Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CEACAM20_chr19_44501159_44534675	44532525	GGAAAGAA others(44): Show GGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAGAAAGAAAGAAAAGAAAGA AA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01081.hp1 NA18949.hp2 others(4): Show HG00423.hp2 HG01081.hp1 NA18949.hp2 NA18977.hp2 NA18983.hp1 NA19064.hp1 NA19085.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0004 a0004c0003 a0002c0002 a0003c0004 a0004c0003	a0002c0002t0001 a0003c0004t0001 a0004c0003t0001 a0002c0002t0001 a0003c0004t0001 a0004c0003t0001	a0002c0002t0001g0020 a0003c0004t0001g0001 a0003c0004t0001g0021 others(3): Show a0002c0002t0001g0020 a0003c0004t0001g0001 a0003c0004t0001g0021 a0003c0004t0001g0048 a0004c0003t0001g0006 a0004c0003t0001g0273	7	396	0.0177	-51	c.-30 others(62): Show c.-3067_-3017delTTTCTTTCTTTTCTTTCTTTCTTCCTTTCTTTCC TTTCTTTCCTTTCTTTC		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding					2851		chr19	TogoVar
CENPF_chr1_214598195_214669571	214616888	TCTTTCTT others(44): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCCACCC TC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0189 a0004c0004t0002g0189	1	280	0.0036	-51	c.360 others(68): Show c.360-1683_360-1633delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTTTCTTTCCACCCTCC		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP170B_chr14_104860268_104901747	104884691	GGGGGGTG others(44): Show GGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAA CC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03654.hp1 HG04199.hp2 others(1): Show HG02698.hp1 HG03654.hp1 HG04199.hp2 NA19083.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0082 a0002c0028 a0002c0064 others(1): Show a0001c0082 a0002c0028 a0002c0064 a0010c0063	a0001c0082t0002 a0002c0028t0002 a0002c0064t0002 others(1): Show a0001c0082t0002 a0002c0028t0002 a0002c0064t0002 a0010c0063t0002	a0001c0082t0002g0033 a0002c0028t0002g0192 a0002c0064t0002g0163 others(1): Show a0001c0082t0002g0033 a0002c0028t0002g0192 a0002c0064t0002g0163 a0010c0063t0002g0161	4	320	0.0125	-51	c.177 others(68): Show c.1770+193_1770+243delCGGGGGTGGAGGTGATGCCGGGGGTGGC GAGTGAGAGCCCTCGTGGGGAAC		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104884813	GGGGGTGG others(44): Show GGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATG CC	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0182 a0001c0002t0002g0182	1	326	0.0031	-51	c.177 others(68): Show c.1770+269_1770+319delTGGCGAGTGAGAGCCCTCGTGGGGAACG GGGGGGTGGAGGTGATGCCGGGG		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
CFAP299_chr4_80330730_80968750	80800506	ATATAATA others(44): Show ATATAATATATAATATATAATATATTATATAATATATAATATATCAATAT AT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0047 a0002c0007t0001g0047	1	94	0.0106	-51	c.334 others(70): Show c.334-69482_334-69432delATATATAATATATAATATATTATATA ATATATAATATATCAATATATTATA		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132912172	CCTCCTCT others(44): Show CCTCCTCTCTCCTGTCCTCTTTCCTCTCTCTCTCTTCCCTCTCCTCTCTC TT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0054 a0054	a0054c0105 a0054c0105	a0054c0105t0001 a0054c0105t0001	a0054c0105t0001g0239 a0054c0105t0001g0239	1	244	0.0041	-51	c.249 others(68): Show c.2499+432_2499+482delAAGAGAGAGGAGAGGGAAGAGAGAGAGA GGAAAGAGGACAGGAGAGAGGAG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	19/57						chr10	TogoVar
CFAP92_chr3_128904873_128999076	128955109	CGCCCGGC others(44): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	327	0.0031	-51	c.135 others(70): Show c.1354-9185_1354-9135delAGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGC		CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15						chr3	TogoVar
