Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTCC others(339): Show TCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCC TCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTAC CCTTCCCCCTCACCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCC CCACCTTCCCTGTCCCCCCCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCT TTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0012 a0001c0001t0016g0012	1	290	0.0035	346	c.972 others(361): Show c.972+262_972+263insCCTTCCCCCTCCCCTCCTTCCCCCTCCCCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTC CCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCT CCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTT CCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCTCCCTC CCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCCCCTTCCCCCTTCCCCCT CCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTC CTTCCCCTTTCCCCCT	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPC5_chr13_91393621_92872237	92347919	A A	ACAATATA others(339): Show ACAATATATATATTATATATTATATATATTATATATATAAAATATATAAT ATATAATATATATATTATATATATAATATATATATTATATATATAATATA TATAATATATAATATATATATAGTATATATAATATATATATTATATATTA TATATTATATATATTATATATATAATATATAATATATATATTATATATTA TATATTATATATATAATATATATATTATATATTATATATTATATATATAA TATATATATTATATATAATATATATAATATATATATTATATATAATATAT ATAATATATATATTATATATAATATATAATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	42	0.0238	346	c.156 others(369): Show c.1561+202930_1561+202931insCAATATATATATTATATATTAT ATATATTATATATATAAAATATATAATATATAATATATATATTATATATA TAATATATATATTATATATATAATATATATAATATATAATATATATATAG TATATATAATATATATATTATATATTATATATTATATATATTATATATAT AATATATAATATATATATTATATATTATATATTATATATATAATATATAT ATTATATATTATATATTATATATATAATATATATATTATATATAATATAT ATAATATATATATTATATATAATATATATAATATATATATTATATATAAT ATATAATATATATAATATATATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7			chr13	TogoVar
GPR158_chr10_25170001_25607229	25198985	T T	TAAAATAT others(339): Show TAAAATATTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03041.hp2 HG02818.hp1 HG03041.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0006 a0005c0005t0001 a0005c0005t0006	a0005c0005t0001g0073 a0005c0005t0006g0071 a0005c0005t0001g0073 a0005c0005t0006g0071	2	162	0.0124	346	c.903 others(365): Show c.903-22056_903-22055insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATATTTCT	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR174_chrX_79139688_79180318	79160132	T T	TCAAGAAA others(339): Show TCAAGAAAAATGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC TACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03927.hp2 HG00735.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0022 a0002c0002t0020g0022	2	315	0.0064	346	c.-55 others(365): Show c.-557+3232_-557+3233insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAAGAAAAATGAGTCTTT	GPR174	ENSG00000147138.3	transcript	ENST00000645147.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRB7_chr17_39732938_39752285	39735372	T T	TTTTTTTT others(339): Show TTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	346	c.-28 others(357): Show c.-2812_-2811insTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	GRB7	ENSG00000141738.14	transcript	ENST00000309156.9	protein_coding		2565		chr17	TogoVar
GRM1_chr6_146024062_146442601	146369544	T T	TTTAAATT others(339): Show TTTAAATTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02895.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0149 a0001c0001t0002g0150	2	158	0.0127	346	c.160 others(367): Show c.1602+11865_1602+11866insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCG CCCGGCCTTAAATTTTCTTCTT	GRM1	ENSG00000152822.15	transcript	ENST00000282753.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(339): Show AGGAGGGGCAGGAGCGGGGGAGGGGCGGGGGAGGGCCGGGGGAGGGGCAG GGGAGCACCCAGGGCGGGGGAGGGGCGGGGCTGGGGGGGGGGCGGGAGGA CTTGGGGAGAGAGGAGGGGCAGGAGCGGGGGAGGGGCAGGGGAGCACCCA GGGCGGGGGAGGGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGA GGGGCAGGAGCGGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGG AGGGGCGGGGCTGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGG AGGGGGAGGGGAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG03540.hp2 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0178 a0001c0001t0002g0152 a0001c0001t0002g0178	2	288	0.0069	346	c.-39 others(355): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCC GCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCGCTCCTGCCCCTCCT CTCTCCCCAAGTCCTCCCGCCCCCCCCCCAGCCCCGCCCCTCCCCCGCCC TGGGTGCTCCCCTGCCCCTCCCCCGGCCCTCCCCCGCCCCTCCCCCGCTC CTGCCCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		315		chr13	TogoVar
