Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(44): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02818.hp2 HG03471.hp2 HG06807.hp2 others(2): Show HG02818.hp2 HG03471.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2	a0024 a0043 a0024 a0043	a0024c0028 a0043c0049 a0024c0028 a0043c0049	a0024c0028t0023 a0024c0028t0037 a0024c0028t0048 others(1): Show a0024c0028t0023 a0024c0028t0037 a0024c0028t0048 a0043c0049t0084	a0024c0028t0023g0004 a0024c0028t0037g0026 a0024c0028t0048g0380 others(1): Show a0024c0028t0023g0004 a0024c0028t0037g0026 a0024c0028t0048g0380 a0043c0049t0084g0118	5	402	0.0124	51	c.915 others(58): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAG	p.Gln others(64): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(47): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01069.hp2 HG01071.hp1 HG02965.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG02965.hp1 NA19043.hp2	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0013 a0019c0022t0014 a0019c0022t0031 a0019c0022t0013 a0019c0022t0014 a0019c0022t0031	a0019c0022t0013g0130 a0019c0022t0014g0113 a0019c0022t0014g0115 others(1): Show a0019c0022t0013g0130 a0019c0022t0014g0113 a0019c0022t0014g0115 a0019c0022t0031g0155	4	402	0.0100	54	c.915 others(61): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAG	p.Gln others(67): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(50): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp2 HG02145.hp1 HG02280.hp2 others(6): Show HG02055.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02922.hp1 HG03098.hp1 NA18906.hp1 NA19030.hp2	a0017 a0025 a0017 a0025	a0017c0019 a0025c0027 a0017c0019 a0025c0027	a0017c0019t0013 a0017c0019t0031 a0017c0019t0088 others(4): Show a0017c0019t0013 a0017c0019t0031 a0017c0019t0088 a0025c0027t0023 a0025c0027t0030 a0025c0027t0050 a0025c0027t0100	a0017c0019t0013g0156 a0017c0019t0013g0157 a0017c0019t0013g0159 others(6): Show a0017c0019t0013g0156 a0017c0019t0013g0157 a0017c0019t0013g0159 a0017c0019t0031g0154 a0017c0019t0088g0189 a0025c0027t0023g0384 a0025c0027t0030g0389 a0025c0027t0050g0385 a0025c0027t0100g0313	9	402	0.0224	57	c.915 others(64): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAG	p.Gln others(70): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(53): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01175.hp2 HG02451.hp2 HG02895.hp1 HG01175.hp2 HG02451.hp2 HG02895.hp1	a0029 a0052 a0029 a0052	a0029c0035 a0052c0062 a0029c0035 a0052c0062	a0029c0035t0013 a0029c0035t0085 a0052c0062t0006 a0029c0035t0013 a0029c0035t0085 a0052c0062t0006	a0029c0035t0013g0158 a0029c0035t0085g0195 a0052c0062t0006g0013 a0029c0035t0013g0158 a0029c0035t0085g0195 a0052c0062t0006g0013	3	402	0.0075	60	c.915 others(67): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAG	p.Gln others(73): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(56): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02486.hp2 HG02896.hp2 HG02486.hp2 HG02896.hp2	a0044 a0053 a0044 a0053	a0044c0047 a0053c0061 a0044c0047 a0053c0061	a0044c0047t0087 a0053c0061t0006 a0044c0047t0087 a0053c0061t0006	a0044c0047t0087g0191 a0053c0061t0006g0368 a0044c0047t0087g0191 a0053c0061t0006g0368	2	402	0.0050	63	c.915 others(70): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(76): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071010	C C	CCTGCTGC others(59): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03225.hp1 HG03225.hp1	a0045 a0045	a0045c0045 a0045c0045	a0045c0045t0086 a0045c0045t0086	a0045c0045t0086g0190 a0045c0045t0086g0190	1	402	0.0025	66	c.915 others(73): Show c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAG	p.Gln others(79): Show p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGl nGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	945/6884	915/1086	305/361		chr14	TogoVar
B3GALT6_chr1_1227237_1240041	1232289	T T	TGCGGCGG others(8): Show TGCGGCGGGCGTGGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02622.hp2 HG02895.hp2 HG02897.hp1 HG02622.hp2 HG02895.hp2 HG02897.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	3	366	0.0082	15	c.22_ others(20): Show c.22_36dupTGGCGGCGGCGGGCG	p.Trp others(10): Show p.Trp8_Ala12dup	B3GALT6	ENSG00000176022.7	transcript	ENST00000379198.5	protein_coding	1/1	79/2805	37/990	13/329	INFO_REALIGN_3_PRIME	chr1	TogoVar
BAIAP2L2_chr22_38079900_38115684	38087148	T T	TTCATGGG others(2): Show TTCATGGGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG01071.hp1 NA19077.hp2 HG00099.hp1 HG01071.hp1 NA19077.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0004 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0001g0004 a0003c0003t0002g0017 a0003c0003t0002g0018	3	18	0.1667	9	c.122 others(18): Show c.1226_1234dupCACCCATGA	p.Thr others(13): Show p.Thr409_Met411dup	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	11/14	1393/2149	1234/1590	412/529		chr22	TogoVar
BAIAP2L2_chr22_38079900_38115684	38087148	T T	TTCATGGG others(11): Show TTCATGGGTGTCATGGGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20905.hp2 NA20905.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0002 a0007c0005t0002	a0007c0005t0002g0016 a0007c0005t0002g0016	1	18	0.0556	18	c.123 others(27): Show c.1234_1235insCACCCATGACACCCATGA	p.Met others(31): Show p.Met411_Asn412insThrProMetThrProMet	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	11/14	1393/2149	1234/1590	412/529		chr22	TogoVar