CFAP95_chr9_69815817_69911227	69843542	CCTCCTCC others(44): Show CCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG03540.hp2 HG01884.hp2 HG02970.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0030 a0001c0001t0001g0151 a0001c0001t0001g0153	3	373	0.0080	-51	c.153 others(66): Show c.153-972_153-922delCCTCCTCCTCCTCCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843551	CCTCCTCC others(44): Show CCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	351	0.0028	-51	c.153 others(66): Show c.153-963_153-913delCCTCCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D2_chr13_114174257_114228085	114219130	TGACAAAG others(44): Show TGACAAAGGGCTAATATCCAGAATCTACAAAGAACTCAAACAAATTTACA TC	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	398	0.0025	-51	c.291 others(68): Show c.291-3370_291-3320delGACAAAGGGCTAATATCCAGAATCTACA AAGAACTCAAACAAATTTACATC		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	3/3						chr13	TogoVar
CFD_chr19_854664_868641	866515	ACCAGTGC others(44): Show ACCAGTGCTCCCATCTCCTCCCCGTCCACCCGCCGCAGGCCTGCACCCCT CG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18997.hp1 NA18995.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0010	2	285	0.0070	-51	c.32 others(62): Show c.3278_*3328delCCAGTGCTCCCATCTCCTCCCCGTCCACCCGCCG CAGGCCTGCACCCCTCG		CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding					2875		chr19	TogoVar
CFD_chr19_854664_868641	866520	TGCTCCCA others(44): Show TGCTCCCATCTCCTCCCCGTCCACCCGCCGCAGGCCTGCACCCCTCGCCA GC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 NA18948.hp1 HG01256.hp1 HG01258.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0001 a0001c0001t0001g0001 a0001c0001t0005g0001	3	243	0.0123	-51	c.32 others(62): Show c.3283_*3333delGCTCCCATCTCCTCCCCGTCCACCCGCCGCAGGC CTGCACCCCTCGCCAGC		CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding					2880		chr19	TogoVar
CFD_chr19_854664_868641	866580	CTCCTCCC others(44): Show CTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00597.hp1 others(126): Show HG00140.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01258.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0003t0001 a0001c0003t0007 a0001c0003t0009 a0001c0006t0001 a0002c0002t0001 a0002c0002t0005 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0059 a0001c0001t0002g0075 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0003g0023 a0001c0001t0003g0031 a0001c0001t0003g0077 a0001c0001t0004g0005 a0001c0001t0004g0012 a0001c0001t0004g0042 a0001c0001t0005g0020 a0001c0001t0006g0038 a0001c0001t0006g0044 a0001c0001t0011g0002 a0001c0001t0012g0004 a0001c0001t0012g0032 a0001c0001t0014g0004 a0001c0003t0001g0064 a0001c0003t0007g0011 a0001c0003t0009g0011 a0001c0006t0001g0078 a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0039 a0002c0002t0001g0056 a0002c0002t0005g0052 a0003c0004t0001g0030	129	275	0.4691	-51	c.33 others(62): Show c.3343_*3393delTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCC TCGCCAGCGCTCCCATG		CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding					2940		chr19	TogoVar
CFD_chr19_854664_868641	866682	GTCCTCCC others(44): Show GTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	229	0.0044	-51	c.34 others(62): Show c.3445_*3495delTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCC TCGCCAGCGCTCCCATC		CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding					3042		chr19	TogoVar
CFD_chr19_854664_868641	866733	CTCCTCCC others(44): Show CTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCACCAGCGCTCCCA TG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	243	0.0041	-51	c.34 others(62): Show c.3496_*3546delTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCC TCACCAGCGCTCCCATG		CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding					3093		chr19	TogoVar