GSDMC_chr8_129743196_129791624	129769681	G G	GCCCAATC others(339): Show GCCCAATCACCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02258.hp1 HG00733.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	416	0.0048	346	c.405 others(363): Show c.405-3889_405-3888insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGAGGTGATTGGG	GSDMC	ENSG00000147697.10	transcript	ENST00000276708.9	protein_coding	3/13			chr8	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(339): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCT CCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0245 a0001c0002t0001g0245	1	290	0.0035	346	c.427 others(363): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCC TCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HIBADH_chr7_27520442_27667883	27641771	C C	CAACAAAT others(339): Show CAACAAATGCTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGG CAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	326	0.0031	346	c.252 others(363): Show c.252+7701_252+7702insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCAACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCGAAAGCATTTGTT	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	2/7			chr7	TogoVar
HLA-C_chr6_31263749_31277092	31264271	T T	TAAAAAAA others(339): Show TAAAAAAAAATTAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCTGCAGTCCGACCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0005 a0009c0009t0005	a0009c0009t0005g0009 a0009c0009t0005g0009	1	449	0.0022	346	c.48 others(357): Show c.4897_*4898insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCAGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGCT TAATTTTTTTTT	HLA-C	ENSG00000204525.18	transcript	ENST00000376228.10	protein_coding		4477		chr6	TogoVar
HMOX1_chr22_35376096_35399207	35397411	A A	ATAGAGGT others(339): Show ATAGAGGTATTTTATTTTATTTTATTTTATTTTTATTTTATTTTATTTTT TTTTTTTTTGAGACGGAGTCTCGCTGTGTCGCCCAGGCCAGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAAGATCCACCCGCCTCA GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0350 a0001c0006t0002g0350	1	384	0.0026	346	c.38 others(357): Show c.3813_*3814insTAGAGGTATTTTATTTTATTTTATTTTATTTTTA TTTTATTTTATTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCGCCCA GGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAA GATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding		3205		chr22	TogoVar
HMOX1_chr22_35376096_35399207	35397411	A A	ATAGAGGT others(339): Show ATAGAGGTATTTTATTTTATTTTATTTTATTTTTTTTTTATTTTATTTTT TTTTTTTTTGAGACGGAGTCTCGCTGTGTCGCCCAGGCCAGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAAGATCCACCCGCCTCA GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01069.hp1 HG01071.hp2 others(32): Show HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01346.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG03041.hp2 HG03831.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19056.hp1 NA19063.hp2 NA19065.hp1 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19088.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0005 a0001c0001 a0002c0002 a0007c0005	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0007c0005t0001	a0001c0001t0001g0133 a0001c0001t0001g0176 a0001c0001t0001g0181 others(32): Show a0001c0001t0001g0133 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0218 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0005g0093 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0007c0005t0001g0326	35	384	0.0912	346	c.38 others(357): Show c.3813_*3814insTAGAGGTATTTTATTTTATTTTATTTTATTTTTT TTTTATTTTATTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCGCCCA GGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAA GATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding		3205		chr22	TogoVar
HMOX1_chr22_35376096_35399207	35397411	A A	ATAGAGGT others(339): Show ATAGAGGTATTTTATTTTATTTTATTTTTTTTTTTTTTTATTTTATTTTT TTTTTTTTTGAGACGGAGTCTCGCTGTGTCGCCCAGGCCAGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAAGATCCACCCGCCTCA GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG02976.hp1 others(3): Show HG01891.hp2 HG02717.hp2 HG02976.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0246 a0001c0001t0001g0247 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0281	6	384	0.0156	346	c.38 others(357): Show c.3813_*3814insTAGAGGTATTTTATTTTATTTTATTTTTTTTTTT TTTTATTTTATTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCGCCCA GGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAA GATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding		3205		chr22	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(339): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp1 NA18961.hp2 others(2): Show HG00642.hp2 HG00735.hp1 NA18961.hp2 NA19067.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0013g0015 a0001c0001t0001g0001 a0001c0001t0013g0015	5	348	0.0144	346	c.53 others(357): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
