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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CFAP46_chr10_132803392_132947570	132852325	T T	TTAAGAAT others(452): Show TTAAGAATTCTCAGATCCTGATCCACAGACGTAGTATGTTCCTCCAGTTA CTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTT ACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATT TACGTAGGAATTCTCAGATCCTGATCCACAGATGTGGTATGTTCCTCCAT TTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCA TTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCC ATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTC CAGTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCT CCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCC TCCATTTACG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0070 a0070	a0070c0108 a0070c0108	a0070c0108t0002 a0070c0108t0002	a0070c0108t0002g0094 a0070c0108t0002g0094	1	246	0.0041	459	c.557 others(478): Show c.5575-1021_5575-1020insCGTAAATGGAGGAACATACCACGTCT GTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTC TGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACCACGT CTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACG TCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCAC GTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCA CATCTGTGGATCAGGATCTGAGAATTCCTACGTAAATGGAGGAACATACC ACGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATAC CACGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATA CTACGTCTGTGGATCAGGATCTGAGAATTCTTA		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852325	T T	TTAAGAAT others(452): Show TTAAGAATTCTCAGATCCTGATCCACAGACGTAGTATGTTCCTCCAGTTA CTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTT ACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATT TATGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCAT TTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCA TTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCC ATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTC CATTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCT CCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCC TCCATTTACG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp1 others(6): Show HG00099.hp1 HG00280.hp1 HG00544.hp1 HG00733.hp1 HG01081.hp2 NA18940.hp2 NA18960.hp2 NA18980.hp1 NA19060.hp2	a0011 a0018 a0030 others(2): Show a0011 a0018 a0030 a0034 a0071	a0011c0010 a0018c0020 a0030c0056 others(2): Show a0011c0010 a0018c0020 a0030c0056 a0034c0057 a0071c0068	a0011c0010t0001 a0018c0020t0001 a0030c0056t0001 others(2): Show a0011c0010t0001 a0018c0020t0001 a0030c0056t0001 a0034c0057t0001 a0071c0068t0002	a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 others(6): Show a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0018c0020t0001g0149 a0018c0020t0001g0150 a0030c0056t0001g0136 a0034c0057t0001g0234 a0071c0068t0002g0012	9	246	0.0366	459	c.557 others(478): Show c.5575-1021_5575-1020insCGTAAATGGAGGAACATACCACGTCT GTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTC TGTGGATCAGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCACGT CTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACG TCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCAC GTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCA CGTCTGTGGATCAGGATCTGAGAATTCCTACATAAATGGAGGAACATACC ACGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATAC CACGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATA CTACGTCTGTGGATCAGGATCTGAGAATTCTTA		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852325	T T	TTAAGAAT others(452): Show TTAAGAATTCTCAGATCCTGATCCACAGACGTAGTATGTTCCTCCAGTTA CTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTT ACTTAAGACTTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATT TACGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCAT TTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCA TTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCC ATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTC CAGTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCT CCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCC TCCATTTACG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(67): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19090.hp2 NA20805.hp1 NA20905.hp1	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0017 a0021 a0035 a0038 a0062 a0063 a0069 a0072 a0073 a0074	a0002c0002 a0002c0003 a0002c0023 others(19): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0003c0007 a0003c0012 a0003c0080 a0004c0019 a0004c0038 a0004c0052 a0017c0031 a0017c0095 a0021c0033 a0035c0035 a0038c0066 a0062c0051 a0063c0067 a0069c0050 a0072c0053 a0073c0055 a0074c0065	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(20): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0080t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0017c0031t0002 a0017c0095t0002 a0021c0033t0001 a0021c0033t0004 a0035c0035t0001 a0038c0066t0001 a0062c0051t0001 a0063c0067t0002 a0069c0050t0001 a0072c0053t0001 a0073c0055t0001 a0074c0065t0001	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 others(66): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0003c0007t0002g0056 a0003c0007t0002g0057 a0003c0007t0002g0058 a0003c0007t0002g0059 a0003c0007t0002g0060 a0003c0007t0002g0062 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0080t0002g0074 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0017c0031t0002g0030 a0017c0031t0002g0072 a0017c0095t0002g0114 a0021c0033t0001g0238 a0021c0033t0004g0237 a0035c0035t0001g0161 a0038c0066t0001g0231 a0062c0051t0001g0180 a0063c0067t0002g0013 a0069c0050t0001g0178 a0072c0053t0001g0191 a0073c0055t0001g0183 a0074c0065t0001g0232	70	246	0.2846	459	c.557 others(478): Show c.5575-1021_5575-1020insCGTAAATGGAGGAACATACCACGTCT GTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTC TGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACCACGT CTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACG TCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCAC GTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCA CGTCTGTGGATCAGGATCTGAGAATTCCTACGTAAATGGAGGAACATACC ACGTCTGTGGATCAGGATCTGAGAAGTCTTAAGTAAATGGAGGAACATAC CACGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATA CTACGTCTGTGGATCAGGATCTGAGAATTCTTA		