CFD_chr19_854664_868641	866848	GCCCACTG others(44): Show GCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00673.hp1 others(57): Show HG00140.hp1 HG00408.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01258.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp2 HG04199.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18960.hp2 NA18970.hp2 NA18982.hp1 NA19012.hp2 NA19078.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0003t0001 a0001c0003t0007 a0001c0003t0009 a0001c0005t0010 a0001c0006t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0022 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0003g0023 a0001c0001t0003g0031 a0001c0001t0005g0020 a0001c0001t0006g0038 a0001c0001t0006g0044 a0001c0001t0008g0043 a0001c0001t0011g0022 a0001c0001t0012g0004 a0001c0001t0012g0032 a0001c0001t0014g0004 a0001c0003t0001g0064 a0001c0003t0007g0011 a0001c0003t0009g0011 a0001c0005t0010g0065 a0001c0006t0001g0078 a0002c0002t0001g0039 a0003c0004t0001g0030	60	255	0.2353	-51	c.36 others(62): Show c.3611_*3661delCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCC CATCTCCTCTCCGTCCA		CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding					3208		chr19	TogoVar
CGREF1_chr2_27095594_27124128	27101385	GGCCTCTG others(44): Show GGCCTCTGCCTGGCCCCCAGCTTCCCCTCTGGGCCCGGGGGCATCTCCTT CA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(334): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0003c0005 a0004c0006 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0017 a0001c0004t0001 a0001c0004t0015 a0001c0004t0016 a0001c0008t0001 a0001c0009t0002 a0001c0011t0002 a0001c0012t0002 a0003c0005t0001 a0004c0006t0002 a0005c0010t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(278): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0002g0186 a0001c0001t0006g0210 a0001c0001t0006g0254 a0001c0001t0006g0273 a0001c0001t0010g0168 a0001c0001t0010g0205 a0001c0001t0011g0030 a0001c0001t0012g0031 a0001c0001t0014g0197 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0290 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0190 a0001c0002t0002g0215 a0001c0002t0004g0021 a0001c0002t0004g0116 a0001c0002t0004g0118 a0001c0002t0004g0119 a0001c0002t0005g0013 a0001c0002t0005g0014 a0001c0002t0005g0043 a0001c0002t0007g0010 a0001c0002t0007g0039 a0001c0002t0008g0015 a0001c0002t0013g0092 a0001c0002t0017g0294 a0001c0004t0001g0029 a0001c0004t0001g0040 a0001c0004t0001g0069 a0001c0004t0001g0072 a0001c0004t0001g0211 a0001c0004t0001g0221 a0001c0004t0001g0226 a0001c0004t0001g0284 a0001c0004t0001g0293 a0001c0004t0015g0261 a0001c0004t0016g0292 a0001c0008t0001g0182 a0001c0009t0002g0084 a0001c0011t0002g0117 a0001c0012t0002g0086 a0003c0005t0001g0135 a0003c0005t0001g0139 a0003c0005t0001g0163 a0003c0005t0001g0166 a0003c0005t0001g0173 a0003c0005t0001g0192 a0004c0006t0002g0066 a0004c0006t0002g0098 a0005c0010t0002g0074	337	350	0.9629	-51	c.795 others(58): Show c.795_845delTGAAGGAGATGCCCCCGGGCCCAGAGGGGAAGCTGGGG GCCAGGCAGAGGC	p.Glu others(13): Show p.Glu266_Ala282del	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	6/6	1139/1931	795/957	265/318			chr2	TogoVar
CHCHD6_chr3_126699240_126965420	126865101	ACCACCAC others(44): Show ACCACCACCTCCACTTCTTCCTCCTCCTCCTCCTCCACCACCACCTCCTT TT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02015.hp2 HG02055.hp1 others(3): Show HG01884.hp2 HG02015.hp2 HG02055.hp1 HG02145.hp1 HG03669.hp2 HG04204.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0001 a0002c0002t0001 a0003c0004t0001	a0002c0002t0001g0027 a0002c0002t0001g0047 a0002c0002t0001g0049 others(3): Show a0002c0002t0001g0027 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0003c0004t0001g0028 a0003c0004t0001g0029	6	211	0.0284	-51	c.495 others(70): Show c.495+12404_495+12454delTCCACCACCACCTCCTTTTCCACCAC CTCCACTTCTTCCTCCTCCTCCTCC		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126865136	CACCACCA others(44): Show CACCACCACCTCCTTTTCCACCACCTCCACTTCTTCCTCCTCCTCCTCCA CT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	212	0.0047	-51	c.495 others(70): Show c.495+12413_495+12463delACCTCCTTTTCCACCACCTCCACTTC TTCCTCCTCCTCCTCCACTACCACC		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHDH_chr3_53807335_53851419	53849855	ACTATATG others(44): Show ACTATATGAACCATTAATTCCCCTTCTACGCATAACCAACAGAAATACAT GC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0156 a0002c0002t0156	a0002c0002t0156g0325 a0002c0002t0156g0325	1	390	0.0026	-51	c.-39 others(62): Show c.-3954_-3904delGCATGTATTTCTGTTGGTTATGCGTAGAAGGGGA ATTAATGGTTCATATAG		CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding					3437		chr3	TogoVar
