Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
HTT_chr4_3069681_3248957	3074876	CCAGCAGC others(11): Show CCAGCAGCAGCAGCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp2 HG00639.hp1 HG02280.hp1 others(1): Show HG00323.hp2 HG00639.hp1 HG02280.hp1 HG03239.hp1	a0022 a0032 a0043 a0022 a0032 a0043	a0022c0045 a0022c0046 a0032c0047 others(1): Show a0022c0045 a0022c0046 a0032c0047 a0043c0048	a0022c0045t0008 a0022c0046t0008 a0032c0047t0008 others(1): Show a0022c0045t0008 a0022c0046t0008 a0032c0047t0008 a0043c0048t0001	a0022c0045t0008g0149 a0022c0046t0008g0150 a0032c0047t0008g0151 others(1): Show a0022c0045t0008g0149 a0022c0046t0008g0150 a0032c0047t0008g0151 a0043c0048t0001g0011	4	135	0.0296	-18	c.93_ others(24): Show c.93_110delGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln32_Gln37del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	238/13472	93/9429	31/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074945	ACCG ACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02145.hp1 HG03139.hp2 others(2): Show HG01884.hp1 HG02145.hp1 HG03139.hp2 HG06807.hp2 NA19240.hp2	a0017 a0038 a0017 a0038	a0017c0018 a0017c0055 a0038c0064 a0017c0018 a0017c0055 a0038c0064	a0017c0018t0007 a0017c0018t0023 a0017c0055t0034 others(1): Show a0017c0018t0007 a0017c0018t0023 a0017c0055t0034 a0038c0064t0031	a0017c0018t0007g0172 a0017c0018t0007g0186 a0017c0018t0023g0185 others(2): Show a0017c0018t0007g0172 a0017c0018t0007g0186 a0017c0018t0023g0185 a0017c0055t0034g0174 a0038c0064t0031g0184	5	133	0.0376	-3	c.141 others(10): Show c.141_143delGCC	p.Pro others(5): Show p.Pro48del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	286/13472	141/9429	47/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3075022	AGCCGCCC others(5): Show AGCCGCCCCCGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02080.hp1 HG02970.hp2 HG03453.hp1 HG02080.hp1 HG02970.hp2 HG03453.hp1	a0029 a0041 a0029 a0041	a0029c0026 a0041c0089 a0029c0026 a0041c0089	a0029c0026t0001 a0041c0089t0001 a0029c0026t0001 a0041c0089t0001	a0029c0026t0001g0042 a0029c0026t0001g0065 a0041c0089t0001g0169 a0029c0026t0001g0042 a0029c0026t0001g0065 a0041c0089t0001g0169	3	292	0.0103	-12	c.213 others(19): Show c.213_224delGCCCCCGCCGCC	p.Pro others(11): Show p.Pro72_Pro75del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	358/13472	213/9429	71/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HUS1B_chr6_650939_662100	656300	CACAGCCG others(17): Show CACAGCCGACTGGGGAGGGTTTCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03471.hp1 HG03471.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0000 a0012c0012t0001g0000	1	430	0.0023	-24	c.621 others(31): Show c.621_644delTGGAAACCCTCCCCAGTCGGCTGT	p.Gly others(13): Show p.Gly208_Val215del	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding	1/1	800/1162	621/837	207/278		chr6	TogoVar
HYAL1_chr3_50294893_50308574	50302778	GCTACCAC others(26): Show GCTACCACATCGAAGACACTGACATCCACGTCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18747.hp1 NA18747.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0002 a0010c0008t0002	a0010c0008t0002g0033 a0010c0008t0002g0033	1	382	0.0026	-33	c.146 others(40): Show c.146_178delTGGACGTGGATGTCAGTGTCTTCGATGTGGTAG	p.Val others(11): Show p.Val49_Val59del	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding	2/4	311/2031	146/1308	49/435		chr3	TogoVar
HYI_chr1_43445989_43458931	43451405	CTCACCTC others(6): Show CTCACCTCGAGGCT	C C	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18951.hp2 NA18997.hp1 NA18951.hp2 NA18997.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0017 a0005c0007t0001g0017	2	420	0.0048	-13	c.752 others(22): Show c.752_760+4delAGCCTCGAGGTGA	p.Gln others(19): Show p.Gln251_Gly254delinsArg	HYI	ENSG00000178922.18	transcript	ENST00000372430.9	protein_coding	7/8		752/834	251/277		chr1	TogoVar