BAIAP2L2_chr22_38079900_38115684	38087167	A A	ACATGGAG others(2): Show ACATGGAGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp1 HG01168.hp2 HG01081.hp1 HG01168.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0007 a0004c0004t0001g0013 a0004c0004t0001g0007 a0004c0004t0001g0013	2	18	0.1111	9	c.120 others(18): Show c.1207_1215dupACCTCCATG	p.Met others(22): Show p.Met405_Ser406insThrSerMet	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	11/14	1374/2149	1215/1590	405/529		chr22	TogoVar
BATF3_chr1_212681417_212704840	212699677	T T	TGCTGCG TGCTGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02895.hp1 HG02897.hp1 HG03041.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0070 a0003c0004t0001g0239 a0003c0004t0001g0070 a0003c0004t0001g0239	3	462	0.0065	6	c.80_ others(11): Show c.80_85dupCGCAGC	p.Pro others(11): Show p.Pro27_Gln28dup	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	1/3	163/836	85/384	29/127		chr1	TogoVar
BEGAIN_chr14_100532147_100592417	100538903	T T	TGGAAGCC others(5): Show TGGAAGCCCGCCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18942.hp2 NA18942.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0079 a0004c0014t0001g0079	1	326	0.0031	12	c.893 others(19): Show c.893_904dupCGGCGGGCTTCC	p.Pro others(13): Show p.Pro298_Phe301dup	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	7/7	1031/2788	904/1839	302/612		chr14	TogoVar
BHLHE22_chr8_64575365_64588627	64581450	T T	TAGCGGC TAGCGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp1 HG01175.hp1 HG01884.hp2 others(8): Show HG01167.hp1 HG01175.hp1 HG01884.hp2 HG01934.hp2 HG02109.hp1 HG02630.hp1 HG02698.hp2 HG02886.hp2 HG03225.hp2 HG04115.hp1 NA20805.hp2	a0005 a0007 a0005 a0007	a0005c0005 a0007c0007 a0005c0005 a0007c0007	a0005c0005t0004 a0007c0007t0004 a0005c0005t0004 a0007c0007t0004	a0005c0005t0004g0000 a0007c0007t0004g0000 a0005c0005t0004g0000 a0007c0007t0004g0000	11	432	0.0255	6	c.667 others(13): Show c.667_672dupAGCGGC	p.Ser others(13): Show p.Ser223_Gly224dup	BHLHE22	ENSG00000180828.3	transcript	ENST00000321870.3	protein_coding	1/1	1099/3263	673/1146	225/381	INFO_REALIGN_3_PRIME	chr8	TogoVar
BHLHE23_chr20_63000927_63011964	63006440	C C	CGCG CGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02886.hp2 NA18939.hp1 NA18992.hp2 HG02886.hp2 NA18939.hp1 NA18992.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	3	446	0.0067	3	c.332 others(10): Show c.332_334dupCGC	p.Pro others(6): Show p.Pro111dup	BHLHE23	ENSG00000125533.6	transcript	ENST00000612929.2	protein_coding	1/1	524/1038	334/726	112/241		chr20	TogoVar
BHLHE41_chr12_26115030_26130037	26122638	G G	GGCCGCCG others(5): Show GGCCGCCGCCGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01978.hp1 HG01978.hp2 HG01978.hp1 HG01978.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0016 a0005c0007t0001g0016	2	422	0.0047	12	c.865 others(19): Show c.865_876dupAGCGGCGGCGGC	p.Gly others(25): Show p.Gly292_Pro293insSerGlyGlyGly	BHLHE41	ENSG00000123095.6	transcript	ENST00000242728.5	protein_coding	5/5	1134/3743	876/1449	292/482		chr12	TogoVar
BOD1L1_chr4_13563738_13632725	13599332	A A	ATGC ATGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01243.hp2 HG02723.hp1 HG02895.hp1 others(4): Show HG01243.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1	a0006 a0028 a0006 a0028	a0006c0007 a0006c0015 a0028c0030 a0006c0007 a0006c0015 a0028c0030	a0006c0007t0001 a0006c0015t0001 a0028c0030t0001 a0006c0007t0001 a0006c0015t0001 a0028c0030t0001	a0006c0007t0001g0149 a0006c0007t0001g0150 a0006c0007t0001g0153 others(4): Show a0006c0007t0001g0149 a0006c0007t0001g0150 a0006c0007t0001g0153 a0006c0007t0001g0154 a0006c0007t0001g0156 a0006c0015t0001g0151 a0028c0030t0001g0152	7	258	0.0271	3	c.756 others(12): Show c.7565_7567dupGCA	p.Ser others(7): Show p.Ser2522dup	BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	10/26	7705/10567	7567/9156	2523/3051		chr4	TogoVar
BPTF_chr17_67820503_67989378	67959642	T T	TCCTCCAG others(2): Show TCCTCCAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(104): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01109.hp2 HG01169.hp1 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0006 a0007 a0009 a0015	a0002c0002 a0002c0006 a0002c0014 others(8): Show a0002c0002 a0002c0006 a0002c0014 a0002c0027 a0004c0007 a0004c0026 a0005c0008 a0006c0010 a0007c0011 a0009c0022 a0015c0012	a0002c0002t0002 a0002c0002t0007 a0002c0006t0002 others(9): Show a0002c0002t0002 a0002c0002t0007 a0002c0006t0002 a0002c0014t0002 a0002c0027t0002 a0004c0007t0002 a0004c0026t0002 a0005c0008t0002 a0006c0010t0002 a0007c0011t0002 a0009c0022t0002 a0015c0012t0002	a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0181 others(104): Show a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0007g0249 a0002c0006t0002g0004 a0002c0006t0002g0005 a0002c0006t0002g0008 a0002c0006t0002g0009 a0002c0006t0002g0010 a0002c0006t0002g0011 a0002c0006t0002g0012 a0002c0014t0002g0006 a0002c0027t0002g0198 a0004c0007t0002g0069 a0004c0007t0002g0073 a0004c0007t0002g0074 a0004c0007t0002g0075 a0004c0007t0002g0078 a0004c0007t0002g0259 a0004c0026t0002g0072 a0005c0008t0002g0002 a0005c0008t0002g0101 a0005c0008t0002g0102 a0005c0008t0002g0103 a0006c0010t0002g0013 a0006c0010t0002g0107 a0007c0011t0002g0180 a0009c0022t0002g0189 a0015c0012t0002g0238	107	274	0.3905	9	c.804 others(18): Show c.8044_8052dupGCCCCTCCA	p.Ala others(15): Show p.Ala2682_Pro2684dup	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	24/28	8275/11075	8053/8763	2685/2920	INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67959642	T T	TCCTCCAG others(11): Show TCCTCCAGCCCCTCCAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20805.hp1 NA20805.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0208 a0012c0018t0002g0208	1	274	0.0037	18	c.803 others(27): Show c.8035_8052dupGCCCCTCCAGCCCCTCCA	p.Ala others(15): Show p.Ala2679_Pro2684dup	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	24/28	8275/11075	8053/8763	2685/2920	INFO_REALIGN_3_PRIME	chr17	TogoVar
