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
FAM3B_chr21_41311801_41362727	41313500	C C	CATACAGT others(369): Show CATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATGAT ACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACA GTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATGATACAGTA TGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGT ATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATG CATGTCGCATTTGATCCATTCTTGAACCTCATGATACAGTATGTATGCAT GTCGCATTTGATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTC GCATTTGATCCATTCTTGAACCTCATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	314	0.0032	376	c.-33 others(387): Show c.-3380_-3379insATACAGTATGTATGCATGTCGCATTTGATCCATT CTTGAACCTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTT GAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAA CCTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCT CATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCAT CATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATGAT ACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATGATACA GTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATG	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3300		chr21	TogoVar
FAM3B_chr21_41311801_41362727	41313568	G G	GCATTTGA others(369): Show GCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCA TTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTT GATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGAT CCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCA TTCTTGAACCTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTC TTGAACCTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTTG AACCTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAAC CTCATCATACAGTATGTATGCATGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01952.hp1 NA19057.hp1 HG00609.hp2 HG01952.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0092 a0001c0001t0001g0001 a0001c0001t0001g0092	3	314	0.0096	376	c.-33 others(387): Show c.-3312_-3311insCATTTGATCCATTCTTGAACCTCATCATACAGTA TGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGT ATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATG CATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCAT GTCGCATTTGATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTC GCATTTGATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTCGCA TTTGATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTCGCATTT GATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCA	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3232		chr21	TogoVar
FBP1_chr9_94598133_94644518	94616597	T T	TGTTTTTT others(369): Show TGTTTTTTTGTATTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	358	0.0028	376	c.426 others(393): Show c.426+1170_426+1171insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAATACAAAAAAAC	FBP1	ENSG00000165140.12	transcript	ENST00000375326.9	protein_coding	3/6			chr9	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(369): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGAGAGGGAGACGGGGAGAGG GAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGG GAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGACGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0182	1	370	0.0027	376	c.39 others(387): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGC CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCG TCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTC TCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FNIP2_chr4_158764026_158913050	158893626	T T	TATGATCT others(369): Show TATGATCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	254	0.0039	376	c.315 others(395): Show c.3150+1995_3150+1996insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGATCTTATTTTTT	FNIP2	ENSG00000052795.13	transcript	ENST00000264433.11	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
FOXP1_chr3_70949708_71588728	71435378	G G	GGGAGGGA others(369): Show GGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAAGGG ACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAG GGAAGAAGGGACGGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAGAAGGG ACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAAGG AGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAAGGAGGGACGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0052 a0001c0001t0017g0052	1	96	0.0104	376	c.-16 others(397): Show c.-168+58047_-168+58048insTCCCTCCCTCCGTCCCTCCTTCCC TCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTC CCTCCTTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCC TCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTC CGTCCCTTCTTCCCTCCCTCCGTCCCTTCTACCCTCCCTCCGTCCCTTCT TCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTC CGTCCCTTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435381	A A	AGGGAGGG others(369): Show AGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAG GAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAAGGGACG GAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGA AGAAGGGACGGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAGAAGGGACG GAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAAGGAGG GACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAAGGAGGGACGGAGGGAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0050 a0001c0001t0015g0050	1	96	0.0104	376	c.-16 others(397): Show c.