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852325	T T	TTAAGAAT others(452): Show TTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCAGTTA CTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTT ACTTAAGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATT TACGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCAT TTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCA TTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCC ATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTC CAGTTACTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCT CCATTTACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCC TCCATTTACG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0012 a0055 a0012 a0055	a0012c0076 a0055c0075 a0012c0076 a0055c0075	a0012c0076t0001 a0055c0075t0001 a0012c0076t0001 a0055c0075t0001	a0012c0076t0001g0131 a0055c0075t0001g0235 a0012c0076t0001g0131 a0055c0075t0001g0235	2	246	0.0081	459	c.557 others(478): Show c.5575-1021_5575-1020insCGTAAATGGAGGAACATACCACGTCT GTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACGTC TGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATACCACGT CTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCACG TCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATACCAC GTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCA CGTCTGTGGATCAGGATCTGAGAATTCCTACGTAAATGGAGGAACATACC ACGTCTGTGGATCAGGATCTGAGAATTCTTAAGTAAATGGAGGAACATAC CACGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATA CCACGTCTGTGGATCAGGATCTGAGAATTCTTA		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57						chr10	TogoVar
CFAP46_chr10_132803392_132947570	132852381	A A	AATTCTCA others(452): Show AATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTATGTAG GAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTATGTA GGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTT AGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCATTTACT TAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCATTTAC TTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCAGTTA CTTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTTCTCCATTT ACTTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATT TACGTAGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCAT TTACTTAGAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03669.hp2 HG03927.hp1 HG03239.hp1 HG03669.hp2 HG03927.hp1	a0009 a0028 a0009 a0028	a0009c0021 a0028c0058 a0009c0021 a0028c0058	a0009c0021t0001 a0028c0058t0001 a0009c0021t0001 a0028c0058t0001	a0009c0021t0001g0243 a0009c0021t0001g0244 a0028c0058t0001g0154 a0009c0021t0001g0243 a0009c0021t0001g0244 a0028c0058t0001g0154	3	246	0.0122	459	c.557 others(478): Show c.5575-1077_5575-1076insGTCTAAGTAAATGGAGGAACATACCA CGTCTGTGGATCAGGATCTGAGAATTCCTACGTAAATGGAGGAACATACC ACGTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACATAC CACGTCTGTGGATCAGGATCTGAGAATTCCTAAGTAACTGGAGGAACATA CCACGTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACAT ACCACGTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGAAACA TACCACGTCTGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAAC ATACCACGTCTGTGGATCAGGATCTGAGAATTCCTACATAAATGGAGGAA CATACCACGTCTGTGGATCAGGATCTGAGAATTCCTACATAAATGGAGGA ACATACCACGTCTGTGGATCAGGATCTGAGAAT		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57						chr10	TogoVar
CFAP61_chr20_20047532_20365698	20357749	C C	CAGTGTAC others(452): Show CAGTGTACGGGGAGGTGGTCATACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGG GAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCA CATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	236	0.0042	459	c.351 others(478): Show c.3514-2456_3514-2455insACGGGGAGGTGGTCATACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCATAGTGT		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFD_chr19_854664_868641	866872	G G	GCCAGCGC others(452): Show GCCAGCGCTCCCATGTCCTCCCCGTCCGCCCACCGCAGGCCTGCACCCCT CGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCC TCACCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCC CTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCACC CCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCTGCAC CCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCTGCA CCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCGCAGGCCCGC ACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTG CACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCC ACACCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	287	0.0035	459	c.36 others(470): Show c.3634_*3635insCCAGCGCTCCCATGTCCTCCCCGTCCGCCCACCG CAGGCCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCC GCGGGCCCGCACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCGC CGCGGGCCCACACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCG CCGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCC GCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACC CGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGC CCACCGCAGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCA CCCGCCGCGGGCCTGCACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCC ACCCGCCGCGGGCCCACACCCCTCA		CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding					3232		chr19	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(452): Show ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTAATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATTAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAA ATATTTTATT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	402	0.0025	459	c.80- others(474): Show c.80-4988_80-4987insAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTAATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATTAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATAT TTTATTTATTTATTTTAATATATAAAATA		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(452): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAA ATATTTTATT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	402	0.0025	459	c.80- others(474): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATAT TTTATTTATTTATTTTAATATATAAAATA		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHST13_chr3_126519155_126548291	126539875	A A	ACACACCC others(452): Show ACACACCCCAAACCACACATGGACCCTCCACACACCACACACACACCACA