Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(308): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC GGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03831.hp2 HG04228.hp1 HG01243.hp1 HG03831.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0233 a0001c0003t0001g0060 a0001c0003t0001g0079 a0001c0001t0002g0233 a0001c0003t0001g0060 a0001c0003t0001g0079	3	370	0.0081	315	c.189 others(334): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGATTT		FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
FILIP1L_chr3_99823811_100119501	99936540	T T	TAATTTTT others(308): Show TAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19007.hp1 NA18971.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0077 a0001c0001t0003g0084	2	258	0.0078	315	c.-10 others(332): Show c.-10-5511_-10-5510insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAATACAAAAATT		FILIP1L	ENSG00000168386.19	transcript	ENST00000477258.2	protein_coding	1/5						chr3	TogoVar
FKBP15_chr9_113156006_113226277	113207344	A A	ACTAATTT others(308): Show ACTAATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTA AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0189 a0004c0005t0001g0189	1	410	0.0024	315	c.170 others(328): Show c.170-49_170-48insGCCGGGCGCGGTGGCTTACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAG		FKBP15	ENSG00000119321.10	transcript	ENST00000238256.8	protein_coding	2/27						chr9	TogoVar
FKBP15_chr9_113156006_113226277	113207344	A A	ACTAATTT others(308): Show ACTAATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0023 a0004c0005t0023	a0004c0005t0023g0265 a0004c0005t0023g0265	1	410	0.0024	315	c.170 others(328): Show c.170-49_170-48insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAG		FKBP15	ENSG00000119321.10	transcript	ENST00000238256.8	protein_coding	2/27						chr9	TogoVar
FKBP15_chr9_113156006_113226277	113207344	A A	ACTAATTT others(308): Show ACTAATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp1 HG02922.hp1 others(3): Show HG01081.hp2 HG02451.hp1 HG02922.hp1 HG03139.hp1 HG03471.hp2 NA20129.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0015 a0007c0009t0015	a0007c0009t0015g0008 a0007c0009t0015g0066 a0007c0009t0015g0107 others(2): Show a0007c0009t0015g0008 a0007c0009t0015g0066 a0007c0009t0015g0107 a0007c0009t0015g0108 a0007c0009t0015g0109	6	410	0.0146	315	c.170 others(328): Show c.170-49_170-48insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAACGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAATTAG		FKBP15	ENSG00000119321.10	transcript	ENST00000238256.8	protein_coding	2/27						chr9	TogoVar
FMN2_chr1_240086883_240480187	240185119	C C	CCCCCTTC others(308): Show CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0010 a0010	a0010c0118 a0010c0118	a0010c0118t0007 a0010c0118t0007	a0010c0118t0007g0136 a0010c0118t0007g0136	1	174	0.0058	315	c.193 others(334): Show c.1931-3038_1931-3037insTACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA		FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXN3_chr14_89151177_89422233	89362554	A A	ACCACCTC others(308): Show ACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCAC CACCACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACCT CCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCAGCACCACC TCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCTCCAC CACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCA GCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCTCCAGCACC AGCTCCACCACCTCCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	230	0.0044	315	c.544 others(334): Show c.544-11747_544-11746insAGGAGGTGGTGGAGCTGGTGCTGGAG GTGGTGGTGGTGGTGGTGGTGGAGGAGGAGGTGGTGGAGCTGGTGCTGGA GGTGGTGGTGGTGGTGGTGGAGGAGGAGGAGGTGGTGGTGGTGGAGGAGG AGGAGGAGGTGGTGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGCTG GAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGCT GGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(308): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCC GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTT TTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18986.hp2 NA18941.hp2 NA18986.hp2	a0005 a0005	a0005c0004 a0005c0019 a0005c0004 a0005c0019	a0005c0004t0011 a0005c0019t0003 a0005c0004t0011 a0005c0019t0003	a0005c0004t0011g0150 a0005c0019t0003g0080 a0005c0004t0011g0150 a0005c0019t0003g0080	2	178	0.0112	315	c.272 others(334): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AAGCGTGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT		FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73					INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(308): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTT TTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp2 HG02055.hp2 others(8): Show HG00738.hp2 HG01884.hp2 