-168+58044_-168+58045insCCTTCCCTCCCTCCGTCCCTCCTT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTACCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTC CC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(369): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCCAACAACTGCGCCCTCCCCT TCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCCAACAACTGCG CCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCCAACAGCGCCCTCCCCCCA ACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCT TCCCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCA CCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAA CAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCGT TCCCCCTCCCCGCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0027 a0027	a0027c0026 a0027c0026	a0027c0026t0003 a0027c0026t0003	a0027c0026t0003g0129 a0027c0026t0003g0129	1	230	0.0044	376	c.109 others(391): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAACG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGTGC AGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGG CGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGG GGGGAGGGCGCTGTTGGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGC AGTTGTTGGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GGAGGGCGCAGTTGTTGGGGGGGAGGGCGCTGTTGGGGGGAGGGCG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GMEB2_chr20_63582605_63632101	63608881	T T	TAGAAACA others(369): Show TAGAAACATGCCCCTGACCCCACACATCCATTTCTAGAAACATGTCCCTC TGACCCACCTCCATTTCCAGAAACATGCCCCTCTGACCCACACATCCATT TCTAGAAACATGTCCCTCTGACCCCACCTCCATTTCCAGAAACATGCCCC TCTGACCCACACATCCATTTCTAGAAACATGTCCCTCTGACCCCACCTCC ATTTCCAGAAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACATG CCCCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCTCTGACCCCAC ATCCATTTCTAGAAACATGCCCCTGACCCCACACATCCATTTCTAGAAAC ATGTCCCTCTGACCCACCTCCATTTCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0144 a0001c0003t0002g0144	1	330	0.0030	376	c.132 others(393): Show c.132-4042_132-4041insGGAAATGGAGGTGGGTCAGAGGGACATG TTTCTAGAAATGGATGTGTGGGGTCAGGGGCATGTTTCTAGAAATGGATG TGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGTGGGTCAGAGGGGC ATGTTTCTAGAAATGGATGTGTGGGTCAGAGGGGCATGTTTCTGGAAATG GAGGTGGGGTCAGAGGGACATGTTTCTAGAAATGGATGTGTGGGTCAGAG GGGCATGTTTCTGGAAATGGAGGTGGGGTCAGAGGGACATGTTTCTAGAA ATGGATGTGTGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAG AGGGACATGTTTCTAGAAATGGATGTGTGGGGTCAGGGGCATGTTTCT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609417	C C	CACACATC others(369): Show CACACATCCATTTCTAGAAACATGTCCCTCTGACCCCACCTCCATTTCTA GAAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACATGCCCCTCT GACCCACACCTCCATTTCTAGAAACATGCCCCTGACCCCACACATCCATT TCTAGAAACATGTCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCT CTGACCCACCTCCATTTCTAGAAACATGTCCCTCTGACCCACACCTCCAT TTCTAGAAACATGCCCCTGACCCCACACATCCATTTCTAGAAACATGCCC CTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCTGACCCCACACATC CATTTCTAGAAACATGTCCCTCTGACT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00735.hp1 others(37): Show HG00280.hp1 HG00597.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01243.hp2 HG01261.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG03704.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18967.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18994.hp2 NA18998.hp1 NA19054.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19080.hp1 NA19082.hp1 NA19087.hp1 NA19090.hp2 NA20905.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0003 a0001c0019 a0004c0010 others(1): Show a0001c0003 a0001c0019 a0004c0010 a0006c0009	a0001c0003t0002 a0001c0003t0022 a0001c0003t0023 others(4): Show a0001c0003t0002 a0001c0003t0022 a0001c0003t0023 a0001c0003t0026 a0001c0019t0002 a0004c0010t0002 a0006c0009t0002	a0001c0003t0002g0001 a0001c0003t0002g0024 a0001c0003t0002g0025 others(32): Show a0001c0003t0002g0001 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0117 a0001c0003t0002g0128 a0001c0003t0002g0130 a0001c0003t0002g0136 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0143 a0001c0003t0002g0146 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0164 a0001c0003t0002g0171 a0001c0003t0002g0179 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0256 a0001c0003t0002g0264 a0001c0003t0022g0257 a0001c0003t0023g0162 a0001c0003t0026g0285 a0001c0019t0002g0174 a0004c0010t0002g0173 a0006c0009t0002g0126	40	330	0.1212	376	c.132 others(393): Show c.132-4578_132-4577insAGTCAGAGGGACATGTTTCTAGAAATGG ATGTGTGGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGG GGCATGTTTCTAGAAATGGATGTGTGGGGTCAGGGGCATGTTTCTAGAAA TGGAGGTGTGGGTCAGAGGGACATGTTTCTAGAAATGGAGGTGGGTCAGA GGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGGGACATGTTTCTAGAA ATGGATGTGTGGGGTCAGGGGCATGTTTCTAGAAATGGAGGTGTGGGTCA GAGGGGCATGTTTCTAGAAATGGATGTGTGGGTCAGAGGGGCATGTTTCT AGAAATGGAGGTGGGGTCAGAGGGACATGTTTCTAGAAATGGATGTGT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GPATCH2_chr1_217421992_217636090	217524848	G G	GTGGAAAG others(369): Show GTGGAAAGGGGGAGGAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	188	0.0053	376	c.109 others(395): Show c.1099-9960_1099-9959insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCCTCCCCCTTTCCA	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATA others(369): Show TATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATA TATATTTATATTTATTTATAAATAAATATATATAAATATATATAAATATA TATTTATATTTATTTGTAAATAAATATATATAAATATATATAAATATATA TTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTATT TATAAATAAATATATATAAATATATATTTATATTTATTTATATATAAATA TATAAATATATATTTATAGTTATTTATATATAAATATATAAATATATATT TATAGTTATTTATATATAAATATATAAATATATATTTATAGTTATTTATA TATAAATATATAAATCTATATATATAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp1 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0029 a0001c0003t0002g0030	2	208	0.0096	376	c.