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
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(441): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	448	c.18 others(459): Show c.1842_*1843insATATATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTG GAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTC GCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGC CTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCA GGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTC AATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTA CCATGCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MSH4_chr1_75791882_75918242	75906505	A A	AATATATA others(441): Show AATATATATACATATTATATATATTATATATATACATATATATGTATATA TACATATATAATATGTATATATGTATATATATGTATAATATATATATTGT ATATATATATTATACATATGTATATATATATTATACATATATATATGTAT AATATATATAATGTATATATATACATATTATATATTATATATAATATATA CATATATATTATATATAATATATACATATTATATATTATATATATAATAT ATATACATATTATATTATATATAATATATATACATATTACATATATTATA TATAATATATATACATATATAATATATTATATATTATATATATTATATAT AATATATAATATATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATATATTATATATTATATATAATATATTATATATC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02559.hp2 others(6): Show HG00639.hp1 HG01884.hp2 HG02559.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 others(6): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0041	9	332	0.0271	448	c.262 others(467): Show c.2620-6191_2620-6190insATATATATACATATTATATATATTAT ATATATACATATATATGTATATATACATATATAATATGTATATATGTATA TATATGTATAATATATATATTGTATATATATATTATACATATGTATATAT ATATTATACATATATATATGTATAATATATATAATGTATATATATACATA TTATATATTATATATAATATATACATATATATTATATATAATATATACAT ATTATATATTATATATATAATATATATACATATTATATTATATATAATAT ATATACATATTACATATATTATATATAATATATATACATATATAATATAT TATATATTATATATATTATATATAATATATAATATATTATATATTATATA TAATATATAATATATTATATATTATATATAATATATAATATATTATATAT TATATATAATATATTATATATC	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(441): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAA AATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATA TAACGATAAAGCAGTCAATTCTTCAAGAACATATAACTACTGTAAATATA TATATTATATATATATAAAACCAAAACCAGAAGACCTAATTATATATATA TATTTAGGTCCTCTGGTTTTGGTTTTTTATATATATATATATATATTTAG GTCTTCTGGTTTTGGTTTTATATATATATTTATATAAATATAAATATATA AATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01070.hp2 others(24): Show HG00673.hp1 HG00733.hp1 HG01070.hp2 HG01106.hp2 HG01358.hp1 HG02027.hp2 HG02523.hp2 HG03710.hp1 HG06807.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp1 NA18959.hp2 NA18982.hp1 NA18995.hp2 NA19001.hp1 NA19004.hp1 NA19011.hp2 NA19055.hp1 NA19060.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016	a0001c0001t0002g0008 a0001c0001t0002g0071 a0001c0001t0002g0158 others(24): Show a0001c0001t0002g0008 a0001c0001t0002g0071 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0010g0184 a0001c0001t0010g0187 a0001c0001t0016g0192	27	312	0.0865	448	c.293 others(467): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAA AAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAA GCAGTCAATTCTTCAAGAACATATAACTACTGTAAATATATATATTATAT ATATATAAAACCAAAACCAGAAGACCTAATTATATATATATATTTAGGTC CTCTGGTTTTGGTTTTTTATATATATATATATATATTTAGGTCTTCTGGT TTTGGTTTTATATATATATTTATATAAATATAAATATATAAATATATATA ATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATATATATAT ATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MUC4_chr3_195741771_195816929	195771146	C C	CGGGTTGG others(441): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTG GTTGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCC TGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0187 a0187	a0187c0026 a0187c0026	a0187c0026t0001 a0187c0026t0001	a0187c0026t0001g0050 a0187c0026t0001g0050	1	249	0.0040	448	c.132 others(467): Show c.13242+505_13242+506insAACCACGAGACTGACCAGGAATACCC CAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACT GACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAAC CCGGCCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGG CCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGA CTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195771146	C C	CGGGTTGG others(441): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTG GTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGAGTATTCC TGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0145 a0145	a0145c0070 a0145c0070	a0145c0070t0001 a0145c0070t0001	a0145c0070t0001g0169 a0145c0070t0001g0169	1	249	0.0040	448	c.132 others(467): Show c.13242+505_13242+506insAACCACGAGACTGACCAGGAATACCC CAACCCGGCCGCGAGACTGACCAGGAATACTCCAACCCAACCACGAGACT GACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAAC CCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGG CCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGA CTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195771154	G G	GGTATTCC others(441): Show GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCG GCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCC TGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCG GGTTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTATTCCTGGT CAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTT GGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGT CTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18971.hp1 HG01070.hp1 NA18971.hp1	a0133 a0150 a0133 a0150	a0133c0088 a0150c0093 