CATTCCACACAAGCACACTACACCACACAAGCACACCACACGCATACCAC ACAAAAATGCCACACATTCCCACACACCACAAACACACCACCCACATGAC ACACACTACACACACACCACACACCATATATGCCACACACAACACACACA ACACACGCTACACACACACCCCATACACACACACCACACACACCAGACAC ACACAAACACCACACACACCAGACACAACACACAACACACACACACCACA GGTGTGCACCACACACACACCACATGCACACAGACATACCACCTACCAAA AGTGTGCACCACACGCACCACGAGCATACCAACACACACCACACACACCA TACAGACACACCACACACACACCACACACACTCCATACACATACAACACA CAACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0004 a0009c0011t0004	a0009c0011t0004g0084 a0009c0011t0004g0084	1	364	0.0028	459	c.181 others(476): Show c.181-1853_181-1852insCCCAAACCACACATGGACCCTCCACACA CCACACACACACCACACATTCCACACAAGCACACTACACCACACAAGCAC ACCACACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAAC ACACCACCCACATGACACACACTACACACACACCACACACCATATATGCC ACACACAACACACACAACACACGCTACACACACACCCCATACACACACAC CACACACACCAGACACACACAAACACCACACACACCAGACACAACACACA ACACACACACACCACAGGTGTGCACCACACACACACCACATGCACACAGA CATACCACCTACCAAAAGTGTGCACCACACGCACCACGAGCATACCAACA CACACCACACACACCATACAGACACACCACACACACACCACACACACTCC ATACACATACAACACACAACACACACCACAC		CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST13_chr3_126519155_126548291	126539875	A A	ACACACCC others(452): Show ACACACCCCAAACCACACATGGACCCTCCACACACCACACACACACCACA CATTCCACACAAGCACACTACACCACACAAGCACACCACACGCATACCAC ACAAAAATGCCACACATTCCCACACACCACAAACACACCACCCACATGAC ACACACTACACACACACCACACACCATATATGCCACACACAACACACACA ACACACGCTACACACACACCCCATACACACACACCACACACACCAGACAC ACACAAACACCACACACACCAGACACAACACACAACACACACACACCACA GGTGTGCACCACACACACACCACATGCACACAGACATACCACCTACCAAA AGTGTGCACCACACGCACCACGTGCATACCAACACACACCACACACACCA TACAGACACACCACACACACACCACACACACTCCATACACATACAACACA CAACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(177): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18979.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0007	a0001c0001 a0003c0007 a0004c0003 others(2): Show a0001c0001 a0003c0007 a0004c0003 a0005c0006 a0007c0009	a0001c0001t0001 a0003c0007t0001 a0003c0007t0006 others(3): Show a0001c0001t0001 a0003c0007t0001 a0003c0007t0006 a0004c0003t0002 a0005c0006t0001 a0007c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(59): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0134 a0003c0007t0001g0043 a0003c0007t0001g0092 a0003c0007t0001g0098 a0003c0007t0001g0108 a0003c0007t0001g0116 a0003c0007t0006g0114 a0004c0003t0002g0003 a0004c0003t0002g0036 a0004c0003t0002g0037 a0004c0003t0002g0091 a0004c0003t0002g0093 a0004c0003t0002g0099 a0004c0003t0002g0105 a0004c0003t0002g0106 a0004c0003t0002g0107 a0004c0003t0002g0132 a0005c0006t0001g0005 a0007c0009t0002g0003 a0007c0009t0002g0103 a0007c0009t0002g0104	180	364	0.4945	459	c.181 others(476): Show c.181-1853_181-1852insCCCAAACCACACATGGACCCTCCACACA CCACACACACACCACACATTCCACACAAGCACACTACACCACACAAGCAC ACCACACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAAC ACACCACCCACATGACACACACTACACACACACCACACACCATATATGCC ACACACAACACACACAACACACGCTACACACACACCCCATACACACACAC CACACACACCAGACACACACAAACACCACACACACCAGACACAACACACA ACACACACACACCACAGGTGTGCACCACACACACACCACATGCACACAGA CATACCACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACA CACACCACACACACCATACAGACACACCACACACACACCACACACACTCC ATACACATACAACACACAACACACACCACAC		CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST13_chr3_126519155_126548291	126539875	A A	ACACACCC others(452): Show ACACACCCCAAACCACACATGGACCCTCCACACACCACACACACACCACA CATTCCACACAAGCACACTACACCACACAAGCACACCACACGCATACCAC ACAAAAATGCCACACATTCCCACACACCACAAACACACCACCCACATGAC ACACACTACACACACACCACACACCATATATGCCACACACAACACACACA ACACACGCTACACACACACCCCATACACACACACCACACACACCAGACAC ACACAAACACCACACACACCAGACACAACACACAACACACACACACCACA GGTGTGCACCACACACACACCACATGCACACAGACATACCACCTATCAAA AGTGTGCACCACACGCACCACGTGCATACCAACACACACCACACACACCA TACAGACACACCACACACACACCACACACACTCCATACACATACAACACA CAACACACAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	364	0.0028	459	c.181 others(476): Show c.181-1853_181-1852insCCCAAACCACACATGGACCCTCCACACA CCACACACACACCACACATTCCACACAAGCACACTACACCACACAAGCAC ACCACACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAAC ACACCACCCACATGACACACACTACACACACACCACACACCATATATGCC ACACACAACACACACAACACACGCTACACACACACCCCATACACACACAC CACACACACCAGACACACACAAACACCACACACACCAGACACAACACACA ACACACACACACCACAGGTGTGCACCACACACACACCACATGCACACAGA CATACCACCTATCAAAAGTGTGCACCACACGCACCACGTGCATACCAACA CACACCACACACACCATACAGACACACCACACACACACCACACACACTCC ATACACATACAACACACAACACACACCACAC		CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST13_chr3_126519155_126548291	126539875	A A	ACACACCC others(452): Show ACACACCCCAAACCACACATGGACCCTCCACACACCACACACACACCACA CATTCCACACAAGCACACTACACCACACAAGCACACCACACGCATACCAC ACAAAAATGCCACACATTCCCACACACCACAAACACACCACCCACATGAC ACATACTACACACACACCACACACCATATATGCCACACACAACACACACA ACACACGCTACACACACACCCCATACACACACACCACACACACCAGACAC ACACAAACACCACACACACCAGACACAACACACAACACACACACACCACA GGTGTGCACCACACACACACCACATGCACACAGACATACCACCTACCAAA AGTGTGCACCACACGCACCACGTGCATACCAACACACACCACACACACCA TACAGACACACCACACACACACCACACACACTCCATACACATACAACACA CAACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	364	0.0028	459	c.181 others(476): Show c.181-1853_181-1852insCCCAAACCACACATGGACCCTCCACACA CCACACACACACCACACATTCCACACAAGCACACTACACCACACAAGCAC ACCACACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAAC ACACCACCCACATGACACATACTACACACACACCACACACCATATATGCC ACACACAACACACACAACACACGCTACACACACACCCCATACACACACAC CACACACACCAGACACACACAAACACCACACACACCAGACACAACACACA ACACACACACACCACAGGTGTGCACCACACACACACCACATGCACACAGA CATACCACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACA CACACCACACACACCATACAGACACACCACACACACACCACACACACTCC ATACACATACAACACACAACACACACCACAC		CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGGGAC others(452): Show TGGGGGACATGTGAGGATCATGGGAAGACCCGTGAGGATCATGGGGGGGA CGTGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGA GGATCATGGGGGGGGAAGTGTGAGGATCATAGGGGAGACCCGTGAGGGTC ATGGGGGGATGTGTGAGGATCATGGGGGGGGATGTGTGAGGATCATAGAG GGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGACCCG TGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCAT GGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGACGT GAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGATCAT GGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACCCGT GAGGATCATG	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19088.hp1 HG02148.