HG02055.hp2 HG02071.hp2 HG02622.hp2 HG02818.hp1 HG03453.hp1 HG03471.hp2 HG04184.hp2 HG06807.hp1 NA18945.hp1	a0002 a0004 a0005 others(6): Show a0002 a0004 a0005 a0006 a0007 a0012 a0013 a0024 a0080	a0002c0053 a0004c0018 a0005c0004 others(7): Show a0002c0053 a0004c0018 a0005c0004 a0005c0019 a0006c0016 a0007c0042 a0012c0045 a0013c0023 a0024c0090 a0080c0044	a0002c0053t0044 a0004c0018t0015 a0005c0004t0003 others(8): Show a0002c0053t0044 a0004c0018t0015 a0005c0004t0003 a0005c0004t0022 a0005c0019t0029 a0006c0016t0008 a0007c0042t0002 a0012c0045t0003 a0013c0023t0006 a0024c0090t0033 a0080c0044t0016	a0002c0053t0044g0032 a0004c0018t0015g0131 a0005c0004t0003g0082 others(8): Show a0002c0053t0044g0032 a0004c0018t0015g0131 a0005c0004t0003g0082 a0005c0004t0022g0122 a0005c0019t0029g0143 a0006c0016t0008g0178 a0007c0042t0002g0018 a0012c0045t0003g0047 a0013c0023t0006g0097 a0024c0090t0033g0163 a0080c0044t0016g0030	11	178	0.0618	315	c.272 others(334): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA ATTTTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AAGCGTGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT		FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73					INFO_REALIGN_3_PRIME	chr4	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(308): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTT CCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA ACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCC CCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCACCC TCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCGTTCCCCCTCCCC GCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0217 a0001c0003t0005g0217	1	230	0.0044	315	c.109 others(330): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAACG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGTGCAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTG GGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGG CGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGG GGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCA GTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(308): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTT CCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCCCCCCACCC CGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCACCCTCCCCTTC CCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGTGCCC TCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCGTTCCCCCTCCCC GCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01168.hp2 NA18983.hp1 HG00423.hp2 HG01168.hp2 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001	a0001c0003t0003g0070 a0001c0003t0005g0221 a0001c0004t0001g0165 a0001c0003t0003g0070 a0001c0003t0005g0221 a0001c0004t0001g0165	3	230	0.0130	315	c.109 others(330): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAACG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCACAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGTGC AGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGG CGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGG GGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCA GTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13						chr21	TogoVar
GAA_chr17_80096581_80124881	80113808	C C	CAAGAGTT others(308): Show CAAGAGTTCGAGGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00558.hp1 others(58): Show HG00280.hp2 HG00408.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01256.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG03239.hp2 HG03704.hp1 HG03927.hp1 NA18941.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp1	a0004 a0005 a0017 others(4): Show a0004 a0005 a0017 a0020 a0021 a0025 a0027	a0004c0005 a0004c0031 a0005c0006 others(7): Show a0004c0005 a0004c0031 a0005c0006 a0005c0017 a0005c0032 a0017c0041 a0020c0025 a0021c0035 a0025c0030 a0027c0033	a0004c0005t0002 a0004c0031t0002 a0005c0006t0002 others(8): Show a0004c0005t0002 a0004c0031t0002 a0005c0006t0002 a0005c0006t0014 a0005c0017t0002 a0005c0032t0002 a0017c0041t0002 a0020c0025t0002 a0021c0035t0002 a0025c0030t0002 a0027c0033t0002	a0004c0005t0002g0003 a0004c0005t0002g0006 a0004c0005t0002g0012 others(24): Show a0004c0005t0002g0003 a0004c0005t0002g0006 a0004c0005t0002g0012 a0004c0005t0002g0022 a0004c0005t0002g0061 a0004c0005t0002g0126 a0004c0005t0002g0127 a0004c0005t0002g0134 a0004c0005t0002g0135 a0004c0031t0002g0003 a0005c0006t0002g0003 a0005c0006t0002g0010 a0005c0006t0002g0029 a0005c0006t0002g0042 a0005c0006t0002g0128 a0005c0006t0002g0130 a0005c0006t0002g0132 a0005c0006t0002g0137 a0005c0006t0002g0138 a0005c0006t0014g0042 a0005c0017t0002g0010 a0005c0032t0002g0003 a0017c0041t0002g0003 a0020c0025t0002g0129 a0021c0035t0002g0029 a0025c0030t0002g0003 a0027c0033t0002g0006	61	416	0.1466	315	c.218 others(332): Show c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAA GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAGAGTTCGAGGCCAG		GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