a0133c0088 a0150c0093	a0133c0088t0001 a0150c0093t0001 a0133c0088t0001 a0150c0093t0001	a0133c0088t0001g0135 a0150c0093t0001g0119 a0133c0088t0001g0135 a0150c0093t0001g0119	2	249	0.0080	448	c.132 others(467): Show c.13242+497_13242+498insTCCAACCCAACCACGAGACTGACCAG GAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCAACC ACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAAT ACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCACGA GACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCC CAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACT GACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAAC CCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGG CCGCGAGACTGACCAGGAATAC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(441): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATA AGTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAAT TATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTT ATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATA TAACTTATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTAT AAGTTATAATATATAACTTATAATTATAAGTTATAATATATAACTTATAA GTTATAATATATAACTTATAAGTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0018 a0018	a0018c0041 a0018c0041	a0018c0041t0001 a0018c0041t0001	a0018c0041t0001g0184 a0018c0041t0001g0184	1	284	0.0035	448	c.710 others(465): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTA TATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATATATTAT AACTTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATA AGTTATATATTATAACTTATAATTATAAATTATATATTATAACTTATAAT TAAAAATTATAATATATAACTTATAATTATAAATTATATATTATAAATTA TAATATATAAATTATATATATATATTATAAATTTATAATATATAAATTAT ATATTATAATTTATAATTTATAATTATAAATTATATATTATAAATTATAA TTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYO1B_chr2_191240404_191430386	191398221	T T	TGGGGCGG others(441): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCTGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01517.hp1 others(53): Show HG00642.hp2 HG01167.hp1 HG01517.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0001c0004 a0001c0005 others(5): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0002c0010 a0003c0015 a0005c0020	a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 others(12): Show a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0006 a0001c0005t0010 a0001c0006t0004 a0001c0006t0005 a0001c0012t0001 a0002c0010t0001 a0003c0015t0001 a0005c0020t0006	a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0009 others(53): Show a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0003t0001g0052 a0001c0003t0001g0080 a0001c0003t0005g0132 a0001c0003t0005g0133 a0001c0003t0005g0140 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0071 a0001c0004t0001g0079 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0148 a0001c0004t0001g0149 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0005g0102 a0001c0004t0005g0103 a0001c0004t0005g0104 a0001c0004t0005g0105 a0001c0005t0001g0051 a0001c0005t0001g0157 a0001c0005t0004g0088 a0001c0005t0005g0093 a0001c0005t0006g0143 a0001c0005t0006g0161 a0001c0005t0006g0162 a0001c0005t0006g0164 a0001c0005t0010g0012 a0001c0006t0004g0084 a0001c0006t0004g0085 a0001c0006t0004g0086 a0001c0006t0004g0087 a0001c0006t0004g0089 a0001c0006t0004g0090 a0001c0006t0004g0091 a0001c0006t0004g0099 a0001c0006t0005g0096 a0001c0012t0001g0170 a0002c0010t0001g0005 a0002c0010t0001g0007 a0003c0015t0001g0021 a0005c0020t0006g0156	56	170	0.3294	448	c.229 others(467): Show c.2295+1741_2295+1742insGGGGGGCTGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCTGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191398221	T T	TGGGGCGG others(441): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCTGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCCTGGAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0028 a0004c0016t0001g0028	1	170	0.0059	448	c.229 others(467): Show c.2295+1741_2295+1742insGGGGGGCTGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCTGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191398221	T T	TGGGGCGG others(441): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCTGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTCTGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCCTGGAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG03098.hp1 others(1): Show HG02486.hp1 HG02630.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0009 a0001c0014 a0001c0009 a0001c0014	a0001c0009t0001 a0001c0014t0001 a0001c0009t0001 a0001c0014t0001	a0001c0009t0001g0166 a0001c0009t0001g0167 a0001c0009t0001g0168 others(1): Show a0001c0009t0001g0166 a0001c0009t0001g0167 a0001c0009t0001g0168 a0001c0014t0001g0010	4	170	0.0235	448	c.229 others(467): Show c.2295+1741_2295+1742insGGGGGGCTGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCTGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTC TGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCC TGGACGGGGCGGCTGGCCGGGC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1B_chr2_191240404_191430386	191398221	T T	TGGGGCGG others(441): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCTACCTCCCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCTGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCCCGGAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0061 a0001c0018t0001g0061	1	170	0.0059	448	c.229 others(467): Show