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0079 a0001c0001t0002g0082	2	128	0.0156	459	c.177 others(476): Show c.1776+248_1776+249insACATGTGAGGATCATGGGAAGACCCGTG AGGATCATGGGGGGGACGTGTGAGGATCATAGGGGAGACCCGTGAGGGTC ATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTGTGAGGATCATAGGG GAGACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGATG TGTGAGGATCATAGAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGA TCATGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGG GACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAG GATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGG GACGTGTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAG GATTGGGGGGACCCGTGAGGATCATGGGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89587808	C C	CCCCCCGT others(452): Show CCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGAAACACG GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCAC AGATACACGG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0332 a0002c0004t0002g0332	1	348	0.0029	459	c.927 others(474): Show c.927+720_927+721insACAGATACACGGCCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGAA ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAG ATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(452): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG AGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0111 a0001c0111	a0001c0111t0045 a0001c0111t0045	a0001c0111t0045g0063 a0001c0111t0045g0063	1	126	0.0079	459	c.416 others(480): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCC TCCCCCTCCTCTCCCCCTCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCC TCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCAC ATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(452): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCCCTCATGCCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCTTTCCCGGGCCCTGACCC CCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18968.hp2 HG02257.hp2 NA18968.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0005 a0002c0003t0001 a0002c0003t0005	a0002c0003t0001g0128 a0002c0003t0005g0158 a0002c0003t0001g0128 a0002c0003t0005g0158	2	418	0.0048	459	c.737 others(474): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCCCTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCC CTTTCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACC CCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCT		CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14						chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGAGGGAG others(452): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGTGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	367	0.0027	459	c.-42 others(470): Show c.-4255_-4254insGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGTGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGG TGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTG		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					4175		chr16	TogoVar
DNM2_chr19_10713079_10836903	10758435	C C	CTCCTTCC others(452): Show CTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCTTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCTTCCCTCCT TCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	278	0.0036	459	c.162 others(476): Show c.162-1300_162-1299insTTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCTCCTTCCCTC CCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCTTCC		DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758443	T T	TTCCTTCC others(452): Show TTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCT CCTTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCC TCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTC CTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	278	0.0036	459	c.162 others(476): Show c.162-1284_162-1283insTTCCTTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCTTCCCTCCTTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCTTCCCTC CTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTCCT TCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC		DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758443	T T	TTCCTTCC others(452): Show TTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCT CCTTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCC TCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTC CTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	278	0.0036	459	c.162 others(476): Show c.162-1284_162-1283insTTCCTTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCTTCCCTCCTTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCTTCCCTC CTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTCCT TCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC		DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr19	TogoVar
DPYSL2_chr8_26509031_26663175	26556306	G G	GTATATAT others(452): Show GTATATATATAGTATATATATAGTATATATATACTATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATAGTATATATATA TAGTATATATATAGTATATATATAGTGTATATATATAGTATATATATAGT GTATATATATAGTATATATATAGTATATATATAGTATATATAGTATATAT GTATATATATATAGTATATATATAGTATATATATATAGTATATATATAGT ATATATATATAGTATATATATAGTATATATATATAGTATATATATAGTAT ATATATAGTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0124 a0001c0003t0009g0124	1	316	0.0032	459	c.355 others(478): Show c.355-25653_355-25652insGTATATATATAGTATATATATACTAT ATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATATAGTATATATATAGTATATATATAGTGTATATATATA GTATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTAT ATATAGTATATATGTATATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATATAGTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