CHL1_chr3_191763_414417	288378	CAATGTAC others(44): Show CAATGTACAATATATCCAGAAGGTAATTAGCAACTGGTTACAGTTTGCTA CT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0103 a0001c0001t0025g0103	1	288	0.0035	-51	c.-94 others(70): Show c.-94-31249_-94-31199delTACAATATATCCAGAAGGTAATTAGC AACTGGTTACAGTTTGCTACTAATG		CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST11_chr12_104451948_104767014	104475666	ATATATAT others(44): Show ATATATATATATATATATATATATATTTCTGATTATGAAATTAATTCAAG TG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18522.hp1 HG02145.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0124 a0001c0001t0027g0123 a0001c0001t0001g0124 a0001c0001t0027g0123	2	238	0.0084	-51	c.118 others(70): Show c.118+18141_118+18191delATATATATATATATATATATATTTCT GATTATGAAATTAATTCAAGTGTAT		CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST8_chr19_33616953_33778506	33618397	GTCTTCTT others(44): Show GTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCTTCTTCTTCTTCTTCTT CT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	181	0.0055	-51	c.-40 others(62): Show c.-4062_-4012delTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCTT CTTCTTCTTCTTCTTCT		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding					3555		chr19	TogoVar
CLDN8_chr21_30209006_30221097	30210361	TATATATA others(44): Show TATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGT AC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18974.hp1 NA18967.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	463	0.0043	-51	c.48 others(62): Show c.4836_*4886delGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3644		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210416	TATATATA others(44): Show TATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGT AC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	464	0.0022	-51	c.47 others(62): Show c.4781_*4831delGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3589		chr21	TogoVar
CLIC4_chr1_24740447_24849321	24799609	GCCCCCCG others(44): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCGGGGAGGGAGGTGGGGGGGGTCA GC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG03209.hp1 others(1): Show HG02622.hp2 HG02723.hp2 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 others(1): Show a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216	4	341	0.0117	-51	c.182 others(68): Show c.182+1785_182+1835delGGGGAGGGAGGTGGGGGGGGTCAGCCCC CCCGCCCGGCCAGCCGCCCCGTC		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLK1_chr2_200848009_200869658	200856339	GGATTACA others(44): Show GGATTACAGATGTGAGCCACCGCGCCCCACCCTTGGCCTCCCAAAGTGCT GA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	416	0.0024	-51	c.105 others(68): Show c.1057+292_1057+342delTCAGCACTTTGGGAGGCCAAGGGTGGGG CGCGGTGGCTCACATCTGTAATC		CLK1	ENSG00000013441.17	transcript	ENST00000321356.9	protein_coding	9/12						chr2	TogoVar
CLUL1_chr18_591988_655182	596803	TCCCGCCC others(44): Show TCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCACCCGGCGTCACCTGCAG GC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(57): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03942.hp2 HG04228.hp2 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18966.hp2 NA18975.hp1 NA18983.hp1 NA18999.hp2 NA19000.hp2 NA19010.hp2 NA19070.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(56): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0187 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0370 a0001c0001t0001g0393 a0001c0001t0001g0395 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0007g0056 a0001c0001t0007g0057 a0005c0007t0001g0282	60	403	0.1489	-51	c.-46 others(60): Show c.-461_-411delCCCGCCCACCCGGCGTCTGCAGGCCCCGCCCACCCG GCGTCACCTGCAGGC		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding					184		chr18	TogoVar