IFI44L_chr1_78615448_78651145	78645262	T T	TAAGAATG others(339): Show TAAGAATGTGTATTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0129 a0005c0010t0129	a0005c0010t0129g0067 a0005c0010t0129g0067	1	430	0.0023	346	c.34 others(357): Show c.3469_*3470insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA ATGTGTATTGTT	IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding	9/9	3470	INFO_REALIGN_3_PRIME	chr1	TogoVar
IFI44_chr1_78644831_78669073	78645262	T T	TAAGAATG others(339): Show TAAGAATGTGTATTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	448	0.0022	346	c.-46 others(357): Show c.-4654_-4653insAAGAATGTGTATTGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCA ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	IFI44	ENSG00000137965.11	transcript	ENST00000370747.9	protein_coding		4568		chr1	TogoVar
INPP5D_chr2_233055342_233212903	233082337	T T	TTGATCTC others(339): Show TTGATCTCTGCCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGACTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0135 a0002c0002t0004g0135	1	310	0.0032	346	c.198 others(363): Show c.198+2956_198+2957insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGACTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTGATCTCTGCCTATTTT	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
IPO11_chr5_62407763_62633582	62561275	T T	TAAAATTT others(339): Show TAAAATTTGTTTCTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	330	0.0030	346	c.258 others(361): Show c.2582+34_2582+35insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATTTGTTTCTTTC	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	27/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPP_chr1_45693711_45755653	45735955	C C	CAAAAAAT others(339): Show CAAAAAATTATCCGGGCGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	128	0.0078	346	c.724 others(363): Show c.724+4945_724+4946insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC ACGCCCGGATAATTTTTT	IPP	ENSG00000197429.11	transcript	ENST00000396478.4	protein_coding	3/8			chr1	TogoVar
IQCH_chr15_67249786_67506804	67352556	T T	TGAAAGTT others(339): Show TGAAAGTTATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18979.hp1 HG02922.hp2 NA18979.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0032 a0003c0004t0001g0063 a0001c0001t0001g0032 a0003c0004t0001g0063	2	276	0.0073	346	c.638 others(363): Show c.638-4779_638-4778insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA AAAAAAAAGAAAGTTATC	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(339): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTC CCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18522.hp2 NA19043.hp1 HG03540.hp2 NA18522.hp2 NA19043.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0003 a0003c0005 a0005c0013 a0001c0003 a0003c0005 a0005c0013	a0001c0003t0001 a0003c0005t0028 a0005c0013t0009 a0001c0003t0001 a0003c0005t0028 a0005c0013t0009	a0001c0003t0001g0267 a0003c0005t0028g0228 a0005c0013t0009g0246 a0001c0003t0001g0267 a0003c0005t0028g0228 a0005c0013t0009g0246	3	282	0.0106	346	c.258 others(363): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTC CTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCT GTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(339): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTC CCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG03516.hp2 HG02630.hp2 HG02647.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0060 a0002c0001t0024 a0001c0004t0060 a0002c0001t0024	a0001c0004t0060g0217 a0002c0001t0024g0017 a0002c0001t0024g0177 a0001c0004t0060g0217 a0002c0001t0024g0017 a0002c0001t0024g0177	3	282	0.0106	346	c.258 others(363): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTC CTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCT GTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRF2_chr4_184382729_184479550	184422042	C C	CAAAACAG others(339): Show CAAAACAGCCTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	376	0.0027	346	c.88- others(361): Show c.88-2475_88-2474insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCGACAGGCTGTTTT	IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	2/8			chr4	TogoVar