c.2295+1741_2295+1742insGGGGGGCTGATCCCCCTACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCTGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCCGATCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBDY_chrX_56724243_56824179	56725501	G G	GTAACAAT others(441): Show GTAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATAT TGTTATATATACATATAACAATATTGTTATATTGTTATATATACATATAA CAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTT ATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAAT ATTGTTATATTGTTATATATACATATAACAATATTGTTATATATACATAT AACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATAT ACATATAACAATATTGTTATATTGTTATATATACATATAACAATATTGTT ATATTGTTATATATACATATAACAATATTGTTATATATACATATAACAAT ATTGTTATATTGTTATATATACATATAACAATATTGTTATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	160	0.0063	448	c.-38 others(459): Show c.-3853_-3852insTAACAATATTGTTATATTGTTATATATACATATA ACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGT TATATATACATATAACAATATTGTTATATTGTTATATATACATATAACAA TATTGTTATATTGTTATATATACATATAACAATATTGTTATATTGTTATA TATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATT GTTATATATACATATAACAATATTGTTATATTGTTATATATACATATAAC AATATTGTTATATATACATATAACAATATTGTTATATTGTTATATATACA TATAACAATATTGTTATATTGTTATATATACATATAACAATATTGTTATA TATACATATAACAATATTGTTATATTGTTATATATACATATAACAATATT GTTATATATACATA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding		3741		chrX	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(441): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCT CCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTA GCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGG GGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAG CGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTG GCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	448	c.26 others(459): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGT GTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGT GTGTGTGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NINL_chr20_25447697_25590531	25562188	G G	GCCCGGCC others(441): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGTCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCATCCGGGAGGTGGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0069 a0002c0002t0005g0069	1	310	0.0032	448	c.-12 others(467): Show c.-12+23266_-12+23267insTGGGGGGCTGACCCCCCCCACCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCAGCCTCCTG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTGG ACGGGACGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGCAGGG GGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25562188	G G	GCCCGGCC others(441): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGTCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCATCCGGGAGGTGGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0070 a0002c0002t0005g0070	1	310	0.0032	448	c.-12 others(467): Show c.-12+23266_-12+23267insTGGGGGGCTGACCCCCCCCACCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCAGCCTCCTG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTGG ACGGGACGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGCAGG GGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25562188	G G	GCCCGGCC others(441): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCTGCCTGGCCAGCCACCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGTCCCGTCCAGGAGGGAGGTGGGGGAGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCAGGAGGCTGGTTGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCATCCGGGAGGTGGGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01175.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0078 a0002c0002t0005g0110 a0002c0002t0002g0078 a0002c0002t0005g0110	2	310	0.0065	448	c.-12 others(467): Show c.-12+23266_-12+23267insTGGGGGGCTGACCCCCCCCCACCTCC CGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCAGCCTCCT GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCTG GACGGGACGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCAGGCAGG GGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCGGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NRIP1_chr21_14956235_15070000	15030805	G G	GACATTCC others(441): Show GACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGATCAC TACCTTCCCCTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC TACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACTA CATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACGGAGGATCACCA CATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCACCA CATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTGGAGGTTCACC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0354 a0001c0002t0002g0354	1	398	0.0025	448	c.-45 others(469): Show c.-458+12689_-458+12690insGGTGAACCTCCAACCACCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAGGGGAAGGTAGTGATCCTCCAACCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(441): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTTGGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC TACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02683.hp2 HG06807.hp2 others(2): Show HG02559.hp1 HG02683.hp2 HG06807.hp2 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0024 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0024 a0001c0001t0025 a0001c0002t0009	a0001c0001t0001g0180 a0001c0001t0001g0226 a0001c0001t0024g0225 others(2): Show a0001c0001t0001g0180 a0001c0001t0001g0226 a0001c0001t0024g0225 a0001c0001t0025g0385 a0001c0002t0009g0173	5	398	0.0126	448	c.