GAA_chr17_80096581_80124881	80113808	C C	CAAGAGTT others(308): Show CAAGAGTTCGAGGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAAGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0131 a0005c0006t0002g0131	1	416	0.0024	315	c.218 others(332): Show c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAA GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAGAGTTCGAGGCCAG		GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding	15/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
GABRG3_chr15_26966181_27546984	27113686	T T	TCAGGTAT others(308): Show TCAGGTATTCACTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG06807.hp2 HG01070.hp2 HG01071.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0022 a0001c0001t0001 a0001c0002t0001 a0001c0003t0022	a0001c0001t0001g0077 a0001c0002t0001g0047 a0001c0003t0022g0058 a0001c0001t0001g0077 a0001c0002t0001g0047 a0001c0003t0022g0058	3	92	0.0326	315	c.270 others(334): Show c.270+86880_270+86881insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGGTATTCACTTTT		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27520634	T T	TCCCAAAA others(308): Show TCCCAAAATCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCACGCCCGGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0058 a0001c0003t0022g0058	1	92	0.0109	315	c.865 others(330): Show c.865+521_865+522insTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCACGCCCGGCCCCAAAATCTT		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27520634	T T	TCCCAAAA others(308): Show TCCCAAAATCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02109.hp1 others(6): Show HG01109.hp2 HG01243.hp2 HG02109.hp1 HG02809.hp2 HG03098.hp2 HG03139.hp1 HG03453.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0008 others(1): Show a0001c0004 a0001c0005 a0001c0008 a0001c0009	a0001c0004t0002 a0001c0004t0010 a0001c0005t0002 others(3): Show a0001c0004t0002 a0001c0004t0010 a0001c0005t0002 a0001c0008t0008 a0001c0009t0002 a0001c0009t0010	a0001c0004t0002g0015 a0001c0004t0002g0061 a0001c0004t0010g0075 others(6): Show a0001c0004t0002g0015 a0001c0004t0002g0061 a0001c0004t0010g0075 a0001c0005t0002g0055 a0001c0005t0002g0067 a0001c0008t0008g0001 a0001c0008t0008g0002 a0001c0009t0002g0089 a0001c0009t0010g0051	9	92	0.0978	315	c.865 others(330): Show c.865+521_865+522insTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCCAAAATCTT		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT14_chr2_30905467_31143440	31062724	T T	TTGTTTCA others(308): Show TTGTTTCATGACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19240.hp2 HG02965.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0140 a0001c0001t0001g0014 a0001c0001t0001g0140	2	226	0.0089	315	c.130 others(334): Show c.130-69718_130-69717insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAGTCATGAAACA		GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14						chr2	TogoVar
GALNT9_chr12_132191372_132334589	132240983	C C	CCACACCC others(308): Show CCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACA CCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACCCCC TTCCCAGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCA GGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCAGGGC CCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGCCCTCC CTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	183	0.0055	315	c.107 others(334): Show c.1077+6926_1077+6927insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCC TGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGG TGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGG TGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGT GTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241132	A A	AGGGGCCC others(308): Show AGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGG CCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTC CCTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCA TTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACA CACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACAC GCCACACCCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0172 a0001c0008t0002g0172	1	183	0.0055	315	c.107 others(334): Show c.1077+6777_1077+6778insGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGG GAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCC		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242204	C C	CCCCTTCC others(308): Show CCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCT TCCCGGGGCCTTCCCTATACCCATTACACACACGCCACACCCCCTTCCAG GGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCC CTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGAGCCCTCCC TATACCCATTACACACACACCACACCCCCTTCCAGGGGCCCTCCCTATAC CCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACACCACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02148.hp2 HG02257.hp2 others(1): Show HG02055.hp2 HG02148.hp2 HG02257.