CLUL1_chr18_591988_655182	626908	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAA GG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	412	0.0024	-51	c.424 others(66): Show c.424-185_424-135delAAAGAAAGAAAGAAAGAAGGAAAGAAGGAA AGAAGGAAGGAAGGAAGGAAG		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CNBD1_chr8_86861415_87387859	87271784	TATCAAAG others(44): Show TATCAAAGGGATATCCACACTCCTATGCTTATTGCAGCACTATTCACAGT AG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG02647.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0040 a0001c0006t0001g0098 a0001c0006t0001g0040 a0001c0006t0001g0098	2	152	0.0132	-51	c.772 others(70): Show c.772-12893_772-12843delATCAAAGGGATATCCACACTCCTATG CTTATTGCAGCACTATTCACAGTAG		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10						chr8	TogoVar
CNST_chr1_246561456_246673595	246620337	GCATACAC others(44): Show GCATACACACGATGGGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAG TC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0206 a0001c0001t0011g0206	1	200	0.0050	-51	c.380 others(68): Show c.380-1091_380-1041delCATACACACGATGGGCTCTGGGAACACT CTACAGGGAGGACGGCTTCAGTC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10						chr1	TogoVar
CNST_chr1_246561456_246673595	246620391	GCATACAC others(44): Show GCATACACACGATGGGCTCTGGGCACACTCTACAGGGAGGACGGCTTCAG TC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG02965.hp2 others(1): Show HG00642.hp1 HG00741.hp1 HG02965.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0305 a0001c0001t0002g0007 a0001c0001t0002g0274 others(1): Show a0001c0001t0001g0305 a0001c0001t0002g0007 a0001c0001t0002g0274 a0001c0001t0008g0174	4	318	0.0126	-51	c.380 others(67): Show c.380-1037_380-987delCATACACACGATGGGCTCTGGGCACACTC TACAGGGAGGACGGCTTCAGTC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10						chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	147575188	GTGTGTGT others(44): Show GTGTGTGTGTGTGTGTATTCCCTAGCTTTAGGAGTATGCATATGTGTGTG TT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG03239.hp2 others(4): Show HG02922.hp2 HG03139.hp2 HG03239.hp2 NA19030.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0001c0003t0023 a0001c0004t0005 a0001c0006t0009 a0001c0011t0016	a0001c0001t0001g0038 a0001c0001t0018g0001 a0001c0002t0002g0040 others(4): Show a0001c0001t0001g0038 a0001c0001t0018g0001 a0001c0002t0002g0040 a0001c0003t0023g0030 a0001c0004t0005g0004 a0001c0006t0009g0028 a0001c0011t0016g0019	7	40	0.1750	-51	c.189 others(72): Show c.1897+12947_1897+12997delATTCCCTAGCTTTAGGAGTATGCA TATGTGTGTGTTTGTGTGTGTGTGTGT		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148283281	AAGAAAGA others(44): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAA AG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02630.hp2 HG02976.hp2 others(4): Show HG00735.hp2 HG02630.hp2 HG02976.hp2 HG03098.hp1 HG03225.hp1 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0019	a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0020 a0001c0009t0019 a0001c0019t0006	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0002t0002g0013 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0002t0002g0013 a0001c0002t0010g0002 a0001c0003t0020g0017 a0001c0009t0019g0027 a0001c0019t0006g0015	7	40	0.1750	-51	c.347 others(72): Show c.3475+16157_3475+16207delGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGGAAAGAAAGAAAGA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030764	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGATGTGTGCGAGAGAGAGAGAGAGAGAGAG GA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG03486.hp1 others(1): Show HG02109.hp1 HG02622.hp1 HG03486.hp1 NA19030.hp1	a0008 a0023 a0008 a0023	a0008c0009 a0008c0016 a0023c0014 a0008c0009 a0008c0016 a0023c0014	a0008c0009t0023 a0008c0009t0025 a0008c0016t0001 others(1): Show a0008c0009t0023 a0008c0009t0025 a0008c0016t0001 a0023c0014t0001	a0008c0009t0023g0039 a0008c0009t0025g0037 a0008c0016t0001g0036 others(1): Show a0008c0009t0023g0039 a0008c0009t0025g0037 a0008c0016t0001g0036 a0023c0014t0001g0038	4	106	0.0377	-51	c.391 others(70): Show c.391-17290_391-17240delTCCTCTCTCTCTCTCTCTCTCTCGCA CACATCTCTCTCTCTCTCTCTCTCT		CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23						chr9	TogoVar