-97 others(393): Show c.-97-2095_-97-2094insTAAATATATATTTATATTTATTTATAAA TAAATATATATAAATATATATTTATATTTATTTATAAATAAATATATATA AATATATATAAATATATATTTATATTTATTTGTAAATAAATATATATAAA TATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATA TATATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATT TATTTATATATAAATATATAAATATATATTTATAGTTATTTATATATAAA TATATAAATATATATTTATAGTTATTTATATATAAATATATAAATATATA TTTATAGTTATTTATATATAAATATATAAATCTATATATATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPSM1_chr9_136322539_136364601	136355402	G G	GGGTGACA others(369): Show GGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACA CGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGG GGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGG TAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGG TGCCGAGGGTGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGG TGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGAC ACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTG GGGGAGGGGTAGCCGGGTGCCGAGGGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0170 a0001c0001t0006g0170	1	400	0.0025	376	c.145 others(393): Show c.1456-152_1456-151insCCTGGGGGAGGGGTAGCCGGGTGCCGAG GGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGTGA CACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCT GGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGG GGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCG GGTGCCGAGGGTGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAG GGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTG ACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGT	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
HCN2_chr19_584881_622159	609934	T T	TTCAACTT others(369): Show TTCAACTTTGATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCCAGTAACTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0024 a0002c0035t0024	a0002c0035t0024g0288 a0002c0035t0024g0288	1	408	0.0025	376	c.143 others(393): Show c.1438-311_1438-310insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCCAGTAACTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCAGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCAACTTTGATTTA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC4_chr2_239043168_239406020	239124637	C C	CGTTATAT others(369): Show CGTTATATGACATTCCATGTTATGTGACATTCCGGTGTGCTGGCGTGTGG CTGCGTTATATGACATTCCATGTTATGTGACATTCCGGTGTGCCGGCGTG TGGCCGCGTTATATGACATTCCAGTGTGCCGGCGTGTGGCCGCGTTATAT GACATTCCGGTGTGCCAGCGTGTGGCCGTGTTATATGACATTCCATGTTA TGTGACATTCTGGTGTGCTGGCGTGTGGCTACGTTATATGACATTCCACG TTATATGACATTCCGGTGTGCCGGCGTGTGGCCGCATTATATGACATTCT GGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCACGTTATGTGACAT TCCGGTGTGCTGGCGTGCGGCCGTGTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18954.hp1 NA18983.hp1 NA18612.hp1 NA18954.hp1 NA18983.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0017 a0001c0001 a0001c0006 a0003c0017	a0001c0001t0013 a0001c0006t0026 a0003c0017t0013 a0001c0001t0013 a0001c0006t0026 a0003c0017t0013	a0001c0001t0013g0109 a0001c0006t0026g0058 a0003c0017t0013g0220 a0001c0001t0013g0109 a0001c0006t0026g0058 a0003c0017t0013g0220	3	242	0.0124	376	c.153 others(395): Show c.1533+1818_1533+1819insAACACGGCCGCACGCCAGCACACCGG AATGTCACATAACGTGGAATGTCATATAACGCGGCCACACGCCGGCACAC CAGAATGTCATATAATGCGGCCACACGCCGGCACACCGGAATGTCATATA ACGTGGAATGTCATATAACGTAGCCACACGCCAGCACACCAGAATGTCAC ATAACATGGAATGTCATATAACACGGCCACACGCTGGCACACCGGAATGT CATATAACGCGGCCACACGCCGGCACACTGGAATGTCATATAACGCGGCC ACACGCCGGCACACCGGAATGTCACATAACATGGAATGTCATATAACGCA GCCACACGCCAGCACACCGGAATGTCACATAACATGGAATGTCATATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
IFFO2_chr1_18899280_18961676	18925894	T T	TGGTTGGA others(369): Show TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	376	0.0027	376	c.666 others(393): Show c.666-4774_666-4773insTCCATCCATCCATCCATCCAACCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322730	T T	TATATATA others(369): Show TATATATATAATATATATACGGAATATATATATAATATATATACGGAATA TATATATAATATATATACGGAATATATATATAATATATATACGGAATATA TATATACGGAATATATATATAATATATATACGGAATATATATATACGGAA TATATATATAATATATATACGGAATATATATATACGGAATATATATATAA TATATATACGGAATATATATAAACGGAATATATATATAATATATATACGG AATATATATAAACGGAATATATATATAATATATATACGGAATATATATAT ACGGAATATATATATAATATATATACGGAATATATATATAATATATATAC GGAATATATATATAATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0106	1	323	0.0031	376	c.-23 others(387): Show c.-2326_-2325insATATATATAATATATATACGGAATATATATATAA TATATATACGGAATATATATATAATATATATACGGAATATATATATAATA TATATACGGAATATATATATACGGAATATATATATAATATATATACGGAA TATATATATACGGAATATATATATAATATATATACGGAATATATATATAC GGAATATATATATAATATATATACGGAATATATATAAACGGAATATATAT ATAATATATATACGGAATATATATAAACGGAATATATATATAATATATAT ACGGAATATATATATACGGAATATATATATAATATATATACGGAATATAT ATATAATATATATACGGAATATATATATAATATATATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2239		chr21	TogoVar