IER5L_chr9_129170552_129183261	129177693	CAGCTGGT others(2): Show CAGCTGGTGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02055.hp1 HG02055.hp2 others(3): Show HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02735.hp1 HG02965.hp2 NA19088.hp1	a0003 a0005 a0003 a0005	a0003c0006 a0003c0007 a0005c0012 a0003c0006 a0003c0007 a0005c0012	a0003c0006t0001 a0003c0007t0001 a0005c0012t0002 a0003c0006t0001 a0003c0007t0001 a0005c0012t0002	a0003c0006t0001g0000 a0003c0007t0001g0000 a0005c0012t0002g0000 a0003c0006t0001g0000 a0003c0007t0001g0000 a0005c0012t0002g0000	6	424	0.0142	-9	c.351 others(16): Show c.351_359delCCACCAGCT	p.His others(13): Show p.His118_Leu120del	IER5L	ENSG00000188483.8	transcript	ENST00000372491.4	protein_coding	1/1	568/2710	351/1215	117/404		chr9	TogoVar
IFI27_chr14_94105736_94121690	94115784	TGGCCATG others(2): Show TGGCCATGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(146): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 NA18906.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0008 others(19): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0074 a0002c0002t0001g0082 a0002c0002t0001g0084	149	466	0.3197	-9	c.129 others(16): Show c.129_137delCATGGCGGC	p.Met others(11): Show p.Met44_Ala46del	IFI27	ENSG00000165949.13	transcript	ENST00000621160.5	protein_coding	4/5	249/652	129/369	43/122	INFO_REALIGN_3_PRIME	chr14	TogoVar
IFI44L_chr1_78615448_78651145	78641091	CATGAGTA others(5): Show CATGAGTAGATCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp1 HG03579.hp1 HG02630.hp1 HG03579.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0050 a0008c0008t0101 a0008c0008t0050 a0008c0008t0101	a0008c0008t0050g0031 a0008c0008t0101g0031 a0008c0008t0050g0031 a0008c0008t0101g0031	2	428	0.0047	-12	c.112 others(21): Show c.1124_1135delGTAGATCTATGA	p.Ser others(13): Show p.Ser375_Met378del	IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding	7/9	1258/5829	1124/1359	375/452	INFO_REALIGN_3_PRIME	chr1	TogoVar
IFNGR2_chr21_33398413_33442516	33403590	TCGCCGCC others(5): Show TCGCCGCCGCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19030.hp1 NA19030.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0235 a0011c0014t0001g0235	1	384	0.0026	-12	c.51_ others(17): Show c.51_62delCGCCGCCGCCGC	p.Ala others(11): Show p.Ala18_Ala21del	IFNGR2	ENSG00000159128.16	transcript	ENST00000290219.11	protein_coding	1/7	182/1699	51/1014	17/337	INFO_REALIGN_3_PRIME	chr21	TogoVar
IFT46_chr11_118539543_118570931	118557032	GTCT GTCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 HG01109.hp2 HG02451.hp1 others(2): Show HG01074.hp2 HG01109.hp2 HG02451.hp1 HG02895.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0183 a0003c0003t0001g0196 a0003c0003t0003g0037 others(1): Show a0003c0003t0001g0183 a0003c0003t0001g0196 a0003c0003t0003g0037 a0003c0003t0003g0197	5	378	0.0132	-3	c.56_ others(8): Show c.56_58delAGA	p.Lys others(5): Show p.Lys19del	IFT46	ENSG00000118096.10	transcript	ENST00000264021.8	protein_coding	4/12	332/1562	56/915	19/304		chr11	TogoVar
IGFL4_chr19_46034182_46046002	46040269	TGGAAGCA others(5): Show TGGAAGCAGGGCC	T T	stop_gained others(1): Show stop_gained disruptive_inframe_deletion	HIGH	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0018 a0004c0006t0001g0018	1	452	0.0022	-12	c.206 others(19): Show c.206_217delGGCCCTGCTTCC	p.Trp others(17): Show p.Trp69_Gln73delinsTer	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding	3/4	257/1125	206/375	69/124		chr19	TogoVar
IL21R_chr16_27397174_27457042	27448643	CCAAGAGG others(137): Show CCAAGAGGCTGCAGCTCACGGAGCTACAAGAACCAGCAGAGCTGGTGGAG TCTGACGGTGTGCCCAAGCCCAGCTTCTGGCCGACAGCCCAGAACTCGGG GGGCTCAGCTTACAGTGAGGAGAGGGATCGGCCATACGGCCTGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0007 a0005c0009t0007	a0005c0009t0007g0229 a0005c0009t0007g0229	1	370	0.0027	-144	c.978 others(8): Show c.978_1121del	p.Lys others(13): Show p.Lys327_Val374del	IL21R	ENSG00000103522.17	transcript	ENST00000337929.8	protein_coding	9/9	1439/4837	978/1617	326/538		chr16	TogoVar
