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
FUT8_chr14_65407730_65749121	65456583	T T	TAAAAAAT others(310): Show TAAAAAATTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	374	0.0027	317	c.-22 others(334): Show c.-228+876_-228+877insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
G3BP1_chr5_151766954_151817785	151777918	T T	TTATGTTC others(310): Show TTATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 NA19043.hp2 HG01884.hp1 HG02818.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0019 a0001c0001t0019g0056 a0001c0001t0019g0019 a0001c0001t0019g0056	3	342	0.0088	317	c.-50 others(334): Show c.-50+5896_-50+5897insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTATGTTCTTTTTTT	G3BP1	ENSG00000145907.16	transcript	ENST00000356245.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GABBR2_chr9_98283109_98713935	98393045	T T	TCCACCCA others(310): Show TCCACCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACACACCCACTCATCCACCCAACCATCCATCCATCCACTCATCCACTCA TCCACCCAACCATCCATCCATCCACTCATCCACCAACCCATCGATCCATC CATCCATCCATCTATCCATCCACTTGATCAATTCATCTATCCATCTACCC AGCCATCCATCTGTCCACCCATCTACCTGTCCATCTATCCACTCACCCAC CCACCCACATACCTATCCATCTATCCATCCATCCGCCCATTCACACACCC ATCCAGGCATCCACCCAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02622.hp2 HG02922.hp1 others(2): Show HG01952.hp1 HG02622.hp2 HG02922.hp1 HG03139.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0002c0026 a0001c0001 a0002c0012 a0002c0026	a0001c0001t0010 a0001c0001t0015 a0001c0001t0045 others(2): Show a0001c0001t0010 a0001c0001t0015 a0001c0001t0045 a0002c0012t0006 a0002c0026t0002	a0001c0001t0010g0044 a0001c0001t0015g0020 a0001c0001t0045g0091 others(2): Show a0001c0001t0010g0044 a0001c0001t0015g0020 a0001c0001t0045g0091 a0002c0012t0006g0079 a0002c0026t0002g0013	5	164	0.0305	317	c.137 others(336): Show c.1378+1129_1378+1130insTTGGGTGGATGCCTGGATGGGTGTGT GAATGGGCGGATGGATGGATAGATGGATAGGTATGTGGGTGGGTGGGTGA GTGGATAGATGGACAGGTAGATGGGTGGACAGATGGATGGCTGGGTAGAT GGATAGATGAATTGATCAAGTGGATGGATAGATGGATGGATGGATGGATC GATGGGTTGGTGGATGAGTGGATGGATGGATGGTTGGGTGGATGAGTGGA TGAGTGGATGGATGGATGGTTGGGTGGATGAGTGGGTGTGTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGTTGGGTGG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241805556	A A	ACCTTCCC others(310): Show ACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCT CCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCTCAACCCAGGG ACCTCTGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	314	0.0032	317	c.13 others(328): Show c.1390_*1391insCCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCTCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCTCTCAACCCAGGGACCTCTGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1270		chr2	TogoVar
GALC_chr14_87928014_87998182	87949141	C C	CAAAAGAT others(310): Show CAAAAGATGACAAAGCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATAATCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGGAGGG GGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAGAA AGGAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0290 a0002c0004t0002g0290	1	370	0.0027	317	c.133 others(334): Show c.1338+703_1338+704insTTTTTTTTTTTTTTTCCTTTCTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGCTTTGTCATCTTTT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	12/16			chr14	TogoVar
GALNT7_chr4_173163811_173328967	173228289	T T	TCTTCTAG others(310): Show TCTTCTAGTCATTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00642.hp1 others(44): Show HG00140.hp2 HG00323.hp2 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG03017.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG04204.hp2 HG06807.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18963.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA19002.hp2 NA19005.hp2 NA19055.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0009 a0001c0001 a0001c0008 a0005c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0008t0002 a0005c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(44): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0004g0112 a0001c0001t0004g0115 a0001c0001t0004g0122 a0001c0001t0010g0129 a0001c0001t0015g0157 a0001c0008t0002g0147 a0005c0009t0001g0139	47	266	0.1767	317	c.127 others(336): Show c.127-19676_127-19675insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCTTCTAGTCATTTCT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(310): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18963.hp1 NA18964.hp2 others(2): Show NA18944.hp1 NA18963.hp1 NA18964.hp2 NA19010.