INO80_chr15_40973880_41121280	41031612	A A	AGGGAGGA others(369): Show AGGGAGGAAGGGAGGGAGGGAGGGAAGGGAGGAAGGGAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGGAGGAGGGAGG AAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGG GAGGGAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAA GGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	282	0.0036	376	c.290 others(395): Show c.2908-3877_2908-3876insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTTTCTCCCTTCCTCCCT CCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCT TCCTCCCTCCTCCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTCCCTTCCTCCCTTCCCTCCCTCCCTCCCTTCCTCCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
IQSEC3_chr12_61767_183455	163240	C C	CCTCCACA others(369): Show CCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGC CCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTC CACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTC CCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0034 a0001c0019t0034	a0001c0019t0034g0244 a0001c0019t0034g0244	1	282	0.0036	376	c.258 others(393): Show c.2584-253_2584-252insTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCC TCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCC TCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCA CAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTC TCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406228	C C	CGTCTTCC others(369): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAG TGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TCACTGAGTGGACCTCTGTGACATCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0191 a0001c0001t0191	a0001c0001t0191g0166 a0001c0001t0191g0166	1	276	0.0036	376	c.60 others(385): Show c.605_*606insTAGATGTCACAGAGGTCCACTCAGTGACACACACTG AAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGCCGAGATGTCACAGAGGTCCACTCAGTGAC ACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTG ACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCAC TCAGTGACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCC ACTCAGTGACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	605		chr2	TogoVar
KCNK9_chr8_139612121_139708123	139687558	G G	GTGTACAC others(369): Show GTGTACACATATATATTCATATATATGTGTACACATATATATTCATATAT ATGTGTACACATATATATTCATATATATGTGTACACATATATATTCATAT ATATGTGTACACATATATATTCATATATATGTGTACACATATATATTCAT ATATATGTGTACACATATATATTCATATATATGTGTATACATATATATTC ATATATATGTGTATACATATATATTCATATATATGTGTATACATATATAT TCATATATATGTGTATACATATATATTCATATATATGTGTATACATATAT ATTCATATATATGTGTATACATATATATTCATATATATGTGTATACATAT ATATTCATATATATGTGTATACATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	322	0.0031	376	c.283 others(395): Show c.283+15151_283+15152insTATATGTATACACATATATATGAATA TATATGTATACACATATATATGAATATATATGTATACACATATATATGAA TATATATGTATACACATATATATGAATATATATGTATACACATATATATG AATATATATGTATACACATATATATGAATATATATGTATACACATATATA TGAATATATATGTATACACATATATATGAATATATATGTGTACACATATA TATGAATATATATGTGTACACATATATATGAATATATATGTGTACACATA TATATGAATATATATGTGTACACATATATATGAATATATATGTGTACACA TATATATGAATATATATGTGTACACATATATATGAATATATATGTGTACA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(369): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	232	0.0043	376	c.-67 others(395): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TATATATA others(369): Show TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	232	0.0043	376	c.-67 others(395): Show c.-67-49302_-67-49301insATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATATCCAAGAGGATATATATATATATATATATAT CCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL17_chr1_955584_970719	964668	G G	GCGGGTCC others(369): Show GCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGA TGTGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGG AGGGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGCCG GGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGG GGATGTGCTGCCGGGAGTGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCC GGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCG CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGT GGGGCTGTGCTGCGGGAAGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0046 a0001c0003t0008g0046	1	432	0.0023	376	c.170 others(393): Show c.1700+154_1700+155insCTGTGGGAGGGGTCCGCGCGTCCGCAGT GGGGATGTGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTG CCGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGG GGCCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGC AGTGGGGATGTGCTGCCGGGAGTGGGGCGCGGGTCCGCAGTGGGGATGTG CTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGG GGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCC GCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGCCGGGTCCGCAGTGGGG	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
LARS1_chr5_146108034_146187650	146174471	T T	TATATATC others(369): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATCCATATA TATATATCCATATATATATCCATATATATATCCATATATATATATCCATA TATATATCCATATATATATATCCATATATATATCCATATATATATATCCA TATATATATCCATATATATATATCCATATATATATCCATATATATATATC CATATATATATCCATATATATATATCCATATATATGGATATATATATATC CATATATATCTATCCATATATATATCCATATATATCTATCCATATATATA TCCATATATCTATCCATATATATATCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0254 a0002c0002t0002g0254	1	284	0.0035	376	c.126 others(393): Show c.126-1698_126-1697insGGATATATATATGGATAGATATATGGAT ATATATATGGATAGATATATATGGATATATATATGGATAGATATATATGG ATATATATATATCCATATATATGGATATATATATATGGATATATATATGG ATATATATATATGGATATATATATGGATATATATATATGGATATATATAT GGATATATATATATGGATATATATATGGATATATATATATGGATATATAT ATGGATATATATATATGGATATATATATGGATATATATATGGATATATAT ATATGGATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LINGO2_chr9_27932617_29218601	28189269	G G	GAGGAAGG others(369): Show GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGGA GGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGG AAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAA GGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG00642.