Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
C11orf16_chr11_8915076_8937947	8936601	G G	GCCGGCTA others(188): Show GCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02976.hp1 HG01109.hp2 HG02976.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0028 a0007c0007t0001g0028	2	405	0.0049	195	c.-37 others(206): Show c.-3720_-3719insGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAA AAATTAGCCGG		C11orf16	ENSG00000176029.14	transcript	ENST00000326053.10	protein_coding					3655		chr11	TogoVar
C1QTNF12_chr1_1237453_1251722	1249603	G G	GGGACACG others(188): Show GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG AGGCTGGGCCTCCCACTCGCCCTACAGGCCGGGACAACGGCAGCCCTGGG AGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	326	0.0031	195	c.-29 others(206): Show c.-2914_-2913insGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCC TCGGTCCAGCCTCCCAGGGCTGCCGTTGTCCCGGCCTGTAGGGCGAGTGG GAGGCCCAGCCTCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCC TGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGC TGCCCGTGTCC		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding					2882		chr1	TogoVar
C2CD4C_chr19_400445_414147	404444	G G	GAGGGGGG others(188): Show GAGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCC TGCCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTG GAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGATGGGGTCCT GCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCTTGAGGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01071.hp1 others(1): Show HG00140.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0001t0103 a0001c0002t0012 a0001c0001t0026 a0001c0001t0103 a0001c0002t0012	a0001c0001t0026g0028 a0001c0001t0103g0083 a0001c0002t0012g0025 a0001c0001t0026g0028 a0001c0001t0103g0083 a0001c0002t0012g0025	4	311	0.0129	195	c.26 others(206): Show c.2651_*2652insACACCCCTCAAGGCAGGACCCCGTACCCCCTCAG ACCCCTCAGGGCAGGACCCCATCCCCCCCCACACCCCTCAGGGCAGGACC CCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCTCCACA CCCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCTCAGGGCAGGACCC CGTCCCCCCCT		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1000		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTC others(188): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT CTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTCTCTCT CTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0010 a0010	a0010c0128 a0010c0128	a0010c0128t0001 a0010c0128t0001	a0010c0128t0001g0139 a0010c0128t0001g0139	1	90	0.0111	195	c.573 others(214): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(188): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTT CTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCT CTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02602.hp2 HG03669.hp1 HG01261.hp2 HG02602.hp2 HG03669.hp1	a0002 a0009 a0013 a0002 a0009 a0013	a0002c0114 a0009c0014 a0013c0048 a0002c0114 a0009c0014 a0013c0048	a0002c0114t0002 a0009c0014t0002 a0013c0048t0001 a0002c0114t0002 a0009c0014t0002 a0013c0048t0001	a0002c0114t0002g0189 a0009c0014t0002g0195 a0013c0048t0001g0140 a0002c0114t0002g0189 a0009c0014t0002g0195 a0013c0048t0001g0140	3	92	0.0326	195	c.573 others(214): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAAGAAAAGAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46						chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(188): Show ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0301 a0001c0001t0021g0301	1	103	0.0097	195	c.300 others(212): Show c.300-9309_300-9308insCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGCATGTGTAGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(188): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02040.hp2 HG03688.hp2 others(1): Show HG01361.hp2 HG02040.hp2 HG03688.hp2 NA18995.hp1	a0009 a0010 a0011 a0009 a0010 a0011	a0009c0073 a0010c0020 a0011c0038 a0009c0073 a0010c0020 a0011c0038	a0009c0073t0012 a0010c0020t0012 a0011c0038t0001 others(1): Show a0009c0073t0012 a0010c0020t0012 a0011c0038t0001 a0011c0038t0002	a0009c0073t0012g0106 a0010c0020t0012g0335 a0011c0038t0001g0298 others(1): Show a0009c0073t0012g0106 a0010c0020t0012g0335 a0011c0038t0001g0298 a0011c0038t0002g0162	4	106	0.0377	195	c.300 others(212): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGCATGTGTAGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(188): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0169 a0001c0001t0031g0169	1	9	0.1111	195	c.565 others(212): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGC		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10						chr10	TogoVar