CNTNAP5_chr2_124020287_124926219	124804980	GTTAAAAA others(44): Show GTTAAAAATTAATACTCCTCTTTGTATGAAATACTCTTTGTATGAAATAC TC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	62	0.0161	-51	c.321 others(70): Show c.3217+6696_3217+6746delTTTGTATGAAATACTCTTAAAAATTA ATACTCCTCTTTGTATGAAATACTC		CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL18A1_chr21_45400165_45518720	45490015	CACACCCT others(44): Show CACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACTCCCCC CG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp2 HG02572.hp1 others(12): Show HG00544.hp1 HG00733.hp2 HG02572.hp1 HG02683.hp1 HG02922.hp2 NA18944.hp1 NA18964.hp2 NA18969.hp1 NA18975.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp2 NA19010.hp2 NA19088.hp2 NA20905.hp2	a0001 a0025 a0001 a0025	a0001c0009 a0001c0010 a0001c0015 others(4): Show a0001c0009 a0001c0010 a0001c0015 a0001c0036 a0001c0043 a0001c0044 a0025c0042	a0001c0009t0001 a0001c0010t0002 a0001c0010t0006 others(5): Show a0001c0009t0001 a0001c0010t0002 a0001c0010t0006 a0001c0015t0001 a0001c0036t0004 a0001c0043t0006 a0001c0044t0001 a0025c0042t0001	a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 others(12): Show a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 a0001c0009t0001g0247 a0001c0010t0002g0046 a0001c0010t0002g0138 a0001c0010t0002g0152 a0001c0010t0006g0014 a0001c0015t0001g0128 a0001c0015t0001g0172 a0001c0015t0001g0202 a0001c0036t0004g0019 a0001c0043t0006g0245 a0001c0044t0001g0002 a0025c0042t0001g0035	15	290	0.0517	-51	c.196 others(68): Show c.1960-257_1960-207delACCCTCCCCCACTTCCCCGTCCCCCACA CCTCCTCCCCCACTCCCCCCGAC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL26A1_chr7_101357875_101564024	101401530	GAAGGAGG others(44): Show GAAGGAGGAGGAAGAGGAAGAGTAGGAGGAAGAAGAGAAAGAGGAGGAGG AA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18942.hp1 NA18984.hp1 HG02040.hp2 NA18942.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051	3	172	0.0174	-51	c.159 others(70): Show c.159-18410_159-18360delAAAGAGGAGGAGGAAAAGGAGGAGGA AGAGGAAGAGTAGGAGGAAGAAGAG		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(44): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTT TC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02896.hp2 NA20129.hp2 others(1): Show HG01070.hp2 HG02896.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0005c0015	a0001c0001t0002 a0001c0002t0006 a0002c0004t0030 others(1): Show a0001c0001t0002 a0001c0002t0006 a0002c0004t0030 a0005c0015t0013	a0001c0001t0002g0174 a0001c0002t0006g0009 a0002c0004t0030g0142 others(1): Show a0001c0001t0002g0174 a0001c0002t0006g0009 a0002c0004t0030g0142 a0005c0015t0013g0035	4	118	0.0339	-51	c.385 others(70): Show c.385+41926_385+41976delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCTTTCT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489870	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TG	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0025 a0002c0003t0025	a0002c0003t0025g0136 a0002c0003t0025g0136	1	171	0.0058	-51	c.385 others(70): Show c.385+42085_385+42135delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTGT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL6A1_chr21_45976770_46010048	45977769	AGGAGAGA others(44): Show AGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAG GG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG04228.hp1 NA19067.hp2 others(1): Show HG01258.hp2 HG04228.hp1 NA19067.hp2 NA19088.hp2	a0001 a0007 a0020 a0001 a0007 a0020	a0001c0003 a0007c0014 a0020c0031 a0001c0003 a0007c0014 a0020c0031	a0001c0003t0003 a0001c0003t0006 a0007c0014t0002 others(1): Show a0001c0003t0003 a0001c0003t0006 a0007c0014t0002 a0020c0031t0013	a0001c0003t0003g0036 a0001c0003t0006g0005 a0007c0014t0002g0087 others(1): Show a0001c0003t0003g0036 a0001c0003t0006g0005 a0007c0014t0002g0087 a0020c0031t0013g0022	4	124	0.0323	-51	c.-40 others(62): Show c.-4081_-4031delGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGG GGAGAGAGGAGGGAGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					4000		chr21	TogoVar