JAK1_chr1_64828229_64971549	64881262	T T	TAAAAAAT others(339): Show TAAAAAATATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18522.hp1 HG02132.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0230 a0001c0003t0001g0020 a0001c0003t0001g0230	2	326	0.0061	346	c.205 others(363): Show c.205+2014_205+2015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC AAAATTTTAATATTTTTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62759565	T T	TAGGGTAT others(339): Show TAGGGTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGCCTGGAGGGCAG TGGCGCGATCTCCGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAC GCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TATTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19000.hp1 NA18950.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0179 a0001c0001t0003g0166 a0001c0001t0003g0179	2	224	0.0089	346	c.201 others(367): Show c.2019+20162_2019+20163insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGA GATCAAGACCATCCTGGCTAATATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCT TGCAGTGAGCGGAGATCGCGCCACTGCCCTCCAGGCTGGGTGACAGAGCA AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAATATACCCT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	10/10			chr14	TogoVar
KCNJ6_chr21_37602373_37921457	37832175	A A	AGTCAAGT others(339): Show AGTCAAGTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0129 a0001c0001t0038g0129	1	198	0.0051	346	c.25+ others(361): Show c.25+8482_25+8483insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGTAACTTGAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(339): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	232	0.0043	346	c.-67 others(365): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGATATATATATATATATATC CAAGAGGATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA TATATATATATATATATATATCCAAGAGGATATATATATATATATATATA TCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758709	G G	GATATATA others(339): Show GATATATATATATATATATCTCCAAGAGGAGATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATCTCCAAAAGGAGATATA TATATATATATATATCTCCAAGAGGAGATATATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATATATCTCCTCTTGGAGA TATATATATATATATATATATCTCCAAGAGGAGATATATATATATATATC TCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	232	0.0043	346	c.-67 others(365): Show c.-67-48586_-67-48585insATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAAAGGAGATATATATATATATATATATCTCCAAGAGG AGATATATATATATATATATATATATCTCCAAGAGGAGATATATATATAT ATATATATATATCTCCTCTTGGAGATATATATATATATATATATATCTCC AAGAGGAGATATATATATATATATCTCCAAGAGGAGATATATATATATAT CTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGG AGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0319_chr6_24539107_24651191	24565343	T T	TAGAAATG others(339): Show TAGAAATGGCAGGAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0034 a0007c0011t0034	a0007c0011t0034g0143 a0007c0011t0034g0143	1	300	0.0033	346	c.229 others(365): Show c.2293-1004_2293-1003insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCCATTCCTGCCATTTCT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding	14/20			chr6	TogoVar
KIAA0930_chr22_45187244_45245894	45228935	C C	CCACCACT others(339): Show CCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCACCACTCACCCGA AAGATCCCTCTCCACCCCCCTACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCACACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CAAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTC ACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATC CCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCC CCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0208 a0001c0001t0015g0208	1	398	0.0025	346	c.64+ others(363): Show c.64+11704_64+11705insTTTGGTGGTTGGGGGGTGGAGAGGGATC TTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGG TGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGT GGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGA TCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGG TGAGTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTAG GGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGATGGGGAGGGA TCTTTCGGGTGAGTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1549L_chr11_33371108_33679102	33403294	C C	CACGCAGA others(339): Show CACGCAGACACACAGACACGCAGACACAGATACACATACAGACATACACA CAGGGACACACACAGAGACTCAGGGACACACACACACAGACACACAGACA TAGACATATGCAGACACACACAGACACACACATGCAGACACAGACACACA TGGACACACACATGCAGACACGCGGACAGACACACAGACACAGAGACACA