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	status	chr	external
CEL_chr9_133056981_133076861	133071369	GCCCCCCC others(158): Show GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCC CACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG CCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCC ACGGGTGACGCCGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0022 a0002c0004t0001g0022	1	385	0.0026	-165	c.189 others(9): Show c.1899_2063del	p.Ala others(13): Show p.Ala634_Gly688del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1921/2381	1899/2262	633/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071405	CCCCCCGT others(224): Show CCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCC CCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACG GGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCC CCCCGTGACCCCCACGGGTGACTCCGAGACCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	2	414	0.0048	-231	c.194 others(9): Show c.1941_2171del	p.Val others(13): Show p.Val648_Pro724del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1963/2381	1941/2262	647/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071410	CGTGCCGC others(257): Show CGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTG ACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCC GTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGA CTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCG TGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGAC TCCGGGGCCCCCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp1 HG03471.hp2 NA20129.hp1 HG02895.hp1 HG03471.hp2 NA20129.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0017 a0004c0005t0001g0052 a0004c0005t0001g0017 a0004c0005t0001g0052	3	414	0.0072	-264	c.191 others(9): Show c.1914_2177del	p.Pro others(13): Show p.Pro639_Pro726del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1936/2381	1914/2262	638/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071435	GCCCCCCC others(92): Show GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCC CACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG01070.hp1 HG01081.hp1 others(1): Show HG00140.hp2 HG01070.hp1 HG01081.hp1 HG02735.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0026 a0006c0008 a0001c0001 a0001c0026 a0006c0008	a0001c0001t0001 a0001c0026t0001 a0006c0008t0001 a0001c0001t0001 a0001c0026t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0026t0001g0001 a0006c0008t0001g0001 a0001c0001t0001g0001 a0001c0026t0001g0001 a0006c0008t0001g0001	4	365	0.0110	-99	c.196 others(108): Show c.1965_2063delGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGC CCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCA CGGGTGACTCCGG	p.Ala others(13): Show p.Ala656_Gly688del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1987/2381	1965/2262	655/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071443	CGTGCCGC others(224): Show CGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTG ACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCC GTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGA CTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCG TGCCGCCCACGGGTGACTCCGGGGCCCCCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02976.hp1 HG02976.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0034 a0012c0021t0001g0034	1	413	0.0024	-231	c.194 others(9): Show c.1947_2177del	p.Pro others(13): Show p.Pro650_Pro726del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1969/2381	1947/2262	649/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071467	GGCCCCCC others(92): Show GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGC CCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	360	0.0028	-99	c.199 others(108): Show c.1998_2096delCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCC CCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCA CGGGTGACTCCGG	p.Ala others(13): Show p.Ala667_Gly699del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2020/2381	1998/2262	666/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071534	CCCCCCCC others(26): Show CCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp2 HG00558.hp1 HG00639.hp1 others(29): Show HG00323.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG01358.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02155.hp2 HG02257.hp2 HG02602.hp2 HG03710.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18948.hp2 NA18950.hp1 NA18960.hp2 NA18965.hp2 NA18967.hp1 NA18986.hp1 NA19011.hp2 NA19062.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0002t0001g0002 a0001c0002t0001g0005 others(6): Show a0001c0001t0001g0003 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0048 a0001c0003t0001g0005	32	411	0.0779	-33	c.206 others(42): Show c.2064_2096delCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG	p.Ala others(13): Show p.Ala689_Gly699del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2086/2381	2064/2262	688/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071581	GCCCACGG others(26): Show GCCCACGGGTGACTCCGGGGCCCCCCCCGTGACC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	413	0.0024	-33	c.209 others(42): Show c.2096_2128delGGGCCCCCCCCGTGACCCCCACGGGTGACTCCG	p.Gly others(13): Show p.Gly699_Ser709del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2118/2381	2096/2262	699/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071614	CCCCACGG others(26): Show CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00733.hp2 HG01517.hp2 others(1): Show HG00280.hp1 HG00733.hp2 HG01517.hp2 HG01943.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0002 a0003c0006t0001g0002	4	412	0.0097	-33	c.212 others(42): Show c.2129_2161delAGACCGCCCCCGTGCCGCCCACGGGTGACTCCG	p.Glu others(13): Show p.Glu710_Ser720del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2151/2381	2129/2262	710/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071669	CCCCCTGT others(26): Show CCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG00738.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0002 a0008c0020t0001g0002	1	414	0.0024	-33	c.218 others(42): Show c.2184_2216delGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCAC	p.Gly others(13): Show p.Gly729_Thr739del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2206/2381	2184/2262	728/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEMP1_chr16_2525035_2536408	2530762	GAGGGCCT others(5): Show GAGGGCCTGGGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19012.hp2 NA19012.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0000 a0005c0004t0001g0000	1	346	0.0029	-12	c.300 others(19): Show c.300_311delGCCCCAGGCCCT	p.Pro others(13): Show p.Pro101_Leu104del	CEMP1	ENSG00000205923.3	transcript	ENST00000567119.1	protein_coding	1/1	646/1374	300/744	100/247		chr16	TogoVar
