	TogoVar
HRAS_chr11_527242_540576	530578	G G	GAGAAGGG others(285): Show GAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCG AGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGA AGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTG GAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGT CCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTG TGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02717.hp1 HG01346.hp2 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	2	331	0.0060	292	c.19 others(303): Show c.1949_*1950insGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAG GGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTGGCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCAC ACTCCCCCTTCTCTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGA CGCCACACTCGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTC GCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1663		chr11	TogoVar
HS3ST3A1_chr17_13489032_13606929	13533514	T T	TGAAGTTA others(285): Show TGAAGTTATTAATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0072 a0001c0002t0005g0072	1	256	0.0039	292	c.600 others(311): Show c.600-36697_600-36696insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAATTAATAACTTC	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
IFNAR1_chr21_33319970_33364864	33322340	T T	TATGGAAT others(285): Show TATGGAATATACATAGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATACATGGAATATATGTATATGGAATATATACATGGAATATATGTATAT GGAATATATACATGGAATATATGTATATGGAATATATACATGGAATATAT GTATATGGAATATATACATGGAATATATATATGGAATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	303	0.0033	292	c.-27 others(303): Show c.-2716_-2715insATGGAATATACATAGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATACATGGAATATATGTATATGGAATATATACAT GGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAATAT ATACATGGAATATATGTATATGGAATATATACATGGAATATATATATGGA ATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2629		chr21	TogoVar
IL11_chr19_55359382_55375463	55360277	C C	CCTCCTCC others(285): Show CCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAG ACTCAGGAGTCCAGGCCCCAGCTCCTCCTCCCTCAGACCCAGGAGTCCAG ACCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCAGCTCCTC CTCCCTCAGACTCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACTC AGGAGTCCAGGCCCCAGCTCCTCCTCCCTCAGACCCAGGAGTCCAGACCC CCAGCCCCTCCTCCCTCAGACTGAGGAGTCCAGGCCCCAGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0017 a0004c0007t0017	a0004c0007t0017g0075 a0004c0007t0017g0075	1	348	0.0029	292	c.57 others(303): Show c.5729_*5730insAGACTGGGGCCTGGACTCCTCAGTCTGAGGGAGG AGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGGCC TGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGAGT CTGAGGGAGGAGGAGCTGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGG GCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGA CTCCTGAGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGA GGGAGGAG	IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding		4104		chr19	TogoVar
INO80_chr15_40973880_41121280	41031591	G G	GAGGAAGG others(285): Show GAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG GAGGGAGGAAGGGAGGAAAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp2 HG02486.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0274 a0001c0001t0007g0280 a0001c0001t0007g0274 a0001c0001t0007g0280	2	255	0.0078	292	c.290 others(311): Show c.2908-3856_2908-3855insTTCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCTT TCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCT CCCTTCCTCCCTTCCT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
JAM3_chr11_134064072_134157001	134138440	A A	ATAGTCCC others(285): Show ATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCAT ACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGTGT CTCGTCTAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAG TCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTAGTGCTCATACTG AGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTAGCGTCTGG TCGAAGTCGTGGTGCTCATGCTGAGAGAAATGTTTATGGCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01070.hp1 others(20): Show HG00140.hp2 HG00280.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01168.hp1 HG01243.hp1 HG01358.hp2 HG01515.hp1 HG02040.hp1 HG02559.hp2 HG02615.hp2 HG02886.hp2 HG02895.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp1 HG03540.hp2 NA19043.hp1 NA19074.