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0030 others(1): Show a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0030 a0001c0004t0001g0016	4	183	0.0219	315	c.107 others(334): Show c.1077+5705_1077+5706insTGTGTGGTGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAG GGCCCCTGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCTC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGG GTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGGTGTG TTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242377	G G	GCCACACA others(308): Show GCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCAC ACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACC CTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCC CGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGG CCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTC CCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	183	0.0055	315	c.107 others(334): Show c.1077+5532_1077+5533insTGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGT GTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTT GTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242513	C C	CCACACCC others(308): Show CCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACA CACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCC TTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCC GGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGC CCTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCTTCC CTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	183	0.0055	315	c.107 others(334): Show c.1077+5396_1077+5397insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCC GGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTG TGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGT GTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALR1_chr18_77244848_77282900	77252872	C C	CCATCACC others(308): Show CCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACC ACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCATCACCACC ATCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0025 a0002c0003t0025	a0002c0003t0025g0126 a0002c0003t0025g0126	1	366	0.0027	315	c.666 others(332): Show c.666+1660_666+1661insTCACCACCACCACCACCACCACCACCAC CATCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCATCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252914	C C	CCACCACC others(308): Show CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCATCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	366	0.0027	315	c.666 others(332): Show c.666+1708_666+1709insCCATCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCATCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCATCACCACCATCACCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GAREM1_chr18_32258522_32475882	32379542	T T	TAAAATAC others(308): Show TAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0078 a0003c0010t0002g0078	1	192	0.0052	315	c.262 others(334): Show c.262+13352_262+13353insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTAATTTTTGTATTTT		GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5						chr18	TogoVar
GATB_chr4_151665504_151766007	151678620	A A	AAACAGAG others(308): Show AAACAGAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTCT TTAGCCCAGGCCGGATTGCAGTGGCACAATCTTGGCTCACTGCAAGCTCC GCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACC TTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCAGCC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19057.hp1 NA18948.hp1 NA19057.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0161 a0001c0003t0001g0162	2	320	0.0063	315	c.141 others(334): Show c.1410+1192_1410+1193insGGCTGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGA TCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAA TACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCA GTGAGCCAAGATTGTGCCACTGCAATCCGGCCTGGGCTAAAGAGCGGGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCTCTGTT		GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	11/12						chr4	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(308): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 NA18968.hp1 NA19068.hp1 others(1): Show HG03688.hp2 NA18968.hp1 NA19068.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0023	a0001c0001t0001g0001 a0001c0001t0002g0007 a0001c0001t0005g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0007 a0001c0001t0005g0001 a0001c0001t0023g0001	4	424	0.0094	315	c.-32 others(326): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					3044		chr10	TogoVar