-45 others(469): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAG TGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(441): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAG GGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGA TGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGG AGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGG AGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	386	0.0026	448	c.92 others(459): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCCTCTCCCTCCCTCTCCC TGTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACC CCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCC CTCCCTCTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCC CCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCT CCCTCCCCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NUP93_chr16_56725129_56855286	56808223	A A	ATATAAAA others(441): Show ATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACT ATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACT ATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACT ATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACT ATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACT ATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACT ATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACT ATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAACT ATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGTAAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0259 a0001c0003t0002g0259	1	378	0.0027	448	c.489 others(465): Show c.489+2608_489+2609insCGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATATAAAATATATAGTTACGTAACTATATAAAATATATAGTTACGT AACTATAAAATATATAGTTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	949109	G G	GCCTCCTC others(441): Show GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTG CCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTC CCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTG CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCGCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	242	0.0041	448	c.360 others(467): Show c.360+30209_360+30210insAGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCACGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OLFML1_chr11_7480506_7516377	7491543	T T	TTCTCTAT others(441): Show TTCTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGTTAGGCA CTGTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTCT GTTAGTAACTATGCCTATATCGGTTCTCATGCTATACAACAAATTACCAT AGATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGTG GGTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTTGGA ATGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTATGCA CACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATCAGTTC TCATGCTATACAACAAATTACCATAGATTTAGCATCTTAAAACAATACAC ATTTACTACCTCAGAGTTTCTGTGGGTCAGGAGTCCATGCATGGCTTAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0228 a0001c0001t0005g0228	1	388	0.0026	448	c.418 others(465): Show c.418+3248_418+3249insGGTTCTCATGCTATACAACAAATTACCA TAGATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGT GGGTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTTGG AATGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTATGC ACACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATCAGTT CTCATGCTATACAACAAATTACCATAGATTTAGCATCTTAAAACAATACA CATTTACTACCTCAGAGTTTCTGTGGGTCAGGAGTCCATGCATGGCTTAG TCTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGTTAGGCAC TGTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTCTG TTAGTAACTATGCCTATATC	OLFML1	ENSG00000183801.8	transcript	ENST00000329293.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
OLFML1_chr11_7480506_7516377	7491543	T T	TTCTCTAT others(441): Show TTCTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGTTAGGCA CTGTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTCT GTTAGTAACTATGCCTATATCGGTTCTCATGCTATACAACAAATTACCAT AGATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGTG GGTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTTGGA ATGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTATGCA CACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATCGGTTC TCATGCTATACAACAAATTACCATAGATTTAGCATCTTAAAACAATACAC ATTTACTACCTCAGAGTTTCTGTGGGTCAGGAGTCCATGCATGGCTTAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG03453.hp2 others(2): Show HG02615.hp2 HG02723.hp1 HG03453.hp2 HG03579.hp2 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0009c0013t0002	a0001c0001t0001g0151 a0001c0001t0002g0054 a0001c0001t0002g0144 others(2): Show a0001c0001t0001g0151 a0001c0001t0002g0054 a0001c0001t0002g0144 a0001c0001t0005g0048 a0009c0013t0002g0092	5	388	0.0129	448	c.418 others(465): Show c.418+3248_418+3249insGGTTCTCATGCTATACAACAAATTACCA TAGATTTAGCATCTTAAAACAATACACATTTACTACCTCAGAGTTTCTGT GGGTCAGGAGTCCATGCATGGCTTAGTCTCTATCTAGGAGTAGACTTTGG AATGTCAATTTATTCCCGTTAGGCACTGTTTTGTATTGTATATATTATGC ACACTCCTGCTTTTTTGCCATTTCTGTTAGTAACTATGCCTATATCGGTT CTCATGCTATACAACAAATTACCATAGATTTAGCATCTTAAAACAATACA CATTTACTACCTCAGAGTTTCTGTGGGTCAGGAGTCCATGCATGGCTTAG TCTCTATCTAGGAGTAGACTTTGGAATGTCAATTTATTCCCGTTAGGCAC TGTTTTGTATTGTATATATTATGCACACTCCTGCTTTTTTGCCATTTCTG TTAGTAACTATGCCTATATC	OLFML1	ENSG00000183801.8	transcript	ENST00000329293.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