CEP68_chr2_65051416_65092004	65071512	GAAC GAAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp2 HG01123.hp1 HG01261.hp2 others(16): Show HG01081.hp2 HG01123.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01517.hp1 HG02055.hp2 HG02683.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03471.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp2	a0005 a0005	a0005c0005 a0005c0029 a0005c0005 a0005c0029	a0005c0005t0001 a0005c0005t0005 a0005c0005t0014 others(3): Show a0005c0005t0001 a0005c0005t0005 a0005c0005t0014 a0005c0005t0021 a0005c0005t0022 a0005c0029t0005	a0005c0005t0001g0109 a0005c0005t0001g0112 a0005c0005t0005g0011 others(10): Show a0005c0005t0001g0109 a0005c0005t0001g0112 a0005c0005t0005g0011 a0005c0005t0005g0029 a0005c0005t0005g0030 a0005c0005t0005g0110 a0005c0005t0005g0114 a0005c0005t0005g0115 a0005c0005t0014g0028 a0005c0005t0014g0113 a0005c0005t0021g0111 a0005c0005t0022g0199 a0005c0029t0005g0059	19	358	0.0531	-3	c.423 others(10): Show c.423_425delAAC	p.Thr others(6): Show p.Thr142del	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding	3/7	582/5803	423/2274	141/757	INFO_REALIGN_3_PRIME	chr2	TogoVar
CEP68_chr2_65051416_65092004	65072937	AAGG AAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG02559.hp1 HG02809.hp1 others(2): Show HG02055.hp1 HG02559.hp1 HG02809.hp1 HG02922.hp1 HG03486.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0009 a0007c0008t0001 a0007c0008t0009	a0007c0008t0001g0203 a0007c0008t0009g0010 a0007c0008t0001g0203 a0007c0008t0009g0010	5	358	0.0140	-3	c.184 others(12): Show c.1847_1849delGAG	p.Gly others(6): Show p.Gly616del	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding	3/7	2006/5803	1847/2274	616/757	INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP210_chr2_169640425_169699405	169650384	TTTTCTC TTTTCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03209.hp2 HG03225.hp2 NA20129.hp2 HG03209.hp2 HG03225.hp2 NA20129.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0236 a0007c0009t0001g0237 a0007c0009t0001g0238 a0007c0009t0001g0236 a0007c0009t0001g0237 a0007c0009t0001g0238	3	388	0.0077	-6	c.109 others(15): Show c.1091_1096delGAGAAA	p.Arg others(13): Show p.Arg364_Glu365del	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	7/9	1174/2153	1091/1659	364/552		chr2	TogoVar
CFAP46_chr10_132803392_132947570	132877944	ATTCTCCT others(17): Show ATTCTCCTTCTCTTTACTCCTCTCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp2 HG01069.hp2	a0033 a0033	a0033c0074 a0033c0074	a0033c0074t0002 a0033c0074t0002	a0033c0074t0002g0006 a0033c0074t0002g0006	1	244	0.0041	-24	c.412 others(33): Show c.4125_4148delGGAGAGGAGTAAAGAGAAGGAGAA	p.Lys others(15): Show p.Lys1375_Glu1382del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	30/58	4234/8263	4125/8148	1375/2715		chr10	TogoVar
CFAP74_chr1_1916957_2008786	1923061	GTGTCAAA others(5): Show GTGTCAAACTGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18950.hp2 NA18950.hp2	a0039 a0039	a0039c0088 a0039c0088	a0039c0088t0001 a0039c0088t0001	a0039c0088t0001g0137 a0039c0088t0001g0137	1	276	0.0036	-12	c.459 others(21): Show c.4595_4606delTCCAGTTTGACA	p.Ile others(15): Show p.Ile1532_Asp1535del	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	37/39	4711/5355	4595/4920	1532/1639		chr1	TogoVar
CFAP92_chr3_128904873_128999076	128915468	TTTC TTTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp1 HG01891.hp1 HG02965.hp2 HG00642.hp1 HG01891.hp1 HG02965.hp2	a0004 a0004	a0004c0006 a0004c0021 a0004c0006 a0004c0021	a0004c0006t0001 a0004c0021t0001 a0004c0006t0001 a0004c0021t0001	a0004c0006t0001g0329 a0004c0006t0001g0330 a0004c0021t0001g0328 a0004c0006t0001g0329 a0004c0006t0001g0330 a0004c0021t0001g0328	3	340	0.0088	-3	c.300 others(12): Show c.3009_3011delGAA	p.Lys others(7): Show p.Lys1004del	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	14/16	3140/3870	3009/3315	1003/1104		chr3	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
CHGA_chr14_92918150_92940285	92931578	AGAG AGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp1 HG02809.hp1 NA18971.hp1 others(1): Show HG02717.hp1 HG02809.hp1 NA18971.hp1 NA20300.hp1	a0008 a0008	a0008c0013 a0008c0030 a0008c0031 a0008c0013 a0008c0030 a0008c0031	a0008c0013t0001 a0008c0030t0001 a0008c0031t0001 a0008c0013t0001 a0008c0030t0001 a0008c0031t0001	a0008c0013t0001g0076 a0008c0013t0001g0077 a0008c0030t0001g0002 others(1): Show a0008c0013t0001g0076 a0008c0013t0001g0077 a0008c0030t0001g0002 a0008c0031t0001g0005	4	441	0.0091	-3	c.707 others(10): Show c.707_709delAGG	p.Glu others(6): Show p.Glu236del	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding	6/8	917/1985	707/1374	236/457	INFO_REALIGN_3_PRIME	chr14	TogoVar
CHML_chr1_241623851_241645369	241635368	TTCAGTGA others(23): Show TTCAGTGAAGGTATTAGACACCCCCAAAGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp1 HG02895.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0075 a0008c0009t0002g0075	1	450	0.0022	-30	c.369 others(37): Show c.369_398delTTCTTTGGGGGTGTCTAATACCTTCACTGA	p.Ser others(13): Show p.Ser124_Glu133del	CHML	ENSG00000203668.3	transcript	ENST00000366553.3	protein_coding	2/2	1193/7711	369/1971	123/656		chr1	TogoVar
CIROP_chr14_23094062_23109989	23104886	GGCA GGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(258): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0007 a0014 a0015 a0019	a0001c0001 a0001c0016 a0001c0020 others(15): Show a0001c0001 a0001c0016 a0001c0020 a0001c0023 a0001c0035 a0003c0007 a0003c0008 a0003c0009 a0003c0011 a0005c0005 a0005c0012 a0005c0029 a0005c0030 a0005c0031 a0007c0004 a0014c0021 a0015c0028 a0019c0036	a0001c0001t0001 a0001c0016t0001 a0001c0020t0001 others(16): Show a0001c0001t0001 a0001c0016t0001 a0001c0020t0001 a0001c0023t0001 a0001c0035t0001 a0003c0007t0001 a0003c0008t0003 a0003c0009t0001 a0003c0011t0002 a0005c0005t0002 a0005c0005t0004 a0005c0012t0002 a0005c0029t0002 a0005c0030t0001 a0005c0031t0002 a0007c0004t0001 a0014c0021t0002 a0015c0028t0002 a0019c0036t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0016t0001g0020 a0001c0020t0001g0029 a0001c0020t0001g0047 a0001c0023t0001g0031 a0001c0035t0001g0049 a0003c0007t0001g0008 a0003c0007t0001g0030 a0003c0007t0001g0055 a0003c0008t0003g0010 a0003c0008t0003g0027 a0003c0008t0003g0057 a0003c0008t0003g0058 a0003c0009t0001g0013 a0003c0009t0001g0056 a0003c0011t0002g0016 a0003c0011t0002g0048 a0005c0005t0002g0004 a0005c0005t0002g0041 a0005c0005t0004g0069 a0005c0012t0002g0014 a0005c0029t0002g0039 a0005c0030t0001g0042 a0005c0031t0002g0040 a0007c0004t0001g0003 a0007c0004t0001g0038 a0007c0004t0001g0066 a0007c0004t0001g0067 a0007c0004t0001g0068 a0014c0021t0002g0024 a0015c0028t0002g0037 a0019c0036t0001g0050	261	406	0.6429	-3	c.32_ others(8): Show c.32_34delTGC	p.Leu others(5): Show p.Leu11del	CIROP	ENSG00000283654.3	transcript	ENST00000637218.2	protein_coding	1/16	103/2656	32/2367	11/788		chr14	TogoVar
