Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHN1_chr2_174793809_175010381	174871204	T T	TAAAGAGG others(314): Show TAAAGAGGAGCATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	276	0.0036	321	c.549 others(338): Show c.549+6635_549+6636insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCGATGCTCCTCTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174871204	T T	TAAAGAGG others(314): Show TAAAGAGGAGCATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02071.hp1 HG02683.hp2 others(3): Show HG01070.hp1 HG02071.hp1 HG02683.hp2 HG04199.hp1 NA18947.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0252	6	276	0.0217	321	c.549 others(338): Show c.549+6635_549+6636insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCGATGCTCCTCTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174871204	T T	TAAAGAGG others(314): Show TAAAGAGGAGCATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00609.hp1 others(47): Show HG00280.hp1 HG00558.hp2 HG00609.hp1 HG00738.hp1 HG01081.hp2 HG01168.hp2 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp2 HG02015.hp2 HG02040.hp1 HG02129.hp2 HG02630.hp1 HG03017.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp1 NA18942.hp2 NA18944.hp1 NA18951.hp2 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18967.hp1 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18987.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19006.hp2 NA19009.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0036 a0001c0001t0001g0193 a0001c0001t0001g0194 others(47): Show a0001c0001t0001g0036 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0009g0001	50	276	0.1812	321	c.549 others(338): Show c.549+6635_549+6636insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCGATGCTCCTCTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174871204	T T	TAAAGAGG others(314): Show TAAAGAGGAGCATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	276	0.0036	321	c.549 others(338): Show c.549+6635_549+6636insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCGATGCTCCTCTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHRM3_chr1_239381568_239920450	239616845	T T	TAAAAATA others(314): Show TAAAAATATTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG02723.hp1 others(5): Show HG01243.hp1 HG01255.hp2 HG02723.hp1 HG02818.hp2 HG03540.hp2 HG03831.hp1 NA18955.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0001t0026 a0001c0001t0033	a0001c0001t0003g0057 a0001c0001t0004g0064 a0001c0001t0012g0028 others(5): Show a0001c0001t0003g0057 a0001c0001t0004g0064 a0001c0001t0012g0028 a0001c0001t0012g0049 a0001c0001t0017g0004 a0001c0001t0017g0050 a0001c0001t0026g0091 a0001c0001t0033g0018	8	116	0.0690	321	c.-31 others(342): Show c.-312-15367_-312-15366insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATTCCA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNB4_chr15_78619111_78646210	78644313	T T	TAAGAGGT others(314): Show TAAGAGGTAGGGCCTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01192.hp2 HG03831.hp2 others(3): Show HG01106.hp2 HG01192.hp2 HG03831.hp2 NA18956.hp1 NA19000.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0003g0130 a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0003g0130	6	416	0.0144	321	c.-31 others(332): Show c.-3181_-3180insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATT TTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAAAGGCCCTACCTCTT	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding		3104		chr15	TogoVar
CLASRP_chr19_45034045_45075956	45038561	T T	TAAAAAAT others(314): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	364	0.0028	321	c.-57 others(330): Show c.-577_-576insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding		483		chr19	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(314): Show GCAAATTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp2 HG01167.hp2 others(38): Show HG01069.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01496.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18940.hp2 NA18955.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA19067.hp2 NA19072.hp1 NA19081.hp2 NA19084.hp2 NA19091.