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	5	424	0.0118	317	c.-32 others(328): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GET4_chr7_871554_901436	890019	G G	GGGGTCTG others(310): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACG GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGAGAGCGGGTGTCAGGACGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0291 a0001c0005t0011g0291	1	384	0.0026	317	c.467 others(332): Show c.467-836_467-835insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGG AGGGAGCGAGAGCGGGTGTCAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTCAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAG GACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(310): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATAC AAATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGCGGGGAAGGGATTGTGAT GCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	412	0.0024	317	c.-35 others(332): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGCGGGGAAGGGATTGTGATGC GCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GHITM_chr10_84134509_84158568	84157913	T T	TCAAGGAT others(310): Show TCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01361.hp1 HG01433.hp1 others(20): Show HG01109.hp1 HG01361.hp1 HG01433.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02622.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA18951.hp2 NA18955.hp2 NA18998.hp1 NA19062.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0001t0002g0043	23	450	0.0511	317	c.55 others(328): Show c.5565_*5566insCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	GHITM	ENSG00000165678.22	transcript	ENST00000372134.6	protein_coding		4346		chr10	TogoVar
GIPR_chr19_45663221_45688722	45672002	A A	AGACACTA others(310): Show AGACACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAC CTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTTA GTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACTGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA19083.hp1 NA18965.hp2 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0018 a0002c0002t0004 a0002c0002t0018	a0002c0002t0004g0070 a0002c0002t0018g0108 a0002c0002t0004g0070 a0002c0002t0018g0108	2	416	0.0048	317	c.280 others(332): Show c.280+616_280+617insATTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTC TGCTCACTGCAACCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAATT TTTTGTATTTTTAGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACTGCGCCCGGCCTGACACT	GIPR	ENSG00000010310.9	transcript	ENST00000590918.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GLRB_chr4_157071150_157177090	157146656	C C	CAAAAATG others(310): Show CAAAAATGCAAAAAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02630.hp1 others(1): Show HG01884.hp1 HG02280.hp2 HG02630.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0003 a0001c0001t0003g0021 a0001c0001t0003g0022	4	306	0.0131	317	c.904 others(334): Show c.904+2713_904+2714insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCGGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAATGCAAAAAATT	GLRB	ENSG00000109738.11	transcript	ENST00000264428.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GP6_chr19_55008705_55043264	55032884	A A	ACGGTGGG others(310): Show ACGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGC GGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGG TGGACTCGTTCGTGTTGTGTTAGACACGGTGGACTCGTTCGTGTTAGACG CGGTGGACTCGTTCGTGTTAGACGTGGAGGGCTCGTTCGTGTTAGACGCG GCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGC GGGTTCGTTCGTGTTAGACACGGTGGACTCGTTCGTGTTAGACACGGTGG GCTCGTTCGTGTTAGACG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	441	0.0023	317	c.35- others(330): Show c.35-347_35-346insCGTCTAACACGAACGAGCCCACCGTGTCTAAC ACGAACGAGTCCACCGTGTCTAACACGAACGAACCCGCCGCGTCTAACAC GAACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGA ACGAGCCCTCCACGTCTAACACGAACGAGTCCACCGCGTCTAACACGAAC GAGTCCACCGTGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACG AACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAA CGAGCCCACCGCGTCTAACACGAACGAGCCCACCG	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GPC6_chr13_93221807_94413020	93332032	T T	TGAGTTCA others(310): Show TGAGTTCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCAAGCAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0051 a0001c0001t0010g0051	1	76	0.0132	317	c.160 others(338): Show c.160+104432_160+104433insTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCT CCCAAGCAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGAGTTCATTCTTTTTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR107_chr9_130048906_130145164	130067672	T T	TAATATTA others(310): Show TAATATTAAACTTCTTTTTTTTTTTTTTGAGAGGAGTCTCGCTCTGTTGC CCAGGCCGGACTGCGGACTGCAGTAGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT AATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02040.hp1 HG02735.hp2 others(12): Show HG00140.hp2 HG02040.hp1 HG02735.hp2 NA18939.hp1 NA18942.hp2 NA18971.