CIROP_chr14_23094062_23109989	23104886	GGCAGCAG others(8): Show GGCAGCAGCAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp1 HG00558.hp2 HG01109.hp2 others(36): Show HG00423.hp1 HG00558.hp2 HG01109.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 NA18522.hp2 NA18941.hp2 NA18967.hp1 NA18979.hp2 NA18988.hp1 NA19043.hp1 NA19062.hp2 NA19064.hp1 NA20129.hp2	a0004 a0004	a0004c0006 a0004c0014 a0004c0017 others(8): Show a0004c0006 a0004c0014 a0004c0017 a0004c0025 a0004c0026 a0004c0027 a0004c0037 a0004c0038 a0004c0039 a0004c0040 a0004c0041	a0004c0006t0001 a0004c0014t0002 a0004c0017t0001 others(8): Show a0004c0006t0001 a0004c0014t0002 a0004c0017t0001 a0004c0025t0002 a0004c0026t0002 a0004c0027t0001 a0004c0037t0001 a0004c0038t0002 a0004c0039t0001 a0004c0040t0001 a0004c0041t0001	a0004c0006t0001g0006 a0004c0006t0001g0036 a0004c0014t0002g0028 others(10): Show a0004c0006t0001g0006 a0004c0006t0001g0036 a0004c0014t0002g0028 a0004c0014t0002g0032 a0004c0017t0001g0021 a0004c0025t0002g0033 a0004c0026t0002g0034 a0004c0027t0001g0035 a0004c0037t0001g0061 a0004c0038t0002g0063 a0004c0039t0001g0062 a0004c0040t0001g0065 a0004c0041t0001g0064	39	184	0.2120	-15	c.20_ others(20): Show c.20_34delTGCTGCTGCTGCTGC	p.Leu others(10): Show p.Leu7_Leu11del	CIROP	ENSG00000283654.3	transcript	ENST00000637218.2	protein_coding	1/16	103/2656	20/2367	7/788		chr14	TogoVar
CITED2_chr6_139366807_139379648	139373346	TTGCCGC TTGCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp1 HG02895.hp2 HG02896.hp1 HG02451.hp1 HG02895.hp2 HG02896.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0010	3	319	0.0094	-6	c.593 others(13): Show c.593_598delGCGGCA	p.Ser others(13): Show p.Ser198_Gly199del	CITED2	ENSG00000164442.11	transcript	ENST00000367651.4	protein_coding	2/2	842/2382	593/813	198/270		chr6	TogoVar
CITED2_chr6_139366807_139379648	139373408	AGAGCCGC others(20): Show AGAGCCGCCGGGGGTGCTGCTGCCGCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0035 a0004c0007t0002g0035	1	320	0.0031	-27	c.510 others(34): Show c.510_536delGGGCGGCAGCAGCACCCCCGGCGGCTC	p.Gly others(13): Show p.Gly171_Ser179del	CITED2	ENSG00000164442.11	transcript	ENST00000367651.4	protein_coding	2/2	780/2382	510/813	170/270		chr6	TogoVar
CKAP4_chr12_106232881_106253020	106247711	GGGC GGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(260): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0002 a0001c0003 a0001c0004 others(14): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0003c0005 a0004c0006 a0006c0011 a0007c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(54): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0015 a0001c0002t0017 a0001c0002t0021 a0001c0002t0026 a0001c0002t0028 a0001c0002t0037 a0001c0002t0045 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0014 a0001c0003t0019 a0001c0003t0022 a0001c0003t0023 a0001c0003t0024 a0001c0003t0025 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0003t0039 a0001c0003t0042 a0001c0003t0043 a0001c0003t0044 a0001c0004t0009 a0001c0004t0011 a0001c0004t0038 a0001c0004t0040 a0001c0007t0002 a0001c0007t0003 a0001c0009t0001 a0001c0010t0003 a0001c0010t0021 a0001c0010t0029 a0001c0013t0010 a0001c0015t0001 a0001c0016t0002 a0001c0017t0003 a0001c0018t0032 a0001c0019t0014 a0001c0020t0001 a0003c0005t0001 a0003c0005t0003 a0003c0005t0010 a0004c0006t0013 a0004c0006t0020 a0006c0011t0002 a0006c0011t0003 a0007c0012t0004	a0001c0002t0001g0070 a0001c0002t0002g0002 a0001c0002t0002g0004 others(108): Show a0001c0002t0001g0070 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0036 a0001c0002t0002g0047 a0001c0002t0002g0065 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0003g0003 a0001c0002t0003g0034 a0001c0002t0003g0045 a0001c0002t0003g0058 a0001c0002t0003g0066 a0001c0002t0003g0078 a0001c0002t0003g0087 a0001c0002t0003g0105 a0001c0002t0003g0120 a0001c0002t0005g0038 a0001c0002t0015g0037 a0001c0002t0017g0062 a0001c0002t0017g0072 a0001c0002t0021g0089 a0001c0002t0026g0055 a0001c0002t0028g0069 a0001c0002t0037g0071 a0001c0002t0045g0073 a0001c0003t0001g0009 a0001c0003t0001g0020 a0001c0003t0001g0035 a0001c0003t0001g0042 a0001c0003t0001g0095 a0001c0003t0002g0010 a0001c0003t0002g0059 a0001c0003t0002g0104 a0001c0003t0003g0014 a0001c0003t0003g0043 a0001c0003t0003g0091 a0001c0003t0004g0005 a0001c0003t0004g0046 a0001c0003t0004g0067 a0001c0003t0004g0068 a0001c0003t0004g0092 a0001c0003t0006g0008 a0001c0003t0006g0022 a0001c0003t0007g0021 a0001c0003t0007g0041 a0001c0003t0007g0099 a0001c0003t0007g0102 a0001c0003t0008g0013 a0001c0003t0008g0084 a0001c0003t0008g0103 a0001c0003t0010g0118 a0001c0003t0014g0023 a0001c0003t0019g0081 a0001c0003t0019g0085 a0001c0003t0022g0098 a0001c0003t0022g0117 a0001c0003t0023g0040 a0001c0003t0024g0107 a0001c0003t0024g0108 a0001c0003t0025g0044 a0001c0003t0033g0093 a0001c0003t0034g0094 a0001c0003t0035g0096 a0001c0003t0039g0097 a0001c0003t0042g0111 a0001c0003t0043g0112 a0001c0003t0044g0110 a0001c0004t0009g0025 a0001c0004t0009g0048 a0001c0004t0009g0125 a0001c0004t0009g0126 a0001c0004t0011g0024 a0001c0004t0011g0122 a0001c0004t0011g0123 a0001c0004t0038g0121 a0001c0004t0040g0124 a0001c0007t0002g0039 a0001c0007t0002g0063 a0001c0007t0003g0075 a0001c0009t0001g0033 a0001c0009t0001g0057 a0001c0010t0003g0060 a0001c0010t0021g0061 a0001c0010t0029g0100 a0001c0013t0010g0082 a0001c0013t0010g0083 a0001c0015t0001g0101 a0001c0016t0002g0074 a0001c0017t0003g0064 a0001c0018t0032g0106 a0001c0019t0014g0109 a0001c0020t0001g0113 a0003c0005t0001g0019 a0003c0005t0003g0018 a0003c0005t0010g0032 a0004c0006t0013g0026 a0004c0006t0013g0130 a0004c0006t0020g0049 a0006c0011t0002g0128 a0006c0011t0002g0129 a0006c0011t0003g0127 a0007c0012t0004g0031	263	416	0.6322	-3	c.138 others(10): Show c.138_140delGCC	p.Pro others(5): Show p.Pro47del	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding	1/2	309/3121	138/1809	46/602		chr12	TogoVar