PALLD_chr4_168492052_168933441	168738666	G G	GGTGATCC others(441): Show GGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGTGTGAG CCACCGTGCCCAACCAGTGTTCTCTCTACTTTTCTTTTCTTACTGCTACC ACCCTGTTGTAGGCCTGGACATCTCACTTCTAAGTGCTCCACAACATCTA AACTGATCTTTCTCCCTTCAGTGTCTCCCCATGTTAATCCTTCTTAAACT CTTTTTTTTTTTTTTTTTTTTGTTTTTTTTGAGACGGAGTCTCGCTCTGT CACCCAGGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGCAAGCTCCGC CTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAG AGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0054 a0001c0022t0003g0054	1	156	0.0064	448	c.196 others(469): Show c.1964+26750_1964+26751insACCCACCTCGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCAACCAGTGTTCTCTCTACTTT TCTTTTCTTACTGCTACCACCCTGTTGTAGGCCTGGACATCTCACTTCTA AGTGCTCCACAACATCTAAACTGATCTTTCTCCCTTCAGTGTCTCCCCAT GTTAATCCTTCTTAAACTCTTTTTTTTTTTTTTTTTTTTGTTTTTTTTGA GACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCC GCTCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGC CTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168738666	G G	GGTGATCC others(441): Show GGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGTGTGAG CCACCGTGCCCAACCAGTGTTCTCTCTACTTTTCTTTTCTTACTGCTACC ACCCTGTTGTAGGCCTGGACATCTCACTTCTAAGTGCTCCACAACATCTA AACTGATCTTTCTCCCTTCAGTGTCTCCCCATGTTAATCCTTCTTAAACT CTTTTTTTTTTTTTTTTTTTTGTTTTTTTTGAGACGGAGTCTCGCTCTGT CACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGTCTAATTTTTTTTGTATTTTTAGTAG AGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00735.hp2 others(29): Show HG00280.hp2 HG00639.hp2 HG00735.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01261.hp2 HG01346.hp2 HG01952.hp1 HG02004.hp1 HG02004.hp2 HG02148.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG03942.hp1 NA18966.hp2 NA18969.hp2 NA19001.hp1 NA19074.hp1 NA19077.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0002c0007 a0002c0012 a0004c0011 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0002c0003t0001 a0002c0003t0003 a0002c0006t0007 a0002c0007t0001 a0002c0012t0001 a0004c0011t0001 a0004c0014t0001	a0001c0001t0001g0013 a0001c0001t0001g0059 a0001c0001t0001g0072 others(29): Show a0001c0001t0001g0013 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0145 a0001c0001t0003g0067 a0001c0001t0005g0134 a0001c0001t0005g0140 a0001c0001t0005g0154 a0001c0001t0008g0006 a0001c0001t0008g0008 a0001c0001t0008g0069 a0001c0001t0009g0105 a0001c0001t0009g0127 a0001c0001t0021g0149 a0001c0002t0003g0066 a0001c0002t0006g0115 a0001c0002t0007g0071 a0001c0002t0009g0137 a0001c0002t0010g0107 a0002c0003t0001g0049 a0002c0003t0003g0033 a0002c0006t0007g0032 a0002c0006t0007g0046 a0002c0007t0001g0025 a0002c0012t0001g0085 a0004c0011t0001g0083 a0004c0014t0001g0029 a0004c0014t0001g0031	32	156	0.2051	448	c.196 others(469): Show c.1964+26750_1964+26751insACCCACCTCGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCAACCAGTGTTCTCTCTACTTT TCTTTTCTTACTGCTACCACCCTGTTGTAGGCCTGGACATCTCACTTCTA AGTGCTCCACAACATCTAAACTGATCTTTCTCCCTTCAGTGTCTCCCCAT GTTAATCCTTCTTAAACTCTTTTTTTTTTTTTTTTTTTTGTTTTTTTTGA GACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGC CTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGTCTAATTT TTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168738666	G G	GGTGATCC others(441): Show GGTGATCCACCCACCTCGGCCTCCCCAAATGCTGGGATTACAGGTGTGAG CCACCGTGCCCAACCAGTGTTCTCTCTACTTTTCTTTTCTTACTGCTACC ACCCTGTTGTAGGCCTGGACATCTCACTTCTAAGTGCTCCACAACATCTA AACTGATCTTTCTCCCTTCAGTGTCTCCCCATGTTAATCCTTCTTAAACT CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGTCTAATTTTTTTTGTATTTTTAGTAG AGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp1 HG02897.hp1 others(4): Show HG00639.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03486.hp1 HG03540.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0006 others(2): Show a0001c0001 a0001c0002 a0002c0006 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0002t0007 a0002c0006t0007 others(3): Show a0001c0001t0001 a0001c0002t0007 a0002c0006t0007 a0003c0008t0004 a0003c0008t0006 a0004c0009t0004	a0001c0001t0001g0051 a0001c0002t0007g0050 a0002c0006t0007g0042 others(4): Show a0001c0001t0001g0051 a0001c0002t0007g0050 a0002c0006t0007g0042 a0003c0008t0004g0052 a0003c0008t0006g0152 a0004c0009t0004g0038 a0004c0009t0004g0039	7	156	0.0449	448	c.196 others(469): Show c.1964+26750_1964+26751insACCCACCTCGGCCTCCCCAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCAACCAGTGTTCTCTCTACTTT TCTTTTCTTACTGCTACCACCCTGTTGTAGGCCTGGACATCTCACTTCTA AGTGCTCCACAACATCTAAACTGATCTTTCTCCCTTCAGTGTCTCCCCAT GTTAATCCTTCTTAAACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGC CTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGTCTAATTT TTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(441): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGC ATATATATACATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATGTGTGCATATATATACATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0003 a0002c0017t0003	a0002c0017t0003g0084 a0002c0017t0003g0084	1	156	0.0064	448	c.196 others(469): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GCATATATATACATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATGTGTGCATATATATACATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(441): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGT GCATATATATACATATATATGTGTGCATATATATACATATATGTGTGCAT ATATATACATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0131 a0001c0004t0002g0131	1	156	0.0064	448	c.196 