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp1 NA18990.hp1 NA19010.hp2 NA19058.hp1 NA19060.hp1 NA19068.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0011 a0001c0001t0003g0009 a0001c0001t0005g0008 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022	15	306	0.0490	317	c.142 others(334): Show c.142-7949_142-7948insTTTTTTTTTTTTGAGAGGAGTCTCGCTC TGTTGCCCAGGCCGGACTGCGGACTGCAGTAGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTAATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCCCAATATTAAACTTCTT	GPR107	ENSG00000148358.21	transcript	ENST00000347136.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
GPR160_chr3_170032995_170090392	170081258	T T	TAAGACCA others(310): Show TAAGACCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	356	0.0028	317	c.-69 others(334): Show c.-69+1372_-69+1373insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACCAATGG	GPR160	ENSG00000173890.17	transcript	ENST00000355897.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRIK2_chr6_101388708_102075083	101972577	T T	TAATTTGG others(310): Show TAATTTGGTCCTACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01496.hp1 HG02132.hp2 others(4): Show HG00621.hp2 HG01496.hp1 HG02132.hp2 HG03453.hp1 HG03834.hp2 HG04204.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003	a0001c0001t0002g0001 a0001c0002t0001g0002 a0001c0002t0001g0034 others(4): Show a0001c0001t0002g0001 a0001c0002t0001g0002 a0001c0002t0001g0034 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0081 a0001c0002t0003g0068	7	116	0.0603	317	c.208 others(338): Show c.2085+43962_2085+43963insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAATTTGGTCCTACTTTT	GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRM5_chr11_88499642_89070982	88506963	T T	TAAGGCTG others(310): Show TAAGGCTGGGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02647.hp1 HG02055.hp1 HG02257.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0007 a0001c0001t0007 a0001c0002t0007	a0001c0001t0007g0014 a0001c0001t0007g0104 a0001c0002t0007g0019 a0001c0001t0007g0014 a0001c0001t0007g0104 a0001c0002t0007g0019	3	184	0.0163	317	c.16 others(328): Show c.1628_*1629insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGACCCAGCCTT	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	10/10	1628		chr11	TogoVar
GRM7_chr3_6856115_7746533	7088683	T T	TCACTGAT others(310): Show TCACTGATTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AACTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTGCAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG01258.hp2 others(11): Show HG01069.hp2 HG01106.hp2 HG01258.hp2 HG01884.hp1 HG02258.hp2 HG02559.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp1 HG03471.hp1 HG03831.hp1 NA18522.hp2 NA18974.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0015 a0001c0017 a0002c0016	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 others(9): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0008t0002 a0001c0015t0009 a0001c0017t0001 a0002c0016t0001	a0001c0001t0003g0006 a0001c0002t0001g0080 a0001c0002t0004g0046 others(11): Show a0001c0001t0003g0006 a0001c0002t0001g0080 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0003t0001g0037 a0001c0003t0002g0019 a0001c0003t0002g0044 a0001c0004t0001g0076 a0001c0004t0003g0054 a0001c0005t0001g0034 a0001c0008t0002g0020 a0001c0015t0009g0045 a0001c0017t0001g0041 a0002c0016t0001g0067	14	80	0.1750	317	c.520 others(336): Show c.520-57757_520-57756insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAACTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCACTGATTTCTT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7572895	C C	CGGGCGTG others(310): Show CGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC AGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAG CCTGGGCAAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0057 a0001c0002t0007g0057	1	80	0.0125	317	c.151 others(336): Show c.1516-5527_1516-5526insGGGCGTGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCA GAGATCGCGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	7/9			chr3	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(310): Show TCCTCCTCCCCCCTCCCACTCCTCCCCACTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0005 a0003c0009t0005	a0003c0009t0005g0244 a0003c0009t0005g0244	1	290	0.0035	317	c.427 others(334): Show c.427-1062_427-1061insTCCTCCCCCCTCCCACTCCTCCCCACTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(310): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0092 a0001c0002t0006g0092	1	290	0.0035	317	c.427 others(334): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSN_chr9_121263162_121337842	121277653	T T	TAAAATAC others(310): Show TAAAATACTTTGCTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0076 a0002c0002t0007g0076	1	322	0.0031	317	c.-10 others(336): Show c.-102-3801_-102-3800insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAATACTTTGCTGCT	GSN	ENSG00000148180.22	transcript	ENST00000432226.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(310): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGG CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01169.hp2 others(11): Show HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01517.hp2 HG02080.hp2 HG02165.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG03654.hp2 NA18612.hp1 NA18953.hp1 NA18968.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0191 a0001c0001t0001g0351 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0191 a0001c0001t0001g0351 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0002g0363	14	410	0.0342	317	c.-43 others(328): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCGCTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(310): Show TGGATCATAATCTTCGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	428	0.0023	317	c.187 others(334): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAACGAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(310): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03927.hp2 NA18947.hp1 others(1): Show HG02135.hp2 HG03927.hp2 NA18947.hp1 NA18948.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0004c0011t0001 a0001c0001t0001 a0004c0011t0001	a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0004c0011t0001g0136	4	428	0.0094	317	c.187 others(334): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HCAR2_chr12_122696293_122708357	122707046	A A	AGACAAAC others(310): Show AGACAAACAGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCTCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	428	0.0023	317	c.-37 others(328): Show c.-3764_-3763insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGAGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAATCTGTTTGTC	HCAR2	ENSG00000182782.8	transcript	ENST00000328880.6	protein_coding		3690		chr12	TogoVar
HECW1_chr7_43107647_43571001	43139725	T T	TTAATTTA others(310): Show TTAATTTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0125 a0001c0006t0001g0125	1	182	0.0055	317	c.-32 others(336): Show c.-32+25348_-32+25349insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTAATTTACTTTCTT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(310): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	348	0.0029	317	c.53 others(328): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(310): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG03831.hp1 NA18967.hp2 others(5): Show HG00609.hp2 HG03831.hp1 NA18967.hp2 NA19000.hp2 NA19001.hp1 NA19054.hp2 NA19064.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	348	0.0230	317	c.53 others(328): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