CLASRP_chr19_45034045_45075956	45067487	GAGCCGCA others(5): Show GAGCCGCAGCCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA21309.hp1 NA21309.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0113 a0010c0010t0001g0113	1	361	0.0028	-12	c.157 others(21): Show c.1577_1588delGCAGCCGCAGCC	p.Arg others(13): Show p.Arg526_Ser529del	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding	14/21	1670/2229	1577/2025	526/674	INFO_REALIGN_3_PRIME	chr19	TogoVar
CLCA4_chr1_86542078_86585754	86580212	ATCCTACA others(5): Show ATCCTACACCTAC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0017 a0009c0012t0001g0017	1	332	0.0030	-12	c.263 others(21): Show c.2634_2645delACCTACTCCTAC	p.Pro others(13): Show p.Pro879_Thr882del	CLCA4	ENSG00000016602.9	transcript	ENST00000370563.3	protein_coding	14/14	2676/3211	2634/2760	878/919	INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCA4_chr1_86542078_86585754	86580213	TCCTACA TCCTACA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(191): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0008 a0010	a0001c0001 a0001c0005 a0001c0009 others(4): Show a0001c0001 a0001c0005 a0001c0009 a0005c0007 a0006c0006 a0008c0010 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001 a0001c0009t0001 a0005c0007t0001 a0006c0006t0002 a0008c0010t0001 a0010c0014t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(112): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0005g0132 a0001c0005t0001g0020 a0001c0005t0001g0182 a0001c0005t0001g0183 a0001c0009t0001g0003 a0005c0007t0001g0015 a0006c0006t0002g0002 a0006c0006t0002g0086 a0008c0010t0001g0137 a0010c0014t0001g0006	194	332	0.5843	-6	c.263 others(15): Show c.2634_2639delACCTAC	p.Pro others(13): Show p.Pro879_Thr880del	CLCA4	ENSG00000016602.9	transcript	ENST00000370563.3	protein_coding	14/14	2676/3211	2634/2760	878/919	INFO_REALIGN_3_PRIME	chr1	TogoVar
CLEC4M_chr19_7758243_7774605	7765776	AGCTGAAG others(62): Show AGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAG ATCTACCAGGAGCTGACCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00438.hp1 HG00597.hp2 others(49): Show HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00673.hp1 HG01074.hp1 HG01243.hp1 HG01358.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 NA18906.hp1 NA18991.hp2 NA19002.hp2 NA19030.hp2 NA19043.hp1 NA19082.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0003c0005 a0005c0006 a0003c0004 a0003c0005 a0005c0006	a0003c0004t0001 a0003c0004t0003 a0003c0004t0005 others(6): Show a0003c0004t0001 a0003c0004t0003 a0003c0004t0005 a0003c0004t0008 a0003c0005t0001 a0003c0005t0002 a0003c0005t0007 a0003c0005t0009 a0005c0006t0004	a0003c0004t0001g0044 a0003c0004t0003g0012 a0003c0004t0003g0048 others(13): Show a0003c0004t0001g0044 a0003c0004t0003g0012 a0003c0004t0003g0048 a0003c0004t0005g0008 a0003c0004t0005g0043 a0003c0004t0008g0012 a0003c0005t0001g0010 a0003c0005t0001g0058 a0003c0005t0001g0059 a0003c0005t0001g0066 a0003c0005t0001g0074 a0003c0005t0002g0057 a0003c0005t0007g0026 a0003c0005t0009g0021 a0005c0006t0004g0006 a0005c0006t0004g0060	52	427	0.1218	-69	c.558 others(76): Show c.558_626delCCGGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAAT CCAAGCTGCAGGAGATCTACCAGGAGCTGAC	p.Arg others(13): Show p.Arg187_Thr209del	CLEC4M	ENSG00000104938.18	transcript	ENST00000327325.10	protein_coding	4/7	582/1841	558/1200	186/399	INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC4M_chr19_7758243_7774605	7765845	GGCTGAAG others(200): Show GGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAG ATCTACCAGGAGCTGACCCGGCTGAAGGCTGCAGTGGGTGAGTTGCCAGA GAAATCCAAGCTGCAGGAGATCTACCAGGAGCTGACCCGGCTGAAGGCTG CAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAGATCTACCAGGAG CTGACGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG01517.hp1 HG00323.hp1 HG01517.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0015 a0006c0010t0003g0015	2	458	0.0044	-207	c.491 others(7): Show c.491_697del	p.Arg others(13): Show p.Arg164_Thr232del	CLEC4M	ENSG00000104938.18	transcript	ENST00000327325.10	protein_coding	4/7	515/1841	491/1200	164/399	INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC4M_chr19_7758243_7774605	7765914	GGCTGAAG others(131): Show GGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAG ATCTACCAGGAGCTGACCCGGCTGAAGGCTGCAGTGGGTGAGTTGCCAGA GAAATCCAAGCTGCAGGAGATCTACCAGGAGCTGACGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(85): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02809.hp2 HG03098.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA19002.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19074.hp1 NA19079.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA21309.hp2	a0002 a0010 a0012 a0002 a0010 a0012	a0002c0002 a0002c0007 a0002c0013 others(2): Show a0002c0002 a0002c0007 a0002c0013 a0010c0017 a0012c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0012 a0002c0007t0001 a0002c0007t0002 a0002c0013t0002 a0010c0017t0001 a0012c0012t0001	a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0022 others(16): Show a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0016 a0002c0002t0002g0039 a0002c0002t0003g0015 a0002c0002t0003g0034 a0002c0002t0005g0003 a0002c0002t0012g0003 a0002c0007t0001g0032 a0002c0007t0002g0042 a0002c0013t0002g0016 a0010c0017t0001g0003 a0012c0012t0001g0003	88	458	0.1921	-138	c.560 others(7): Show c.560_697del	p.Arg others(13): Show p.Arg187_Thr232del	CLEC4M	ENSG00000104938.18	transcript	ENST00000327325.10	protein_coding	4/7	584/1841	560/1200	187/399	INFO_REALIGN_3_PRIME	chr19	TogoVar
CLIC6_chr21_34663994_34723223	34670163	GGCGTAGA others(23): Show GGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(77): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG02004.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18954.hp1 NA18960.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19063.hp2 NA19065.