CAMK4_chr5_111219384_111499886	111450625	T T	TAAAAATA others(188): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAG CTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG00738.hp2 others(27): Show HG00558.hp1 HG00735.hp2 HG00738.hp2 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01496.hp2 HG02015.hp1 HG02148.hp1 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02647.hp1 HG02723.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG03710.hp1 HG03927.hp2 HG04204.hp2 HG06807.hp2 NA18945.hp1 NA18977.hp1 NA19065.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0030 a0001c0001t0035 a0001c0001t0040 a0001c0001t0062 a0001c0001t0067 a0001c0001t0081 a0001c0001t0086 a0001c0001t0090 a0001c0001t0097 a0001c0001t0098 a0001c0001t0110 a0001c0001t0117 a0001c0001t0122 a0002c0003t0027 a0002c0003t0057 a0002c0003t0070	a0001c0001t0001g0137 a0001c0001t0002g0014 a0001c0001t0002g0194 others(27): Show a0001c0001t0001g0137 a0001c0001t0002g0014 a0001c0001t0002g0194 a0001c0001t0003g0205 a0001c0001t0007g0155 a0001c0001t0007g0243 a0001c0001t0010g0218 a0001c0001t0011g0080 a0001c0001t0012g0225 a0001c0001t0015g0055 a0001c0001t0018g0175 a0001c0001t0019g0161 a0001c0001t0020g0230 a0001c0001t0030g0160 a0001c0001t0035g0022 a0001c0001t0040g0228 a0001c0001t0062g0185 a0001c0001t0067g0179 a0001c0001t0081g0084 a0001c0001t0086g0098 a0001c0001t0090g0132 a0001c0001t0097g0241 a0001c0001t0098g0020 a0001c0001t0110g0101 a0001c0001t0117g0021 a0001c0001t0122g0067 a0002c0003t0027g0058 a0002c0003t0027g0060 a0002c0003t0057g0232 a0002c0003t0070g0048	30	179	0.1676	195	c.625 others(212): Show c.625+1428_625+1429insACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAT		CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK1_chr17_3855315_3898053	3868032	G G	GTCTAACT others(188): Show GTCTAACTGATACGTGGGCACGGGGGAGATGCAGGCACCGTCTAACTGAT ACGCGGGATCTGGGGGAGACGCAGGCCCATCTAACTGATACGCGGGATCT GGGGGAGACGCAGGCCCATCTAACTGATACGCGGGATCTGGGGGAGACGC AGGCCCATCTAACTGATACGCGGGATCTGGGGGAGACGCAGGCCCA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19054.hp2 NA19055.hp2 NA18944.hp2 NA19054.hp2 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0011 a0002c0001t0011 a0002c0001t0018 a0001c0002t0011 a0002c0001t0011 a0002c0001t0018	a0001c0002t0011g0242 a0002c0001t0011g0260 a0002c0001t0018g0119 a0001c0002t0011g0242 a0002c0001t0011g0260 a0002c0001t0018g0119	3	443	0.0068	195	c.134 others(214): Show c.1341+1454_1341+1455insTGGGCCTGCGTCTCCCCCAGATCCCG CGTATCAGTTAGATGGGCCTGCGTCTCCCCCAGATCCCGCGTATCAGTTA GATGGGCCTGCGTCTCCCCCAGATCCCGCGTATCAGTTAGATGGGCCTGC GTCTCCCCCAGATCCCGCGTATCAGTTAGACGGTGCCTGCATCTCCCCCG TGCCCACGTATCAGTTAGA		CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15						chr17	TogoVar
CAPN12_chr19_38725192_38749474	38735883	G G	GGGGGTTC others(188): Show GGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTG GGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGC GGGGCGGGGGTTCTGGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGC GGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGCGGTGGTTCTGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0043 a0001c0001t0012g0043	1	282	0.0035	195	c.158 others(212): Show c.1583+226_1583+227insGCAGAACCACCGCCCCGCCCCGCCCCGC CCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCGCAGAACCACCGCCCCGC CCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCA GAACCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAGAACCCCCGC CCCGCCCCCAGAACCCC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735908	G G	GGGGCGGG others(188): Show GGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGCGGGGCG GGGCGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGG CGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCGG GGCGGGCGGGGCGGGGCGGGGCGGGCGGGGCGGGGCGGGGCGGGCG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0024 a0003c0005t0004g0024	1	319	0.0031	195	c.158 others(212): Show c.1583+201_1583+202insCGCCCGCCCCGCCCCGCCCCGCCCGCCC CGCCCCGCCCCGCCCGCCCCGCCCCGCCCGCCCCGCCCCGCCCCGCCCGC CCCGCCCCGCCCCGCCCGCCCCGCCCCGCCCCGCCCGCCCCGCCCCGCCC CGCCCGCCCCGCCCGCCCCGCCCCGCCCGCCCCGCCCCGCCCCGCCCCCA GAACCCCCGCCCCGCCC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20						chr19	TogoVar