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0022 a0001c0001t0016g0011 a0001c0001t0004g0022 a0001c0001t0016g0011	2	62	0.0323	376	c.-36 others(397): Show c.-36+105938_-36+105939insTCCTTCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTC CT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMF1_chr16_848634_975984	858683	G G	GAGTGGTG others(369): Show GAGTGGTGTCTCGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGACT GGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACG GGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGG ACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0005 a0003c0009t0001g0005	1	294	0.0034	376	c.153 others(395): Show c.1530-3978_1530-3977insGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACC CGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACGCG TCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACAC CAGTCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCGGTG others(369): Show CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTACCC CTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	414	0.0024	376	c.171 others(393): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGG GGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(369): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATATATATACAATATATAATTATATA TTATATAATTATATATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATATATTATATATAATATATAATT ATATATTATATAATAATATATAATTATTAATATATAATTATATATAATAT ATAATTATATATTATATAATAATATATAATTATATATTATATATAATTAT ATATTATATAATAACATATAATTATATATAATATATAAATATATAATATA TAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04199.hp2 HG03654.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0091 a0001c0001t0001g0104	2	316	0.0063	376	c.622 others(391): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATATATATACAATATATAATTATATAT TATATAATTATATATAATATATAATTATATATTATATATAATATATAATT ATATATTATATAATAATATATAATTATATATTATATATAATATATAATTA TATATTATATAATAATATATAATTATTAATATATAATTATATATAATATA TAATTATATATTATATAATAATATATAATTATATATTATATATAATTATA TATTATATAATAACATATAATTATATATAATATATAAATATATAATATAT AAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247664	A A	ATATTTAT others(369): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGTTGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATCTATATAAATATACATATTTATACACAGATCTATATAAATATAC ATATTTATACACAGATCTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02717.hp1 others(2): Show HG02257.hp2 HG02647.hp2 HG02717.hp1 HG02965.hp2 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004	a0003c0004t0001g0288 a0003c0004t0002g0294 a0003c0004t0004g0290 others(2): Show a0003c0004t0001g0288 a0003c0004t0002g0294 a0003c0004t0004g0290 a0003c0004t0004g0292 a0003c0004t0004g0293	5	382	0.0131	376	c.839 others(393): Show c.839-2162_839-2161insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGTTGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATA CACAGATCTATATAAATATACATATTTATACACAGATCTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(369): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATCTATATAAATATAC ATATTTATACACAGATCTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03239.hp2 NA20752.hp1 HG01258.hp1 HG03239.hp2 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0004 a0003c0004t0001 a0003c0004t0004	a0003c0004t0001g0301 a0003c0004t0004g0286 a0003c0004t0004g0287 a0003c0004t0001g0301 a0003c0004t0004g0286 a0003c0004t0004g0287	3	382	0.0079	376	c.839 others(393): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATCTATATAAATATACATATTTATACACAGATCTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(369): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG01109.hp1 others(10): Show HG00099.hp1 HG00621.hp2 HG01109.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG02148.hp1 HG02486.hp1 NA18985.hp2 NA18989.hp1 NA19005.hp2 NA19010.hp1	a0001 a0004 a0021 others(1): Show a0001 a0004 a0021 a0033	a0001c0003 a0001c0005 a0004c0006 others(2): Show a0001c0003 a0001c0005 a0004c0006 a0021c0052 a0033c0054	a0001c0003t0003 a0001c0005t0003 a0001c0005t0005 others(4): Show a0001c0003t0003 a0001c0005t0003 a0001c0005t0005 a0004c0006t0001 a0004c0006t0008 a0021c0052t0005 a0033c0054t0005	a0001c0003t0003g0278 a0001c0005t0003g0205 a0001c0005t0005g0195 others(10): Show a0001c0003t0003g0278 a0001c0005t0003g0205 a0001c0005t0005g0195 a0001c0005t0005g0196 a0001c0005t0005g0197 a0001c0005t0005g0198 a0001c0005t0005g0199 a0001c0005t0005g0200 a0001c0005t0005g0302 a0004c0006t0001g0342 a0004c0006t0008g0356 a0021c0052t0005g0362 a0033c0054t0005g0204	13	382	0.0340	376	c.839 others(393): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(369): Show ATATTTATACACAGTTGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATCTAT ATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATAC ACAGATCTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02723.hp1 HG02451.hp1 HG02572.hp2 HG02723.