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0009 others(7): Show a0002c0002 a0002c0004 a0002c0009 a0002c0015 a0002c0019 a0002c0020 a0002c0021 a0002c0022 a0002c0023 a0002c0024	a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 others(26): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0022 a0002c0002t0026 a0002c0002t0036 a0002c0002t0038 a0002c0002t0039 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0061 a0002c0004t0003 a0002c0004t0008 a0002c0004t0010 a0002c0004t0023 a0002c0004t0024 a0002c0009t0030 a0002c0009t0056 a0002c0015t0050 a0002c0019t0003 a0002c0020t0003 a0002c0021t0040 a0002c0022t0018 a0002c0023t0037 a0002c0024t0003	a0002c0002t0003g0009 a0002c0002t0003g0022 a0002c0002t0003g0023 others(67): Show a0002c0002t0003g0009 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0196 a0002c0002t0003g0208 a0002c0002t0003g0211 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0003g0217 a0002c0002t0003g0230 a0002c0002t0004g0002 a0002c0002t0004g0021 a0002c0002t0004g0055 a0002c0002t0004g0189 a0002c0002t0004g0199 a0002c0002t0004g0202 a0002c0002t0004g0204 a0002c0002t0004g0206 a0002c0002t0004g0210 a0002c0002t0004g0216 a0002c0002t0004g0233 a0002c0002t0004g0234 a0002c0002t0004g0239 a0002c0002t0008g0024 a0002c0002t0008g0025 a0002c0002t0008g0221 a0002c0002t0008g0222 a0002c0002t0008g0225 a0002c0002t0008g0226 a0002c0002t0008g0228 a0002c0002t0010g0219 a0002c0002t0015g0009 a0002c0002t0015g0193 a0002c0002t0015g0200 a0002c0002t0015g0203 a0002c0002t0018g0201 a0002c0002t0018g0207 a0002c0002t0022g0220 a0002c0002t0022g0223 a0002c0002t0026g0053 a0002c0002t0036g0009 a0002c0002t0038g0215 a0002c0002t0039g0023 a0002c0002t0041g0227 a0002c0002t0042g0198 a0002c0002t0043g0002 a0002c0002t0061g0054 a0002c0004t0003g0185 a0002c0004t0003g0187 a0002c0004t0003g0188 a0002c0004t0003g0229 a0002c0004t0008g0019 a0002c0004t0010g0184 a0002c0004t0010g0190 a0002c0004t0010g0212 a0002c0004t0023g0020 a0002c0004t0024g0197 a0002c0004t0024g0218 a0002c0009t0030g0050 a0002c0009t0030g0052 a0002c0009t0056g0049 a0002c0015t0050g0051 a0002c0019t0003g0205 a0002c0020t0003g0224 a0002c0021t0040g0237 a0002c0022t0018g0186 a0002c0023t0037g0262 a0002c0024t0003g0209	80	310	0.2581	-30	c.786 others(37): Show c.786_815delGGGGGTCCCGGCGGGGGACAGCGTAGAAGC	p.Gly others(13): Show p.Gly263_Ala272del	CLIC6	ENSG00000159212.13	transcript	ENST00000349499.3	protein_coding	1/6	1181/4197	786/2061	262/686	INFO_REALIGN_3_PRIME	chr21	TogoVar
CLSTN2_chr3_139930185_140582397	140566154	AGAGGAG AGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp2 HG02572.hp2 HG02615.hp2 others(1): Show HG02109.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2	a0004 a0005 a0004 a0005	a0004c0012 a0005c0013 a0004c0012 a0005c0013	a0004c0012t0008 a0005c0013t0008 a0004c0012t0008 a0005c0013t0008	a0004c0012t0008g0014 a0004c0012t0008g0041 a0005c0013t0008g0099 others(1): Show a0004c0012t0008g0014 a0004c0012t0008g0041 a0005c0013t0008g0099 a0005c0013t0008g0105	4	110	0.0364	-6	c.278 others(15): Show c.2781_2786delGGAGGA	p.Glu others(13): Show p.Glu928_Glu929del	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	17/17	2971/14202	2781/2868	927/955	INFO_REALIGN_3_PRIME	chr3	TogoVar
CNGB1_chr16_57877340_57976128	57920517	GGCCGTGG others(5): Show GGCCGTGGAGGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03239.hp1 HG03239.hp1	a0035 a0035	a0035c0057 a0035c0057	a0035c0057t0002 a0035c0057t0002	a0035c0057t0002g0147 a0035c0057t0002g0147	1	358	0.0028	-12	c.165 others(21): Show c.1659_1670delGGCCTCCACGGC	p.Ala others(13): Show p.Ala554_Ala557del	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	19/33	1747/5657	1659/3756	553/1251		chr16	TogoVar
CNPY2_chr12_56304844_56320988	56315173	CAGCAGGG others(8): Show CAGCAGGGCCCCCAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19074.hp1 NA19074.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0021 a0003c0002t0002g0021	1	370	0.0027	-15	c.30_ others(20): Show c.30_44delTCTGGGGGCCCTGCT	p.Leu others(11): Show p.Leu11_Leu15del	CNPY2	ENSG00000257727.6	transcript	ENST00000273308.9	protein_coding	2/6	237/1450	30/549	10/182		chr12	TogoVar
CNPY3_chr6_42924480_42944294	42929619	TTGCTGCT others(5): Show TTGCTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18961.hp1 NA19062.hp1 NA18961.hp1 NA19062.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0002	2	406	0.0049	-12	c.65_ others(17): Show c.65_76delTGCTGCTGCTGC	p.Leu others(11): Show p.Leu22_Leu25del	CNPY3	ENSG00000137161.18	transcript	ENST00000372836.5	protein_coding	1/6	156/1431	65/837	22/278	INFO_REALIGN_3_PRIME	chr6	TogoVar
CNPY4_chr7_100114634_100130508	100124796	CAGGAGG CAGGAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02257.hp2 HG02615.hp2 others(8): Show HG01891.hp2 HG02257.hp2 HG02615.hp2 HG02630.hp2 HG02818.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0044 others(5): Show a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049	11	413	0.0266	-6	c.666 others(13): Show c.666_671delGGAGGA	p.Glu others(13): Show p.Glu223_Glu224del	CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	6/6	777/1478	666/747	222/248	INFO_REALIGN_3_PRIME	chr7	TogoVar
COBL_chr7_51011212_51321809	51030870	GTCT GTCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(101): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00597.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18995.hp2 NA19002.hp2 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 others(28): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0018 a0001c0019 a0001c0020 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0034 a0001c0037 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0052 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(44): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001 a0001c0005t0003 a0001c0005t0008 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0008t0002 a0001c0008t0004 a0001c0009t0001 a0001c0009t0002 a0001c0009t0005 a0001c0010t0001 a0001c0010t0002 a0001c0010t0005 a0001c0010t0007 a0001c0010t0012 a0001c0018t0001 a0001c0018t0003 a0001c0019t0001 a0001c0019t0002 a0001c0020t0001 a0001c0020t0003 a0001c0025t0002 a0001c0026t0001 a0001c0027t0009 a0001c0028t0001 a0001c0029t0003 a0001c0030t0001 a0001c0030t0005 a0001c0032t0004 a0001c0033t0001 a0001c0034t0005 a0001c0037t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0002 a0001c0052t0001 a0001c0062t0004 a0001c0063t0001 a0001c0064t0011 a0001c0065t0001 a0001c0066t0003	a0001c0003t0001g0002 a0001c0003t0001g0003 a0001c0003t0001g0005 others(100): Show a0001c0003t0001g0002 a0001c0003t0001g0003 a0001c0003t0001g0005 a0001c0003t0001g0009 a0001c0003t0001g0024 a0001c0003t0001g0048 a0001c0003t0001g0068 a0001c0003t0001g0084 a0001c0003t0001g0089 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0099 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0123 a0001c0003t0001g0156 a0001c0003t0001g0189 a0001c0003t0001g0191 a0001c0003t0002g0225 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0098 a0001c0005t0001g0085 a0001c0005t0001g0086 a0001c0005t0003g0088 a0001c0005t0003g0102 a0001c0005t0003g0116 a0001c0005t0003g0133 a0001c0005t0003g0149 a0001c0005t0003g0160 a0001c0005t0003g0203 a0001c0005t0008g0166 a0001c0006t0002g0041 a0001c0006t0003g0036 a0001c0006t0003g0037 a0001c0006t0003g0039 a0001c0006t0003g0051 a0001c0006t0003g0120 a0001c0006t0003g0183 a0001c0006t0003g0195 a0001c0007t0001g0106 a0001c0007t0001g0171 a0001c0007t0001g0174 a0001c0007t0001g0175 