IL9R_chrX_155992696_156015817	156010133	GAGC GAGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp1 HG02280.hp2 HG02630.hp2 others(8): Show HG02257.hp1 HG02280.hp2 HG02630.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03486.hp1 HG06807.hp2 NA19030.hp2 NA20129.hp1	a0004 a0016 a0004 a0016	a0004c0005 a0004c0007 a0004c0014 others(1): Show a0004c0005 a0004c0007 a0004c0014 a0016c0024	a0004c0005t0001 a0004c0007t0001 a0004c0014t0001 others(1): Show a0004c0005t0001 a0004c0007t0001 a0004c0014t0001 a0016c0024t0001	a0004c0005t0001g0030 a0004c0005t0001g0095 a0004c0005t0001g0100 others(4): Show a0004c0005t0001g0030 a0004c0005t0001g0095 a0004c0005t0001g0100 a0004c0005t0001g0110 a0004c0007t0001g0008 a0004c0014t0001g0082 a0016c0024t0001g0079	11	97	0.1134	-3	c.131 others(12): Show c.1313_1315delGCA	p.Ser others(6): Show p.Ser438del	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1377/2038	1313/1566	438/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
INAFM1_chr19_47269885_47280723	47274946	CGGCGCCG others(11): Show CGGCGCCGAGAGCCCCGGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0000 a0010c0011t0002g0000	1	392	0.0026	-18	c.33_ others(23): Show c.33_50delCGAGAGCCCCGGAGGCGC	p.Glu others(11): Show p.Glu12_Ala17del	INAFM1	ENSG00000257704.4	transcript	ENST00000552360.4	protein_coding	1/1	68/839	33/429	11/142	INFO_REALIGN_3_PRIME	chr19	TogoVar
INCENP_chr11_62119011_62158169	62146762	GGAGCAGG others(23): Show GGAGCAGGAGCGGCGGGAGCAGGAGCGGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0021 a0013c0016t0001g0021	2	356	0.0056	-30	c.207 others(39): Show c.2079_2108delGGAGCAGGAGCGGCGCGAGCAGGAGCGGCG	p.Glu others(13): Show p.Glu694_Arg703del	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	15/19	2243/4114	2079/2757	693/918	INFO_REALIGN_3_PRIME	chr11	TogoVar
INCENP_chr11_62119011_62158169	62146777	GGAGCAGG others(8): Show GGAGCAGGAGCGGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG03098.hp2 HG00099.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0145 a0001c0002t0001g0045 a0001c0001t0001g0145 a0001c0002t0001g0045	2	348	0.0057	-15	c.210 others(24): Show c.2109_2123delCGAGCAGGAGCGGCG	p.Glu others(13): Show p.Glu704_Arg708del	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	15/19	2273/4114	2109/2757	703/918	INFO_REALIGN_3_PRIME	chr11	TogoVar
INCENP_chr11_62119011_62158169	62146777	GGAGCAGG others(23): Show GGAGCAGGAGCGGCGCGAGCAGGAGCGGCGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0109 a0006c0009t0001g0109	1	347	0.0029	-30	c.209 others(39): Show c.2094_2123delCGAGCAGGAGCGGCGCGAGCAGGAGCGGCG	p.Glu others(13): Show p.Glu699_Arg708del	INCENP	ENSG00000149503.13	transcript	ENST00000394818.8	protein_coding	15/19	2258/4114	2094/2757	698/918	INFO_REALIGN_3_PRIME	chr11	TogoVar
INF2_chr14_104684618_104727535	104707525	ACCCCAC ACCCCAC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG01099.hp2 HG01243.hp2 others(16): Show HG00735.hp2 HG01099.hp2 HG01243.hp2 HG01884.hp1 HG01934.hp1 HG02074.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03540.hp2 NA18522.hp1 NA18949.hp1 NA20752.hp2 NA20905.hp1	a0003 a0004 a0003 a0004	a0003c0010 a0003c0019 a0003c0042 others(4): Show a0003c0010 a0003c0019 a0003c0042 a0003c0043 a0003c0044 a0003c0045 a0004c0006	a0003c0010t0016 a0003c0010t0068 a0003c0010t0069 others(10): Show a0003c0010t0016 a0003c0010t0068 a0003c0010t0069 a0003c0019t0019 a0003c0019t0020 a0003c0042t0020 a0003c0043t0011 a0003c0044t0046 a0003c0045t0016 a0004c0006t0011 a0004c0006t0029 a0004c0006t0030 a0004c0006t0045	a0003c0010t0016g0053 a0003c0010t0016g0054 a0003c0010t0016g0229 others(14): Show a0003c0010t0016g0053 a0003c0010t0016g0054 