GDPD4_chr11_77211558_77306686	77279525	G G	GTGAACAG others(308): Show GTGAACAGCAGCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTTGCCCAGGCTGGAATGCAGTGGCGCGATCTCGACTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCT GGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01070.hp2 others(21): Show HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG02040.hp2 HG02155.hp1 HG02257.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG03239.hp2 HG03704.hp2 HG04115.hp1 NA18972.hp2 NA18986.hp2 NA18988.hp2 NA19060.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0006 a0001c0001t0004g0150 a0001c0001t0004g0152 others(21): Show a0001c0001t0004g0006 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0015g0151	24	350	0.0686	315	c.54- others(328): Show c.54-127_54-126insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCATTCCAGCCTGGGCAACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAGCTGCTGTTCA		GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	3/16						chr11	TogoVar
GET4_chr7_871554_901436	890019	G G	GGGTCTGG others(308): Show GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGCCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGC GCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTCAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTCAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0272 a0001c0008t0001g0272	1	384	0.0026	315	c.467 others(330): Show c.467-907_467-906insTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTCAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCA GGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGTCT GGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
GHITM_chr10_84134509_84158568	84157913	T T	TCAAGGAT others(308): Show TCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	450	0.0022	315	c.55 others(326): Show c.5565_*5566insCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGC		GHITM	ENSG00000165678.22	transcript	ENST00000372134.6	protein_coding					4346		chr10	TogoVar
GHR_chr5_42418439_42726878	42719833	T T	TGTTGTTT others(308): Show TGTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTTTTAG TAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 NA18939.hp2 NA19006.hp2 HG00423.hp2 NA18939.hp2 NA19006.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0023 a0001c0004t0016g0027 a0001c0004t0016g0028 a0001c0004t0016g0023 a0001c0004t0016g0027 a0001c0004t0016g0028	3	210	0.0143	315	c.41 others(324): Show c.419_*420insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCT CCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCT GGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTTT TAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGTTGTTTCTT		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	10/10				420	INFO_REALIGN_3_PRIME	chr5	TogoVar
GINS1_chr20_25402673_25453563	25446388	T T	TTACAGTG others(308): Show TTACAGTGTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGA GCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 NA19043.hp1 HG02145.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0015 a0001c0001t0010g0014 a0001c0001t0010g0015	2	360	0.0056	315	c.41 others(324): Show c.412_*413insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGC CACCGCGCCCGGCCTACAGTGTGTTTTTT		GINS1	ENSG00000101003.12	transcript	ENST00000262460.5	protein_coding	7/7				413	INFO_REALIGN_3_PRIME	chr20	TogoVar
GNB1_chr1_1780286_1896087	1885905	T T	TAAAACAG others(308): Show TAAAACAGAAAGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	336	0.0030	315	c.-96 others(332): Show c.-96+4914_-96+4915insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGCTTTCTGTTTT		GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11						chr1	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129607	A A	ACATCTTC others(308): Show ACATCTTCTCTTCCTGTTCCTGCATCATCTCCTCCTGCTCTCGTATCTTC TCCTCCTGCTCCCGTATCTTCTTCTCCTGCTCCCTTATCTTCTCCTCCTG CCTCCGCATCTTCTCCTCCTGTTCTTGCATCTTCTCTTCCTGCTCCCCCA TCTTCTCTTCCTGTTCCTGCATCATCTCCTCCTGCTCTCGTATCTTCTCC TCCTGCTCCCGTATCTTCTTCTCCTGCTCCCTTATCTTCTCCTCCTGCCT CCGCATCTTCTCCTCCTGTTCTTGCATCTTCTCTTCCTGCTCCCAAATCT TCTCCTCCTGCTCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03130.hp2 HG03130.hp2	a0041 a0041	a0041c0060 a0041c0060	a0041c0060t0009 a0041c0060t0009	a0041c0060t0009g0103 a0041c0060t0009g0103	1	204	0.0049	315	c.184 others(324): Show c.1845_1846insGGGGAGCAGGAGGAGAAGATTTGGGAGCAGGAAGAG AAGATGCAAGAACAGGAGGAGAAGATGCGGAGGCAGGAGGAGAAGATAAG GGAGCAGGAGAAGAAGATACGGGAGCAGGAGGAGAAGATACGAGAGCAGG AGGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGAGCAGGAAGAGAAG ATGCAAGAACAGGAGGAGAAGATGCGGAGGCAGGAGGAGAAGATAAGGGA GCAGGAGAAGAAGATACGGGAGCAGGAGGAGAAGATACGAGAGCAGGAGG AGATGATGCAGGAACAGGAAGAGAAGATG	p.Met others(328): Show p.Met615_Trp616insGlyGluGlnGluGluLysIleTrpGluGlnGl uGluLysMetGlnGluGlnGluGluLysMetArgArgGlnGluGluLysI leArgGluGlnGluLysLysIleArgGluGlnGluGluLysIleArgGlu GlnGluGluMetMetGlnGluGlnGluGluLysMetGlyGluGlnGluGl uLysMetGlnGluGlnGluGluLysMetArgArgGlnGluGluLysIleA rgGluGlnGluLysLysIleArgGluGlnGluGluLysIleArgGluGln GluGluMetMetGlnGluGlnGluGluLysMet	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1936/3822	1845/2007	615/668			chr15	TogoVar