a0001c0007t0001g0176 a0001c0007t0001g0177 a0001c0007t0001g0178 a0001c0008t0002g0162 a0001c0008t0004g0001 a0001c0008t0004g0103 a0001c0008t0004g0104 a0001c0008t0004g0105 a0001c0008t0004g0107 a0001c0009t0001g0006 a0001c0009t0001g0015 a0001c0009t0001g0018 a0001c0009t0001g0056 a0001c0009t0002g0058 a0001c0009t0002g0075 a0001c0009t0005g0221 a0001c0010t0001g0090 a0001c0010t0001g0128 a0001c0010t0002g0074 a0001c0010t0005g0163 a0001c0010t0007g0012 a0001c0010t0012g0114 a0001c0018t0001g0184 a0001c0018t0003g0143 a0001c0018t0003g0170 a0001c0019t0001g0032 a0001c0019t0001g0033 a0001c0019t0002g0119 a0001c0020t0001g0167 a0001c0020t0003g0034 a0001c0020t0003g0222 a0001c0025t0002g0016 a0001c0025t0002g0097 a0001c0026t0001g0208 a0001c0026t0001g0210 a0001c0027t0009g0076 a0001c0027t0009g0164 a0001c0028t0001g0008 a0001c0028t0001g0127 a0001c0029t0003g0054 a0001c0029t0003g0169 a0001c0030t0001g0113 a0001c0030t0005g0053 a0001c0032t0004g0066 a0001c0033t0001g0065 a0001c0034t0005g0181 a0001c0037t0001g0173 a0001c0046t0001g0049 a0001c0047t0001g0216 a0001c0048t0001g0087 a0001c0049t0001g0047 a0001c0050t0002g0115 a0001c0052t0001g0073 a0001c0062t0004g0007 a0001c0063t0001g0021 a0001c0064t0011g0063 a0001c0065t0001g0060 a0001c0066t0003g0052	104	228	0.4561	-3	c.144 others(12): Show c.1443_1445delAGA	p.Glu others(6): Show p.Glu481del	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	9/13	1621/5301	1443/3786	481/1261		chr7	TogoVar
COL17A1_chr10_104026286_104090880	104043511	TGGAGGTC others(20): Show TGGAGGTCCTGGGGGTCCCATGGCTCCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02602.hp1 HG02602.hp1	a0021 a0021	a0021c0050 a0021c0050	a0021c0050t0003 a0021c0050t0003	a0021c0050t0003g0073 a0021c0050t0003g0073	1	334	0.0030	-27	c.247 others(36): Show c.2478_2504delTGGAGCCATGGGACCCCCAGGACCTCC	p.Gly others(13): Show p.Gly827_Pro835del	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	35/56	2673/5612	2478/4494	826/1497		chr10	TogoVar
COL18A1_chr21_45400165_45518720	45504502	CGGCCCCC others(11): Show CGGCCCCCCCGGCCCCCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp1 HG02922.hp2 HG02257.hp1 HG02922.hp2	a0019 a0025 a0019 a0025	a0019c0067 a0025c0042 a0019c0067 a0025c0042	a0019c0067t0001 a0025c0042t0001 a0019c0067t0001 a0025c0042t0001	a0019c0067t0001g0012 a0025c0042t0001g0035 a0019c0067t0001g0012 a0025c0042t0001g0035	2	290	0.0069	-18	c.282 others(27): Show c.2823_2840delCGGCCCCCCAGGCCCCCC	p.Gly others(13): Show p.Gly942_Pro947del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	34/42	2889/5408	2823/4020	941/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45504511	CGGCCCCC others(2): Show CGGCCCCCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.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 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0022 a0023 a0024 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033	a0001c0001 a0001c0002 a0001c0003 others(92): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0022 a0001c0024 a0001c0025 a0001c0026 a0001c0029 a0001c0031 a0001c0032 a0001c0034 a0001c0035 a0001c0036 a0001c0039 a0001c0043 a0001c0044 a0001c0045 a0001c0051 a0001c0054 a0001c0055 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0066 a0001c0070 a0001c0071 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0084 a0001c0086 a0001c0087 a0001c0090 a0001c0095 a0002c0012 a0002c0020 a0002c0021 a0002c0064 a0002c0080 a0002c0081 a0002c0100 a0003c0023 a0003c0057 a0003c0088 a0003c0096 a0003c0097 a0004c0030 a0004c0033 a0004c0073 a0005c0027 a0005c0053 a0005c0069 a0006c0016 a0007c0018 a0007c0098 a0008c0038 a0008c0101 a0009c0014 a0010c0028 a0011c0049 a0011c0099 a0012c0037 a0013c0062 a0013c0085 a0014c0082 a0015c0068 a0016c0040 a0017c0089 a0018c0072 a0020c0093 a0022c0046 a0023c0047 a0024c0065 a0026c0056 a0027c0083 a0028c0074 a0029c0075 a0030c0041 a0031c0063 a0032c0092 a0033c0094	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(111): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0012 a0001c0002t0017 a0001c0003t0001 a0001c0003t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0005t0007 a0001c0006t0003 a0001c0007t0002 a0001c0008t0002 a0001c0009t0001 a0001c0010t0002 a0001c0010t0006 a0001c0011t0001 a0001c0013t0002 a0001c0013t0014 a0001c0015t0001 a0001c0017t0002 a0001c0017t0003 a0001c0019t0003 a0001c0022t0001 a0001c0024t0001 a0001c0025t0002 a0001c0026t0001 a0001c0029t0002 a0001c0031t0001 a0001c0032t0002 a0001c0034t0001 a0001c0035t0001 a0001c0036t0004 a0001c0039t0001 a0001c0043t0006 a0001c0044t0001 a0001c0045t0001 a0001c0051t0001 a0001c0054t0002 a0001c0055t0003 a0001c0058t0001 a0001c0059t0002 a0001c0060t0001 a0001c0061t0001 a0001c0066t0005 a0001c0070t0003 a0001c0071t0004 a0001c0076t0001 a0001c0077t0004 a0001c0078t0003 a0001c0079t0008 a0001c0084t0001 a0001c0086t0001 a0001c0087t0002 a0001c0090t0001 a0001c0095t0001 a0002c0012t0004 a0002c0020t0001 a0002c0020t0003 a0002c0021t0002 a0002c0064t0001 a0002c0080t0001 a0002c0081t0002 a0002c0100t0001 a0003c0023t0002 a0003c0057t0002 a0003c0088t0001 a0003c0096t0003 a0003c0097t0001 a0004c0030t0002 a0004c0033t0001 a0004c0073t0002 a0005c0027t0003 a0005c0053t0001 a0005c0069t0002 a0006c0016t0001 a0006c0016t0002 a0007c0018t0005 a0007c0098t0005 a0008c0038t0001 a0008c0101t0002 a0009c0014t0001 a0010c0028t0003 a0011c0049t0001 a0011c0099t0004 a0012c0037t0009 a0013c0062t0002 a0013c0085t0002 a0014c0082t0002 a0015c0068t0002 a0016c0040t0001 a0017c0089t0011 a0018c0072t0001 a0020c0093t0015 a0022c0046t0004 a0023c0047t0004 a0024c0065t0010 a0026c0056t0001 a0027c0083t0002 a0028c0074t0003 a0029c0075t0001 a0030c0041t0002 a0031c0063t0010 a0032c0092t0001 a0033c0094t0001	a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0073 others(278): Show a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0282 a0001c0001t0001g0289 a0001c0001t0002g0270 a0001c0001t0004g0109 a0001c0001t0004g0226 a0001c0001t0013g0268 a0001c0002t0001g0016 a0001c0002t0001g0058 a0001c0002t0001g0074 a0001c0002t0002g0031 a0001c0002t0002g0052 a0001c0002t0002g0067 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0086 a0001c0002t0002g0090 a0001c0002t0002g0094 a0001c0002t0002g0101 a0001c0002t0002g0113 a0001c0002t0002g0117 a0001c0002t0002g0120 a0001c0002t0002g0159 a0001c0002t0002g0171 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0234 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0263 a0001c0002t0002g0273 a0001c0002t0003g0123 a0001c0002t0006g0236 a0001c0002t0012g0088 a0001c0002t0017g0220 a0001c0003t0001g0013 a0001c0003t0001g0041 a0001c0003t0001g0049 a0001c0003t0001g0065 a0001c0003t0001g0069 