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 others(4): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0038	a0001c0001t0006g0255 a0001c0001t0006g0257 a0001c0001t0006g0349 others(19): Show a0001c0001t0006g0255 a0001c0001t0006g0257 a0001c0001t0006g0349 a0001c0001t0007g0015 a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0007g0240 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0246 a0001c0001t0007g0248 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0017g0251 a0001c0001t0017g0252 a0001c0001t0017g0256 a0001c0001t0022g0234 a0001c0001t0023g0245 a0001c0001t0023g0247 a0001c0001t0024g0356 a0001c0001t0038g0233	23	223	0.1031	292	c.77- others(307): Show c.77-1388_77-1387insCGTCTCGTCGAAGTCGTGGTGCTCATACTG AGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGTGTCTCG TCTAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCC TTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTAGTGCTCATACTGAGAG AAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTAGCGTCTGGTCGA AGTCGTGGTGCTCATGCTGAGAGAAATGTTTATGGCCACTAGTCCCTTAG AGCCAGTGGTGG	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNMB2_chr3_178531436_178849429	178758739	G G	GATATATA others(285): Show GATATATATATATATATATCTCCAAAAGGAGATATATATATATATATCTC CTCTAGGAGAGATATATATATATATATATATATCTCCAAGAGGAGATATA TATATATATATATATATCTCCTCTAGGAGATATATATATATATCTCCAAG AGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCA AGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTC CAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	122	0.0082	292	c.-67 others(311): Show c.-67-48580_-67-48579insAAGGAGATATATATATATATATCTCC TCTAGGAGAGATATATATATATATATATATATCTCCAAGAGGAGATATAT ATATATATATATATATCTCCTCTAGGAGATATATATATATATCTCCAAGA GGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAA GAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATATATATCTCCAAGAGGAGATATATATAT ATATATATATCTCCAA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA1549_chr7_138826381_138986389	138878761	C C	CAAAAAAA others(285): Show CAAAAAAAAATATTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTCCGCCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp1 HG01361.hp2 others(1): Show HG00140.hp2 HG01261.hp1 HG01361.hp2 HG02698.hp2	a0003 a0015 a0003 a0015	a0003c0006 a0015c0020 a0003c0006 a0015c0020	a0003c0006t0001 a0015c0020t0002 a0003c0006t0001 a0015c0020t0002	a0003c0006t0001g0124 a0003c0006t0001g0132 a0003c0006t0001g0200 others(1): Show a0003c0006t0001g0124 a0003c0006t0001g0132 a0003c0006t0001g0200 a0015c0020t0002g0126	4	191	0.0209	292	c.434 others(309): Show c.4345+776_4345+777insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GGCGGAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAATATTTTTTTTT	KIAA1549	ENSG00000122778.10	transcript	ENST00000422774.2	protein_coding	12/19			chr7	TogoVar
LARS1_chr5_146108034_146187650	146174471	T T	TATATATC others(285): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATCCATATATATATATCCATATATATGGATATATATATATCCATATATA TCTATCCATATATATATCCATATATATCTATCCATATATATATCCATATA TCTATCCATATATATATCCATATATCTATCCATATATATATCC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	218	0.0046	292	c.126 others(309): Show c.126-1698_126-1697insGGATATATATATGGATAGATATATGGAT ATATATATGGATAGATATATGGATATATATATGGATAGATATATATGGAT ATATATATGGATAGATATATATGGATATATATATATCCATATATATGGAT ATATATATATGGATATATATATGGATATATATATATGGATATATATATGG ATATATATATATGGATATATATATGGATATATATATGGATATATATATAT GGATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124506794	G G	GGGGGGTA others(285): Show GGGGGGTAGACAGGATTTCAGGTGAGGCGGGTAGGGAGGATTTCAGGTGC AGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAG GGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	254	0.0039	292	c.624 others(309): Show c.624+8671_624+8672insTAGACAGGATTTCAGGTGAGGCGGGTAG GGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGG GAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGG AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGGGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507685	C C	CAGGATTT others(285): Show CAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	160	0.0063	292	c.625 others(309): Show c.625-9482_625-9481insGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGG TAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(285): Show CCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	88	0.0114	292	c.171 others(309): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACCGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LUC7L_chr16_183990_234449	186153	G G	GGGAACAG others(285): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACA CGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	237	0.0042	292	c.30 others(303): Show c.3044_*3045insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2836		chr16	TogoVar