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0004c0006t0001	a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0044 others(34): Show a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0002g0005 a0001c0001t0002g0079 a0001c0001t0002g0097 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0154 a0001c0001t0002g0190 a0001c0001t0002g0207 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0009g0075 a0001c0001t0013g0329 a0004c0006t0001g0047	41	384	0.1068	321	c.215 others(336): Show c.215-176_215-175insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(314): Show GCAAATTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCTGGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	384	0.0026	321	c.215 others(336): Show c.215-176_215-175insGCCAGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLEC1A_chr12_10064554_10103985	10081588	G G	GCAAATTA others(314): Show GCAAATTAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	384	0.0026	321	c.215 others(336): Show c.215-176_215-175insGCCGGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTAATTTG	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(314): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGG CACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCA CCCCTCCTTCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCC GCACCACCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0236 a0002c0001t0002g0236	1	346	0.0029	321	c.360 others(340): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGGTGAAGCAGGGGTGGTGCGGGAG GTGCCGTGGATGACGGAAGGAGGGGTTTTGGGGGAGGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19240263	A A	ACCATAAC others(314): Show ACCATAACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAG CTGGGACTACAGGCGCCCGCCACCTCGCCTGGCTAATTTTTTTTTTGTAT TTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20129.hp1 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0200 a0001c0003t0003g0098 a0001c0003t0001g0200 a0001c0003t0003g0098	2	346	0.0058	321	c.682 others(336): Show c.682-876_682-875insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAA AAAAAATTAGCCAGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCG GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTTATGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	4/32			chr22	TogoVar
CLUAP1_chr16_3496004_3544048	3508912	G G	GAAAGAGT others(314): Show GAAAGAGTGAGCTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAAGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02602.hp1 HG02622.hp2 others(3): Show HG02486.hp1 HG02602.hp1 HG02622.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0013 a0005c0006t0007 a0005c0006t0013	a0005c0006t0007g0051 a0005c0006t0007g0052 a0005c0006t0007g0053 others(3): Show a0005c0006t0007g0051 a0005c0006t0007g0052 a0005c0006t0007g0053 a0005c0006t0013g0048 a0005c0006t0013g0049 a0005c0006t0013g0050	6	382	0.0157	321	c.399 others(336): Show c.399+454_399+455insCTGTGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAAGCCGAGGCGGGTGGATCATGAGGTCGGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAGTGAG	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3508912	G G	GAAAGAGT others(314): Show GAAAGAGTGAGCTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp1 HG02027.hp2 others(13): Show HG00558.hp2 HG02027.hp1 HG02027.hp2 HG02135.hp1 HG02622.hp1 HG03471.hp2 HG03491.hp2 HG03669.hp2 NA18950.hp1 NA18951.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp2 NA19010.hp1 NA19070.hp2 NA19074.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0004 a0006c0007 a0008c0009 a0001c0004 a0006c0007 a0008c0009	a0001c0004t0008 a0001c0004t0009 a0001c0004t0011 others(3): Show a0001c0004t0008 a0001c0004t0009 a0001c0004t0011 a0001c0004t0022 a0006c0007t0014 a0008c0009t0021	a0001c0004t0008g0077 a0001c0004t0009g0004 a0001c0004t0009g0033 others(9): Show a0001c0004t0008g0077 a0001c0004t0009g0004 a0001c0004t0009g0033 a0001c0004t0009g0036 a0001c0004t0011g0032 a0001c0004t0011g0034 a0001c0004t0011g0037 a0001c0004t0011g0038 a0001c0004t0011g0039 a0001c0004t0022g0035 a0006c0007t0014g0010 a0008c0009t0021g0040	16	382	0.0419	321	c.399 others(336): Show c.399+454_399+455insCTGTGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAGTGAG	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172992	A A	AGGGAGAG others(314): Show AGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAG ACGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGA CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAG AGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGGAGACGGGA GAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGA GACGGGAGAGGGAGAGGGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	322	0.0031	321	c.31 others(332): Show c.3187_*3188insGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC TCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCC TCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCC TCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCG TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2323		chr2	TogoVar