CACGCAGACAGAGACACAGACATACACAGAGACCCAGGGACACACACACA CATATGCAGACACACAGAAACACACAGACACACATAGACACATGCACACA CACATGCAGACACACACAGACACACGCACACACATGCAGACAGACAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0071 a0001c0044t0001g0071	1	226	0.0044	346	c.238 others(365): Show c.238+26407_238+26408insGCAGACACACAGACACGCAGACACAG ATACACATACAGACATACACACAGGGACACACACAGAGACTCAGGGACAC ACACACACAGACACACAGACATAGACATATGCAGACACACACAGACACAC ACATGCAGACACAGACACACATGGACACACACATGCAGACACGCGGACAG ACACACAGACACAGAGACACACACGCAGACAGAGACACAGACATACACAG AGACCCAGGGACACACACACACATATGCAGACACACAGAAACACACAGAC ACACATAGACACATGCACACACACATGCAGACACACACAGACACACGCAC ACACATGCAGACAGACAGAC	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATTTATA others(339): Show CATTTATATATACATTTATATATACATATTTATATATATTTATATACATT TATAGATATATATTTATAGATATATATTTATATATATTTATTTATATTTA TATATATATTTATATATATTTATTTATATTTATATTTATATTTATATTTA TTTATATTTATATATATTTATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATTTATATATATTTATATATATATTTA TATATTTATATATATTTATATTTATATATTTATATATATTTATATTTCTA TTTATTTATATATATTTATATTTATTTATATTTATATATTAATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0054 a0001c0002t0007g0054	1	242	0.0041	346	c.174 others(365): Show c.1749-3776_1749-3775insTTATATATACATTTATATATACATAT TTATATATATTTATATACATTTATAGATATATATTTATAGATATATATTT ATATATATTTATTTATATTTATATATATATTTATATATATTTATTTATAT TTATATTTATATTTATATTTATTTATATTTATATATATTTATATATTTAT ATATATTTATATATATTTATATATATTTATATATATATTTATATATTTAT ATATATTTATATATATATTTATATATTTATATATATTTATATTTATATAT TTATATATATTTATATTTCTATTTATTTATATATATTTATATTTATTTAT ATTTATATATTAATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATTTATA others(339): Show CATTTATATATACATTTATATATACATATTTATATATATTTATATATATT TATAGATATATATTTATAGATATATATTTATATATATTTATTTATATTTA TATATATATTTATATATATTTATTTATATTTATATTTATATTTATATTTA TTTATATTTATATATTTATATATATTTATATATATTTATATATATTTATA TATATATTTATATATTTATATATATTTATATATATTTATATATATATTTA TATATTTATATATATTTATATTTATATATTTATATATATTTATATTTCTA TTTATTTATATATATTTATATTTATTTATATTTATATATTAATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0038 a0001c0002t0004g0038	1	242	0.0041	346	c.174 others(365): Show c.1749-3776_1749-3775insTTATATATACATTTATATATACATAT TTATATATATTTATATATATTTATAGATATATATTTATAGATATATATTT ATATATATTTATTTATATTTATATATATATTTATATATATTTATTTATAT TTATATTTATATTTATATTTATTTATATTTATATATTTATATATATTTAT ATATATTTATATATATTTATATATATATTTATATATTTATATATATTTAT ATATATTTATATATATATTTATATATTTATATATATTTATATTTATATAT TTATATATATTTATATTTCTATTTATTTATATATATTTATATTTATTTAT ATTTATATATTAATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHL18_chr3_47277944_47351816	47316707	G G	GTATGTGT others(339): Show GTATGTGTGTGTATATATACATATATACGTATATATGTATATGTGTGTAT ATATACATATATACGTATATATGTATATGTGTGTATATATACATATATAC GTATATATGTATATGTGTGTATATATACATATATACGTATATATGTATAT GTGTGTATATATACATATATACGTATATATGTATATGTGTGTATATATAC ATATATACGTATATATGTATATGTGTGTATATACACATATATACGTATAT ATGTATATGTGTGTATATACACATATATACGTATATATGTATATGTATAT ATGTGTATATATACACATATATACGTATATATGTGTATATATACACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	338	0.0030	346	c.130 others(363): Show c.130-2943_130-2942insGTGTGTGTATATATACATATATACGTAT ATATGTATATGTGTGTATATATACATATATACGTATATATGTATATGTGT GTATATATACATATATACGTATATATGTATATGTGTGTATATATACATAT ATACGTATATATGTATATGTGTGTATATATACATATATACGTATATATGT ATATGTGTGTATATATACATATATACGTATATATGTATATGTGTGTATAT ACACATATATACGTATATATGTATATGTGTGTATATACACATATATACGT ATATATGTATATGTATATATGTGTATATATACACATATATACGTATATAT GTGTATATATACACATAT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLRB1_chr12_9589551_9612916	9594008	A A	AAATACTT others(339): Show AAATACTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	436	0.0023	346	c.12 others(357): Show c.1265_*1266insGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCA TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AACAGAAGTATT	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding		542		chr12	TogoVar