a0003c0010t0016g0229 a0003c0010t0068g0230 a0003c0010t0069g0053 a0003c0019t0019g0029 a0003c0019t0020g0091 a0003c0042t0020g0093 a0003c0043t0011g0096 a0003c0044t0046g0095 a0003c0045t0016g0054 a0004c0006t0011g0070 a0004c0006t0011g0104 a0004c0006t0029g0030 a0004c0006t0030g0094 a0004c0006t0030g0097 a0004c0006t0045g0092	19	343	0.0554	-6	c.128 others(15): Show c.1280_1285delCACCCC	p.Pro others(13): Show p.Pro427_Pro428del	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	8/23	1411/7623	1280/3750	427/1249	INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104707525	ACCCCACC others(5): Show ACCCCACCCCCAC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(31): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00673.hp2 HG01106.hp2 HG01109.hp2 HG01257.hp2 HG01361.hp2 HG01433.hp2 HG02083.hp2 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18967.hp2 NA18970.hp1 NA18981.hp1 NA18985.hp1 NA19000.hp2 NA19030.hp2 NA19065.hp1 NA20752.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0002c0013 a0002c0046 others(3): Show a0002c0003 a0002c0013 a0002c0046 a0002c0047 a0002c0048 a0014c0049	a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 others(10): Show a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0002c0003t0028 a0002c0003t0034 a0002c0003t0041 a0002c0003t0042 a0002c0003t0074 a0002c0013t0013 a0002c0046t0001 a0002c0047t0003 a0002c0048t0043 a0014c0049t0007	a0002c0003t0005g0007 a0002c0003t0005g0051 a0002c0003t0005g0052 others(22): Show a0002c0003t0005g0007 a0002c0003t0005g0051 a0002c0003t0005g0052 a0002c0003t0005g0219 a0002c0003t0005g0220 a0002c0003t0005g0223 a0002c0003t0005g0224 a0002c0003t0005g0225 a0002c0003t0005g0228 a0002c0003t0007g0027 a0002c0003t0007g0057 a0002c0003t0008g0007 a0002c0003t0008g0012 a0002c0003t0028g0007 a0002c0003t0028g0221 a0002c0003t0034g0034 a0002c0003t0041g0007 a0002c0003t0042g0216 a0002c0003t0074g0012 a0002c0013t0013g0019 a0002c0013t0013g0172 a0002c0046t0001g0173 a0002c0047t0003g0077 a0002c0048t0043g0231 a0014c0049t0007g0119	34	358	0.0950	-12	c.127 others(21): Show c.1274_1285delCACCCCCACCCC	p.Pro others(13): Show p.Pro425_Pro428del	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	8/23	1405/7623	1274/3750	425/1249	INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104707547	CACCCCT CACCCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG02109.hp1 HG03139.hp2 others(1): Show HG02055.hp1 HG02109.hp1 HG03139.hp2 NA18906.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0022 a0009c0012t0001 a0009c0012t0022	a0009c0012t0001g0121 a0009c0012t0022g0035 a0009c0012t0022g0123 a0009c0012t0001g0121 a0009c0012t0022g0035 a0009c0012t0022g0123	4	378	0.0106	-6	c.128 others(15): Show c.1281_1286delACCCCT	p.Pro others(13): Show p.Pro428_Leu429del	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	8/23	1412/7623	1281/3750	427/1249		chr14	TogoVar
INTS1_chr7_1465277_1509389	1497225	CTGCTTGA others(38): Show CTGCTTGATGATCTCCCGCAGCAGGGCCCGCGAGGCCCGCAGGTAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02056.hp2 HG02056.hp2	a0008 a0008	a0008c0032 a0008c0032	a0008c0032t0003 a0008c0032t0003	a0008c0032t0003g0190 a0008c0032t0003g0190	1	314	0.0032	-45	c.147 others(54): Show c.1470_1514delCTACCTGCGGGCCTCGCGGGCCCTGCTGCGGGAGAT CATCAAGCA	p.Asp others(19): Show p.Asp490_Gln505delinsGlu	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	11/48	1622/6981	1470/6573	490/2190		chr7	TogoVar
IQCE_chr7_2553979_2619728	2605877	GCTCTCCT others(56): Show GCTCTCCTGTGCCCCGCGTTCCGAGCCCCATCGCCCAGGCCACGGGCAGC CCTGTGCAGGAGGA	G G	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0022 a0022	a0022c0042 a0022c0042	a0022c0042t0018 a0022c0042t0018	a0022c0042t0018g0146 a0022c0042t0018g0146	1	414	0.0024	-63	c.174 others(72): Show c.1746_1808delCTCTCCTGTGCCCCGCGTTCCGAGCCCCATCGCCCA GGCCACGGGCAGCCCTGTGCAGGAGGA	p.Ser others(19): Show p.Ser582_Glu603delinsArg	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	20/22	1949/6857	1746/2088	582/695		chr7	TogoVar