LUC7L_chr16_183990_234449	187155	G G	GAGGGAGG others(285): Show GAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	282	0.0035	292	c.20 others(303): Show c.2042_*2043insTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT CCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTC CTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1834		chr16	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(285): Show TCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAC ACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCA CCCGGCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	341	0.0029	292	c.456 others(309): Show c.456+1538_456+1539insCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACT CACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCC ACCCGGCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACA CTCCAGACTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(285): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTACATATATACATATATGTACATATA TGTATATATGTACACATGTACATATATGTACATATGTACACATGTACATA TATGTACATATGTACATATATGTACATATGTACATATATGTACATATATG TACATATATGTACATATATGTACATATATGTACATATATGTACATATATG TACATATATGTACATATATGTACATATATGTACATATATGTAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0015 a0002c0013t0015	a0002c0013t0015g0139 a0002c0013t0015g0139	1	89	0.0112	292	c.627 others(309): Show c.627+6680_627+6681insGTACATATATGTACATATATGTACATAT ATGTACATATATGTACATATATGTACATATATGTACATATATGTACATAT ATGTACATATATGTACATATATGTACATATATGTACATATGTACATATAT GTACATATGTACATATATGTACATGTGTACATATGTACATATATGTACAT GTGTACATATATACATATATGTACATATATGTATATATGTACATATATAC ATATATACATATATGTACATATATACATATATACATATATACATATATGT ACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MEGF6_chr1_3482951_3616508	3578805	T T	TCCCCAGT others(285): Show TCCCCAGTGGAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGCT GGGGAGACCCAGCACCTCCGCAGAACCCCTCCTCAGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAACCCCTCCTCAGCCCG GCCCCCAGCGGAACGTGGAGTGGGCAGGAGTGTCACCCAGCTCAGAACGC TGGGGAGACCCAGCACCTCCGCAGAACCCCTCCTCAGCCCGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19043.hp1 HG02109.hp2 NA19043.hp1	a0033 a0033	a0033c0027 a0033c0027	a0033c0027t0034 a0033c0027t0034	a0033c0027t0034g0271 a0033c0027t0034g0272 a0033c0027t0034g0271 a0033c0027t0034g0272	2	268	0.0075	292	c.481 others(309): Show c.481+1019_481+1020insGCCGGGCTGAGGAGGGGTTCTGCGGAGG TGCTGGGTCTCCCCAGCGTTCTGAGCTGGGTGACACTCCTGCCCACTCCA CGTTCCGCTGGGGGCCGGGCTGAGGAGGGGTTCTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCTGAGGAGGGGTTCTGCGGAG GTGCTGGGTCTCCCCAGCGTTCTGAGCTGGGTGACACTCCTGCCCACTCC ACGTTCCACTGGGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	4/36			chr1	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(285): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	102	0.0098	292	c.107 others(311): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLLT3_chr9_20336669_20627499	20564340	T T	TAGAAAAG others(285): Show TAGAAAAGAGATGGCTCCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG00423.hp1 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0027 a0001c0007t0001 a0001c0001t0027 a0001c0007t0001	a0001c0001t0027g0173 a0001c0007t0001g0177 a0001c0001t0027g0173 a0001c0007t0001g0177	2	168	0.0119	292	c.193 others(311): Show c.193+56313_193+56314insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG GAGCCATCTCTTTTCT	MLLT3	ENSG00000171843.17	transcript	ENST00000380338.9	protein_coding	2/10			chr9	TogoVar
MPPED1_chr22_43407014_43512848	43432661	A A	AGAGAGAG others(285): Show AGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGG AGAGAGAGATAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAA GGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	243	0.0041	292	c.225 others(309): Show c.225-2366_225-2365insGGAAAGAGAGAAGGGGAGGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA GAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATA AAGGGAGGAGAGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(285): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATATGTATATATATGTATATATATGTGTATATATGT ATATATATGTATATATATGTGTATATATATGTGTATATATATGTATATAT ATGTGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATGTATATATATATGTAT ATATATATGTATATATATGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19072.hp1 HG00597.hp2 NA19072.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0177 a0003c0004t0003g0182 a0003c0004t0003g0177 a0003c0004t0003g0182	2	366	0.0055	292	c.484 others(307): Show c.484-660_484-659insCATATATATATACATATATATATACATATA TATACATATATATATACATATATATATACATATATATACATATATATACA TATATATACATATATATACATATATATACATATATATACATATATATACA TATATATACACATATATATACATATATATACACATATATATACACATATA TATACATATATATACATATATACACATATATATACATATATATACATATA TATACATATATATACATATATATATACATATATATATACATATATATATA TACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSR1_chr8_16102881_16197651	16189506	T T	TTTTATAT others(285): Show TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATTATATATATAAAATCTTATTTTATATATTATATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TTTTATATATATTTTATATATATAAAATCTTATTTTATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp2 HG02922.hp2 HG01099.hp1 HG02145.hp2 HG02922.