others(469): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATATGTGTGCATATATATACATATATGTGTGC ATATATATACATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATGTGTGCATATATATACATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCBP3_chr21_45638725_45947450	45815097	G G	GTGAGTGG others(441): Show GTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTG AGTGGTGAGTGATGAGTGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTG GTGAGTGAGTGGTGAGTGGTGAGTGGTGAGTGGTGAGTGATGAGTGAGTG GTGAGTGAGTGGTGAGTGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTG GTGAGTGAGTGGTGAGTGGTGAGTGAGTGATGAGTGAGTGGTGAGTGATG AGTGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGGTG AGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGGTGAGTCAGTGGTGAGT GGTGAGTGGTGAGTGAGTGATGAGTGATGGGTGAGTGGTGAGTGATGAGT GAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	292	0.0034	448	c.-12 others(469): Show c.-125-34851_-125-34850insAGTGGTGAGTGGTGAGTGAGTGGT GAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGTGAGTGAT GAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGGTGAGTGGTGAGT GATGAGTGAGTGGTGAGTGAGTGGTGAGTGAGTGGTGAGTAGTGAGTGAT GAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGATGAGTGAG TGGTGAGTGATGAGTGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAG TGGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGGTGAG TCAGTGGTGAGTGGTGAGTGGTGAGTGAGTGATGAGTGATGGGTGAGTGG TGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGA GTAGTGAGTGATGAGTGGTGAGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(441): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	436	0.0023	448	c.-26 others(459): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDCD6_chr5_266646_319974	309607	C C	CCCAGTGA others(441): Show CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCAACCCA GTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGC ACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCC CCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCG CCGTGCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGA TGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	360	0.0028	448	c.368 others(465): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCAACCCAGTGATG GCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCA GTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGC ACACCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTGC CCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCG CCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGA TGGCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE4D_chr5_58964038_59898726	59434007	T T	TTCTTTAG others(441): Show TTCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGA AGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCC TAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGA TGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCT TTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTC TCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAA GAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTT CCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAG GATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	74	0.0135	448	c.456 others(469): Show c.456-218040_456-218039insTGAGACTTCTTTAGGAACATCCTA AAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGAAC ATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTT AGGAACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGAC TTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGA TGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGAACATCC TAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGA ACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCT TTAGGAACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAG ACTTCTTTAGGAACATCCTAAAGA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAGAAAA others(441): Show CAAGAAAAGAAAGAAAGAAAGAAAGGAGAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAGAAAGAAAGAAAGAAGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAAGAAGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	342	0.0029	448	c.20- others(463): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTCCTTCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTCTTTCTT TCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTT TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCCTTTCT TTCTTTCTTTCTTTTCTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGCT others(441): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCAGGGGGG CTCGCAGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTC GCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0316 a0001c0001t0029g0316	1	358	0.0028	448	c.143 others(463): Show c.143-474_143-473insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCA GGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGG GGCTCGCAGGGGGGCTCGCAGGGGGGCTCGCAGGGGGGCTCGCGGGGGGC TCGCAGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(441): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCT CCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTA GCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGG GGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAG CGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTG GCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp2 HG02965.hp2 HG03516.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0095 a0002c0001t0001g0109 a0002c0001t0001g0095 a0002c0001t0001g0109	2	408	0.0049	448	c.