BRD4_chr19_15230519_15337539	15243145	G G	GGCGGCTG others(8): Show GGCGGCTGCTGCTGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0005 a0011c0027t0005	a0011c0027t0005g0056 a0011c0027t0005g0056	1	208	0.0048	15	c.290 others(24): Show c.2909_2923dupTGCAGCAGCAGCCGC	p.Leu others(13): Show p.Leu970_Pro974dup	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	14/20	3207/7231	2923/4089	975/1362		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015418	A A	AGTTGTAC others(14): Show AGTTGTACGCGGCCTCGCGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02074.hp2 HG02074.hp2	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0002 a0009c0030t0002	a0009c0030t0002g0114 a0009c0030t0002g0114	1	364	0.0028	21	c.265 others(28): Show c.265_285dupCAGCGCGAGGCCGCGTACAAC	p.Asn others(32): Show p.Asn95_Trp96insGlnArgGluAlaAlaTyrAsn	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding	1/9	296/2629	285/1578	95/525		chr19	TogoVar
BTN2A1_chr6_26452955_26474637	26458677	C C	CCCT CCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG01884.hp1 HG02896.hp2 HG02897.hp2 HG03225.hp2 NA19030.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0002 a0005c0009t0001g0030 a0005c0009t0001g0002 a0005c0009t0001g0030	5	420	0.0119	3	c.58_ others(8): Show c.58_60dupCTC	p.Leu others(5): Show p.Leu20dup	BTN2A1	ENSG00000112763.17	transcript	ENST00000312541.10	protein_coding	2/8	279/2890	61/1584	21/527	INFO_REALIGN_3_PRIME	chr6	TogoVar
C12orf56_chr12_64259762_64395758	64318766	A A	AGTT AGTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(136): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0002 a0002c0005 a0002c0009 others(4): Show a0002c0002 a0002c0005 a0002c0009 a0003c0004 a0003c0012 a0005c0013 a0006c0014	a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 others(14): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0002t0018 a0002c0005t0005 a0002c0005t0006 a0002c0005t0013 a0002c0005t0015 a0002c0009t0002 a0002c0009t0012 a0003c0004t0001 a0003c0004t0003 a0003c0004t0011 a0003c0012t0002 a0005c0013t0001 a0006c0014t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(136): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0076 a0002c0002t0001g0117 a0002c0002t0001g0127 a0002c0002t0001g0134 a0002c0002t0001g0141 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0156 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0177 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0189 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0214 a0002c0002t0001g0221 a0002c0002t0001g0258 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0014 a0002c0002t0003g0020 a0002c0002t0003g0045 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0062 a0002c0002t0003g0064 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0116 a0002c0002t0003g0151 a0002c0002t0003g0197 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0232 a0002c0002t0009g0002 a0002c0002t0010g0003 a0002c0002t0018g0309 a0002c0005t0005g0145 a0002c0005t0005g0157 a0002c0005t0005g0179 a0002c0005t0005g0180 a0002c0005t0005g0185 a0002c0005t0005g0186 a0002c0005t0005g0263 a0002c0005t0005g0264 a0002c0005t0005g0274 a0002c0005t0005g0282 a0002c0005t0005g0288 a0002c0005t0005g0308 a0002c0005t0006g0173 a0002c0005t0006g0178 a0002c0005t0013g0121 a0002c0005t0015g0124 a0002c0009t0002g0149 a0002c0009t0002g0290 a0002c0009t0012g0168 a0003c0004t0001g0009 a0003c0004t0001g0080 a0003c0004t0001g0102 a0003c0004t0001g0109 a0003c0004t0001g0192 a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0251 a0003c0004t0001g0254 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0272 a0003c0004t0001g0287 a0003c0004t0001g0301 a0003c0004t0001g0303 a0003c0004t0003g0036 a0003c0004t0003g0075 a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0003g0113 a0003c0004t0003g0114 a0003c0004t0003g0154 a0003c0004t0003g0158 a0003c0004t0003g0195 a0003c0004t0003g0209 a0003c0004t0003g0245 a0003c0004t0003g0256 a0003c0004t0003g0259 a0003c0004t0003g0261 a0003c0004t0003g0262 a0003c0004t0003g0273 a0003c0004t0003g0275 a0003c0004t0003g0277 a0003c0004t0003g0279 a0003c0004t0003g0280 a0003c0004t0003g0283 a0003c0004t0003g0285 a0003c0004t0003g0299 a0003c0004t0003g0300 a0003c0004t0003g0302 a0003c0004t0011g0004 a0003c0012t0002g0123 a0005c0013t0001g0187 a0006c0014t0001g0015	139	312	0.4455	3	c.700 others(10): Show c.700_702dupAAC	p.Asn others(6): Show p.Asn234dup	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	4/13	895/4483	702/1869	234/622		chr12	TogoVar
C13orf46_chr13_113948705_113979076	113973867	C C	CCCAGACT others(29): Show CCCAGACTCCTGCTTCGCTGAAGTTCAGAGGCCTCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19006.hp2 NA19006.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0074 a0005c0005t0001g0074	1	414	0.0024	36	c.130 others(43): Show c.130_131insAGGAGGCCTCTGAACTTCAGCGAAGCAGGAGTCTGG	p.Leu others(47): Show p.Leu43_Gly44insGluGluAlaSerGluLeuGlnArgSerArgSerL eu	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	1/7	209/3786	130/639	44/212		chr13	TogoVar