GPC5_chr13_91393621_92872237	91609017	T T	TAAAATTT others(308): Show TAAAATTTAGATTTGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0020 a0001c0001t0001g0033	2	42	0.0476	315	c.326 others(334): Show c.326-84155_326-84154insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAATTTAGATTTGA		GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92026503	T T	TGAATCAT others(308): Show TGAATCATTAATTATAAGGAAGATAGTTGCTAAAATGGGGATCAGGGTTG ATGCCAGACAAAATTCTATAACAGATTGTAACAAAGGACTTTTGTGTAAT TAACAATGAAAGTAGTGAGCTGAAGTAGGCTAAGTACCCTGTTCTGTTGC TCTGGTGATCTCAGTAAAATCCTACAGGCAGGGCCCTATGCATCAGAATT TAGGCAAGACAAAGCAACTCACTGTATTTTTTGGAATAGATAAGACAATG TAGGCTTGATGATAGATCATTAGGTGAATTGATATGATTAAAAGACTGTG CTCGAAGTTTAATTAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	42	0.0238	315	c.140 others(338): Show c.1402-118316_1402-118315insTATAAGGAAGATAGTTGCTAAA ATGGGGATCAGGGTTGATGCCAGACAAAATTCTATAACAGATTGTAACAA AGGACTTTTGTGTAATTAACAATGAAAGTAGTGAGCTGAAGTAGGCTAAG TACCCTGTTCTGTTGCTCTGGTGATCTCAGTAAAATCCTACAGGCAGGGC CCTATGCATCAGAATTTAGGCAAGACAAAGCAACTCACTGTATTTTTTGG AATAGATAAGACAATGTAGGCTTGATGATAGATCATTAGGTGAATTGATA TGATTAAAAGACTGTGCTCGAAGTTTAATTAAGAATCATTAAT		GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GRHL3_chr1_24314357_24360318	24345043	C C	CCCTCCAC others(308): Show CCCTCCACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCC CCCTCCACACCTGTGCCCCCTCCATACCTGTGCCCCCTCTACACCTGTGC CCCTCCACACCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGTGCC CCTCCACACCTGTGCCCCCTCTACACCTGTGTCCCTCCACACCTGTGCCC CCTTTACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCC CCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCC CCTCCACACCTGTGCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01261.hp1 others(2): Show HG00140.hp1 HG00741.hp2 HG01261.hp1 HG01261.hp2 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0005 a0001c0003 a0002c0004 a0002c0005	a0001c0003t0001 a0002c0004t0001 a0002c0005t0001 a0001c0003t0001 a0002c0004t0001 a0002c0005t0001	a0001c0003t0001g0104 a0002c0004t0001g0108 a0002c0005t0001g0270 others(2): Show a0001c0003t0001g0104 a0002c0004t0001g0108 a0002c0005t0001g0270 a0002c0005t0001g0278 a0002c0005t0001g0294	5	372	0.0134	315	c.145 others(332): Show c.1454+149_1454+150insCACACCTGTGCCCCCTCCACACCTGTGC CCCCTCCATACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGC CCCCTCCACACCTGTGCACCTCCACACCTGTGCCCCTCCACACCTGTGCC CCCTCTACACCTGTGTCCCTCCACACCTGTGCCCCCTTTACACCTGTGCC CCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCCTCCACACCTGTGCC CCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCA CCTCCACACCTGTGCCCCTCCACACCTGTGCCCCCTC		GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
GRHL3_chr1_24314357_24360318	24345043	C C	CCCTCCAC others(308): Show CCCTCCACACCTGTGCCCCTCCACACCTGTGTCCCCTCCACAACTGTGCC CCCTCCACACCTGTGCCCCCTCCATACCTGTGCCCCCTCTACACCTGTGC CCCTCCACACCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGTGCC CCTCCACACCTGTGCCCCCTCTACACCTGTGTCCCTCCACACCTGTGCCC CCTTTACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCC CCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCC CCTCCACACCTGTGCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02451.hp2 others(11): Show HG02055.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03579.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0001 a0001c0002t0001 a0001c0018t0009 a0001c0001t0001 a0001c0002t0001 a0001c0018t0009	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0042 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0002t0001g0034 a0001c0002t0001g0057 a0001c0002t0001g0248 a0001c0002t0001g0251 a0001c0018t0009g0056	14	372	0.0376	315	c.145 others(332): Show c.1454+142_1454+143insTCCCCTCCACAACTGTGCCCCCTCCACA CCTGTGCCCCCTCCATACCTGTGCCCCCTCTACACCTGTGCCCCTCCACA CCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGTGCCCCTCCACAC CTGTGCCCCCTCTACACCTGTGTCCCTCCACACCTGTGCCCCCTTTACAC CTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCCTCCACAC CTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACAC CTGTGCACCTCCACACCTGTGCCCCTCCACACCTGTG		GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