EHMT1_chr9_137614005_137841127	137716276	G G	GTTGGTGT others(452): Show GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGG TGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0031 a0004c0013t0001g0031	1	170	0.0059	459	c.86- others(472): Show c.86-350_86-349insTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAG TTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGGAGGAAGTT		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26						chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716489	T T	TGGGGGAG others(452): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGGGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0055 a0001c0007t0001g0055	1	170	0.0059	459	c.86- others(472): Show c.86-121_86-120insTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGGGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGGGAGGAAGTTGTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(452): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0185 a0002c0001t0001g0185	1	208	0.0048	459	c.282 others(478): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAG		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52					INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(452): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTG TATACAAAGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02145.hp1 HG02717.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0011 a0004c0008t0001 a0004c0008t0011	a0004c0008t0001g0158 a0004c0008t0011g0167 a0004c0008t0001g0158 a0004c0008t0011g0167	2	208	0.0096	459	c.282 others(478): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTAT ACAAAGTCTTTGTATACAGTCTTGTATACAAAG		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52					INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(452): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTG TATACAAAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0159 a0001c0046t0001g0159	1	208	0.0048	459	c.282 others(478): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTAT ACAAAGTCTTTGTATACAGTCTTGTATACAAAG		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52					INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD3_chr9_137301896_137428162	137322733	A A	ACGAGGGA others(452): Show ACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCA ATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGG AACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTC TCTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTC ACCCTGGACCAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGG ATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACA CCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCCCACCCCGGACC CACGAGGGATGCTCTGCCGACACCCCACCCCGGACCCACGAGGGATGCTC TGCCGACACCCCACCGCGGACCCCCGAGGGATTCTCTGCCGACACCCCAC CCCGGACCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0022 a0016c0019t0001g0022	1	82	0.0122	459	c.218 others(476): Show c.2184+991_2184+992insGGGGTCCGGGGTGGGGTGTCGGCAGAGA ATCCCTCGGGGGTCCGCGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTC CGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGGGGTGTC GGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGTGTCGGCAGAGCATCCCTGGTCCAGGGTGAGGCGTCGGCAGAGAAT CCCTCGTGGGTCTGGGGTGAGGTGTCGGCAGAGAATTCCTCGGGGTCTGG GGTGGGGTGTCGGCAGAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGAC AGAGCATCCCTCGTGGGTCTGGGGTGAGGTATTGGCAGAGCATCCCTGGT CCGGGGTGAGGTGTCGGCAGAGCATCCCTCG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322733	A A	ACGAGGGA others(452): Show ACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCA ATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGG AACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTC TTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTC ACCCTGGACCAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGG ATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACA CCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGAAT CATGAGGGATGCTCTGCCGATACCTCACCCCAGACCCACGAGGGATGCTC TGCCGACACCCCACCGCGGACCCCCGAGGGATTCTCTGCCGACACCTCAC CCCGGACCCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0055 a0012c0011t0001g0055	1	82	0.0122	459	c.218 others(476): Show c.2184+991_2184+992insGGGGTCCGGGGTGAGGTGTCGGCAGAGA ATCCCTCGGGGGTCCGCGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTC TGGGGTGAGGTATCGGCAGAGCATCCCTCATGATTCCGGGGTGAGGTGTC GGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGTGTCGGCAGAGCATCCCTGGTCCAGGGTGAGGCGTCGGCAGAGAAT CCCTCGTGGGTCTGGGGTGAGGTGTCGGCAAAGAATTCCTCGGGGTCTGG GGTGGGGTGTCGGCAGAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGAC AGAGCATCCCTCGTGGGTCTGGGGTGAGGTATTGGCAGAGCATCCCTGGT CCGGGGTGAGGTGTCGGCAGAGCATCCCTCG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322733	A A	ACGAGGGA others(452): Show ACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCA ATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGG AACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTC TTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTC ACCCTGGACCAGGGATGCTCTGCCGACGCCTCACCCCGGACCCACGAGGG ATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACA CCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACC CACGAGGGATGCTCTGCCGACACCCCACCCCGGACCCACGAGGGATGCTC TGCCGACACCCCACCGCGGACCCCCGAGGGATTCTCTGCCGACACCCCAC CCCGGACCCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	82	0.0122	459	c.218 others(476): Show c.2184+991_2184+992insGGGGTCCGGGGTGGGGTGTCGGCAGAGA ATCCCTCGGGGGTCCGCGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTC CGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTC GGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGCGTCGGCAGAGCATCCCTGGTCCAGGGTGAGGCGTCGGCAGAGAAT CCCTCGTGGGTCTGGGGTGAGGTGTCGGCAAAGAATTCCTCGGGGTCTGG GGTGGGGTGTCGGCAGAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGAC AGAGCATCCCTCGTGGGTCTGGGGTGAGGTATTGGCAGAGCATCCCTGGT CCGGGGTGAGGTGTCGGCAGAGCATCCCTCG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322742	G G	GCTCTGCC others(452): Show GCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCAATACCTCAC CCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGGAACCATGAG GGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTCTCTGCCGAC ACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTCACCCTGGAC CAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGC CGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCCCACCCCGGACCCACGAGGGA TGCTCTGCCGACACCCCACCCCGGACCCACGAGGGATGCTCTGCCGACAC CCCACCCCGGACCCACGAGGGATGCTCTGCCGACACCCCACCGCGGACCC CCGAGGGATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0027 a0027	a0027c0017 a0027c0017	a0027c0017t0001 a0027c0017t0001	a0027c0017t0001g0007 a0027c0017t0001g0007	1	82	0.0122	459	c.218 