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0280 a0003c0004t0004g0289 a0003c0004t0004g0291 a0003c0004t0004g0280 a0003c0004t0004g0289 a0003c0004t0004g0291	3	382	0.0079	376	c.839 others(393): Show c.839-2098_839-2097insTATTTATACACAGTTGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATCTATATAAATATACATATTTATACACAGATCTA TATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LSP1_chr11_1848084_1897263	1871845	A A	AGGCAGGC others(369): Show AGGCAGGCCTGGGCTGTAGTCACCCTGGCACATGCTGGTAGAGTTGGGGT CTGTCTGGCTGGCGTGGGCACTTTTGGGAGGGGGGGTGTGTGGCGGGCAG GCCTGGGCTGTAGTCACCCTGGCGCACGCTGGTAGAGTTGGGGTCTGTCT GGCTGGTGTTGGCACCTTTGGGACGGGGTGTGTGTGGCAGGCAGGCCTGG GCTATAGTCACCCTGGTGCACGCTGGTAGAGTTGGGGTCTGTCTGGCTGG CGTGGGCACTTTTGGGAGGGGGTGTGTGTGGCGGGCAGGCCTGGGCTGCA GTCACCCTGGTGCATGCTGGTAGAGTTGGGGTCTGTCCGGCTGGCGTGGG CACCTTTGGGACGGGGTGTGTGTGGTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0217 a0003c0004t0001g0217	1	360	0.0028	376	c.54- others(391): Show c.54-8214_54-8213insACATGCTGGTAGAGTTGGGGTCTGTCTGGC TGGCGTGGGCACTTTTGGGAGGGGGGGTGTGTGGCGGGCAGGCCTGGGCT GTAGTCACCCTGGCGCACGCTGGTAGAGTTGGGGTCTGTCTGGCTGGTGT TGGCACCTTTGGGACGGGGTGTGTGTGGCAGGCAGGCCTGGGCTATAGTC ACCCTGGTGCACGCTGGTAGAGTTGGGGTCTGTCTGGCTGGCGTGGGCAC TTTTGGGAGGGGGTGTGTGTGGCGGGCAGGCCTGGGCTGCAGTCACCCTG GTGCATGCTGGTAGAGTTGGGGTCTGTCCGGCTGGCGTGGGCACCTTTGG GACGGGGTGTGTGTGGTGGGCAGGCCTGGGCTGTAGTCACCCTGGC	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
MLC1_chr22_50054391_50090426	50057392	G G	GGGTCAGG others(369): Show GGGTCAGGTCTGGGTTGGGGGATCAGGTCTGGATTGTGGGTCAGGTCTGG GTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCTGGGTTGAGCGGGAGGT CTGGGTTGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAG GTCTGGGTTGAGCGGGAGGTCTGGGTTGGGGATCAGGTCTGGGTTGGGGT CAGGTCTGGGTTGGGGTCAGGTCTGGGTTGTGGGTCAGGTCTGGGTTGAG CGGGAGGTCTGGGTTGTGGGTCAGGTCTGGGTTGAGCGGGAGGTCTGGGT TGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCT GGGTTGAGCGGGAGGTCTGGGTTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01891.hp1 others(12): Show HG00741.hp2 HG01109.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02970.hp1 HG02970.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0003c0003t0001g0066 a0003c0003t0001g0068	15	212	0.0708	376	c.41 others(387): Show c.4190_*4191insTCACAACCCAGACCTCCCGCTCAACCCAGACCTG ACCCCCCAACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAGA CCTCCCGCTCAACCCAGACCTGACCCACAACCCAGACCTCCCGCTCAACC CAGACCTGACCCACAACCCAGACCTGACCCCAACCCAGACCTGACCCCAA CCCAGACCTGATCCCCAACCCAGACCTCCCGCTCAACCCAGACCTGACCC CAACCCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAGACCTCCC GCTCAACCCAGACCTGACCCCCCAACCCAGACCTGACCCCAACCCAGACC TGACCCACAATCCAGACCTGATCCCCCAACCCAGACCTGACC	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding		1998		chr22	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(369): Show TATATATACAATATTATATATAATATATATAATATATATACAATATTATA TATATTATATATATATACATATATATGTATATATACATATATAATATGTA TATATGTATATATATATGTATAATATATATATTGTATATATATATTATAC ATATGTATATATATATTATACATATATATGTATAATATATATAATGTATA TATATATACATATTATATATTATATATAATATATACATATATATTATATA TAATATATACATATTATATATTATATATATAATATATATACATATTATAT TATATATAATATATATACATATTACATATATTATATATAATATATATACA TATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0126 a0002c0003t0001g0126	1	332	0.0030	376	c.262 others(395): Show c.2620-6191_2620-6190insCAATATTATATATAATATATATAATA TATATACAATATTATATATATTATATATATATACATATATATGTATATAT ACATATATAATATGTATATATGTATATATATATGTATAATATATATATTG TATATATATATTATACATATGTATATATATATTATACATATATATGTATA ATATATATAATGTATATATATATACATATTATATATTATATATAATATAT ACATATATATTATATATAATATATACATATTATATATTATATATATAATA TATATACATATTATATTATATATAATATATATACATATTACATATATTAT ATATAATATATATACATATATAATATATTATATATTATATATAATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(369): Show TATATATACAATATTATATATATTATATATAATATATATACAATATTATA TATATTATATATATATACATATATATGTATATATACATATATAATATGTA TATATGTATATATATATGTATAATATATATATTGTATATATATATTATAC ATATGTATATATATATTATACATATATATGTATAATATATATAATGTATA TATATATACATATTATATATTATATATAATATATACACATATATTATATA TAATATATACATATTATATATTATATATATAATATATATACATATTATAT TATATATAATATATATACATATTACATATATTATATATAATATATATACA TATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0116 a0002c0003t0001g0116	1	332	0.0030	376	c.262 others(395): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TATATACAATATTATATATATTATATATATATACATATATATGTATATAT ACATATATAATATGTATATATGTATATATATATGTATAATATATATATTG TATATATATATTATACATATGTATATATATATTATACATATATATGTATA ATATATATAATGTATATATATATACATATTATATATTATATATAATATAT ACACATATATTATATATAATATATACATATTATATATTATATATATAATA TATATACATATTATATTATATATAATATATATACATATTACATATATTAT ATATAATATATATACATATATAATATATTATATATTATATATAATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(369): Show TATATATACAATATTATATATATTATATATAATATATATACAATATTATA TATATTATATATATATACATATATATGTATATATACATATATAATATGTA TATATGTATATATATATGTATAATATATATATTGTATATATATATTATAC ATATGTATATATATATTATACATATATATGTATAATATATATAATGTATA TATATATACATATTATATATTATATATAATATATACATATATATTATATA TAATATATACATATTATATATTATATATATAATATATATACATATTATAT TATATATAATATATATACATATTACATATATTATATATAATATATATACA TATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(37): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02300.hp2 HG02451.hp1 HG02683.hp1 HG02809.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18944.hp1 NA18964.hp1 NA18985.hp1 NA19043.hp2 NA19057.hp2 NA19074.hp1 NA19078.hp1 NA19089.