C19orf33_chr19_38299251_38310006	38304910	G G	GAAGAAGG others(8): Show GAAGAAGGAGAAGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00558.hp2 HG00597.hp2 others(77): Show HG00099.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01081.hp2 HG01346.hp2 HG01361.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02738.hp1 HG03017.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03831.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp1 NA19059.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19087.hp2 NA19090.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0001 a0002c0002t0002g0003	80	406	0.1970	15	c.289 others(22): Show c.289_303dupGAGAAGGGCAAGAAG	p.Glu others(12): Show p.Glu97_Lys101dup	C19orf33	ENSG00000167644.12	transcript	ENST00000301246.10	protein_coding	4/4	315/374	304/321	102/106	INFO_REALIGN_3_PRIME	chr19	TogoVar
C2orf81_chr2_74409177_74426619	74415138	A A	ACGCGGAG others(17): Show ACGCGGAGGGGCGGGTGGCGCCGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG00558.hp2 HG00597.hp2 others(101): Show HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00735.hp2 HG01070.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18946.hp2 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0003 a0005c0007 a0007c0009 a0002c0003 a0005c0007 a0007c0009	a0002c0003t0001 a0005c0007t0001 a0007c0009t0001 a0002c0003t0001 a0005c0007t0001 a0007c0009t0001	a0002c0003t0001g0003 a0002c0003t0001g0007 a0002c0003t0001g0009 others(35): Show a0002c0003t0001g0003 a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0011 a0002c0003t0001g0014 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0020 a0002c0003t0001g0024 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0039 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0085 a0002c0003t0001g0089 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0096 a0002c0003t0001g0097 a0002c0003t0001g0100 a0002c0003t0001g0105 a0002c0003t0001g0110 a0005c0007t0001g0083 a0007c0009t0001g0104	104	402	0.2587	24	c.101 others(33): Show c.1015_1038dupGGCGGCGCCACCCGCCCCTCCGCG	p.Ala others(37): Show p.Ala346_Ser347insGlyGlyAlaThrArgProSerAla	C2orf81	ENSG00000284308.2	transcript	ENST00000684111.1	protein_coding	3/3	1097/2059	1038/1848	346/615		chr2	TogoVar
C2orf81_chr2_74409177_74426619	74415138	A A	ACGCGGAG others(41): Show ACGCGGAGGGGCGGGTGGCGCCGCCCGCGGAGGGGCGGGTGGCGCCGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18952.hp1 NA18952.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0084 a0006c0008t0001g0084	1	402	0.0025	48	c.103 others(57): Show c.1038_1039insGGCGGCGCCACCCGCCCCTCCGCGGGCGGCGCCACC CGCCCCTCCGCG	p.Ala others(61): Show p.Ala346_Ser347insGlyGlyAlaThrArgProSerAlaGlyGlyAl aThrArgProSerAla	C2orf81	ENSG00000284308.2	transcript	ENST00000684111.1	protein_coding	3/3	1097/2059	1038/1848	346/615		chr2	TogoVar
C6orf118_chr6_165274664_165314605	165302195	T T	TCTTCAGA others(77): Show TCTTCAGATTACACAGGGTCTTCACTCCTGGCGTCTCGCAGTGCTTCAGA TTACACAGGGTCTTCACGCCTGGCGTCTCGCAGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03130.hp1 HG03130.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0101 a0008c0022t0001g0101	1	360	0.0028	84	c.43_ others(90): Show c.43_126dupCACTGCGAGACGCCAGGCGTGAAGACCCTGTGTAATCTG AAGCACTGCGAGACGCCAGGAGTGAAGACCCTGTGTAATCTGAAG	p.Lys others(95): Show p.Lys42_Lys43insHisCysGluThrProGlyValLysThrLeuCysA snLeuLysHisCysGluThrProGlyValLysThrLeuCysAsnLeuLys	C6orf118	ENSG00000112539.15	transcript	ENST00000230301.9	protein_coding	2/9	145/1822	126/1410	42/469		chr6	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	C C	CCTG CCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp1 HG00423.hp2 HG01496.hp1 others(9): Show HG00423.hp1 HG00423.hp2 HG01496.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02273.hp2 NA18968.hp2 NA18980.hp1 NA20129.hp2	a0007 a0012 a0041 others(1): Show a0007 a0012 a0041 a0045	a0007c0009 a0007c0075 a0007c0100 others(5): Show a0007c0009 a0007c0075 a0007c0100 a0007c0118 a0012c0023 a0012c0065 a0041c0067 a0045c0036	a0007c0009t0003 a0007c0009t0034 a0007c0009t0038 others(7): Show a0007c0009t0003 a0007c0009t0034 a0007c0009t0038 a0007c0075t0003 a0007c0100t0017 a0007c0118t0002 a0012c0023t0003 a0012c0065t0017 a0041c0067t0002 a0045c0036t0028	a0007c0009t0003g0031 a0007c0009t0003g0069 a0007c0009t0034g0163 others(9): Show a0007c0009t0003g0031 a0007c0009t0003g0069 a0007c0009t0034g0163 a0007c0009t0038g0153 a0007c0075t0003g0190 a0007c0100t0017g0039 a0007c0118t0002g0052 a0012c0023t0003g0164 a0012c0023t0003g0180 a0012c0065t0017g0055 a0041c0067t0002g0172 a0045c0036t0028g0173	12	218	0.0551	3	c.697 others(12): Show c.6973_6975dupCAG	p.Gln others(7): Show p.Gln2325dup	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6975/7521	2325/2506		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	C C	CCTGCTGC others(5): Show CCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18964.hp2 NA18964.hp2	a0030 a0030	a0030c0062 a0030c0062	a0030c0062t0002 a0030c0062t0002	a0030c0062t0002g0124 a0030c0062t0002g0124	1	218	0.0046	12	c.696 others(21): Show c.6964_6975dupCAGCAGCAGCAG	p.Gln others(15): Show p.Gln2322_Gln2325dup	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6975/7521	2325/2506		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	C C	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19012.hp2 NA19012.hp2	a0031 a0031	a0031c0061 a0031c0061	a0031c0061t0003 a0031c0061t0003	a0031c0061t0003g0106 a0031c0061t0003g0106	1	218	0.0046	15	c.696 others(24): Show c.6961_6975dupCAGCAGCAGCAGCAG	p.Gln others(15): Show p.Gln2321_Gln2325dup	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6975/7521	2325/2506		chr19	TogoVar