CPEB4_chr5_173883349_173966980	173960957	AGGATTTA others(44): Show AGGATTTATTATAACAAAATATAACACTGAGAATATCCTGTTTTGTCAGA TT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0066 a0001c0001t0039g0066	1	370	0.0027	-51	c.48 others(62): Show c.4821_*4871delGGATTTATTATAACAAAATATAACACTGAGAATA TCCTGTTTTGTCAGATT		CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	10/10				4821		chr5	TogoVar
CRK_chr17_1415693_1461232	1455622	TGGGGCCG others(44): Show TGGGGCCGAAGCAGTTCCCCTTCCCCGCGGCTGCCCTCCCCAGGCACACC CC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18990.hp1 HG01346.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0134 a0001c0001t0002g0135	2	402	0.0050	-51	c.241 others(66): Show c.241+204_241+254delGGGGTGTGCCTGGGGAGGGCAGCCGCGGGG AAGGGGAACTGCTTCGGCCCC		CRK	ENSG00000167193.8	transcript	ENST00000300574.3	protein_coding	1/2						chr17	TogoVar
CROCC2_chr2_240901336_240998311	240924221	CCCCCACA others(44): Show CCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCC AG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0187 a0018c0016t0001g0187	1	310	0.0032	-51	c.489 others(68): Show c.489-1498_489-1448delACACTGACCCGGCCCCCACACTAACCCG GCCCCCCACACTAACCCAGCCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CRYBG2_chr1_26316865_26359130	26345014	AACCTCTT others(44): Show AACCTCTTTCCAGGTGGGAAATGAGGCATCAGGAGCACCGGGGCCCTTCA CG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(173): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA19001.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0005 a0014 others(1): Show a0001 a0005 a0014 a0018	a0001c0002 a0001c0003 a0001c0008 others(20): Show a0001c0002 a0001c0003 a0001c0008 a0001c0012 a0001c0015 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0005c0006 a0014c0029 a0018c0037	a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 others(22): Show a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0001c0012t0001 a0001c0015t0001 a0001c0018t0001 a0001c0019t0002 a0001c0020t0002 a0001c0021t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0038t0002 a0001c0039t0002 a0001c0040t0002 a0001c0041t0001 a0001c0042t0001 a0005c0006t0001 a0014c0029t0001 a0018c0037t0001	a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0016 others(156): Show a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0118 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0192 a0001c0002t0001g0264 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0005g0060 a0001c0003t0001g0024 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0041 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0191 a0001c0003t0001g0196 a0001c0003t0001g0235 a0001c0003t0001g0238 a0001c0003t0001g0250 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0297 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0003t0001g0313 a0001c0003t0001g0315 a0001c0003t0001g0316 a0001c0003t0002g0120 a0001c0003t0002g0193 a0001c0003t0002g0231 a0001c0003t0002g0234 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0243 a0001c0003t0002g0244 a0001c0003t0002g0247 a0001c0003t0002g0248 a0001c0003t0002g0249 a0001c0003t0002g0252 a0001c0003t0002g0254 a0001c0003t0002g0267 a0001c0003t0002g0272 a0001c0003t0002g0317 a0001c0003t0002g0318 a0001c0008t0001g0009 a0001c0008t0001g0037 a0001c0008t0001g0042 a0001c0008t0001g0043 a0001c0008t0001g0044 a0001c0008t0001g0190 a0001c0008t0001g0245 a0001c0012t0001g0056 a0001c0012t0001g0059 a0001c0012t0001g0222 a0001c0012t0001g0223 a0001c0015t0001g0031 a0001c0015t0001g0197 a0001c0015t0001g0198 a0001c0018t0001g0225 a0001c0018t0001g0232 a0001c0019t0002g0236 a0001c0019t0002g0237 a0001c0020t0002g0033 a0001c0020t0002g0263 a0001c0021t0001g0025 a0001c0031t0001g0135 a0001c0032t0001g0227 a0001c0033t0001g0301 a0001c0034t0001g0040 a0001c0035t0001g0137 a0001c0036t0001g0173 a0001c0038t0002g0251 a0001c0039t0002g0314 a0001c0040t0002g0320 a0001c0041t0001g0179 a0001c0042t0001g0226 a0005c0006t0001g0005 a0005c0006t0001g0023 a0005c0006t0001g0202 a0005c0006t0001g0258 a0005c0006t0001g0259 a0005c0006t0001g0260 a0014c0029t0001g0319 a0018c0037t0001g0233	176	374	0.4706	-51	c.159 others(60): Show c.1593_1643delCGTGAAGGGCCCCGGTGCTCCTGATGCCTCATTTCC CACCTGGAAAGAGGT	p.Val others(13): Show p.Val532_Val548del	CRYBG2	ENSG00000176092.17	transcript	ENST00000308182.10	protein_coding	2/20	1793/5239	1593/4986	531/1661			chr1	TogoVar