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0009 a0001c0002 a0002c0003 a0002c0009	a0001c0002t0001 a0002c0003t0001 a0002c0009t0001 a0001c0002t0001 a0002c0003t0001 a0002c0009t0001	a0001c0002t0001g0002 a0002c0003t0001g0001 a0002c0003t0001g0003 others(36): Show a0001c0002t0001g0002 a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0010 a0002c0003t0001g0017 a0002c0003t0001g0083 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0090 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0155 a0002c0009t0001g0127	40	332	0.1205	376	c.262 others(395): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TATATACAATATTATATATATTATATATATATACATATATATGTATATAT ACATATATAATATGTATATATGTATATATATATGTATAATATATATATTG TATATATATATTATACATATGTATATATATATTATACATATATATGTATA ATATATATAATGTATATATATATACATATTATATATTATATATAATATAT ACATATATATTATATATAATATATACATATTATATATTATATATATAATA TATATACATATTATATTATATATAATATATATACATATTACATATATTAT ATATAATATATATACATATATAATATATTATATATTATATATAATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(369): Show TATATATACAATATTATATATATTATATATTATATATACAATATTATATA TATTATATATATATACATATATATGTATATATACATATATAATATGTATA TATGTATATATATATGTATAATATATATATTGTATATATATATTATACAT ATGTATATATATATTATACATATATATGTATAATATATATAATGTATATA TATATATACATATTATATATTATATATAATATATACATATATATTATATA TAATATATACATATTATATATTATATATATAATATATATACATATTATAT TATATATAATATATATACATATTACATATATTATATATAATATATATACA TATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0329 a0001c0002t0004g0329	1	332	0.0030	376	c.262 others(395): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATTATA TATACAATATTATATATATTATATATATATACATATATATGTATATATAC ATATATAATATGTATATATGTATATATATATGTATAATATATATATTGTA TATATATATTATACATATGTATATATATATTATACATATATATGTATAAT ATATATAATGTATATATATATATACATATTATATATTATATATAATATAT ACATATATATTATATATAATATATACATATTATATATTATATATATAATA TATATACATATTATATTATATATAATATATATACATATTACATATATTAT ATATAATATATATACATATATAATATATTATATATTATATATAATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767972	G G	GTGGGGGG others(369): Show GTGGGGGGGTGTGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGCGCGTGG AGGGGGGGCGTGTGGGGGGGGCCGCGTGGGGGGGCGTGGAGGAGGGGCGC GTGGAAGGGGCCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGG CGCGTGGGGGGGCGCATGGGGGGGGCGCATGGGGGGGTGTGGAGGGGGGC GCGTGGAGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGGAGCGTGGGGGG GCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGGCGAGTGGAGGAGGAGGGGCGCATGGGGGGGGT GTGGAGGGGGGCGCGTGGGGGGGCGCA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0214 a0002c0003t0004g0214	1	388	0.0026	376	c.159 others(393): Show c.1597-399_1597-398insTGTGGAGGGGGGCGCATGGGGGTGCGTG GGGGGGCGCGTGGAGGGGGGGCGTGTGGGGGGGGCCGCGTGGGGGGGCGT GGAGGAGGGGCGCGTGGAAGGGGCCGCGTGGGGGGGCGTGGAGGAGGGGC GCGTGGAGGGGGGCGCGTGGGGGGGCGCATGGGGGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGGGGCGCGTGGAGGGG GGAGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGG GGGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGAGTGGAGGAGGAGGGGC GCATGGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGCGCATGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(369): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGT GGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTA GTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGAC CATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTAGTGTTCTGGTGGTAGTAGTGTTGGTTGTGG TGGTAGTCGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	384	0.0026	376	c.160 others(393): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACGACTACCAC CACAACCAACACTACTACCACCAGAACACTACCACCATCACCACCACCAC CATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGG TCACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACT ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCA CCACCACCATCGCCGCCACCACCACCACCACCACCATCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYO7A_chr11_77123246_77220241	77193129	C C	CGATGCTG others(369): Show CGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAG GTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGTTGGT GGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATGG TGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTG TTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGAT GGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGATGGTGGAGGTGG TGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGT GATGCTGTTGGTGATGGTGGAGGTAGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0002	2	356	0.0056	376	c.415 others(393): Show c.4152+909_4152+910insGTGTTGGTGATGGTGGAGGTAGTGATGG TGTTGGTGTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATG CTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGT AGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGG TGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTG ATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGA TGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGCTGTTG GTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(369): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTATGT ATTATATATCGATATATAATACACATCTATGTATTATATATCTATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTCTGTATTATATATCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02738.hp1 HG02486.