a0001c0003t0001g0092 a0001c0003t0001g0156 a0001c0003t0001g0167 a0001c0003t0001g0179 a0001c0003t0001g0190 a0001c0003t0001g0192 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0225 a0001c0003t0001g0228 a0001c0003t0001g0252 a0001c0003t0001g0257 a0001c0003t0001g0259 a0001c0003t0001g0261 a0001c0003t0001g0284 a0001c0003t0016g0185 a0001c0004t0001g0008 a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0079 a0001c0004t0001g0089 a0001c0004t0001g0140 a0001c0004t0001g0149 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0181 a0001c0004t0001g0196 a0001c0004t0001g0218 a0001c0004t0001g0224 a0001c0004t0001g0253 a0001c0004t0001g0278 a0001c0004t0001g0286 a0001c0004t0001g0288 a0001c0004t0003g0265 a0001c0004t0008g0125 a0001c0005t0002g0048 a0001c0005t0002g0146 a0001c0005t0002g0221 a0001c0005t0002g0227 a0001c0005t0002g0235 a0001c0005t0002g0242 a0001c0005t0002g0272 a0001c0005t0003g0213 a0001c0005t0006g0157 a0001c0005t0006g0222 a0001c0005t0007g0254 a0001c0005t0007g0255 a0001c0006t0003g0057 a0001c0006t0003g0153 a0001c0006t0003g0160 a0001c0006t0003g0204 a0001c0006t0003g0215 a0001c0006t0003g0283 a0001c0006t0003g0285 a0001c0007t0002g0056 a0001c0007t0002g0133 a0001c0007t0002g0165 a0001c0007t0002g0197 a0001c0007t0002g0210 a0001c0007t0002g0223 a0001c0008t0002g0243 a0001c0008t0002g0260 a0001c0008t0002g0262 a0001c0008t0002g0264 a0001c0008t0002g0291 a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 a0001c0009t0001g0247 a0001c0010t0002g0046 a0001c0010t0002g0138 a0001c0010t0002g0152 a0001c0010t0006g0014 a0001c0011t0001g0009 a0001c0011t0001g0177 a0001c0011t0001g0178 a0001c0011t0001g0187 a0001c0013t0002g0102 a0001c0013t0002g0208 a0001c0013t0002g0209 a0001c0013t0014g0212 a0001c0015t0001g0128 a0001c0015t0001g0172 a0001c0015t0001g0202 a0001c0017t0002g0158 a0001c0017t0003g0207 a0001c0017t0003g0280 a0001c0019t0003g0042 a0001c0019t0003g0119 a0001c0019t0003g0150 a0001c0022t0001g0007 a0001c0022t0001g0111 a0001c0022t0001g0184 a0001c0024t0001g0232 a0001c0024t0001g0290 a0001c0025t0002g0132 a0001c0025t0002g0147 a0001c0026t0001g0182 a0001c0026t0001g0183 a0001c0029t0002g0276 a0001c0029t0002g0277 a0001c0031t0001g0130 a0001c0031t0001g0134 a0001c0032t0002g0077 a0001c0032t0002g0129 a0001c0034t0001g0050 a0001c0034t0001g0051 a0001c0035t0001g0033 a0001c0035t0001g0145 a0001c0036t0004g0018 a0001c0036t0004g0019 a0001c0039t0001g0143 a0001c0043t0006g0245 a0001c0044t0001g0002 a0001c0045t0001g0047 a0001c0051t0001g0248 a0001c0054t0002g0169 a0001c0055t0003g0139 a0001c0058t0001g0287 a0001c0059t0002g0076 a0001c0060t0001g0142 a0001c0061t0001g0032 a0001c0066t0005g0036 a0001c0070t0003g0026 a0001c0071t0004g0168 a0001c0076t0001g0043 a0001c0077t0004g0027 a0001c0078t0003g0141 a0001c0079t0008g0189 a0001c0084t0001g0023 a0001c0086t0001g0098 a0001c0087t0002g0068 a0001c0090t0001g0251 a0001c0095t0001g0006 a0002c0012t0004g0029 a0002c0012t0004g0039 a0002c0012t0004g0180 a0002c0012t0004g0188 a0002c0020t0001g0010 a0002c0020t0001g0011 a0002c0020t0003g0144 a0002c0021t0002g0001 a0002c0021t0002g0135 a0002c0021t0002g0166 a0002c0064t0001g0040 a0002c0080t0001g0240 a0002c0081t0002g0214 a0002c0100t0001g0116 a0003c0023t0002g0118 a0003c0023t0002g0131 a0003c0057t0002g0028 a0003c0088t0001g0024 a0003c0096t0003g0020 a0003c0097t0001g0037 a0004c0030t0002g0103 a0004c0030t0002g0148 a0004c0033t0001g0121 a0004c0033t0001g0275 a0004c0073t0002g0274 a0005c0027t0003g0030 a0005c0027t0003g0233 a0005c0053t0001g0061 a0005c0069t0002g0060 a0006c0016t0001g0062 a0006c0016t0001g0211 a0006c0016t0002g0292 a0007c0018t0005g0045 a0007c0018t0005g0110 a0007c0018t0005g0112 a0007c0098t0005g0017 a0008c0038t0001g0054 a0008c0038t0001g0174 a0008c0101t0002g0003 a0009c0014t0001g0258 a0009c0014t0001g0266 a0009c0014t0001g0271 a0010c0028t0003g0229 a0010c0028t0003g0230 a0011c0049t0001g0198 a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201 a0013c0062t0002g0075 a0013c0085t0002g0005 a0014c0082t0002g0085 a0015c0068t0002g0114 a0016c0040t0001g0095 a0017c0089t0011g0193 a0018c0072t0001g0097 a0020c0093t0015g0173 a0022c0046t0004g0164 a0023c0047t0004g0163 a0024c0065t0010g0004 a0026c0056t0001g0091 a0027c0083t0002g0154 a0028c0074t0003g0078 a0029c0075t0001g0096 a0030c0041t0002g0015 a0031c0063t0010g0044 a0032c0092t0001g0124 a0033c0094t0001g0034	281	288	0.9757	-9	c.283 others(18): Show c.2838_2846delCCCAGGCCC	p.Pro others(13): Show p.Pro947_Pro949del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	34/42	2904/5408	2838/4020	946/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45504511	CGGCCCCC others(11): Show CGGCCCCCCAGGCCCCCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG02717.hp1 HG00140.hp2 HG02717.hp1	a0001 a0021 a0001 a0021	a0001c0052 a0021c0091 a0001c0052 a0021c0091	a0001c0052t0002 a0021c0091t0011 a0001c0052t0002 a0021c0091t0011	a0001c0052t0002g0055 a0021c0091t0011g0053 a0001c0052t0002g0055 a0021c0091t0011g0053	2	9	0.2222	-18	c.282 others(27): Show c.2829_2846delCCCAGGCCCCCCAGGCCC	p.Pro others(13): Show p.Pro944_Pro949del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	34/42	2895/5408	2829/4020	943/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL2A1_chr12_47967967_48009476	47978636	GGGTCCAG others(5): Show GGGTCCAGCAGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18992.hp1 NA18992.hp1	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0002 a0014c0032t0002	a0014c0032t0002g0081 a0014c0032t0002g0081	1	412	0.0024	-12	c.284 others(21): Show c.2844_2855delTCCTGCTGGACC	p.Pro others(13): Show p.Pro949_Pro952del	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	42/54	3010/5059	2844/4464	948/1487		chr12	TogoVar
COL6A3_chr2_237319018_237419164	237336220	TGCA TGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00438.hp2 HG01243.hp2 others(5): Show HG00140.hp2 HG00438.hp2 HG01243.hp2 HG01433.hp1 HG02451.hp2 NA18942.hp2 NA18983.hp2 NA19063.hp2	a0007 a0063 a0066 a0007 a0063 a0066	a0007c0011 a0007c0030 a0063c0049 others(1): Show a0007c0011 a0007c0030 a0063c0049 a0066c0057	a0007c0011t0001 a0007c0030t0001 a0063c0049t0001 others(1): Show a0007c0011t0001 a0007c0030t0001 a0063c0049t0001 a0066c0057t0001	a0007c0011t0001g0264 a0007c0011t0001g0290 a0007c0011t0001g0291 others(5): Show a0007c0011t0001g0264 a0007c0011t0001g0290 a0007c0011t0001g0291 a0007c0011t0001g0308 a0007c0030t0001g0048 a0007c0030t0001g0240 a0063c0049t0001g0276 a0066c0057t0001g0055	8	320	0.0250	-3	c.887 others(12): Show c.8877_8879delTGC	p.Ala others(7): Show p.Ala2960del	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	40/44	9121/10532	8877/9534	2959/3177		chr2	TogoVar