GRHL3_chr1_24314357_24360318	24345043	C C	CCCTCCAC others(308): Show CCCTCCACACCTGTGCCCCTCCACACCTGTGTCCCCTCCACACCTGTGCC CCCTCCACACCTGTGCCCCCTCCATACCTGTGCCCCCTCTACACCTGTGC CCCTCCACACCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGTGCC CCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCC CCTTTACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCC CCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCC CCTCCACACCTGTGCA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	372	0.0027	315	c.145 others(332): Show c.1454+142_1454+143insTCCCCTCCACACCTGTGCCCCCTCCACA CCTGTGCCCCCTCCATACCTGTGCCCCCTCTACACCTGTGCCCCTCCACA CCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGTGCCCCTCCACAC CTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTTTACAC CTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCCTCCACAC CTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACAC CTGTGCACCTCCACACCTGTGCCCCTCCACACCTGTG		GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
GRHL3_chr1_24314357_24360318	24345043	C C	CCCTCCAC others(308): Show CCCTCCACACCTGTGCCCCTCCACACCTGTGTCCCCTCCACACCTGTGCC CCCTCCACACCTGTGCCCCCTCCATACCTGTGCCCCCTCTACACCTGTGC CCCTCCACACCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGTGCC CCTCCACACCTGTGCCCCCTCTACACCTGTGTCCCTCCACACCTGTGCCC CCTTTACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCC CCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCC CCTCCACACCTGTGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(135): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0009 a0011	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0002c0004 a0002c0005 a0002c0020 a0005c0009 a0007c0015 a0008c0011 a0009c0021 a0011c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0014t0001 a0002c0004t0001 a0002c0004t0005 a0002c0005t0001 a0002c0020t0001 a0005c0009t0001 a0007c0015t0001 a0008c0011t0001 a0009c0021t0001 a0011c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(113): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0002g0144 a0001c0001t0005g0031 a0001c0001t0013g0212 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0225 a0001c0002t0001g0231 a0001c0002t0001g0234 a0001c0002t0001g0283 a0001c0002t0001g0314 a0001c0003t0001g0045 a0001c0003t0001g0055 a0001c0003t0001g0065 a0001c0003t0001g0103 a0001c0003t0001g0121 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0140 a0001c0003t0001g0155 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0179 a0001c0003t0001g0185 a0001c0003t0001g0198 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0313 a0001c0003t0001g0316 a0001c0003t0002g0015 a0001c0003t0002g0077 a0001c0003t0002g0191 a0001c0003t0008g0263 a0001c0014t0001g0002 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0282 a0002c0004t0001g0291 a0002c0004t0005g0064 a0002c0005t0001g0029 a0002c0005t0001g0035 a0002c0005t0001g0105 a0002c0005t0001g0106 a0002c0005t0001g0111 a0002c0005t0001g0268 a0002c0005t0001g0269 a0002c0005t0001g0279 a0002c0005t0001g0280 a0002c0005t0001g0285 a0002c0005t0001g0295 a0002c0005t0001g0298 a0002c0020t0001g0276 a0005c0009t0001g0001 a0007c0015t0001g0204 a0008c0011t0001g0211 a0009c0021t0001g0281 a0011c0023t0001g0107	138	372	0.3710	315	c.145 others(332): Show c.1454+142_1454+143insTCCCCTCCACACCTGTGCCCCCTCCACA CCTGTGCCCCCTCCATACCTGTGCCCCCTCTACACCTGTGCCCCTCCACA CCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGTGCCCCTCCACAC CTGTGCCCCCTCTACACCTGTGTCCCTCCACACCTGTGCCCCCTTTACAC CTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCCTCCACAC CTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACAC CTGTGCACCTCCACACCTGTGCCCCTCCACACCTGTG		GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
GRIP1_chr12_66342431_66684076	66512565	T T	TGAAAAAC others(308): Show TGAAAAACAGATGACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0031 a0001c0001t0003g0113 a0001c0001t0004g0133 a0001c0001t0002g0031 a0001c0001t0003g0113 a0001c0001t0004g0133	3	224	0.0134	315	c.724 others(332): Show c.724+3053_724+3054insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTAGTCATCTGTTTTTC		GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	7/24						chr12	TogoVar
GRIP1_chr12_66342431_66684076	66512565	T T	TGAAAAAC others(308): Show TGAAAAACAGATGACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01109.hp1 others(6): Show HG00140.hp1 HG01081.hp1 HG01109.hp1 HG01515.hp2 HG02523.hp2 HG04199.hp1 NA18990.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0060 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0144 a0001c0001t0001g0186 a0001c0001t0001g0217 a0001c0001t0002g0073 a0001c0001t0002g0206	9	224	0.0402	315	c.724 others(332): Show c.724+3053_724+3054insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTAGTCATCTGTTTTTC		GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	7/24						chr12	TogoVar
GRM5_chr11_88499642_89070982	88506963	T T	TAAGGCTG others(308): Show TAAGGCTGGGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0031 a0001c0002t0028g0031	1	184	0.0054	315	c.16 others(326): Show c.1628_*1629insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGACCCAGCCTT		GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	10/10				1628		chr11	TogoVar