LARS1_chr5_146108034_146187650	146174471	T T	TATATATC others(339): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATCCATATATATATATCCATATATATATCCATATATATATATCCATATA TATATCCATATATATATATCCATATATATATCCATATATATATATCCATA TATATGGATATATATATATCCATATATATCTATCCATATATATATCCATA TATATCTATCCATATATATATCCATATATCTATCCATATATATATCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	284	0.0035	346	c.126 others(363): Show c.126-1698_126-1697insGGATATATATATGGATAGATATATGGAT ATATATATGGATAGATATATATGGATATATATATGGATAGATATATATGG ATATATATATATCCATATATATGGATATATATATATGGATATATATATGG ATATATATATATGGATATATATATGGATATATATATATGGATATATATAT GGATATATATATATGGATATATATATGGATATATATATATGGATATATAT ATGGATATATATATATGGATATATATATGGATATATATATGGATATATAT ATATGGATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124507095	G G	GAGTATTT others(339): Show GAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGA GTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGT ATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	260	0.0077	346	c.624 others(363): Show c.624+8969_624+8970insTATTTCAGGTGGGGAGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTC AGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCA GGTGTGGGGGGTAGACAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	859505	G G	GAGTGGTG others(339): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAG TGATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC ACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGG GACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGG GGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTG CGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0074 a0001c0008t0001g0074	1	294	0.0034	346	c.153 others(365): Show c.1530-4800_1530-4799insGCACCCGTCCCGAGACACCACTCGCA CCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCG TCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGTCCC GTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGA CACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACT CACACCCGTCCCGAGACATCACTCACACCCGTCCCGTGACACCACTGCAC ACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953287	A A	ACACCCAC others(339): Show ACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGACCCCA AACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCT ACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTTCACAC AGACACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTC CAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTC CTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCAC ACAGACACGGACCCCAAACCAGCCTCCTGCACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0023 a0001c0008t0001g0023	1	294	0.0034	346	c.503 others(363): Show c.503+1069_503+1070insGGTGTCTGTGTGGACGTGCAGGAGGCTG GTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGG TGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTC CGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTG AACGTGTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAG GCTGGTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LNX1_chr4_53454301_53596486	53578919	T T	TAAAAAAT others(339): Show TAAAAAATATGATTAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGACCCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	356	0.0028	346	c.-86 others(363): Show c.-86-4832_-86-4831insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGGT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCATTAATCATATTTTTT	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	1/10			chr4	TogoVar
LOC128125818_chr4_6059977_6075162	6067677	G G	GGTTCACT others(339): Show GGTTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCT CCAGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCC AGGTTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGC TCCAGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTC CACGTTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCA CGTTCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCACG TTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0217 a0001c0001t0000g0217	1	462	0.0022	346	c.106 others(363): Show c.106+2379_106+2380insGTGGAGCTCAGGGGGGTGACCTGCGTGT GCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGC GGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGCGTGTGCAG AAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGAA GAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTGTGCA GAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGTGCAGA AGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTGTGTGC AGAAGAGCTTGAGTGAAC	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LRCH1_chr13_46548170_46749898	46557526	A A	AGTGAGAC others(339): Show AGTGAGACCCCATCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCGATTCTCCTGCCTCAGCCTCCAGGGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTCGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	274	0.0037	346	c.307 others(363): Show c.307+3839_307+3840insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCGATTCTCCTGCCTCAGCCTCCAGGGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTCGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCGTGAGACCCCATCTCT	LRCH1	ENSG00000136141.15	transcript	ENST00000389797.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