COL8A1_chr3_99633594_99804217	99795590	CCCTCCAG others(2): Show CCCTCCAGGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp1 HG02630.hp2 HG03139.hp1 others(2): Show HG02109.hp1 HG02630.hp2 HG03139.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0024 a0001c0002t0008 a0001c0002t0024	a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 others(2): Show a0001c0002t0008g0039 a0001c0002t0008g0040 a0001c0002t0008g0041 a0001c0002t0008g0042 a0001c0002t0024g0197	5	260	0.0192	-9	c.170 others(18): Show c.1701_1709delTCCAGGACC	p.Pro others(13): Show p.Pro568_Pro570del	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	4/4	1900/5515	1701/2235	567/744	INFO_REALIGN_3_PRIME	chr3	TogoVar
COMMD2_chr3_149733472_149757489	149750756	TTTTCTGT others(20): Show TTTTCTGTTGTCCAGATAAAGCTGAAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02738.hp1 HG02738.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0095 a0004c0005t0001g0095	1	422	0.0024	-27	c.297 others(34): Show c.297_323delGCTTCAGCTTTATCTGGACAACAGAAA	p.Leu others(13): Show p.Leu100_Lys108del	COMMD2	ENSG00000114744.9	transcript	ENST00000473414.6	protein_coding	4/5	368/3694	297/600	99/199		chr3	TogoVar
CPEB2_chr4_14997481_15075151	15003704	GCCCGGAC others(8): Show GCCCGGACCTTCCACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01433.hp2 HG02523.hp1 NA18972.hp2 others(2): Show HG01433.hp2 HG02523.hp1 NA18972.hp2 NA18982.hp1 NA19002.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0004 a0012c0014t0004	a0012c0014t0004g0003 a0012c0014t0004g0034 a0012c0014t0004g0171 a0012c0014t0004g0003 a0012c0014t0004g0034 a0012c0014t0004g0171	5	286	0.0175	-15	c.103 others(24): Show c.1037_1051delACCTTCCACACCCGG	p.Asp others(13): Show p.Asp346_Pro350del	CPEB2	ENSG00000137449.17	transcript	ENST00000538197.7	protein_coding	1/12	1230/7069	1037/3105	346/1034	INFO_REALIGN_3_PRIME	chr4	TogoVar
CREB3L2_chr7_137869979_138007086	137928167	CTGG CTGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(193): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0004t0001 a0001c0004t0008 a0001c0004t0010 a0001c0004t0016 a0001c0004t0017 a0001c0004t0019 a0001c0004t0021 a0001c0004t0030 a0001c0004t0031 a0001c0004t0033 a0001c0004t0048 a0001c0004t0056 a0001c0004t0059 a0001c0004t0067 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0009 a0001c0005t0014 a0001c0005t0029 a0001c0005t0050 a0001c0007t0009 a0001c0007t0015 a0001c0007t0019 a0001c0007t0023 a0001c0007t0028 a0001c0007t0066 a0001c0009t0011 a0001c0010t0003 a0001c0011t0012	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(191): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0060 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0158 a0001c0001t0002g0202 a0001c0001t0002g0221 a0001c0001t0002g0261 a0001c0001t0003g0013 a0001c0001t0003g0052 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0095 a0001c0001t0003g0151 a0001c0001t0003g0156 a0001c0001t0003g0187 a0001c0001t0003g0194 a0001c0001t0003g0223 a0001c0001t0003g0238 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0004g0153 a0001c0001t0004g0167 a0001c0001t0004g0214 a0001c0001t0004g0251 a0001c0001t0005g0003 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0005g0030 a0001c0001t0005g0036 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0225 a0001c0001t0006g0021 a0001c0001t0006g0108 a0001c0001t0006g0117 a0001c0001t0006g0207 a0001c0001t0006g0267 a0001c0001t0007g0025 a0001c0001t0007g0029 a0001c0001t0007g0054 a0001c0001t0007g0074 a0001c0001t0007g0076 a0001c0001t0007g0099 a0001c0001t0008g0010 a0001c0001t0008g0040 a0001c0001t0008g0056 a0001c0001t0008g0232 a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0001t0009g0179 a0001c0001t0011g0130 a0001c0001t0011g0137 a0001c0001t0012g0085 a0001c0001t0012g0141 a0001c0001t0012g0145 a0001c0001t0012g0210 a0001c0001t0013g0073 a0001c0001t0014g0174 a0001c0001t0016g0032 a0001c0001t0016g0086 a0001c0001t0020g0140 a0001c0001t0020g0275 a0001c0001t0020g0278 a0001c0001t0024g0002 a0001c0001t0025g0088 a0001c0001t0026g0177 a0001c0001t0026g0234 a0001c0001t0027g0256 a0001c0001t0028g0031 a0001c0001t0029g0154 a0001c0001t0032g0233 a0001c0001t0037g0247 a0001c0001t0038g0148 a0001c0001t0039g0072 a0001c0001t0040g0209 a0001c0001t0045g0198 a0001c0001t0046g0277 a0001c0001t0047g0236 a0001c0001t0049g0211 a0001c0001t0051g0114 a0001c0001t0053g0274 a0001c0001t0055g0023 a0001c0001t0057g0138 a0001c0001t0058g0218 a0001c0001t0063g0254 a0001c0001t0064g0084 a0001c0001t0068g0283 a0001c0004t0001g0230 a0001c0004t0008g0162 a0001c0004t0010g0058 a0001c0004t0010g0067 a0001c0004t0010g0149 a0001c0004t0010g0276 a0001c0004t0010g0279 a0001c0004t0016g0046 a0001c0004t0017g0127 a0001c0004t0019g0027 a0001c0004t0019g0132 a0001c0004t0021g0047 a0001c0004t0030g0048 a0001c0004t0030g0280 a0001c0004t0031g0009 a0001c0004t0031g0055 a0001c0004t0033g0004 a0001c0004t0048g0026 a0001c0004t0056g0090 a0001c0004t0059g0205 a0001c0004t0067g0285 a0001c0005t0001g0096 a0001c0005t0001g0139 a0001c0005t0001g0258 a0001c0005t0002g0102 a0001c0005t0004g0065 a0001c0005t0004g0129 a0001c0005t0009g0037 a0001c0005t0014g0200 a0001c0005t0029g0229 a0001c0005t0050g0235 a0001c0007t0009g0228 a0001c0007t0015g0142 a0001c0007t0019g0043 a0001c0007t0023g0042 a0001c0007t0028g0082 a0001c0007t0066g0126 a0001c0009t0011g0222 a0001c0010t0003g0049 a0001c0011t0012g0107	196	286	0.6853	-3	c.299 others(10): Show c.299_301delCCA	p.Thr others(6): Show p.Thr100del	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/12	682/7441	299/1563	100/520		chr7	TogoVar
CRLF1_chr19_18588237_18611799	18606579	GAGC GAGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(153): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03490.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0007 others(2): Show a0002c0002 a0002c0003 a0002c0007 a0002c0009 a0002c0010	a0002c0002t0001 a0002c0003t0001 a0002c0007t0001 others(2): Show a0002c0002t0001 a0002c0003t0001 a0002c0007t0001 a0002c0009t0001 a0002c0010t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 others(43): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0016 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0027 a0002c0003t0001g0045 a0002c0003t0001g0049 a0002c0003t0001g0051 a0002c0003t0001g0072 a0002c0003t0001g0077 a0002c0007t0001g0060 a0002c0007t0001g0061 a0002c0009t0001g0053 a0002c0010t0001g0065	156	406	0.3842	-3	c.75_ others(8): Show c.75_77delGCT	p.Leu others(5): Show p.Leu26del	CRLF1	ENSG00000006016.12	transcript	ENST00000392386.8	protein_coding	1/9	220/1741	75/1269	25/422		chr19	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

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