CNBD1_chr8_86861415_87387859	87136914	T T	TTTATATT others(314): Show TTTATATTATATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATAATATAAATATATATATTTATATTATATATAAATATATAT ATTTATATTATATATAAATATATATATTTATATTATATATAAATTATATA ATTTATATTATATATAAATATATATATTTATATTATATATAAATTATATA ATTTATATTATATATAAATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	152	0.0066	321	c.432 others(340): Show c.432-69078_432-69077insTATATTATATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATAATATAAATATATATATT TATATTATATATAAATATATATATTTATATTATATATAAATATATATATT TATATTATATATAAATTATATAATTTATATTATATATAAATATATATATT TATATTATATATAAATTATATAATTTATATTATATATAAATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(314): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGG AGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGA GGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAG GGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGG GGAGGGAAGGGGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp1 HG02622.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0014 a0001c0001t0001g0015	2	308	0.0065	321	c.637 others(336): Show c.637+145_637+146insTCCCTTCCCTCCCCTTCCCTCCCCTTCCCT TCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCT CCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCC AGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCC CCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCC CTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCCCC TTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133793	T T	TCTCTCTC others(314): Show TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTGT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCCACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	223	0.0045	321	c.-42 others(332): Show c.-4251_-4250insCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3968		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133833	C C	CTCCCTCT others(314): Show CTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCA CCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCCACCTCCCCTCACTCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	223	0.0090	321	c.-42 others(332): Show c.-4211_-4210insTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTC ACTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCA CCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCC CCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3928		chr19	TogoVar
CNOT4_chr7_135356795_135515102	135452280	T T	TAAGAAAA others(314): Show TAAGAAAATAGGGACAGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAACGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	362	0.0028	321	c.-92 others(340): Show c.-92-13858_-92-13857insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCGTTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGCCTGTCCCTATTTTCTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135452280	T T	TAAGAAAA others(314): Show TAAGAAAATAGGGACAGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02083.hp2 NA18939.hp1 others(9): Show HG00597.hp2 HG02083.hp2 NA18939.hp1 NA18953.hp2 NA18954.hp1 NA18990.hp1 NA18999.hp2 NA19007.hp2 NA19075.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0003g0351 others(9): Show a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0003g0351 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361	12	362	0.0332	321	c.-92 others(340): Show c.-92-13858_-92-13857insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGCCTGTCCCTATTTTCTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNTN4_chr3_2093866_3062959	2920305	T T	TAGAAAGA others(314): Show TAGAAAGAGGCTGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACACGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0004 a0001c0023t0004	a0001c0023t0004g0041 a0001c0023t0004g0041	1	116	0.0086	321	c.120 others(340): Show c.1208-5320_1208-5319insAGAGGCTGGATTGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCC CAGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2920305	T T	TAGAAAGA others(314): Show TAGAAAGAGGCTGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGACTGA GGCAGGAGAATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02647.