CAPN15_chr16_522712_559636	544693	C C	CCTCCCCC others(188): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0273 a0004c0018t0001g0273	1	407	0.0025	195	c.-22 others(212): Show c.-22-2109_-22-2108insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GTCTCCCCCACGTCGCC		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(188): Show AAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGG AAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0140 a0005c0011t0001g0140	1	282	0.0035	195	c.234 others(212): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCTTCTTCTTCTTCT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10						chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGGG others(188): Show AAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAG GAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	282	0.0035	195	c.234 others(212): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCCCCTTCT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10						chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91610670	G G	GTTGAACC others(188): Show GTTGAACCCTGGAAATAACCAAATAAATGAAGGTTATTTAAAGTAACTGT TATGGACTGAACTGTGTCCAACCAAAAATCACATGTTGAAACCCCAACCT CCAGTATCTCAAAATGTGGCTGTATTTGGAGATAGGGCCTTTAAGGAGGT AATTAAGGTAAAATGAGGTCATTTGGGTGGGCCCCAATCCAGTGTC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0048 a0004c0008t0001g0048	1	270	0.0037	195	c.240 others(208): Show c.2401-188_2407dupGACACTGGATTGGGGCCCACCCAAATGACCTC ATTTTACCTTAATTACCTCCTTAAAGGCCCTATCTCCAAATACAGCCACA TTTTGAGATACTGGAGGTTGGGGTTTCAACATGTGATTTTTGGTTGGACA CAGTTCAGTCCATAACAGTTACTTTAAATAACCTTCATTTATTTGGTTAT TTCCAGGGTTCAA	p.Ser others(208): Show p.Ser802_Thr803insArgHisTrpIleGlyAlaHisProAsnAspLe uIleLeuProTerLeuProProTerArgProTyrLeuGlnIleGlnProH isPheGluIleLeuGluValGlyValSerThrCysAspPheTrpLeuAsp ThrValGlnSerIleThrValThrLeuAsnAsnLeuHisLeuPheGlyTy rPheGlnGlySer	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	21/27	2564/3699	2407/3351	803/1116			chr14	TogoVar
CCN4_chr8_133186039_133236690	133213977	A A	ATATAGTT others(188): Show ATATAGTTATATATACTATATATACACTATATATAGTATATATACTATAT ATAACTATATATAGTGTATATATACTATATATAACTATATATAGTATATA TACTATATATACACTATATATAGTATATATACTATATATACACTATATAT AGTAGTTATATATACTATATATACACTATATATAGTATATATACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	394	0.0025	195	c.349 others(210): Show c.349+840_349+841insTATATATACTATATATACACTATATATAGT ATATATACTATATATAACTATATATAGTGTATATATACTATATATAACTA TATATAGTATATATACTATATATACACTATATATAGTATATATACTATAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA TATATACACTATAGT		CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC40_chr6_110175427_110237232	110185397	T T	TACGCCCG others(188): Show TACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTG GCGCGATCTCGTCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0185 a0001c0001t0005g0185	1	322	0.0031	195	c.189 others(212): Show c.189+4790_189+4791insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGGGCAGTGGCGCG ATCTCGTCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGC TAATTTTTTGTATTTTT		CDC40	ENSG00000168438.15	transcript	ENST00000307731.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDH23_chr10_71391920_71820947	71688885	G G	GGGTGGTG others(188): Show GGGTGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTG GTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGGTAGAGGA GTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAG GGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03209.hp2 HG01433.hp2 HG03209.hp2	a0001 a0029 a0001 a0029	a0001c0096 a0029c0148 a0001c0096 a0029c0148	a0001c0096t0001 a0029c0148t0003 a0001c0096t0001 a0029c0148t0003	a0001c0096t0001g0193 a0029c0148t0003g0187 a0001c0096t0001g0193 a0029c0148t0003g0187	2	134	0.0149	195	c.205 others(214): Show c.2059+1182_2059+1183insGTGGTGGAGCCAGGGGTGGTGGAGTC AGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGG TAGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTG GAGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCC AGAGGTGGTGGAGCCAGGG		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69					INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH4_chr20_61247261_61945617	61659591	C C	CCATCCGA others(188): Show CCATCCGAGGCTTGGAGGCAGGAGGAGGGTGGGCCTCAGCCATCTGAGGC TTGGAGGCAGGAGGAGGGTAGGCCTCAGCCATCTGAGGCTTGGAGGCAGG AGGAGGGTGGGCCTCAGGCATCCGAGGCTTGGAGGCAGGAGGAGGGTGGG CCTCAGGCATCCGAGGCTTGGAGGCAGGAGGAGGGTGGGCCTCAGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	105	0.0095	195	c.170 others(214): Show c.170-83968_170-83967insCGAGGCTTGGAGGCAGGAGGAGGGTG GGCCTCAGCCATCTGAGGCTTGGAGGCAGGAGGAGGGTAGGCCTCAGCCA TCTGAGGCTTGGAGGCAGGAGGAGGGTGGGCCTCAGGCATCCGAGGCTTG GAGGCAGGAGGAGGGTGGGCCTCAGGCATCCGAGGCTTGGAGGCAGGAGG AGGGTGGGCCTCAGGCATC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP72_chr5_607340_658553	650256	T T	TGACTGTG others(188): Show TGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGCGTGACTGTGAG GCGTGACTGTGAGGCGTGACTGTGAGGTGTGGACTGTGAGGTGGGACTGT GAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTG TGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGAGGCGTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03688.