others(476): Show c.2184+982_2184+983insAATCCCTCGGGGGTCCGCGGTGGGGTGT CGGCAGAGCATCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCC TCGTGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGG TGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAG AGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGG GTCCGGGGTGAGGTGTCGGCAGAGCATCCCTGGTCCAGGGTGAGGCGTCG GCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCGGCAGAGAATTCCTC GGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCATGGTTCCGGGGCAA GGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGAGGTATTGGCAGAGC ATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(452): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATATATACACTGTATATG TATATATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTA TATATACACTATATATACACTATATAGTGTATATATAGTATATATATACT GTATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	204	0.0049	459	c.114 others(478): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAT ATAGTGTATATATACACTATATATACATATACAGTGTATAGTGTATATAT ACACTATATATACATATACAGTGTATAGTGTATATATACACTATATATAC ATATACAGTGTATATATAGTGTATATATACACTATATATACATATACAGT GTATATATACACTATATATACACTATATATGTATATATATACATATATAG TGTATATATAGTGTATATATACTATATATATAGTGTATATATACTATATA TATAGTGTATATACACTATATATATAGTGTATATATACTATATATAGTGT ATATATACTATACATATATAGTGTATATATAGT		GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9						chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241807931	T T	TCCCTCCC others(452): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCT CTGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	314	0.0064	459	c.37 others(470): Show c.3765_*3766insCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC TCAGCCCAGGGACCTCTGCAGGCCA		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3645		chr2	TogoVar
GALR1_chr18_77244848_77282900	77252992	C C	CCACCACC others(452): Show CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	366	0.0027	459	c.666 others(476): Show c.666+1792_666+1793insTCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCATCACCACCACCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(452): Show CCTGGCCCCCGCATCTTCTCCTCCTGGCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCCGC ATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTC CTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGG CCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGGCCCCACAT CTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCT CCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGGCCC CGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCCATATCTT CTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTCTGTTCCG GTAGCCTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0032 a0001c0027t0001g0032	2	396	0.0051	459	c.239 others(468): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCCA GGAGGAGAAGATGCGGGGGCCAG	p.Ala others(472): Show p.Ala799_Gly800insAlaGluAlaThrGlyThrGluGlyGluAlaVa lGlyThrArgGluAspAlaGlyAlaGlyGluAspMetGlyAlaGlyGlyG luAspAlaGlyProGlyGlyGluAspAlaGlyProGlyGlyGluAspAla GlyAlaGlyGlyGluAspAlaGlyAlaGlyGlyGluAspValGlyAlaGl yGlyGluAspValGlyAlaGlyGlyGluAspValGlyProGlyGlyGluA spValGlyAlaGlyGlyGluAspValGlyProGlyGlyGluAspAlaGly GlyArgArgArgArgCysGlyGlyArgArgArgArgCysGlyAlaArgAr gArgArgCysGlyGlyArgArgArgArgCysGlyGlyGlnGluGluLysM etArgGlyAlaGlyGlyGluAspAlaGlyGlyArgArgArgArgCysGly GlyGlnGluGluLysMetArgGlyPro	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(452): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACACACCACACACACCACACATGCACAC CACACACATACACGCATACACCCATACACACACATCATACACACACACAC CACACACACCACACACATATACGCATACACCCATACACACACATCATACA CACACATACACCACACACACCACACACGCACACCACACACATATACACAC ATACACCCATGCACACACATCATACACACACAAACCACACATACCACACA CATACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG02886.hp2 others(7): Show HG01243.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03516.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0062 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0312 a0001c0001t0005g0167	10	414	0.0242	459	c.32 others(470): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTG TATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGT GTGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGT GTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTA TGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTG TGGTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTG GTGTGTGTGTGTATGATGTGTGTGT		GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding					2938		chr1	TogoVar
GPIHBP1_chr8_143208218_143222170	143218336	C C	CACCACCC others(452): Show CACCACCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCCACACCACCCCCAACACCACCCCCACACCACCCCCAACACCAGC CCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCA ACACCACCCCAACACCACCCCCAACACCATCCCCCACACCAGCCCCAACA CCATCCCCAACACCACCCCCAACACCACCCCCACCACCACCCCCAACACC ACCCCCAACACCACCCCCACCACCCCCACACCACCCCCACACCACCCCCA CACCACCCCCACACCACCCCCAACACCACCCCCACACTGCCCCCACACCA GCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCC CAACACCACCCCCAACACCACCCAACACCATGCCCCACACCACCCCCAAC ACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0002	1	106	0.0094	459	c.28 others(470): Show c.2818_*2819insACCACCCCCACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCCACACC ACCCCCAACACCAGCCCCAACACCAGCCCCAACACCACCCCAATACCTCC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCC ACACCAGCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCACC ACCACCCCCAACACCACCCCCAACACCACCCCCACCACCCCCACACCACC CCCACACCACCCCCACACCACCCCCACACCACCCCCAACACCACCCCCAC ACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACC ACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCC CACACCACCCCCAACACCACCCCCA		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					1167		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(452): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTGTATATATATAAATATATATATTTATATATAT ATATTTTATACATATAAATATATATTATAAATATATATTTATACATATAA ATATATATTATAAATATATATATTTATATTTATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATATAAATATATATA TTTATATTTATTTATATATATATAAATATATATTTATATATAAATATATA TATTTATATTTATTTCTATATATAAATATATATATTTATATATATAAATA TATATTTATATATATAAATATATATATTTATATTTATAAATATATATATT TATATATATT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	208	0.0048	459	c.