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0059 a0001c0001t0008g0043 a0001c0001t0001g0059 a0001c0001t0008g0043	2	116	0.0172	321	c.120 others(340): Show c.1208-5320_1208-5319insAGAGGCTGGATTGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGACTGAGGCAGGAGAATGGCGGGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAG AGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2920305	T T	TAGAAAGA others(314): Show TAGAAAGAGGCTGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGACTGA GGCAGGAGAATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0024 a0001c0002t0003g0024	1	116	0.0086	321	c.120 others(340): Show c.1208-5320_1208-5319insAGAGGCTGGATTGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCC CAGCTACTCGGGAGACTGAGGCAGGAGAATGGCGGGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAG AGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2920305	T T	TAGAAAGA others(314): Show TAGAAAGAGGCTGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGACTGA GGCAGGAGAATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02965.hp2 others(2): Show HG01891.hp1 HG02559.hp2 HG02965.hp2 HG03130.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0006 others(2): Show a0001c0002 a0001c0005 a0001c0006 a0002c0015 a0002c0016	a0001c0002t0001 a0001c0005t0001 a0001c0006t0002 others(2): Show a0001c0002t0001 a0001c0005t0001 a0001c0006t0002 a0002c0015t0003 a0002c0016t0003	a0001c0002t0001g0029 a0001c0005t0001g0092 a0001c0006t0002g0051 others(2): Show a0001c0002t0001g0029 a0001c0005t0001g0092 a0001c0006t0002g0051 a0002c0015t0003g0103 a0002c0016t0003g0079	5	116	0.0431	321	c.120 others(340): Show c.1208-5320_1208-5319insAGAGGCTGGATTGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCC CAGCTACTTGGGAGACTGAGGCAGGAGAATGGCGGGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACCGCACTCCAGCCTGGGCGACAG AGCCAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146946775	T T	TCTTGGAA others(314): Show TCTTGGAAAGCATTTTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG03098.hp2 others(1): Show HG02451.hp2 HG02630.hp1 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0002 a0001c0002t0001 a0001c0003t0004 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0004 a0001c0012t0004	a0001c0001t0002g0006 a0001c0002t0001g0021 a0001c0003t0004g0029 others(1): Show a0001c0001t0002g0006 a0001c0002t0001g0021 a0001c0003t0004g0029 a0001c0012t0004g0026	4	40	0.1000	321	c.403 others(340): Show c.403-97115_403-97114insTTTCTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTTGGAAAGCATTTTCT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COG3_chr13_45459939_45541701	45517557	T T	TTGGTTTG others(314): Show TTGGTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02572.hp1 HG02615.hp1 others(1): Show HG01975.hp1 HG02572.hp1 HG02615.hp1 NA20300.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0013 a0002c0005t0003 a0002c0005t0013	a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153 others(1): Show a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153 a0002c0005t0013g0154	4	342	0.0117	321	c.193 others(340): Show c.1931-1198_1931-1197insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGTTTG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(314): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0297 a0001c0002t0004g0297	1	324	0.0031	321	c.365 others(340): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(314): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18961.hp1 NA18998.hp1 others(2): Show NA18952.hp2 NA18961.hp1 NA18998.hp1 NA19005.