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0076 others(1): Show a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0076 a0005c0007t0001g0074	4	89	0.0449	195	c.177 others(214): Show c.1778+2350_1778+2351insTGTGACTGTGAGGTGTGGACTGTGAG GCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGTGTGGACTGT GAGGTGGGACTGTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGAC TGAGGCGTGGACTGTGAGG		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132887898	T T	TTCACCTC others(188): Show TTCACCTCTCTCTCTCCTCTCCTCTCTCTCTCCTCTCCTCTCTCTCTCCG CTCCTCTCTCTCTCCTCTCCCCTCTTCTCTCTCTCCTCTCCCCTCTTCTC TCCTCTCCCTTCTTCTCTCTCCTCTCCTCTCCCCTCTTCTCTCCTCTCCC CTCTTCTCTCCTCTCCCCTCTTCTCTCCTCTCCCTTCTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp2 HG02145.hp1 HG03195.hp2	a0023 a0045 a0023 a0045	a0023c0099 a0045c0107 a0023c0099 a0045c0107	a0023c0099t0002 a0045c0107t0002 a0023c0099t0002 a0045c0107t0002	a0023c0099t0002g0017 a0045c0107t0002g0103 a0023c0099t0002g0017 a0045c0107t0002g0103	2	243	0.0082	195	c.330 others(214): Show c.3305-1940_3305-1939insGAGAGAGAAGAAGGGAGAGGAGAGAA GAGGGGAGAGGAGAGAAGAGGGGAGAGGAGAGAAGAGGGGAGAGGAGAGG AGAGAGAAGAAGGGAGAGGAGAGAAGAGGGGAGAGGAGAGAGAGAAGAGG GGAGAGGAGAGAGAGAGGAGCGGAGAGAGAGAGGAGAGGAGAGAGAGAGG AGAGGAGAGAGAGAGGTGA		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57						chr10	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(188): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTTTACGGTCCC CGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGT GACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	376	0.0027	195	c.172 others(212): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGTTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGC TTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCC GCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTG ACGGCGCGTCCCCGTGC		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3						chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198668	T T	TGAGGGGT others(188): Show TGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGAC AGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCC GTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGT CCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp1 HG03139.hp2 others(3): Show HG02630.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0116 a0001c0001t0001g0122 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0140 a0001c0001t0001g0146	6	353	0.0170	195	c.172 others(212): Show c.172-1653_172-1652insGGTGACGGCGCGTCCCCGTGGGTACGGT CCCCACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGG CGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGC GTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGG TACGGTCCCCGCCGAGG		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198668	T T	TGAGGGGT others(188): Show TGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGAC GGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCC GTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGT CCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG03579.hp2 HG02258.hp1 HG03139.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	3	350	0.0086	195	c.172 others(212): Show c.172-1653_172-1652insGGTGACGGCGCGTCCCCGTGGGTACGGT CCCCACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGG CGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGC GTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGG TACGGTCCCCGCCGAGG		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198733	G G	GTACGGTC others(188): Show GTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTG ACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCC CCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04199.hp2 HG02698.