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0126 a0001c0001t0003g0046 a0001c0001t0001g0126 a0001c0001t0003g0046	2	170	0.0118	376	c.332 others(395): Show c.332+40056_332+40057insTATAATACACATCTATGTATTATATA TCGATATATAATACACATCTATGTATTATATATCTATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATA TATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTCTGTATTATATATCGATAATACACATCTATGTATTATATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084638	T T	TATATCGA others(369): Show TATATCGATAATACACATCTATGTATTATATATCGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATA TATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	170	0.0059	376	c.332 others(395): Show c.332+40394_332+40395insTATATCGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATA TATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTACATATCGATAATACACATCTATGTATTA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NBDY_chrX_56724243_56824179	56725501	G G	GTAACAAT others(369): Show GTAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATAT TGTTATATATACATATAACAATATTGTTATATTGTTATATATACATATAA CAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTT ATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAAT ATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATAT ATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATTG TTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATAC ATATAACAATATTGTTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	160	0.0063	376	c.-38 others(387): Show c.-3853_-3852insTAACAATATTGTTATATTGTTATATATACATATA ACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGT TATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAA TATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATA TATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATT GTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATA CATATAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTA TATTGTTATATATACATATAACAATATTGTTATATATACATA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding		3741		chrX	TogoVar
NBDY_chrX_56724243_56824179	56725506	A A	AATATTGT others(369): Show AATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTA TATATACATATAACAATATTGTTATATTGTTATATATACATATAACAATA TTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATA TACATATAACAATATTGTTATATTGTTATATATACATATAACAATATTGT TATATTGTTATATATACATATAACAATATTGTTATATATACATATAACAA TATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATA TATACATATAACAATATTGTTATATATACATATAACAATATTGTTATATT GTTATATATACATATAACAATATTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	160	0.0063	376	c.-38 others(387): Show c.-3848_-3847insATATTGTTATATTGTTATATATACATATAACAAT ATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATAT ATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATTG TTATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATAC ATATAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTAT ATATACATATAACAATATTGTTATATTGTTATATATACATATAACAATAT TGTTATATTGTTATATATACATATAACAATATTGTTATATATACATATAA CAATATTGTTATATTGTTATATATACATATAACAATATTGTT	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding		3736		chrX	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCGGTG others(369): Show CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTACCC CTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	384	0.0026	376	c.-41 others(387): Show c.-4100_-4099insCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCK2_chr2_105739912_105899272	105807771	C C	CCTCCCTC others(369): Show CCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTCTATCCCTC CCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTGTATCCCTC CCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTATCTCTCCCTC CCTCCCTCCCTTCTATCTCTCCCTCCCTCCCTCCCTTCTCTCTATCTCTC CCTCCCTCCCTTCTCTCTATCTCTCCCTCCCTCCCTCCCTTCTCTCTCTC CCTCCCTTCCCTCTATCCCTCCCTCCCTCCCTCCCTTCTCTCTCTCCCTC CCTCCCTTCTATCTCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTT CTCTCTCTCCCTCCCTCCCTTCTCTCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG02976.hp2 HG02723.hp1 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0323 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0323	3	334	0.0090	376	c.-20 others(395): Show c.-200-8639_-200-8638insCCTCCCTCCCTCCCTTCCCTCTATCC CTCCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTGTATCC CTCCCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTATCTCTCC CTCCCTCCCTCCCTTCTATCTCTCCCTCCCTCCCTCCCTTCTCTCTATCT CTCCCTCCCTCCCTTCTCTCTATCTCTCCCTCCCTCCCTCCCTTCTCTCT CTCCCTCCCTTCCCTCTATCCCTCCCTCCCTCCCTCCCTTCTCTCTCTCC CTCCCTCCCTTCTATCTCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCC CTTCTCTCTCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCTCTC	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(369): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATG TATGTATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTG TATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTAT ACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTA TACTGTATATATACACTATACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0344 a0001c0003t0005g0344	1	362	0.0028	376	c.-75 others(395): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCAT ACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACATACAGTATACAT ACATACAGTATACATACATACAGTATACATGCTGTACACAGTATACATGC TGTACACAGTATACATGCTGTACACAGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571082	T T	TCTGCGTC others(369): Show TCTGCGTCTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTG TGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTGTGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	376	c.26 others(387): Show c.2663_*2664insCTGCGTCTGCCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1588		chr16	TogoVar

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