-97 others(476): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTGTATATATATAAATATATATATTTATAT ATATATATTTTATACATATAAATATATATTATAAATATATATTTATACAT ATAAATATATATTATAAATATATATATTTATATTTATTTATATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATATAAATATA TATATTTATATTTATTTATATATATATAAATATATATTTATATATAAATA TATATATTTATATTTATTTCTATATATAAATATATATATTTATATATATA AATATATATTTATATATATAAATATATATATTTATATTTATAAATATATA TATTTATATATATTTATATATAAATATATAT		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073920	T T	TATTTATA others(452): Show TATTTATATTTATTTTTATATATATAAATATATATATTTATATATATAAA TAAATATAAATATATATATTTATATGTATATATATAAATATATATATTTA TATATATATATTTTATACATATAAATATATATTATAAATATATATTTATA CATATAAATATATATTATAAATATATATATTTATATTTATTTATATATAT AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATTTATATATAATTATATATTTATATATATAAATATATATATTTATA TATAAATATATATATTATATTTATTTCTATATATAAATATATATATTTAT ATATATAAATATATATTTATATATATAAATATATATATTTATATTTATAA ATATATATATTTATATATTATATTTATATATATTTATATATATTTATATA TAAATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0041 a0007c0010t0041	a0007c0010t0041g0127 a0007c0010t0041g0127	1	208	0.0048	459	c.-97 others(476): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTATATATATATATTTTATACATATAAATATA TATTATAAATATATATTTATACATATAAATATATATTATAAATATATATA TTTATATTTATTTATATATATAATATATATATTTATATATATAAATATAT ATATTTATATATATAAATATATATATTTATATATAATTATATATTTATAT ATATAAATATATATATTTATATATAAATATATATATTATATTTATTTCTA TATATAAATATATATATTTATATATATAAATATATATTTATATATATAAA TATATATATTTATATTTATAAATATATATATTTATATATTATATTTATAT ATATTTATATATATTTATATATAAATATATA		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1						chrX	TogoVar
HELZ2_chr20_63553086_63579239	63571704	C C	CGGTGGGC others(452): Show CGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCT GTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCC TGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGC CTGTGGTGGGCTCCTGCCCTACTCCAAGCTCCTGGGAACCTCTGGCTCTG CCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCT GCCTACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTC TGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCT CTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGC TCTGCCTACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGG CTCTGCCTGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0114 a0001c0001t0082g0114	1	390	0.0026	459	c.278 others(474): Show c.278+403_278+404insACAGGCAGAGCCAGAGGCTCCCAGGAGCTT GGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCT TGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGAGC TTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGAG CTTGGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGA GCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGG AGCTTGGAGTAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAG GAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCA GGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCC AGGAGCTTGGAGCAGGGCAGGAGCCCACC		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19						chr20	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(452): Show TCTACCACCACCATCACTACTACCACCACCATCACCACCATCACCACCAC CACCACCATCACCTCTACCACCACCATCACCACCACCACCACCACCACCT CTACCACCACCATCACTACTACCACCACCACCACCTCTACCACCATCGCT ACCATCACCACCACCACCACTATCACCGCCACCATCGCTACCATCACCAC CACCACCACTATCACCGCCACCACCACCAATACCACTACCACCACCATCA CTACCACCACCACCACCATCACCACCTCTACCATCGCTACCATCACCACC ACCACCACTACCATCATCACCACTACCACCATCACCACCTCTACCACCAC CATCACCACCACCACTATCACCACCTCCACCACCACCATCACCACCACCA CCACCACCACCTCTACCACCACCATCACTACTACCACCACCACCACCTCT ACCACCATCG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp2 HG02735.hp1 HG01106.hp2 HG01433.hp2 HG02735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0081 a0001c0004t0084 a0001c0004t0012 a0001c0004t0081 a0001c0004t0084	a0001c0004t0012g0108 a0001c0004t0081g0104 a0001c0004t0084g0105 a0001c0004t0012g0108 a0001c0004t0081g0104 a0001c0004t0084g0105	3	134	0.0224	459	c.520 others(480): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGGTGG TGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGT GGTGATGGTGGTAGTGGTGATGATGGTAGTGGTGGTGGTGGTGATGGTAG CGATGGTAGAGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTA GTGGTATTGGTGGTGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGC GATGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGCGATGGTGGTAG AGGTGGTGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTAGTAGTGATGGTGGTGGTAG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399229	C C	CCGCCGCT others(452): Show CCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCACCGCCACCACCGCCAC CATCACCGCCACCACCATCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCA CCACCACCAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	314	0.0032	459	c.-25 others(476): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCGCCACCACCGCCACCATCACCGCCACCACCATCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCATC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(452): Show CGCCCCCACAGCCGCCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCACAGC CATCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCAC AGCCATCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCC CACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCC CCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0084 a0001c0007t0001g0084	1	312	0.0032	459	c.-41 others(474): Show c.