HRH1_chr3_11149493_11268557	11162479	G G	GAAAAGAA others(310): Show GAAAAGAACTACTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0063 a0001c0002t0007g0063	1	352	0.0028	317	c.-36 others(334): Show c.-36+7932_-36+7933insCTACTGTCGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11162479	G G	GAAAAGAA others(310): Show GAAAAGAACTACTGTCGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18951.hp2 NA18984.hp2 others(1): Show HG03041.hp2 NA18951.hp2 NA18984.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0099 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0099 a0001c0001t0002g0101	4	352	0.0114	317	c.-36 others(334): Show c.-36+7932_-36+7933insCTACTGTCGGCCGGGTGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT GCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HSD17B7_chr1_162785702_162817823	162791518	G G	GCATTTGG others(310): Show GCATTTGGCATTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTG AGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02109.hp1 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0109 a0002c0003t0002g0110 a0001c0001t0002g0109 a0002c0003t0002g0110	2	420	0.0048	317	c.35+ others(330): Show c.35+697_35+698insTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGC GTGAGCCACCGCGCCCGGCCACATTTGGCATTTTT	HSD17B7	ENSG00000132196.16	transcript	ENST00000254521.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(310): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCG CCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCC GCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGC CTCCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	330	0.0030	317	c.124 others(332): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCC GCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCG CCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCC GCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
ICE2_chr15_60414609_60484142	60445616	A A	AATGAATT others(310): Show AATGAATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0166 a0007c0012t0001g0166	1	270	0.0037	317	c.229 others(336): Show c.2295+2353_2295+2354insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTCAT	ICE2	ENSG00000128915.12	transcript	ENST00000261520.9	protein_coding	11/15			chr15	TogoVar
IFNAR1_chr21_33319970_33364864	33323471	G G	GAATATAT others(310): Show GAATATATATGTGGAATATATATATGTGGAATATATATGTGGAATATATA TATGTGGAATATATATGTGGAATATATATATGTGGAATATATATGTGGAA TATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATATAT GGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATAT ATATATGGAATATATATGTGGAATATATATATGGAATATATATGTGGAAT ATATATATATGGAATATATATGTGGAATATATATGTGGAATATATATATA TGGAATATATATGTGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02717.hp1 others(3): Show HG02280.hp2 HG02572.hp1 HG02717.hp1 HG02922.hp1 HG03130.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0010 a0003c0003t0004g0122 a0003c0003t0004g0123 others(2): Show a0003c0003t0004g0010 a0003c0003t0004g0122 a0003c0003t0004g0123 a0003c0003t0004g0124 a0003c0003t0004g0143	6	323	0.0186	317	c.-15 others(328): Show c.-1585_-1584insAATATATATGTGGAATATATATATGTGGAATATA TATGTGGAATATATATATGTGGAATATATATGTGGAATATATATATGTGG AATATATATGTGGAATATATATGTGGAATATATATGTGGAATATATATGT GGAATATATATATATGGAATATATATGTGGAATATATATATATGGAATAT ATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATGGA ATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATG TGGAATATATATATATGGAATATATATGTGGAA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1498		chr21	TogoVar
IGF2R_chr6_159964082_160116504	160062978	T T	TGTGGAAA others(310): Show TGTGGAAATGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18998.hp2 NA18963.hp2 NA18998.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0007 a0001c0004 a0003c0007	a0001c0004t0003 a0003c0007t0006 a0001c0004t0003 a0003c0007t0006	a0001c0004t0003g0192 a0003c0007t0006g0272 a0001c0004t0003g0192 a0003c0007t0006g0272	2	310	0.0065	317	c.367 others(334): Show c.3670+374_3670+375insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGTGGAAATGGCTTTT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IKZF1_chr7_50299716_50410101	50405578	T T	TCCCTAGT others(310): Show TCCCTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGACCACAGGCGT GAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp2 NA19009.hp1 others(1): Show HG00099.hp1 HG00423.hp2 NA19009.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0005 a0001c0001t0024	a0001c0001t0005g0143 a0001c0001t0005g0148 a0001c0001t0005g0231 others(1): Show a0001c0001t0005g0143 a0001c0001t0005g0148 a0001c0001t0005g0231 a0001c0001t0024g0208	4	286	0.0140	317	c.49 others(328): Show c.4951_*4952insCCCTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGACCACAGGCGTGAGCCACCGCGCCCGGCC	IKZF1	ENSG00000185811.21	transcript	ENST00000331340.8	protein_coding		478		chr7	TogoVar