CAMSAP1_chr9_135803487_135912546	135823075	A A	AGGCTCTT others(5): Show AGGCTCTTCCCGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0100 a0005c0014t0001g0100	1	340	0.0029	12	c.157 others(21): Show c.1574_1585dupACGGGAAGAGCC	p.His others(13): Show p.His525_Ser528dup	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	11/17	1972/8018	1585/4809	529/1602		chr9	TogoVar
CARD10_chr22_37485362_37524415	37510301	G G	GCTCCTT GCTCCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00642.hp1 HG02451.hp1 HG02965.hp2 others(2): Show HG00642.hp1 HG02451.hp1 HG02965.hp2 HG03654.hp1 HG03669.hp2	a0004 a0010 a0004 a0010	a0004c0015 a0004c0031 a0010c0030 a0004c0015 a0004c0031 a0010c0030	a0004c0015t0001 a0004c0015t0008 a0004c0031t0002 others(1): Show a0004c0015t0001 a0004c0015t0008 a0004c0031t0002 a0010c0030t0001	a0004c0015t0001g0089 a0004c0015t0001g0102 a0004c0015t0008g0125 others(2): Show a0004c0015t0001g0089 a0004c0015t0001g0102 a0004c0015t0008g0125 a0004c0031t0002g0086 a0010c0030t0001g0062	5	276	0.0181	6	c.814 others(13): Show c.814_819dupAAGGAG	p.Glu others(19): Show p.Glu273_Pro274insLysGlu	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/20	1034/4111	819/3099	273/1032		chr22	TogoVar
CASP10_chr2_201178141_201226665	201217635	G G	GTCGAAGA others(38): Show GTCGAAGAGTGGACAAACAGGGAACAAAGAAACAGATGCCCCAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp1 HG01884.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0016 a0008c0013t0016	a0008c0013t0016g0174 a0008c0013t0016g0174	1	322	0.0031	45	c.146 others(54): Show c.1465_1509dupCGAAGAGTGGACAAACAGGGAACAAAGAAACAGATG CCCCAGCCT	p.Arg others(13): Show p.Arg489_Pro503dup	CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	10/10	1685/5668	1510/1569	504/522	INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP7_chr10_113674912_113735905	113729503	T T	TCTCCATG others(11): Show TCTCCATGCTCCGCAGGTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0204 a0005c0009t0003g0204	1	406	0.0025	18	c.885 others(25): Show c.885_886insCGCAGGTACTCCATGCTC	p.Leu others(31): Show p.Leu295_Thr296insArgArgTyrSerMetLeu	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	7/7	953/2344	886/912	296/303	INFO_REALIGN_3_PRIME	chr10	TogoVar
CATSPERB_chr14_91575698_91737086	91610670	G G	GTTGAACC others(188): Show GTTGAACCCTGGAAATAACCAAATAAATGAAGGTTATTTAAAGTAACTGT TATGGACTGAACTGTGTCCAACCAAAAATCACATGTTGAAACCCCAACCT CCAGTATCTCAAAATGTGGCTGTATTTGGAGATAGGGCCTTTAAGGAGGT AATTAAGGTAAAATGAGGTCATTTGGGTGGGCCCCAATCCAGTGTC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG01081.hp2 HG01081.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0047 a0006c0008t0001g0047	1	271	0.0037	195	c.240 others(208): Show c.2401-188_2407dupGACACTGGATTGGGGCCCACCCAAATGACCTC ATTTTACCTTAATTACCTCCTTAAAGGCCCTATCTCCAAATACAGCCACA TTTTGAGATACTGGAGGTTGGGGTTTCAACATGTGATTTTTGGTTGGACA CAGTTCAGTCCATAACAGTTACTTTAAATAACCTTCATTTATTTGGTTAT TTCCAGGGTTCAA	p.Ser others(208): Show p.Ser802_Thr803insArgHisTrpIleGlyAlaHisProAsnAspLe uIleLeuProTerLeuProProTerArgProTyrLeuGlnIleGlnProH isPheGluIleLeuGluValGlyValSerThrCysAspPheTrpLeuAsp ThrValGlnSerIleThrValThrLeuAsnAsnLeuHisLeuPheGlyTy rPheGlnGlySer	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	21/27	2564/3699	2407/3351	803/1116		chr14	TogoVar
CAVIN1_chr17_42397449_42428256	42405289	G G	GCTCGCCC others(11): Show GCTCGCCCTCGCCCAGCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0006 a0002c0011t0006	a0002c0011t0006g0091 a0002c0011t0006g0091	1	338	0.0030	18	c.553 others(25): Show c.553_570dupGAGCTGGGCGAGGGCGAG	p.Glu others(31): Show p.Glu190_Arg191insGluLeuGlyGluGlyGlu	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	2/2	729/3570	570/1173	190/390		chr17	TogoVar
CBX4_chr17_79828156_79844440	79834441	C C	CGTG CGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00735.hp2 HG01069.hp2 others(14): Show HG00140.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG02683.hp2 HG02735.hp1 HG03225.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp2 NA18941.hp1 NA18986.hp1 NA19012.hp2 NA20129.hp1 NA20752.hp2	a0000 a0003 a0007 a0000 a0003 a0007	a0000c0013 a0003c0004 a0007c0014 a0000c0013 a0003c0004 a0007c0014	a0000c0013t0001 a0003c0004t0001 a0003c0004t0002 others(1): Show a0000c0013t0001 a0003c0004t0001 a0003c0004t0002 a0007c0014t0001	a0000c0013t0001g0128 a0003c0004t0001g0038 a0003c0004t0001g0058 others(8): Show a0000c0013t0001g0128 a0003c0004t0001g0038 a0003c0004t0001g0058 a0003c0004t0001g0108 a0003c0004t0001g0125 a0003c0004t0002g0018 a0003c0004t0002g0040 a0003c0004t0002g0093 a0003c0004t0002g0114 a0003c0004t0002g0137 a0007c0014t0001g0144	17	420	0.0405	3	c.119 others(12): Show c.1198_1200dupCAC	p.His others(6): Show p.His400dup	CBX4	ENSG00000141582.15	transcript	ENST00000269397.9	protein_coding	5/5	1389/2675	1200/1683	400/560		chr17	TogoVar