CRYL1_chr13_20398669_20530857	20497405	CACACACA others(44): Show CACACACACAACTACACACACACCACCATACACACAACTACACACACCAC AT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00609.hp1 others(49): Show HG00099.hp2 HG00140.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18943.hp2 NA18945.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18963.hp2 NA18968.hp2 NA18971.hp1 NA18981.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19062.hp1 NA19066.hp2 NA19081.hp2 NA19084.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0051 others(49): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0202 a0001c0001t0001g0225 a0001c0001t0001g0232 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0054 a0001c0001t0002g0066 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0004g0109 a0001c0002t0001g0117 a0001c0002t0001g0150 a0001c0002t0001g0189 a0001c0002t0002g0176 a0001c0003t0001g0003 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0028 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0026 a0001c0003t0002g0029 a0001c0003t0002g0042 a0001c0003t0002g0045 a0001c0004t0001g0032	52	248	0.2097	-51	c.150 others(68): Show c.150-7960_150-7910delATGTGGTGTGTGTAGTTGTGTGTATGGT GGTGTGTGTGTAGTTGTGTGTGT		CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7						chr13	TogoVar
CSF2RA_chrX_1263814_1314935	1291250	TCCTCCCT others(44): Show TCCTCCCTGCCTTTCTGCCTTTCTTCTTTTTTCTTCCTTCCTTCCTTCCT TC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG01123.hp2 others(4): Show HG00140.hp1 HG00423.hp2 HG01123.hp2 HG01358.hp1 HG01496.hp2 HG03927.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0002g0051 a0001c0001t0003g0094 a0001c0001t0003g0134 others(4): Show a0001c0001t0002g0051 a0001c0001t0003g0094 a0001c0001t0003g0134 a0001c0001t0003g0149 a0001c0001t0004g0039 a0001c0001t0004g0072 a0001c0002t0003g0123	7	157	0.0446	-51	c.646 others(66): Show c.646+749_646+799delGCCTTTCTGCCTTTCTTCTTTTTTCTTCCT TCCTTCCTTCCTTCCCTCCCT		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	7/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	4920887	AAAAGAAA others(44): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAA AG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG02055.hp2 HG02723.hp2	a0004 a0005 a0004 a0005	a0004c0057 a0005c0065 a0004c0057 a0005c0065	a0004c0057t0080 a0005c0065t0023 a0004c0057t0080 a0005c0065t0023	a0004c0057t0080g0075 a0005c0065t0023g0050 a0004c0057t0080g0075 a0005c0065t0023g0050	2	104	0.0192	-51	c.85+ others(68): Show c.85+73394_85+73444delCTTTCTCTCTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542637	TATGTATA others(44): Show TATGTATATATATATATATATATATATATATATATGTATATATATATATA TA	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA19086.hp1 NA18978.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0020 a0001c0001t0001 a0001c0003t0020	a0001c0001t0001g0082 a0001c0003t0020g0011 a0001c0001t0001g0082 a0001c0003t0020g0011	2	385	0.0052	-51	c.230 others(68): Show c.230+7387_230+7437delTATATATATATATATACATATATATATA TATATATATATATATATATACAT		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542639	TGTATATA others(44): Show TGTATATATATATATATATATATATATATATATGTATATATATATATATA TA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0128 a0001c0001t0008g0128	1	388	0.0026	-51	c.230 others(68): Show c.230+7385_230+7435delTATATATATATATATATACATATATATA TATATATATATATATATATATAC		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar

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