LRMDA_chr10_75426624_76565168	75672587	T T	TTCCCTTC others(339): Show TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTCCTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	46	0.0217	346	c.131 others(367): Show c.131+234093_131+234094insTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTTCCTG	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACGCTT others(339): Show CCACGCTTACATCTACCACACCCACACTTACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACCCTTACATCTACCTCCACACCCACAATTACACCCACGCTTACATC TACCTCCACACTCGCACTTACACCCACACTTACATCTACCTCCACACCCA CACTTACACCCACCCACACTTACACCCACGCTTACATCTACCACACCCAC ACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02647.hp1 HG01069.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0115 a0001c0001t0009g0203 a0001c0001t0009g0115 a0001c0001t0009g0203	2	290	0.0069	346	c.129 others(363): Show c.1290-944_1290-943insGCTTACATCTACCACACCCACACTTACA CCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCA CACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAAT TACACCCACGCTTACATCTACCTCCACACTCGCACTTACACCCACACTTA CATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACGCT TACATCTACCACACCCACACTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364730	A A	ACCCGCAC others(339): Show ACCCGCACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACAATTACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCGCACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCTACG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0011 a0002c0004t0010g0011	1	290	0.0035	346	c.129 others(363): Show c.1290-693_1290-692insCCGCACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCGCACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCTACGC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC36_chr16_67321815_67390204	67341006	T T	TACTATAG others(339): Show TACTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACATA TTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACATA TTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACATA TTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACATA TTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACATA TTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACATA TTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0020 a0003c0003t0001g0020	1	194	0.0052	346	c.71- others(359): Show c.71-951_71-950insACTATAGAATATGTACTCTACATATTCTATAG AATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAG AATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAG AATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAG AATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAG AATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAG AATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAG AATATGTACTCTAC	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13			chr16	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(339): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATAC ACAGATCTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0277 a0001c0008t0002g0277	1	382	0.0026	346	c.839 others(363): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATCTA TATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(339): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(4): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01934.hp1 HG03017.hp2 NA18950.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0016	a0001c0005 a0001c0042 a0003c0011 others(2): Show a0001c0005 a0001c0042 a0003c0011 a0007c0012 a0016c0026	a0001c0005t0005 a0001c0042t0021 a0003c0011t0004 others(2): Show a0001c0005t0005 a0001c0042t0021 a0003c0011t0004 a0007c0012t0002 a0016c0026t0005	a0001c0005t0005g0326 a0001c0005t0005g0327 a0001c0042t0021g0132 others(4): Show a0001c0005t0005g0326 a0001c0005t0005g0327 a0001c0042t0021g0132 a0003c0011t0004g0206 a0007c0012t0002g0096 a0016c0026t0005g0208 a0016c0026t0005g0211	7	382	0.0183	346	c.839 others(363): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LUC7L_chr16_183990_234449	186323	G G	GGAGGAAC others(339): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGG AACAGCGACACGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGA GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	350	0.0029	346	c.28 others(357): Show c.2874_*2875insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGC TGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCG TGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCC CCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2666		chr16	TogoVar

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