CCDC157_chr22_30352007_30383673	30376487	C C	CCAGCCCT others(17): Show CCAGCCCTGCACATCCCCACCTCGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01175.hp2 HG02055.hp2 HG02451.hp1 others(2): Show HG01175.hp2 HG02055.hp2 HG02451.hp1 HG02630.hp2 HG03139.hp1	a0007 a0018 a0019 a0007 a0018 a0019	a0007c0010 a0018c0021 a0019c0023 a0007c0010 a0018c0021 a0019c0023	a0007c0010t0004 a0018c0021t0001 a0019c0023t0003 a0007c0010t0004 a0018c0021t0001 a0019c0023t0003	a0007c0010t0004g0003 a0018c0021t0001g0219 a0019c0023t0003g0209 a0007c0010t0004g0003 a0018c0021t0001g0219 a0019c0023t0003g0209	5	440	0.0114	24	c.206 others(33): Show c.2068_2091dupCCTCGGCAGCCCTGCACATCCCCA	p.Pro others(13): Show p.Pro690_Pro697dup	CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	12/12	2383/4478	2092/2259	698/752	INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC180_chr9_97302659_97383751	97330686	A A	AGAGGAG AGAGGAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(248): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(17): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0015 a0016 a0019 a0020 a0021 a0022 a0023 a0024 a0025	a0002c0002 a0002c0011 a0002c0016 others(23): Show a0002c0002 a0002c0011 a0002c0016 a0002c0020 a0003c0003 a0003c0004 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0008c0009 a0008c0015 a0009c0013 a0010c0010 a0012c0023 a0012c0024 a0014c0031 a0015c0017 a0016c0030 a0019c0029 a0020c0032 a0021c0018 a0022c0019 a0023c0021 a0024c0022 a0025c0014	a0002c0002t0002 a0002c0002t0009 a0002c0002t0016 others(39): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0016 a0002c0002t0027 a0002c0002t0028 a0002c0011t0002 a0002c0016t0002 a0002c0020t0002 a0003c0003t0001 a0003c0003t0003 a0003c0003t0013 a0003c0003t0022 a0003c0003t0024 a0003c0004t0004 a0003c0004t0019 a0003c0004t0020 a0004c0005t0005 a0004c0005t0026 a0005c0006t0006 a0005c0006t0018 a0005c0006t0021 a0006c0007t0003 a0006c0007t0007 a0007c0008t0003 a0007c0008t0011 a0008c0009t0003 a0008c0009t0014 a0008c0015t0003 a0009c0013t0013 a0010c0010t0004 a0012c0023t0015 a0012c0024t0015 a0014c0031t0003 a0015c0017t0002 a0016c0030t0001 a0019c0029t0005 a0020c0032t0003 a0021c0018t0002 a0022c0019t0011 a0023c0021t0002 a0024c0022t0005 a0025c0014t0004	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 others(219): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0204 a0002c0002t0009g0005 a0002c0002t0009g0016 a0002c0002t0009g0111 a0002c0002t0009g0113 a0002c0002t0016g0148 a0002c0002t0027g0173 a0002c0002t0028g0205 a0002c0011t0002g0109 a0002c0011t0002g0167 a0002c0016t0002g0120 a0002c0020t0002g0001 a0003c0003t0001g0023 a0003c0003t0003g0004 a0003c0003t0003g0013 a0003c0003t0003g0040 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0003g0079 a0003c0003t0003g0080 a0003c0003t0003g0081 a0003c0003t0003g0082 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0003g0085 a0003c0003t0003g0086 a0003c0003t0003g0088 a0003c0003t0003g0089 a0003c0003t0003g0098 a0003c0003t0003g0100 a0003c0003t0003g0101 a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0104 a0003c0003t0013g0071 a0003c0003t0022g0053 a0003c0003t0024g0064 a0003c0004t0004g0285 a0003c0004t0004g0286 a0003c0004t0004g0287 a0003c0004t0004g0288 a0003c0004t0004g0289 a0003c0004t0004g0291 a0003c0004t0004g0292 a0003c0004t0004g0295 a0003c0004t0004g0296 a0003c0004t0004g0298 a0003c0004t0004g0299 a0003c0004t0004g0300 a0003c0004t0004g0301 a0003c0004t0004g0302 a0003c0004t0004g0303 a0003c0004t0004g0304 a0003c0004t0004g0305 a0003c0004t0004g0306 a0003c0004t0004g0307 a0003c0004t0004g0309 a0003c0004t0004g0310 a0003c0004t0004g0311 a0003c0004t0004g0312 a0003c0004t0004g0313 a0003c0004t0004g0314 a0003c0004t0004g0315 a0003c0004t0004g0316 a0003c0004t0004g0317 a0003c0004t0004g0318 a0003c0004t0004g0319 a0003c0004t0019g0290 a0003c0004t0020g0297 a0004c0005t0005g0022 a0004c0005t0005g0107 a0004c0005t0005g0181 a0004c0005t0005g0182 a0004c0005t0005g0183 a0004c0005t0005g0184 a0004c0005t0005g0185 a0004c0005t0005g0187 a0004c0005t0005g0188 a0004c0005t0005g0189 a0004c0005t0005g0190 a0004c0005t0005g0191 a0004c0005t0005g0192 a0004c0005t0005g0193 a0004c0005t0005g0194 a0004c0005t0005g0195 a0004c0005t0005g0197 a0004c0005t0005g0198 a0004c0005t0005g0199 a0004c0005t0005g0200 a0004c0005t0005g0201 a0004c0005t0005g0202 a0004c0005t0026g0196 a0005c0006t0006g0041 a0005c0006t0006g0042 a0005c0006t0006g0043 a0005c0006t0006g0045 a0005c0006t0006g0046 a0005c0006t0006g0047 a0005c0006t0006g0048 a0005c0006t0006g0050 a0005c0006t0006g0051 a0005c0006t0018g0049 a0005c0006t0021g0044 a0006c0007t0003g0180 a0006c0007t0007g0008 a0006c0007t0007g0020 a0006c0007t0007g0021 a0006c0007t0007g0175 a0006c0007t0007g0176 a0007c0008t0003g0031 a0007c0008t0003g0032 a0007c0008t0003g0033 a0007c0008t0003g0036 a0007c0008t0011g0034 a0007c0008t0011g0037 a0007c0008t0011g0038 a0008c0009t0003g0028 a0008c0009t0003g0029 a0008c0009t0014g0012 a0008c0015t0003g0030 a0009c0013t0013g0015 a0010c0010t0004g0293 a0010c0010t0004g0294 a0012c0023t0015g0179 a0012c0024t0015g0178 a0014c0031t0003g0072 a0015c0017t0002g0133 a0016c0030t0001g0023 a0019c0029t0005g0203 a0020c0032t0003g0087 a0021c0018t0002g0166 a0022c0019t0011g0035 a0023c0021t0002g0126 a0024c0022t0005g0186 a0025c0014t0004g0308	251	364	0.6896	6	c.220 others(15): Show c.2203_2208dupGAGGAG	p.Glu others(13): Show p.Glu735_Glu736dup	CCDC180	ENSG00000197816.16	transcript	ENST00000529487.3	protein_coding	18/37	2438/7060	2209/4974	737/1657	INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC66_chr3_56552175_56626837	56616023	A A	ACTT ACTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(167): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00733.hp2 HG01069.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01952.