IKZF2_chr2_212994698_213156612	213085453	T T	TAAAAAAT others(310): Show TAAAAAATCTAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAG CCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACCCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	254	0.0039	317	c.140 others(336): Show c.140-28355_140-28354insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGGGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTT TTGTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCACTAGATTTTTT	IKZF2	ENSG00000030419.17	transcript	ENST00000434687.6	protein_coding	4/8			chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(310): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTAGATATATATTATATGTAATATATAATATATAATATATAATATATAA TATATAATATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01069.hp2 others(11): Show HG00280.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01255.hp2 HG03017.hp1 NA18946.hp1 NA18948.hp2 NA18964.hp2 NA18995.hp2 NA19065.hp1 NA19079.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0009 a0001c0002t0002 a0001c0001t0005 a0001c0001t0009 a0001c0002t0002	a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0036 others(7): Show a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0036 a0001c0001t0005g0098 a0001c0001t0005g0142 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0009g0074 a0001c0002t0002g0144	14	366	0.0383	317	c.-36 others(328): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATGTATAATATATAATATATAATGTATAATATA TAATATATATTATATATTAGATATATATTATATGTAATATATAATATATA ATATATAATATATAATATATAATATATAATATA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(310): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATATTATATGTAATATATAATATATAATATATAATATATAA TATATAATATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01123.hp1 HG01175.hp2 others(3): Show HG00738.hp2 HG01123.hp1 HG01175.hp2 HG03654.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0026 others(1): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0026 a0001c0001t0031	a0001c0001t0005g0015 a0001c0001t0017g0037 a0001c0001t0017g0141 others(3): Show a0001c0001t0005g0015 a0001c0001t0017g0037 a0001c0001t0017g0141 a0001c0001t0017g0143 a0001c0001t0026g0037 a0001c0001t0031g0015	6	366	0.0164	317	c.-36 others(328): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATGTATAATATATAATATATAATGTATAATATA TAATATATATTATATATTATATATATATTATATGTAATATATAATATATA ATATATAATATATAATATATAATATATAATATA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(310): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTAGATATATATTATATGTAATATATAATATATAATATATAATATATAA TATATAATATATAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(10): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01255.hp2 HG03017.hp2 NA18946.hp2 NA18948.hp2 NA18964.hp2 NA18995.hp2 NA19065.hp1 NA19079.hp2 NA20905.hp1	a0004 a0013 a0004 a0013	a0004c0004 a0013c0013 a0004c0004 a0013c0013	a0004c0004t0001 a0013c0013t0001 a0004c0004t0001 a0013c0013t0001	a0004c0004t0001g0008 a0004c0004t0001g0009 a0004c0004t0001g0065 others(5): Show a0004c0004t0001g0008 a0004c0004t0001g0009 a0004c0004t0001g0065 a0004c0004t0001g0069 a0004c0004t0001g0070 a0004c0004t0001g0071 a0004c0004t0001g0074 a0013c0013t0001g0067	13	348	0.0374	317	c.84 others(326): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATGTATAATATATAATATATAATGTATAATATATA ATATATATTATATATTAGATATATATTATATGTAATATATAATATATAAT ATATAATATATAATATATAATATATAATATA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352768	T T	TATAATAT others(310): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTTT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATGTATAATATATAATATATAATGTATAATATATAATATATATTATAT ATTATATATATATTATATGTAATATATAATATATAATATATAATATATAA TATATAATATATAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG01175.hp1 others(3): Show HG00738.hp1 HG01123.hp2 HG01175.hp1 HG03516.hp1 NA20129.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0171 a0004c0004t0001g0009 a0004c0004t0001g0066 others(3): Show a0001c0001t0001g0171 a0004c0004t0001g0009 a0004c0004t0001g0066 a0004c0004t0001g0068 a0004c0004t0001g0072 a0004c0004t0001g0073	6	348	0.0172	317	c.84 others(326): Show c.847_*848insATAATATATTTTATATATTATATATTATATATAATA TAATATGTATTTTATATATTATATTATATAAAATATAGTATATAATATAT AATATAATATATAATATATAATACAATATATAATATAATATATAATATAA AATATATAATATAATATATAATATATAATATAATATATAATGTATAATAT ATAATATAATATATAATGTATAATATATAATATATAATGTATAATATATA ATATATATTATATATTATATATATATTATATGTAATATATAATATATAAT ATATAATATATAATATATAATATATAATATA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		732		chr2	TogoVar