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0175 a0001c0002t0002g0104 a0001c0002t0002g0105 others(2): Show a0001c0001t0001g0175 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0188 a0001c0002t0002g0283	5	292	0.0171	321	c.106 others(340): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL25A1_chr4_108803725_109307658	109000840	T T	TAAAGACT others(314): Show TAAAGACTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0042 a0001c0002t0005g0042	1	130	0.0077	321	c.438 others(338): Show c.438+9517_438+9518insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAAGTCTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109079795	T T	TAAGAGTT others(314): Show TAAGAGTTCAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	130	0.0077	321	c.368 others(340): Show c.368-29617_368-29616insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTTGAACTCTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL4A2_chr13_110302284_110518209	110424448	A A	AAATAAGT others(314): Show AAATAAGTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCACCCGCCACTACACCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18949.hp2 NA18963.hp1 others(2): Show HG03704.hp1 NA18949.hp2 NA18963.hp1 NA18984.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0003 a0001c0001t0004 a0001c0005t0001 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0005t0001 a0001c0008t0003	a0001c0001t0003g0091 a0001c0001t0004g0348 a0001c0005t0001g0184 others(2): Show a0001c0001t0003g0091 a0001c0001t0004g0348 a0001c0005t0001g0184 a0001c0005t0001g0249 a0001c0008t0003g0081	5	372	0.0134	321	c.181 others(336): Show c.181-270_181-269insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCACCCGCCACTACACCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAATAAGTTAATTCTTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110424448	A A	AAATAAGT others(314): Show AAATAAGTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0084 a0004c0084	a0004c0084t0005 a0004c0084t0005	a0004c0084t0005g0253 a0004c0084t0005g0253	1	372	0.0027	321	c.181 others(336): Show c.181-270_181-269insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAATAAGTTAATTCTTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110424448	A A	AAATAAGT others(314): Show AAATAAGTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(79): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18975.hp2 NA18981.hp2 NA18982.hp2 NA18992.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19080.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0018 a0020 a0025 a0026	a0001c0001 a0001c0002 a0001c0003 others(41): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0016 a0001c0024 a0001c0025 a0001c0028 a0001c0029 a0001c0037 a0001c0051 a0001c0100 a0002c0006 a0002c0013 a0002c0017 a0002c0019 a0002c0038 a0002c0054 a0002c0055 a0002c0056 a0002c0073 a0002c0082 a0002c0087 a0003c0007 a0003c0010 a0003c0040 a0003c0070 a0003c0094 a0003c0095 a0004c0009 a0005c0020 a0005c0021 a0005c0043 a0006c0033 a0008c0023 a0009c0057 a0018c0049 a0020c0096 a0025c0103 a0026c0104	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(61): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0008t0001 a0001c0008t0004 a0001c0011t0004 a0001c0011t0013 a0001c0014t0001 a0001c0014t0009 a0001c0016t0007 a0001c0024t0003 a0001c0025t0001 a0001c0028t0001 a0001c0028t0002 a0001c0029t0001 a0001c0037t0020 a0001c0051t0004 a0001c0100t0001 a0002c0006t0001 a0002c0006t0005 a0002c0006t0006 a0002c0013t0002 a0002c0017t0002 a0002c0019t0002 a0002c0019t0037 a0002c0038t0002 a0002c0054t0045 a0002c0055t0016 a0002c0056t0004 a0002c0073t0002 a0002c0082t0004 a0002c0087t0001 a0003c0007t0005 a0003c0010t0004 a0003c0040t0002 a0003c0070t0005 a0003c0094t0025 a0003c0095t0003 a0004c0009t0001 a0005c0020t0002 a0005c0020t0006 a0005c0021t0006 a0005c0021t0028 a0005c0043t0002 a0006c0033t0012 a0008c0023t0009 a0009c0057t0001 a0018c0049t0031 a0020c0096t0010 a0025c0103t0004 a0026c0104t0006	a0001c0001t0003g0063 a0001c0001t0003g0135 a0001c0001t0005g0115 others(78): Show a0001c0001t0003g0063 a0001c0001t0003g0135 a0001c0001t0005g0115 a0001c0001t0010g0033 a0001c0001t0010g0035 a0001c0002t0001g0152 a0001c0002t0001g0180 a0001c0002t0001g0243 a0001c0002t0002g0318 a0001c0002t0003g0051 a0001c0002t0003g0067 a0001c0002t0003g0079 a0001c0002t0004g0275 a0001c0002t0004g0292 a0001c0002t0005g0158 a0001c0002t0006g0046 a0001c0002t0023g0305 a0001c0003t0001g0232 a0001c0003t0001g0248 a0001c0003t0002g0296 a0001c0003t0002g0341 a0001c0004t0003g0140 a0001c0005t0001g0102 a0001c0005t0002g0332 a0001c0005t0002g0342 a0001c0005t0003g0071 a0001c0005t0003g0080 a0001c0008t0001g0202 a0001c0008t0004g0285 a0001c0011t0004g0207 a0001c0011t0013g0105 a0001c0011t0013g0220 a0001c0011t0013g0255 a0001c0014t0001g0146 a0001c0014t0009g0004 a0001c0016t0007g0235 a0001c0024t0003g0087 a0001c0025t0001g0201 a0001c0028t0001g0167 a0001c0028t0002g0304 a0001c0029t0001g0161 a0001c0037t0020g0069 a0001c0051t0004g0315 a0001c0100t0001g0164 