-10 others(465): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCT GGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATG TGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TGGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT GGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGCACCCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(441): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAGGGGAGAGGAGGGAAGA GGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	312	0.0032	448	c.53 others(459): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAGG GGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGG GAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGG GGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PTTG1IP_chr21_44844598_44878690	44863291	G G	GCCACGGC others(441): Show GCCACGGCCTCAGCAGCAGACACACAGCCCACCACGGCCTCAGGAGCAGA GACACAGCCCACCACGGCCTCAGCAGCACAGAGACACACAGCCCACCACG GCCTCAGCAGCACAGAGACACACAGCCCACCACGGCCTCAGCAGCACAGA GACACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGC CTCAGCAGCACAGAGACACACAGCCCACCACGGCCTCAGCAGCACAGAGA CACACAGCCCACCACGGCCTCAGCAGCACAGAGACACACAGCCCACCACG GCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCACAGAGACA CACAGCCCGCCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCA GCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0128 a0001c0001t0008g0128	1	444	0.0023	448	c.169 others(465): Show c.169-2021_169-2020insTGGGCTGTGTCTCTGCTGCTGAGGCCGT GGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTG CTGAGGCCGTGGCGGGCTGTGTGTCTCTGTGCTGCTGAGGCCGTGGTGGG CTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTGTCTCTGTGCTGCT GAGGCCGTGGTGGGCTGTGTGTCTCTGTGCTGCTGAGGCCGTGGTGGGCT GTGTGTCTCTGTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGA GGCCGTGGTGGGCTGTGTGTCTCTGTGCTGCTGAGGCCGTGGTGGGCTGT GTGTCTCTGTGCTGCTGAGGCCGTGGTGGGCTGTGTGTCTCTGTGCTGCT GAGGCCGTGGTGGGCTGTGTCTCTGCTCCTGAGGCCGTGGTGGGCTGTGT GTCTGCTGCTGAGGCCGTGG	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5			chr21	TogoVar
PWWP2B_chr10_132392200_132422859	132392570	A A	ATGGTGAT others(441): Show ATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGT GGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGAT GGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGG TGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATG GTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGATAATGGTGATGGT GATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGT GGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAA TGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0172 a0001c0007t0001g0172	1	374	0.0027	448	c.-46 others(459): Show c.-4657_-4656insTGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGAT AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGG TGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTG GTAATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGT GATAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGG TGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTG ATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGT GGTGGTAATGATGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4629		chr10	TogoVar
RNF17_chr13_24759169_24884921	24881903	G G	GATATATA others(441): Show GATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATA TAGATGCATCTATATAGATATATAATCTATATAGATGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02922.hp1 HG02647.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0009 a0001c0001t0001g0024	2	426	0.0047	448	c.21 others(459): Show c.2177_*2178insATATATAGATGCATCTATATAGATATATAGATGC ATCTATATAGATATATAGATGCATCTATATAGATATATAATCTATATAGA TGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1983		chr13	TogoVar
RPH3AL_chr17_207389_357807	273051	A A	AGAGACCC others(441): Show AGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACT TCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGG GTGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAG GGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGA CTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGA GGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCC CAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACGTCAGGGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0048 a0001c0004t0001g0048	1	133	0.0075	448	c.438 others(465): Show c.438+8716_438+8717insACCCTGACGTCACCCGCGCTGGGGTCTC TCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGG GGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGT CACCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCC TGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTC TCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCT GGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACC CTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGAC GTCACCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273127	C C	CGTCAGGG others(441): Show CGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGA GGGTGACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCC CAGCGAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAG AGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACATC AGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGT GACGTCAGGGAGAGACCCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGC GAGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACGTCAGGGAGAGAC CCCAGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGG TGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGGGTGAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	133	0.0075	448	c.438 others(465): Show c.438+8640_438+8641insATCACCCTTGCTGGGGTCTCTCCCTGAC GTCGCCCTCGCTGGGGTCTCACCCTGAAGTCACCCTCGCTGGGGTCTCAC CCTGAAGTCACCCGCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGG TCTCACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCG CTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCG CCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGGGTCTCTCCCTG ACGTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTC ACCCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGG GGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCG CGCTGGGGTCTCTCCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273567	G G	GAGGGCGA others(441): Show GAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGAC CCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGG AGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCGGCGAGG GTGACGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAG ACCCCAGCAAGGGTGATGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAG GGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCAAGGGTGA TGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0090 a0001c0002t0003g0090	1	133	0.0075	448	c.438 others(465): Show c.438+8200_438+8201insTGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGACGT CACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCACCC TGACATCACCCTTGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTC TCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCT GGGGTCTCACCCTGACGTCACCCTCGCCGGGGTCTCACCCTGACGTCACC CTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGAC GTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTC CCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGG TCTCTCCCTGACGTCGCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(441): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG01109.hp2 others(2): Show HG00597.hp1 HG00609.hp1 HG01109.hp2 HG03831.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0051 a0001c0001t0001g0088 a0001c0001t0001g0177 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0088 a0001c0001t0001g0177 a0001c0001t0003g0086 a0001c0001t0008g0066	5	276	0.0181	448	c.494 others(467): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTG TATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(441): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGG AGGAGGAGGGAGGGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAG GGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAG AAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGA GAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGG AGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	396	0.0025	448	c.807 others(465): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTT CCTCTTCTTCCTCTTCCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCT CCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTC CTCCTCCCCCTCCCTCCTCCTCCCTCCCTCCCCCTCCCTCCCTCCTCCCC CTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCC CTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCC CTCCCTCCTCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCCC CTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SAMD11_chr1_918923_949574	934833	C C	CCGTTACA others(441): Show CCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCTGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGG TGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGG GGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	434	0.0023	448	c.843 others(463): Show c.843-920_843-919insGGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCTGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGG TGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGG GGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCAMP1_chr5_78355617_78485739	78430084	A A	AGTATTTG others(441): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACTGTATTTGTTTA TAAATACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0180 a0001c0001t0008g0180	1	332	0.0030	448	c.632 others(465): Show c.632+8130_632+8131insGTTTATAAATACAGTATTTGTTTATAAA TACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(441): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18968.hp2 NA18977.hp2 others(2): Show NA18941.hp1 NA18968.hp2 NA18977.hp2 NA18990.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0235 others(2): Show a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0019g0210	5	332	0.0151	448	c.632 others(465): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATAAAT others(441): Show TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	332	0.0030	448	c.632 others(465): Show c.632+8265_632+8266insAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1288607	C C	CCGTGTCT others(441): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC CCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	290	0.0035	448	c.166 others(465): Show c.1662+571_1662+572insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(441): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAG GAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGG TGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0004 a0004c0004t0003g0004	1	445	0.0023	448	c.-37 others(459): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar

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