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19076.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0005 a0001c0016 others(9): Show a0001c0001 a0001c0005 a0001c0016 a0001c0026 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0003c0004 a0003c0010 a0010c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0005t0003 a0001c0016t0001 a0001c0026t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0003c0004t0004 a0003c0004t0006 a0003c0004t0007 a0003c0010t0004 a0010c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(150): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0204 a0001c0001t0002g0321 a0001c0001t0003g0130 a0001c0001t0003g0177 a0001c0001t0009g0106 a0001c0001t0009g0205 a0001c0001t0010g0124 a0001c0005t0003g0021 a0001c0005t0003g0101 a0001c0005t0003g0206 a0001c0005t0003g0207 a0001c0005t0003g0208 a0001c0005t0003g0209 a0001c0005t0003g0210 a0001c0005t0003g0211 a0001c0005t0003g0212 a0001c0005t0003g0213 a0001c0005t0003g0214 a0001c0016t0001g0019 a0001c0016t0001g0184 a0001c0026t0001g0172 a0001c0030t0001g0182 a0001c0031t0001g0118 a0001c0032t0001g0215 a0001c0033t0001g0166 a0001c0034t0001g0139 a0003c0004t0004g0002 a0003c0004t0004g0005 a0003c0004t0004g0022 a0003c0004t0004g0216 a0003c0004t0004g0217 a0003c0004t0004g0218 a0003c0004t0004g0224 a0003c0004t0004g0226 a0003c0004t0004g0227 a0003c0004t0004g0228 a0003c0004t0004g0230 a0003c0004t0004g0231 a0003c0004t0004g0232 a0003c0004t0006g0002 a0003c0004t0006g0220 a0003c0004t0006g0221 a0003c0004t0006g0222 a0003c0004t0006g0229 a0003c0004t0007g0223 a0003c0004t0007g0225 a0003c0010t0004g0004 a0003c0010t0004g0219 a0010c0025t0001g0014	170	372	0.4570	3	c.181 others(12): Show c.1816_1818dupTCT	p.Ser others(6): Show p.Ser606dup	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	13/18	1887/3134	1819/2847	607/948	INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC66_chr3_56552175_56626837	56616026	T T	TCTC TCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(137): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01981.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19076.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013	a0001c0008 a0002c0002 a0002c0017 others(14): Show a0001c0008 a0002c0002 a0002c0017 a0002c0020 a0002c0024 a0004c0007 a0004c0009 a0004c0011 a0004c0013 a0004c0019 a0005c0006 a0006c0014 a0007c0015 a0008c0012 a0011c0021 a0012c0022 a0013c0023	a0001c0008t0002 a0001c0008t0003 a0002c0002t0001 others(22): Show a0001c0008t0002 a0001c0008t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0012 a0002c0017t0002 a0002c0020t0011 a0002c0024t0003 a0004c0007t0005 a0004c0009t0002 a0004c0009t0003 a0004c0011t0003 a0004c0011t0005 a0004c0013t0005 a0004c0019t0002 a0005c0006t0002 a0005c0006t0003 a0006c0014t0002 a0007c0015t0003 a0008c0012t0008 a0011c0021t0003 a0012c0022t0002 a0013c0023t0003	a0001c0008t0002g0318 a0001c0008t0003g0097 a0001c0008t0003g0098 others(124): Show a0001c0008t0002g0318 a0001c0008t0003g0097 a0001c0008t0003g0098 a0001c0008t0003g0099 a0001c0008t0003g0100 a0001c0008t0003g0317 a0001c0008t0003g0319 a0001c0008t0003g0320 a0002c0002t0001g0278 a0002c0002t0001g0284 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0273 a0002c0002t0002g0276 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0003g0027 a0002c0002t0003g0040 a0002c0002t0003g0044 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0255 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0263 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0268 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0274 a0002c0002t0003g0285 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0330 a0002c0002t0005g0270 a0002c0002t0005g0275 a0002c0002t0005g0277 a0002c0002t0012g0281 a0002c0017t0002g0235 a0002c0020t0011g0331 a0002c0024t0003g0028 a0004c0007t0005g0023 a0004c0007t0005g0107 a0004c0007t0005g0237 a0004c0007t0005g0238 a0004c0007t0005g0240 a0004c0007t0005g0241 a0004c0007t0005g0242 a0004c0009t0002g0007 a0004c0009t0002g0308 a0004c0009t0003g0309 a0004c0009t0003g0310 a0004c0011t0003g0233 a0004c0011t0003g0234 a0004c0011t0005g0236 a0004c0013t0005g0024 a0004c0019t0002g0243 a0005c0006t0002g0003 a0005c0006t0002g0006 a0005c0006t0002g0289 a0005c0006t0002g0290 a0005c0006t0003g0288 a0006c0014t0002g0323 a0006c0014t0002g0324 a0007c0015t0003g0025 a0008c0012t0008g0311 a0008c0012t0008g0312 a0011c0021t0003g0253 a0012c0022t0002g0254 a0013c0023t0003g0244	140	372	0.3763	3	c.181 others(12): Show c.1818_1819insCCT	p.Ser others(16): Show p.Ser606_Lys607insPro	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	13/18	1887/3134	1819/2847	607/948	INFO_REALIGN_3_PRIME	chr3	TogoVar
CD209_chr19_7734993_7752534	7745535	T T	TGGGTCAG others(62): Show TGGGTCAGCTCCTGGTAGATCTCCTGCTGCTTAGATTTCTCTGGAAGCTC ACCCACTGCAGCCTTCAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18971.hp1 NA18971.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0003 a0011c0020t0003	a0011c0020t0003g0081 a0011c0020t0003g0081	1	454	0.0022	69	c.662 others(76): Show c.662_730dupGGCTGAAGGCTGCAGTGGGTGAGCTTCCAGAGAAATCT AAGCAGCAGGAGATCTACCAGGAGCTGACCC	p.Arg others(13): Show p.Arg221_Thr243dup	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding	4/7	753/4284	730/1215	244/404		chr19	TogoVar