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0213 a0001c0001t0001g0200 a0001c0001t0001g0213	2	332	0.0060	195	c.172 others(212): Show c.172-1589_172-1588insGGTCCCCGCTGAGGCGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTAC GGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTG AGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCTTAC		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199063	C C	CGTGACGG others(188): Show CGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCG TACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	268	0.0037	195	c.172 others(212): Show c.172-1243_172-1242insCGTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTG CGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGT GACGGCGCGTCCCCGTG		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199084	G G	GTACGGTC others(188): Show GTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTG ACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03490.hp2 HG03492.hp1 others(6): Show HG00673.hp1 HG03490.hp2 HG03492.hp1 NA18612.hp1 NA18953.hp1 NA19001.hp1 NA19004.hp1 NA19058.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0035 a0001c0001t0004g0252 others(4): Show a0001c0001t0004g0032 a0001c0001t0004g0035 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0259 a0001c0001t0004g0261	9	342	0.0263	195	c.172 others(212): Show c.172-1224_172-1223insGGTGACGGCGCGTCCCCGTGCTTACGGT CCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGG GGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCT TACGGTCCCCGCTGAGG		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199385	C C	CGTCCCCG others(188): Show CGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGT GTTCGGTCCCCGCTGAGGGGTGACGGCGTGTCCCCGTGTGTACGGTCCCC GCTGAGGCGTGACAGCGTGTCCCCGTGGGTACGGTCCCCGCTGAGGGGTG ACAGTGGGTCCCTGTGTGTTCGGTCCCCGCTGAGGCGTGACAGCGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG02135.hp2 others(7): Show HG00544.hp1 HG00558.hp1 HG02135.hp2 NA18947.hp2 NA18986.hp2 NA18987.hp1 NA19066.hp2 NA19068.hp1 NA19075.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 others(5): Show a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0264 a0001c0001t0011g0025	10	327	0.0306	195	c.172 others(210): Show c.172-931_172-930insCTTACGGTCCCCGCTGAGGGGTGACAGTGG GTCCCTGTGTGTTCGGTCCCCGCTGAGGGGTGACGGCGTGTCCCCGTGTG TACGGTCCCCGCTGAGGCGTGACAGCGTGTCCCCGTGGGTACGGTCCCCG CTGAGGGGTGACAGTGGGTCCCTGTGTGTTCGGTCCCCGCTGAGGCGTGA CAGCGTGTCCCCGTG		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199643	C C	CGAGGCGT others(188): Show CGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCCGAGGCGTGAC GGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCC GTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGT CCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	79	0.0127	195	c.172 others(210): Show c.172-658_172-657insTGTACGGTCCCCGCCGAGGCGTGACGGCGC GTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCG TACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGA CGGCGCGTCCCCGTG		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114200100	A A	ACGGTCCC others(188): Show ACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGC TGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGAC GGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCT GTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19000.hp1 NA19090.hp1 NA18977.hp1 NA19000.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0169 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0169	3	319	0.0094	195	c.172 others(210): Show c.172-210_172-209insGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCG TGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGT CCCTGTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTT CGGTCCCCGCTGAGG		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(188): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAG GGGAGGGGAGGAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGAGGGGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp2 HG02896.hp2 others(1): Show HG02055.hp2 HG02622.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0139	4	5	0.8000	195	c.319 others(212): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCC CCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTC CCCTCCTCTCCTCTCCT		CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14						chr22	TogoVar
CHSY1_chr15_101170727_101257048	101223530	T T	TACTTCCA others(188): Show TACTTCCACACTGGGACTCAGGCCTCGTCTACTACAGAGGACTTCCACAC TGGGACTCAGGCCTCGTCTACTACAGAGGACTTCCACACTGGGACTCAGG CCTCGTCTACTACAGAGGACTTCCACACTGGGACTCAGGCCTCGTCTACT ACAGAGGACTTCCACACTGGGACTCAGGCCTCGTCTACTACAGAGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03540.hp1 HG03516.hp1 HG03540.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0030 a0002c0020t0064 a0002c0020t0030 a0002c0020t0064	a0002c0020t0030g0365 a0002c0020t0064g0375 a0002c0020t0030g0365 a0002c0020t0064g0375	2	353	0.0057	195	c.816 others(214): Show c.816+11357_816+11551dupCCTCTGTAGTAGACGAGGCCTGAGTC CCAGTGTGGAAGTCCTCTGTAGTAGACGAGGCCTGAGTCCCAGTGTGGAA GTCCTCTGTAGTAGACGAGGCCTGAGTCCCAGTGTGGAAGTCCTCTGTAG TAGACGAGGCCTGAGTCCCAGTGTGGAAGTCCTCTGTAGTAGACGAGGCC TGAGTCCCAGTGTGGAAGT		CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2						chr15	TogoVar