GSAP_chr7_77305751_77421349	77351448	T T	TAAGAGAA others(308): Show TAAGAGAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGATATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTACAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0054 a0002c0003t0002g0054	1	352	0.0028	315	c.149 others(334): Show c.1491+1495_1491+1496insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTGTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATATCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTATTTTTCTCTT		GSAP	ENSG00000186088.16	transcript	ENST00000257626.12	protein_coding	18/30						chr7	TogoVar
GSE1_chr16_85608322_85681200	85653242	T T	TCCCCCCT others(308): Show TCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCT CCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCT CCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCC TCCCCCTCCTCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0274 a0001c0002t0005g0274	1	290	0.0035	315	c.427 others(332): Show c.427-1034_427-1033insCCCCTCCTCCCCCCTCCTCCCCCCCTCC TCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCC CCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCC CCCCTCCTCCCCCCCCTCCTCCCCCTCCTCCCCCCCTCCCCCCTCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GSN_chr9_121263162_121337842	121277653	T T	TAAAATAC others(308): Show TAAAATACTTTGCTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0046 a0002c0015t0001g0046	1	322	0.0031	315	c.-10 others(334): Show c.-102-3801_-102-3800insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAATACTTTGCTGCT		GSN	ENSG00000148180.22	transcript	ENST00000432226.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr9	TogoVar
GTF2E2_chr8_30573318_30663236	30583976	T T	TTTGTATT others(308): Show TTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCACCCGGCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03225.hp1 HG03453.hp1 HG00738.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154	3	378	0.0079	315	c.644 others(332): Show c.644-3581_644-3580insGGCCGGGTGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAA		GTF2E2	ENSG00000197265.9	transcript	ENST00000355904.9	protein_coding	6/7						chr8	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(308): Show AGGAAGGGAAGGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGA GGAGGGTGGAGGGAAGGGGGAGGGGGGAGGGAGGAGGGAAGGGGGAGGGG GGAGGGGGAAGGGAAGGGAGGGAAGGGAAGGGTGGGGGGGGAGGGGGAGC GGAAGGGAAGGGTCAGAGAGGAGGGGGAGGGGGAGGGAGAGAGGGAGGAG AGAGGGAGGGGAAAGGGAGGGGAAGGGAAGGGTGAGAAGGGAAGGGGAGG GGAGGGGTGGGGAAAAGGGAGGGGAAGGGCAGGGGAAGGGGAGGGGAAGG GCAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp2 HG03942.hp1 others(4): Show HG00140.hp1 HG01109.hp2 HG03942.hp1 NA18747.hp1 NA18951.hp2 NA18953.hp1 NA19064.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0007 others(1): Show a0001c0004 a0001c0006 a0001c0007 a0001c0012	a0001c0004t0002 a0001c0006t0005 a0001c0006t0025 others(2): Show a0001c0004t0002 a0001c0006t0005 a0001c0006t0025 a0001c0007t0005 a0001c0012t0003	a0001c0004t0002g0211 a0001c0006t0005g0203 a0001c0006t0005g0213 others(4): Show a0001c0004t0002g0211 a0001c0006t0005g0203 a0001c0006t0005g0213 a0001c0006t0025g0209 a0001c0007t0005g0018 a0001c0007t0005g0025 a0001c0012t0003g0207	7	256	0.0273	315	c.169 others(336): Show c.1693-11006_1693-11005insCCTCCCCTTCCCCTGCCCTTCCCC TCCCCTTCCCCTGCCCTTCCCCTCCCTTTTCCCCACCCCTCCCCTCCCCT TCCCTTCTCACCCTTCCCTTCCCCTCCCTTTCCCCTCCCTCTCTCCTCCC TCTCTCCCTCCCCCTCCCCCTCCTCTCTGACCCTTCCCTTCCGCTCCCCC TCCCCCCCCACCCTTCCCTTCCCTCCCTTCCCTTCCCCCTCCCCCCTCCC CCTTCCCTCCTCCCTCCCCCCTCCCCCTTCCCTCCACCCTCCTCCCTCCC CCTTCCCTCCTCCCCCCTCCCTCACCCTCCCCTTCCCTTCC		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7						chr11	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(308): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02886.hp2 others(8): Show HG02145.hp2 HG02572.hp1 HG02886.hp2 HG03579.hp1 NA18747.hp1 NA18959.hp1 NA18960.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0033 a0001c0001t0001g0155 a0001c0001t0001g0156 others(8): Show a0001c0001t0001g0033 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154	11	428	0.0257	315	c.187 others(332): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAACAAAGATTATGATCC		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16						chr3	TogoVar
HCN1_chr5_45249948_45701380	45257948	C C	CAGTATGA others(308): Show CAGTATGAGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0009 a0001c0001t0031g0009	1	226	0.0044	315	c.39 others(326): Show c.3972_*3973insAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGTACTCATACT		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	8/8				3972		chr5	TogoVar

Search by Variant

Search

Search Results