CD209_chr19_7734993_7752534	7745535	T T	TGGGTCAG others(131): Show TGGGTCAGCTCCTGGTAGATCTCCTGCTGCTTAGATTTCTCTGGAAGCTC ACCCACTGCAGCCTTCAGCCGGGTCAGCTCCTGGTAGATCTCCTGCTGCT TAGATTTCTCTGGAAGCTCACCCACTGCAGCCTTCAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02258.hp2 HG02258.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0051 a0012c0021t0051	a0012c0021t0051g0082 a0012c0021t0051g0082	1	454	0.0022	138	c.593 others(145): Show c.593_730dupGGCTGAAGGCTGCAGTGGGTGAGCTTCCAGAGAAATCT AAGCAGCAGGAGATCTACCAGGAGCTGACCCGGCTGAAGGCTGCAGTGGG TGAGCTTCCAGAGAAATCTAAGCAGCAGGAGATCTACCAGGAGCTGACCC	p.Arg others(13): Show p.Arg198_Thr243dup	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding	4/7	753/4284	730/1215	244/404		chr19	TogoVar
CD55_chr1_207316678_207365966	207321864	G G	GCTCGCAA others(5): Show GCTCGCAATACCA	conservative_inframe_insertion others(1): Show conservative_inframe_insertion splice_region_variant	MODERATE	NA19083.hp2 NA19083.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0205 a0003c0010t0001g0205	1	356	0.0028	12	c.99_ others(18): Show c.99_100insCTCGCAATACCA	p.Trp others(23): Show p.Trp33_Gly34insLeuAlaIlePro	CD55	ENSG00000196352.18	transcript	ENST00000367064.9	protein_coding	1/10	188/2590	100/1146	34/381		chr1	TogoVar
CDHR5_chr11_611583_629955	617406	G G	GCGCCCT GCGCCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp2 HG02486.hp1 HG02647.hp1 others(3): Show HG01884.hp2 HG02486.hp1 HG02647.hp1 HG02809.hp1 HG03139.hp2 NA19043.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0027 a0006c0008t0001g0039 a0006c0008t0001g0077 a0006c0008t0001g0027 a0006c0008t0001g0039 a0006c0008t0001g0077	6	409	0.0147	6	c.247 others(15): Show c.2477_2482dupAGGGCG	p.Glu others(13): Show p.Glu826_Gly827dup	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding	15/15	2535/3359	2482/2538	828/845		chr11	TogoVar
CDK11A_chr1_1697379_1729357	1712288	T T	TGCGCCGC others(5): Show TGCGCCGCTCCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp1 HG03225.hp2 HG01884.hp1 HG03225.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0002 a0010c0013t0002	a0010c0013t0002g0179 a0010c0013t0002g0210 a0010c0013t0002g0179 a0010c0013t0002g0210	2	372	0.0054	12	c.589 others(19): Show c.589_600dupGAGGAGCGGCGC	p.Arg others(25): Show p.Arg200_Lys201insGluGluArgArg	CDK11A	ENSG00000008128.23	transcript	ENST00000404249.8	protein_coding	6/20	713/2984	600/2343	200/780		chr1	TogoVar
CDK13_chr7_39945256_40104580	39951382	G G	GAGCGGC GAGCGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18945.hp2 NA18974.hp1 NA19056.hp2 NA18945.hp2 NA18974.hp1 NA19056.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0085 a0004c0007t0001g0086 a0004c0007t0001g0087 a0004c0007t0001g0085 a0004c0007t0001g0086 a0004c0007t0001g0087	3	322	0.0093	6	c.745 others(13): Show c.745_750dupGGCAGC	p.Gly others(13): Show p.Gly249_Ser250dup	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/14	1137/9525	751/4539	251/1512	INFO_REALIGN_3_PRIME	chr7	TogoVar
CEACAM21_chr19_41571166_41591844	41577387	A A	AGAC AGAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(88): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01123.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02622.hp2 HG02683.hp1 HG02818.hp2 HG03017.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0002 a0003c0014 a0005c0006 others(1): Show a0003c0002 a0003c0014 a0005c0006 a0008c0013	a0003c0002t0001 a0003c0002t0006 a0003c0014t0001 others(2): Show a0003c0002t0001 a0003c0002t0006 a0003c0014t0001 a0005c0006t0002 a0008c0013t0001	a0003c0002t0001g0002 a0003c0002t0001g0005 a0003c0002t0001g0010 others(16): Show a0003c0002t0001g0002 a0003c0002t0001g0005 a0003c0002t0001g0010 a0003c0002t0001g0012 a0003c0002t0001g0024 a0003c0002t0001g0025 a0003c0002t0001g0027 a0003c0002t0001g0048 a0003c0002t0001g0049 a0003c0002t0001g0050 a0003c0002t0001g0051 a0003c0002t0001g0052 a0003c0002t0001g0053 a0003c0002t0001g0061 a0003c0002t0006g0002 a0003c0014t0001g0002 a0005c0006t0002g0020 a0005c0006t0002g0062 a0008c0013t0001g0054	91	393	0.2316	3	c.253 others(10): Show c.253_255dupGAC	p.Asp others(5): Show p.Asp85dup	CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	2/7	365/1372	256/882	86/293	INFO_REALIGN_3_PRIME	chr19	TogoVar
CEBPA_chr19_33294934_33307534	33301825	G G	GGCGGGT GGCGGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00280.hp1 HG00558.hp1 HG01069.hp2 others(42): Show HG00280.hp1 HG00558.hp1 HG01069.hp2 HG01071.hp1 HG01261.hp2 HG01496.hp1 HG01516.hp2 HG01934.hp1 HG02155.hp1 HG02293.hp2 HG02559.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18949.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp2 NA18970.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA19002.hp2 NA19010.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19091.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0001 a0004c0006t0001 a0002c0002t0001 a0004c0006t0001	a0002c0002t0001g0000 a0004c0006t0001g0000 a0002c0002t0001g0000 a0004c0006t0001g0000	45	450	0.1000	6	c.584 others(13): Show c.584_589dupACCCGC	p.His others(13): Show p.His195_Pro196dup	CEBPA	ENSG00000245848.3	transcript	ENST00000498907.3	protein_coding	1/1	709/2601	589/1077	197/358		chr19	TogoVar
CEBPA_chr19_33294934_33307534	33301825	G G	GGCGGGTG others(5): Show GGCGGGTGCGGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19081.hp2 NA19081.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	1	450	0.0022	12	c.578 others(19): Show c.578_589dupACCCGCACCCGC	p.His others(13): Show p.His193_Pro196dup	CEBPA	ENSG00000245848.3	transcript	ENST00000498907.3	protein_coding	1/1	709/2601	589/1077	197/358		chr19	TogoVar

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