CLDN8_chr21_30209006_30221097	30210361	T T	TATATATA others(188): Show TATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTACATAT ATATATATATATATATATATATATATATATATATAGTCTCCCTAATTGTA ATTCAAGGTACGTATGTATATATATATATATATATATATATATATATATA TATATATATATATGTATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	462	0.0022	195	c.48 others(206): Show c.4886_*4887insGTACCTTGAATTAGAATTAGGGAGACTATATACA TATATATATATATATATATATATATATATATATATATATATATATACATA CGTACCTTGAATTACAATTAGGGAGACTATATATATATATATATATATAT ATATATATATATATATGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3644		chr21	TogoVar
CMIP_chr16_81439808_81716762	81577438	A A	AACCATCA others(188): Show AACCATCACCTTCATCACCACCATCATCCCCATTACCACTATATTATTAT CACTATCACCATCATCACCATCACCTTCATCACCACCATCATCCCCATTA CAACTATATTATTATCACTATCACCATCATCACCATCACCTTCATCACCA CCATCATCCCCATTACCACTATATTATTATCACTATCACCATCATC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	265	0.0038	195	c.301 others(214): Show c.301-29959_301-29958insTATTATTATCACTATCACCATCATCA CCATCACCTTCATCACCACCATCATCCCCATTACCACTATATTATTATCA CTATCACCATCATCACCATCACCTTCATCACCACCATCATCCCCATTACA ACTATATTATTATCACTATCACCATCATCACCATCACCTTCATCACCACC ATCATCCCCATTACCACTA		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133778	T T	TCTCTCCA others(188): Show TCTCTCCACCTCCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	202	0.0050	195	c.-42 others(206): Show c.-4266_-4265insCTCTCCACCTCCCCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCC		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3983		chr19	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAAGAAA others(188): Show GAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA GAAAAAAAAGAAAGAAAAGAAAGAAAGAGGGAAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0179 a0003c0003t0004g0179	1	29	0.0345	195	c.-46 others(214): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTTCTTTCTTT		CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1						chr1	TogoVar
COL17A1_chr10_104026286_104090880	104057439	T T	TAAAAGAT others(188): Show TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	90	0.0111	195	c.126 others(212): Show c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCC GAAGGAGGCAATCTTTT		COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	16/55						chr10	TogoVar
COL17A1_chr10_104026286_104090880	104057439	T T	TAAAAGAT others(188): Show TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(194): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19076.hp2 NA19079.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0003 a0004 others(16): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009 a0013 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026	a0001c0001 a0001c0006 a0001c0014 others(30): Show a0001c0001 a0001c0006 a0001c0014 a0001c0025 a0001c0027 a0001c0048 a0001c0051 a0001c0056 a0001c0059 a0003c0003 a0003c0057 a0004c0004 a0004c0009 a0005c0005 a0005c0015 a0005c0037 a0007c0011 a0007c0039 a0008c0013 a0008c0017 a0009c0012 a0013c0022 a0015c0026 a0016c0034 a0017c0047 a0018c0055 a0019c0046 a0020c0058 a0021c0050 a0023c0045 a0024c0031 a0025c0054 a0026c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0014t0001 a0001c0025t0006 a0001c0027t0004 a0001c0048t0001 a0001c0051t0001 a0001c0056t0001 a0001c0059t0001 a0003c0003t0001 a0003c0003t0002 a0003c0057t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0007 a0004c0009t0001 a0005c0005t0001 a0005c0015t0003 a0005c0037t0003 a0007c0011t0001 a0007c0039t0001 a0008c0013t0001 a0008c0017t0001 a0009c0012t0001 a0013c0022t0001 a0015c0026t0001 a0016c0034t0001 a0017c0047t0001 a0018c0055t0001 a0019c0046t0001 a0020c0058t0001 a0021c0050t0003 a0023c0045t0003 a0024c0031t0003 a0025c0054t0001 a0026c0053t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(169): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0002g0034 a0001c0001t0002g0060 a0001c0001t0002g0074 a0001c0001t0003g0041 a0001c0006t0001g0076 a0001c0006t0002g0011 a0001c0006t0002g0077 a0001c0006t0002g0101 a0001c0006t0002g0104 a0001c0006t0002g0113 a0001c0006t0002g0125 a0001c0006t0002g0141 a0001c0006t0003g0044 a0001c0006t0003g0047 a0001c0006t0004g0096 a0001c0006t0004g0097 a0001c0014t0001g0068 a0001c0014t0001g0111 a0001c0014t0001g0136 a0001c0014t0001g0137 a0001c0014t0001g0138 a0001c0025t0006g0098 a0001c0027t0004g0151 a0001c0048t0001g0064 a0001c0051t0001g0036 