a0002c0006t0001g0258 a0002c0006t0005g0157 a0002c0006t0006g0070 a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0013t0002g0265 a0002c0017t0002g0370 a0002c0019t0002g0303 a0002c0019t0037g0026 a0002c0038t0002g0360 a0002c0054t0045g0233 a0002c0055t0016g0250 a0002c0056t0004g0266 a0002c0073t0002g0213 a0002c0082t0004g0366 a0002c0087t0001g0256 a0003c0007t0005g0221 a0003c0010t0004g0002 a0003c0010t0004g0268 a0003c0010t0004g0351 a0003c0040t0002g0261 a0003c0070t0005g0226 a0003c0094t0025g0175 a0003c0095t0003g0082 a0004c0009t0001g0244 a0005c0020t0002g0270 a0005c0020t0006g0073 a0005c0021t0006g0054 a0005c0021t0028g0239 a0005c0043t0002g0273 a0006c0033t0012g0336 a0008c0023t0009g0015 a0009c0057t0001g0234 a0018c0049t0031g0045 a0020c0096t0010g0208 a0025c0103t0004g0301 a0026c0104t0006g0085	82	372	0.2204	321	c.181 others(336): Show c.181-270_181-269insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAATAAGTTAATTCTTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110424448	A A	AAATAAGT others(314): Show AAATAAGTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01891.hp2 HG02055.hp2 others(3): Show HG00738.hp1 HG01891.hp2 HG02055.hp2 HG02258.hp2 HG02809.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0001c0022 a0001c0074 others(3): Show a0001c0014 a0001c0022 a0001c0074 a0002c0013 a0002c0041 a0002c0064	a0001c0014t0026 a0001c0022t0018 a0001c0074t0014 others(3): Show a0001c0014t0026 a0001c0022t0018 a0001c0074t0014 a0002c0013t0008 a0002c0041t0018 a0002c0064t0009	a0001c0014t0026g0156 a0001c0022t0018g0173 a0001c0074t0014g0043 others(3): Show a0001c0014t0026g0156 a0001c0022t0018g0173 a0001c0074t0014g0043 a0002c0013t0008g0006 a0002c0041t0018g0003 a0002c0064t0009g0170	6	372	0.0161	321	c.181 others(336): Show c.181-270_181-269insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAATAAGTTAATTCTTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110424448	A A	AAATAAGT others(314): Show AAATAAGTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0091 a0002c0091	a0002c0091t0001 a0002c0091t0001	a0002c0091t0001g0210 a0002c0091t0001g0210	1	372	0.0027	321	c.181 others(336): Show c.181-270_181-269insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACTGCGCCCGGCCAATAAGTTAATTCTTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110424448	A A	AAATAAGT others(314): Show AAATAAGTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0067 a0003c0067	a0003c0067t0050 a0003c0067t0050	a0003c0067t0050g0151 a0003c0067t0050g0151	1	372	0.0027	321	c.181 others(336): Show c.181-270_181-269insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAATAAGTTAATTCTTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CRYBB1_chr22_26594278_26623027	26601643	T T	TCTAACAG others(314): Show TCTAACAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	426	0.0024	321	c.575 others(336): Show c.575+235_575+236insGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGTTAG	CRYBB1	ENSG00000100122.7	transcript	ENST00000647684.1	protein_coding	5/5			chr22	TogoVar
CRYBB1_chr22_26594278_26623027	26601643	T T	TCTAACAG others(314): Show TCTAACAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00642.hp1 others(41): Show HG00438.hp1 HG00621.hp2 HG00642.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp1 HG01261.hp1 HG01978.hp2 HG02027.hp2 HG02071.hp1 HG02135.hp2 HG02886.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18964.hp1 NA18965.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0034 others(22): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0175	44	426	0.1033	321	c.575 others(336): Show c.575+235_575+236insGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGTTAG	CRYBB1	ENSG00000100122.7	transcript	ENST00000647684.1	protein_coding	5/5			chr22	TogoVar