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0001 a0007c0014t0005 a0001c0001t0001 a0007c0014t0005	a0001c0001t0001g0038 a0001c0001t0001g0039 a0007c0014t0005g0041 a0001c0001t0001g0038 a0001c0001t0001g0039 a0007c0014t0005g0041	3	315	0.0095	292	c.-5+ others(307): Show c.-5+3091_-5+3092insTATATATAAAATAAGATTTTATATATATAA AATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATATAATATATAAAATAAGATTTTATATATATA ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTCH2_chr11_47612317_47647559	47640806	T T	TAAGAATA others(285): Show TAAGAATATTCAAAACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	366	0.0027	292	c.87+ others(307): Show c.87+1572_87+1573insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTT TTGAATATTCTT	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	1/12			chr11	TogoVar
MTHFSD_chr16_86525186_86560235	86526754	C C	CCATTTTA others(285): Show CCATTTTATCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAAATTAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCACTCCCGCCTGGGCCACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG03225.hp1 HG04204.hp2 others(4): Show HG02074.hp1 HG03225.hp1 HG04204.hp2 NA18965.hp2 NA18987.hp1 NA18994.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0002 a0001c0001t0001g0088 a0001c0001t0001g0159 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0088 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0030g0180	7	275	0.0255	292	c.52 others(303): Show c.5256_*5257insTTCTCTTCTTTTTCTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTGGCCCAGGCGGGAGTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCCTCCAGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACGCCCGGCTAA TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG ATAAAATG	MTHFSD	ENSG00000103248.19	transcript	ENST00000360900.11	protein_coding		3431		chr16	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(285): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATATTCATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0070 a0010c0010t0001g0070	1	168	0.0060	292	c.394 others(307): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATATTCATATATATGTTCATATATAT ATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYO16_chr13_108624611_109213005	109023305	T T	TATATATA others(285): Show TATATATATTTATATATTATACAGATATAAATATATATATTTATATATTA TACAGATATAAATATATATATTTATATATTATACAGATATAAACATATAT TTATATATTATACAGATATAAACATATATTTATATATTATACAGATATAA ACATATTTATATATTATACAGATATAAATATATATTTATATATTATACAG ATATAAATATATATTTATATATTATACAGATATAAATATATATTTATATA TTATACAGATATAAATATATATTTATATATTATACAGATATAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG06807.hp2 HG02886.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0004 a0001c0002t0001 a0001c0008t0004	a0001c0002t0001g0001 a0001c0008t0004g0058 a0001c0002t0001g0001 a0001c0008t0004g0058	2	80	0.0250	292	c.279 others(311): Show c.2796+3431_2796+3432insATTTATATATTATACAGATATAAATA TATATATTTATATATTATACAGATATAAACATATATTTATATATTATACA GATATAAACATATATTTATATATTATACAGATATAAACATATTTATATAT TATACAGATATAAATATATATTTATATATTATACAGATATAAATATATAT TTATATATTATACAGATATAAATATATATTTATATATTATACAGATATAA ATATATATTTATATATTATACAGATATAAATATATATTTATATATTATAC AGATATAAATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYT1L_chr2_1784113_2336275	2115771	G G	GTGCTGTG others(285): Show GTGCTGTGCAGTTGAGGAAGCTGAGGCTGAGAAGTAGGATGCACCACGTC CAGTCGATGAAAACAGGACGAGCCTGCTGTGCAGTTGAGGAAGCTGAGGT TGAGAAGTAGGATGCACCACGTCCAGTCGATGAAAACAGGACGAGCCTGC TGTGCAGTTGAGGAAGCTGAGGCTGAGAAGTAGGATGCACCACGTCCAGT CGATGAAAACAGGACGAGCCTGCTGTGCAGTTGAGGAAGCTGAGGCTGAG AAGTAGGATGCACCACGTCCAGTCGACGAAAACAGGACGAGCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0009 a0001c0001t0009 a0001c0003t0009	a0001c0001t0009g0021 a0001c0003t0009g0096 a0001c0001t0009g0021 a0001c0003t0009g0096	2	98	0.0204	292	c.-30 others(313): Show c.-304+57100_-304+57101insGGCTCGTCCTGTTTTCGTCGACTG GACGTGGTGCATCCTACTTCTCAGCCTCAGCTTCCTCAACTGCACAGCAG GCTCGTCCTGTTTTCATCGACTGGACGTGGTGCATCCTACTTCTCAGCCT CAGCTTCCTCAACTGCACAGCAGGCTCGTCCTGTTTTCATCGACTGGACG TGGTGCATCCTACTTCTCAACCTCAGCTTCCTCAACTGCACAGCAGGCTC GTCCTGTTTTCATCGACTGGACGTGGTGCATCCTACTTCTCAGCCTCAGC TTCCTCAACTGCACAGCA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	3/24			chr2	TogoVar

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