a0001c0056t0001g0123 a0001c0059t0001g0144 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0075 a0003c0003t0001g0078 a0003c0003t0001g0083 a0003c0003t0001g0086 a0003c0003t0001g0117 a0003c0003t0001g0119 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0133 a0003c0003t0001g0147 a0003c0003t0001g0154 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0002g0081 a0003c0057t0001g0128 a0004c0004t0001g0244 a0004c0004t0001g0245 a0004c0004t0002g0002 a0004c0004t0002g0026 a0004c0004t0002g0213 a0004c0004t0002g0218 a0004c0004t0002g0230 a0004c0004t0002g0243 a0004c0004t0003g0027 a0004c0004t0003g0217 a0004c0004t0003g0224 a0004c0004t0003g0228 a0004c0004t0007g0220 a0004c0009t0001g0024 a0004c0009t0001g0219 a0004c0009t0001g0233 a0004c0009t0001g0234 a0004c0009t0001g0239 a0005c0005t0001g0007 a0005c0005t0001g0022 a0005c0005t0001g0196 a0005c0005t0001g0201 a0005c0005t0001g0203 a0005c0005t0001g0204 a0005c0005t0001g0205 a0005c0005t0001g0206 a0005c0005t0001g0207 a0005c0005t0001g0208 a0005c0015t0003g0199 a0005c0015t0003g0200 a0005c0037t0003g0159 a0007c0011t0001g0021 a0007c0011t0001g0191 a0007c0011t0001g0192 a0007c0011t0001g0193 a0007c0011t0001g0202 a0007c0039t0001g0190 a0008c0013t0001g0185 a0008c0013t0001g0214 a0008c0013t0001g0229 a0008c0013t0001g0231 a0008c0013t0001g0232 a0008c0017t0001g0223 a0008c0017t0001g0227 a0008c0017t0001g0241 a0009c0012t0001g0006 a0009c0012t0001g0035 a0009c0012t0001g0148 a0009c0012t0001g0149 a0009c0012t0001g0150 a0009c0012t0001g0283 a0013c0022t0001g0212 a0013c0022t0001g0216 a0015c0026t0001g0108 a0015c0026t0001g0109 a0016c0034t0001g0238 a0017c0047t0001g0056 a0018c0055t0001g0066 a0019c0046t0001g0158 a0020c0058t0001g0116 a0021c0050t0003g0073 a0023c0045t0003g0118 a0024c0031t0003g0235 a0025c0054t0001g0197 a0026c0053t0001g0107	197	286	0.6888	195	c.126 others(212): Show c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCC GAAGGAGGCAATCTTTT		COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	16/55						chr10	TogoVar
COL17A1_chr10_104026286_104090880	104057439	T T	TAAAAGAT others(188): Show TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0100 a0001c0049t0001g0100	1	90	0.0111	195	c.126 others(212): Show c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCC GAAGGAGGCAATCTTTT		COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	16/55						chr10	TogoVar
COL17A1_chr10_104026286_104090880	104057439	T T	TAAAAGAT others(188): Show TAAAAGATTGCCTCCTTCGGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAACCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	90	0.0111	195	c.126 others(212): Show c.1268-268_1268-267insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGTTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCC GAAGGAGGCAATCTTTT		COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	16/55						chr10	TogoVar
COL5A1_chr9_134636803_134849843	134679458	C C	CGGGGCTT others(188): Show CGGGGCTTCTTAGGGGGCACTGCGGGGCTTCTTAGGGGGCACTGCAGGGC TGGTTGGGGGCACTGCGGGGCTGGTTAGGGGGCACTGTGGGGCTTCTTAG GGGGCACTGTGGGGCTGGTTGGGGGCACTGTGGGGCTGGTTGGGGGCACT GCGGGGCTTCTTAGGGGGCACTGCGGGGCTGGTTAGGGGGCACTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01943.hp1 HG02572.hp1 others(3): Show HG01243.hp1 HG01943.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0009 a0001c0003t0003 a0001c0003t0010 others(3): Show a0001c0001t0009 a0001c0003t0003 a0001c0003t0010 a0001c0005t0009 a0001c0005t0045 a0001c0009t0001	a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 others(3): Show a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 a0001c0005t0009g0256 a0001c0005t0045g0267 a0001c0009t0001g0198	6	269	0.0223	195	c.110 others(214): Show c.110-11433_110-11432insCGGGGCTTCTTAGGGGGCACTGCAGG GCTGGTTGGGGGCACTGCGGGGCTGGTTAGGGGGCACTGTGGGGCTTCTT AGGGGGCACTGTGGGGCTGGTTGGGGGCACTGTGGGGCTGGTTGGGGGCA CTGCGGGGCTTCTTAGGGGGCACTGCGGGGCTGGTTAGGGGGCACTGTGG GGCTTCTTAGGGGGCACTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