INO80_chr15_40973880_41121280	41031612	A A	AGGAAGGG others(310): Show AGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGA AAGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAG GAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGAAAGGGAGGA AGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0084 a0001c0002t0004g0084	1	282	0.0036	317	c.290 others(336): Show c.2908-3877_2908-3876insCTTCCTCCCTTCCTCCCTTCCTCCCT TTCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCTTTCCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INPP5F_chr10_119721050_119834147	119774618	A A	ACCTAGAC others(310): Show ACCTAGACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTAGGACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0002 a0001c0003t0018g0002	1	328	0.0031	317	c.179 others(334): Show c.179-7003_179-7002insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTAGGACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTT GTAGTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCTAGACATTTCTT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INSR_chr19_7107265_7299414	7148652	A A	ATTTCTTG others(310): Show ATTTCTTGTAGTAACGGGGTTTCACCATCTTGGTCAGGCTGGTCTCGAAC TCCTGGCCTCAAGTGATTGCCCCGCCTGGGCCTCTCAAAGTGTTGGGATT ACAGGCGTGAGCTACCAAGTCCAGCTGTGGCCCCAAATATTATTTTATTT TTATTTTTTTTGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAG TGGCACGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGTCACCAC GCCCGGCTAATTTTTATG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0007 a0007	a0007c0036 a0007c0036	a0007c0036t0131 a0007c0036t0131	a0007c0036t0131g0178 a0007c0036t0131g0178	1	300	0.0033	317	c.226 others(336): Show c.2267+1844_2267+1845insCATAAAAATTAGCCGGGCGTGGTGAC ACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTC CAGCCTGGGCCACAGAGCGAGACTCCGTCTCAAAAAAAATAAAAATAAAA TAATATTTGGGGCCACAGCTGGACTTGGTAGCTCACGCCTGTAATCCCAA CACTTTGAGAGGCCCAGGCGGGGCAATCACTTGAGGCCAGGAGTTCGAGA CCAGCCTGACCAAGATGGTGAAACCCCGTTACTACAAGAAA	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	11/21			chr19	TogoVar
INSYN2B_chr5_169856303_169985495	169939239	T T	TAAAAACT others(310): Show TAAAAACTAAGACACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0075 a0002c0007t0004g0075	1	318	0.0031	317	c.-91 others(338): Show c.-919+41037_-919+41038insTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTTGTGTCTTAGTTTTT	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3			chr5	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(310): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCT CCTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00558.hp2 others(35): Show HG00280.hp2 HG00408.hp2 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01168.hp2 HG01192.hp2 HG01346.hp1 HG01516.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp2 HG02056.hp2 HG02897.hp2 HG03017.hp2 HG04115.hp1 NA18906.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18971.hp1 NA18985.hp1 NA18986.hp1 NA19001.hp1 NA19057.hp1 NA19086.hp2 NA19087.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0047 others(35): Show a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0119 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0003g0218 a0001c0001t0003g0221	38	252	0.1508	317	c.10- others(334): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCT CCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(310): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCT CCTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	252	0.0040	317	c.10- others(334): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCCCTCCTCCCCCCTCCTCCTCCT CCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQGAP2_chr5_76398285_76713132	76563975	T T	TTTCAGTC others(310): Show TTTCAGTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTTT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCA AGCTCCGCCTCCCGGGTTTACGCCATTCTCCCGCCTCAGCCTCCCGTGTA GCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02055.hp1 HG02486.hp1	a0001 a0003 a0001 a0003	a0001c0018 a0003c0004 a0001c0018 a0003c0004	a0001c0018t0001 a0003c0004t0009 a0001c0018t0001 a0003c0004t0009	a0001c0018t0001g0125 a0003c0004t0009g0118 a0001c0018t0001g0125 a0003c0004t0009g0118	2	222	0.0090	317	c.303 others(334): Show c.303+1425_303+1426insCAGTCTGTTTTTCTTTTTTTTTTTTTTT TTTTTTTGAGGCGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTTACGCCATTCTCC CGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCGCGCCACCATGCCC GGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	3/35		INFO_REALIGN_3_PRIME	chr5	TogoVar

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