CSMD1_chr8_2930361_4999914	4901525	T T	TAAGAATT others(314): Show TAAGAATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA GAAAAAAAAAGAAAAAGAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0069 a0001c0071t0069	a0001c0071t0069g0115 a0001c0071t0069g0115	1	126	0.0079	321	c.85+ others(338): Show c.85+92806_85+92807insTTTTTCTTTTTCTTTTTTTTTCTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAATTCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149537754	A A	ACACATGA others(314): Show ACACATGAATAGTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	390	0.0026	321	c.230 others(340): Show c.230+12320_230+12321insGGGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGACTATTCATGTG	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149537754	A A	ACACATGA others(314): Show ACACATGAATAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	390	0.0026	321	c.230 others(340): Show c.230+12320_230+12321insGGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGACTATTCATGTG	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1D_chr17_82237667_82278700	82254627	G G	GAAGCCAG others(314): Show GAAGCCAGTGAGCTGAGCCGCCGGAGCCTCCAGAAGCCAGTCAGCTGAGC CGCCGGAGCCTCGAGACGCCAGTGAGCTGAGCCGCCGGAGCCTCGAGAAG CCAGTGAGCTGAGCCGCCGGAGCCTCGAGAAGCCAGTGCGCTGAGCCACC GGAGCCTCGAGAAGCCAGTCAGCTGAGCCGCCGGGGCCTCGAGAAGCCAG TCAGCTGAGCCGCCGGGGCCTCGAGAAGCCAGTGTGCTGAGCCGCCGGGG GCCTCGAGAAGCCAGTCAGCTGAGCCGCCGGGGCCTCCAGAAGCCAGTGA GCTGAGCCATCGGAGCCTCGAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00544.hp1 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0196 a0001c0001t0001g0197	2	320	0.0063	321	c.336 others(336): Show c.336+801_336+802insGTCGAGGCTCCGATGGCTCAGCTCACTGGC TTCTGGAGGCCCCGGCGGCTCAGCTGACTGGCTTCTCGAGGCCCCCGGCG GCTCAGCACACTGGCTTCTCGAGGCCCCGGCGGCTCAGCTGACTGGCTTC TCGAGGCCCCGGCGGCTCAGCTGACTGGCTTCTCGAGGCTCCGGTGGCTC AGCGCACTGGCTTCTCGAGGCTCCGGCGGCTCAGCTCACTGGCTTCTCGA GGCTCCGGCGGCTCAGCTCACTGGCGTCTCGAGGCTCCGGCGGCTCAGCT GACTGGCTTCTGGAGGCTCCGGCGGCTCAGCTCACTGGCTT	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	3/8			chr17	TogoVar
CSRP2_chr12_76853709_76884019	76881936	A A	AAGCCTCT others(314): Show AAGCCTCTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTGT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	388	0.0026	321	c.-30 others(332): Show c.-3001_-3000insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAACACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAGAGGCT	CSRP2	ENSG00000175183.10	transcript	ENST00000311083.10	protein_coding		2918		chr12	TogoVar
CTNNA3_chr10_65907523_67701195	66457640	T T	TAAAAAAA others(314): Show TAAAAAAAAAAAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCATTGCAGTCCGTAGTCCGGCCTGGGCAACACAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	46	0.0217	321	c.153 others(342): Show c.1531+62976_1531+62977insTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTGTTGCCCAGGCCGGACTACGGACTGCAATGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTTNBP2_chr7_117705651_117878441	117716193	A A	AACTTTTT others(314): Show AACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTAAAAAATAAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19030.hp2 HG02818.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0074 a0002c0002t0002g0088 a0002c0002t0002g0074 a0002c0002t0002g0088	2	164	0.0122	321	c.474 others(340): Show c.4746+1824_4746+1825insGTTATTTTTTAGGCCGGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	22/22			chr7	TogoVar
CXorf51B_chrX_146804771_146815411	146808267	T T	TAATAAAA others(314): Show TAATAAAATTATATAGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01978.hp2 NA19074.hp2 HG01361.hp2 HG01978.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	272	0.0110	321	c.-15 others(332): Show c.-1525_-1524insAATAAAATTATATAGTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1503		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146808267	T T	TAATAAAA others(314): Show TAATAAAATTATATAGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAACTTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18992.hp1 NA18942.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	272	0.0074	321	c.-15 others(332): Show c.-1525_-1524insAATAAAATTATATAGTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAACTTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1503		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146808270	T T	TAAAATTA others(314): Show TAAAATTATATAGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	321	c.-15 others(332): Show c.-1522_-1521insAAAATTATATAGTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1500		chrX	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(314): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp2 NA18939.hp2 others(1): Show HG02015.hp1 HG02015.hp2 NA18939.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0005g0083	4	320	0.0125	321	c.546 others(338): Show c.546+3884_546+3885insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar

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