CROCC2_chr2_240901336_240998311	240923611	C C	CCCCCCAC others(188): Show CCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACA CTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19011.hp2 NA18953.hp1 NA19011.hp2	a0007 a0010 a0007 a0010	a0007c0007 a0010c0010 a0007c0007 a0010c0010	a0007c0007t0001 a0010c0010t0003 a0007c0007t0001 a0010c0010t0003	a0007c0007t0001g0208 a0010c0010t0003g0194 a0007c0007t0001g0208 a0010c0010t0003g0194	2	258	0.0078	195	c.488 others(210): Show c.488+970_488+971insCACACTAACCCAGCCCCCCACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGAC CCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(188): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGAGGAG GGGGAGAGGAGGGGGAGGCGGAGGGGGAGGCGGAGGGGGAGGCGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0078 a0001c0019t0078	a0001c0019t0078g0105 a0001c0019t0078g0105	1	16	0.0625	195	c.416 others(216): Show c.416-142659_416-142658insCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCGCCTCCCCCTCCGCCTCCCCC TCCGCCTCCCCCTCCTCTCCCCCTCCTCTCCCCTCCCCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCACATC CCCCTCACATCCCTCTTCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(188): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	339	0.0029	195	c.28- others(210): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTTGTATTTTT		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20						chr11	TogoVar
CYGB_chr17_76522356_76542709	76526839	C C	CCGCCCTT others(188): Show CCGCCCTTGGTGTGGGACAGGGGATGGGGCGCCCTTGGTGTGGGACAGGG GATGGGCGCCCTTGGTGTGGGAGAGGGGATGGGGCGCCCTTGGTGTGGGA GAGGGGATGGGGCGCCCTTGGTGTGGGACAGGGGATGGGGCGCCCTTGGT GTGGGACAGGGGATGGGGCGCCCTTGGTGTGGGACAGGGGATGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00609.hp2 others(45): Show HG00140.hp1 HG00438.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG02015.hp1 HG02080.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02698.hp2 HG02738.hp2 HG03130.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18984.hp1 NA18987.hp2 NA18990.hp2 NA19003.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0039 others(32): Show a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0039 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0017g0065	48	141	0.3404	195	c.17 others(206): Show c.1738_*1739insCCCCATCCCCTGTCCCACACCAAGGGCGCCCCAT CCCCTGTCCCACACCAAGGGCGCCCCATCCCCTGTCCCACACCAAGGGCG CCCCATCCCCTCTCCCACACCAAGGGCGCCCCATCCCCTCTCCCACACCA AGGGCGCCCATCCCCTGTCCCACACCAAGGGCGCCCCATCCCCTGTCCCA CACCAAGGGCG		CYGB	ENSG00000161544.10	transcript	ENST00000293230.10	protein_coding					516		chr17	TogoVar
CYGB_chr17_76522356_76542709	76526839	C C	CCGCCCTT others(188): Show CCGCCCTTGGTGTGGGACAGGGGATGGGGCGCCCTTGGTGTGGGACAGGG GATGGGCGCCCTTGGTGTGGGAGAGGGGATGGGGCGCCCTTGGTGTGGGA GAGGGGATGGGGCGCCCTTGGTGTGGGAGAGGGGATGGGGCGCCCTTGGT GTGGGACAGGGGATGGGGCGCCCTTGGTGTGGGACAGGGGATGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02258.hp1 others(15): Show HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015	a0001c0001t0006g0014 a0001c0001t0006g0098 a0001c0001t0006g0180 others(8): Show a0001c0001t0006g0014 a0001c0001t0006g0098 a0001c0001t0006g0180 a0001c0001t0006g0191 a0001c0001t0006g0199 a0001c0001t0010g0022 a0001c0001t0010g0055 a0001c0001t0013g0057 a0001c0001t0013g0201 a0001c0001t0015g0066 a0001c0001t0015g0067	18	111	0.1622	195	c.17 others(206): Show c.1738_*1739insCCCCATCCCCTGTCCCACACCAAGGGCGCCCCAT CCCCTGTCCCACACCAAGGGCGCCCCATCCCCTCTCCCACACCAAGGGCG CCCCATCCCCTCTCCCACACCAAGGGCGCCCCATCCCCTCTCCCACACCA AGGGCGCCCATCCCCTGTCCCACACCAAGGGCGCCCCATCCCCTGTCCCA CACCAAGGGCG		CYGB	ENSG00000161544.10	transcript	ENST00000293230.10	protein_coding					516		chr17	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(188): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCC TCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCC CCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG02486.hp2 HG02896.hp2 HG02897.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0019 a0001c0001t0001g0020	4	19	0.2105	195	c.165 others(210): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAG GGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGG GGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAG TGGGGAGGAGAGGAG		CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12						chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(188): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	282	0.0035	195	c.-11 others(206): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATATATATATTTTTTTT TTTTTTTTTTT		DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding					1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(188): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01993.hp1 HG02698.hp2 HG01081.hp2 HG01993.hp1 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0031 a0001c0002t0005 a0001c0002t0031	a0001c0002t0005g0002 a0001c0002t0031g0002 a0001c0002t0005g0002 a0001c0002t0031g0002	3	284	0.0106	195	c.-11 others(206): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATATATTTTTTTTTTTT TTTTTTTTTTT		DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding					1138		chr7	TogoVar

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