-41+629_-41+630insCCCCACAGCCGCCCCCCTCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC ACCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCACAG CCATCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCA CAGCCATCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCC CCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGC CCCCCACAGCTGCCCCCACAGCCGCCCCC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TCACCACC others(452): Show TCACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACC ATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCACCAT TATCACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCA CCACCATCACCATTATCACCACCACCATCACCACCATCACCATCACCACC ACCACCATCACCATCACCATTACCACCACCATTACCACCACCATCACCAT CACCATCACCACCACCACCACCACCATCACCACCATCACCATCACCATTA TCACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACC ACCATCACCATTATCACCACCACCATCACCACCATCACCACCACCACCAT CACCATCACCACCACCATCACCATTATCACCACCACCATCACCACCATCA CCATCACCAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0080 a0001c0002t0080	a0001c0002t0080g0236 a0001c0002t0080g0236	1	330	0.0030	459	c.691 others(474): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGGTG GTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGATGGTG GTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAAT GGTGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGG TGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGG TAATGGTGGTGGTAATGGTGATGGTGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(452): Show GATATTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGA TAATATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATA TAGATATTATCTATATTATAGATAATATCTATAATATAGATATAGATATT ATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAAT ATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTA TAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATA TCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATC TATATCTATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0002 a0003c0026t0002	a0003c0026t0002g0384 a0003c0026t0002g0384	1	414	0.0024	459	c.480 others(474): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATAT TATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATCTATATCTATATTAT AGATATTATCTATAATATAGATAATATCTATATTATAGATATTATCTATA ATATAGATAATATCTATATTATAGATATTATCTATAATATAGATATAGAT AATATCTATATCTATAATATAGATAATAT		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(452): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACACACCACACACACCACACATGCACAC CACACACATACACGCATACACCCATACACACACATCATACACACACACAC CACACACACCACACACATATACGCATACACCCATACACACACATCATACA CACACATACACCACACACACCACACACGCACACCACACACATATACACAC ATACACCCATGCACACACATCATACACACACAAACCACACATACCACACA CATACACCAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG02886.hp2 others(7): Show HG01243.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03516.hp2 NA18522.hp2 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0007 a0003c0003t0008 a0003c0003t0006 a0003c0003t0007 a0003c0003t0008	a0003c0003t0006g0039 a0003c0003t0006g0066 a0003c0003t0006g0082 others(3): Show a0003c0003t0006g0039 a0003c0003t0006g0066 a0003c0003t0006g0082 a0003c0003t0007g0065 a0003c0003t0007g0083 a0003c0003t0008g0016	10	400	0.0250	459	c.-39 others(476): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATG TGTGTGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTG TGTGGTGTGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTG TGTGGTGTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTG TGTGTATGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTG CATGTGTGGTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATG TGTGTGGTGTGTGTGTGTATGATGTGTGTGT		KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2						chr1	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATATATAT others(452): Show ATATATATATATATATATATACATACATATATATATATATACATACATAT ATATATATATATACATACATATATATACATACATACATATATATATATAC ATACATACATATATATATATACATACATATATATATATACATACATATAT ATATATATATACACATACATATATATATACATACATATATATATATACAT ACATATATATATATACATACATATATATATACACATACATATATATATAT ACATACATATATATATATACACATATATATATACATACATATATATATAC ATACATATATATATATACACATACATATATATATATACACACATATATAT ATACACACATATATATATACACATATATATATACACATATACATATATAT ATATACATACACATATATATATATATATATATGTATATATATATATATAT ATATATGTAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0163 a0001c0004t0001g0163	1	300	0.0033	459	c.218 others(474): Show c.218+246_218+247insATATATATATATATATATACATACATATAT ATATATATACATACATATATATATATATATACATACATATATATACATAC ATACATATATATATATACATACATACATATATATATATACATACATATAT ATATATACATACATATATATATATATATACACATACATATATATATACAT ACATATATATATATACATACATATATATATATACATACATATATATATAC ACATACATATATATATATACATACATATATATATATACACATATATATAT ACATACATATATATATACATACATATATATATATACACATACATATATAT ATATACACACATATATATATACACACATATATATATACACATATATATAT ACACATATACATATATATATATACATACACATATATATATATATATATAT GTATATATATATATATATATATATGTATT		LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(452): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATTATATAATAATATATATACAATATATAATTA TATATTATATAATTATATATAATATATAATTATATATTATATATAATATA TAATTATATATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATTAATATATAATTATATATAA TATATAATTATATATTATATATAATATATAATTATATATTATATAATAAT ATATAATTATTAATATATAATTATATATAATATATAATTATATATTATAT AATAATATATAATTATATATTATATATAATTATATATTATATAATAACAT ATAATTATATATAATATATAAATATATAATATATAAATATATAATATATA AATATATATA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	316	0.0032	459	c.622 others(474): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATTATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATAAT ATATAATTATATATTATATATAATATATAATTATATATTATATAATAATA TATAATTATTAATATATAATTATATATAATATATAATTATATATTATATA ATAATATATAATTATATATTATATATAATTATATATTATATAATAACATA TAATTATATATAATATATAAATATATAATATATAAATATATAATATATAA ATATATATAATATATAATTATATATAATA		LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
LUC7L_chr16_183990_234449	186374	G G	GGGAACAG others(452): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGAC ACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	350	0.0029	459	c.28 others(470): Show c.2823_*2824insTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCC TCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2615		chr16	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(452): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCCGGCGCCT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0034	1	292	0.0034	459	c.218 others(474): Show c.2189-97_2189-96insAGGCGCCGGGGGGGCACACTCGCCAGGAGC CCATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAG GAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGG GGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGC CTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG CGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGG GGGCACACTCGCCAGGAGCCCATGTGAGG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36						chr1	TogoVar

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