IRF2BPL_chr14_77019543_77033708	77027304	AGCG AGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00558.hp2 HG01081.hp1 others(16): Show HG00140.hp2 HG00558.hp2 HG01081.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03669.hp1 NA18975.hp1 NA19000.hp1 NA19082.hp2 NA20905.hp1 NA21309.hp1	a0003 a0006 a0003 a0006	a0003c0005 a0006c0008 a0003c0005 a0006c0008	a0003c0005t0006 a0003c0005t0022 a0003c0005t0026 others(2): Show a0003c0005t0006 a0003c0005t0022 a0003c0005t0026 a0003c0005t0032 a0006c0008t0006	a0003c0005t0006g0000 a0003c0005t0022g0000 a0003c0005t0026g0000 others(2): Show a0003c0005t0006g0000 a0003c0005t0022g0000 a0003c0005t0026g0000 a0003c0005t0032g0000 a0006c0008t0006g0000	19	350	0.0543	-3	c.486 others(10): Show c.486_488delCGC	p.Ala others(6): Show p.Ala163del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1404/4166	486/2391	162/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027304	AGCGGCGG others(2): Show AGCGGCGGCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02486.hp1 HG03486.hp1 HG02258.hp1 HG02486.hp1 HG03486.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0028 a0008c0010t0002 a0008c0010t0028	a0008c0010t0002g0000 a0008c0010t0028g0000 a0008c0010t0002g0000 a0008c0010t0028g0000	3	334	0.0090	-9	c.480 others(16): Show c.480_488delCGCCGCCGC	p.Ala others(13): Show p.Ala161_Ala163del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1404/4166	480/2391	160/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027418	TTGC TTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp1 HG02602.hp2 HG02615.hp1 others(6): Show HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG03195.hp2 HG03491.hp2 HG06807.hp1 NA19240.hp1	a0004 a0004	a0004c0006 a0004c0014 a0004c0006 a0004c0014	a0004c0006t0008 a0004c0006t0010 a0004c0006t0011 others(2): Show a0004c0006t0008 a0004c0006t0010 a0004c0006t0011 a0004c0006t0017 a0004c0014t0030	a0004c0006t0008g0000 a0004c0006t0010g0000 a0004c0006t0011g0000 others(2): Show a0004c0006t0008g0000 a0004c0006t0010g0000 a0004c0006t0011g0000 a0004c0006t0017g0000 a0004c0014t0030g0000	9	234	0.0385	-3	c.372 others(10): Show c.372_374delGCA	p.Gln others(6): Show p.Gln125del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1290/4166	372/2391	124/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027418	TTGCTGC TTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(172): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0002 a0003 a0007 others(3): Show a0002 a0003 a0007 a0008 a0011 a0013	a0002c0002 a0002c0003 a0002c0009 others(9): Show a0002c0002 a0002c0003 a0002c0009 a0002c0016 a0002c0017 a0002c0018 a0002c0019 a0003c0005 a0007c0011 a0008c0010 a0011c0033 a0013c0023	a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 others(28): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0003t0002 a0002c0003t0005 a0002c0003t0013 a0002c0003t0021 a0002c0009t0020 a0002c0009t0027 a0002c0016t0002 a0002c0017t0013 a0002c0018t0031 a0002c0019t0005 a0003c0005t0006 a0003c0005t0022 a0003c0005t0026 a0003c0005t0032 a0007c0011t0002 a0008c0010t0002 a0008c0010t0028 a0011c0033t0002 a0013c0023t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0008g0000 others(28): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0008g0000 a0002c0002t0009g0000 a0002c0002t0011g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0016g0000 a0002c0002t0017g0000 a0002c0002t0018g0000 a0002c0002t0019g0000 a0002c0003t0002g0000 a0002c0003t0005g0000 a0002c0003t0013g0000 a0002c0003t0021g0000 a0002c0009t0020g0000 a0002c0009t0027g0000 a0002c0016t0002g0000 a0002c0017t0013g0000 a0002c0018t0031g0000 a0002c0019t0005g0000 a0003c0005t0006g0000 a0003c0005t0022g0000 a0003c0005t0026g0000 a0003c0005t0032g0000 a0007c0011t0002g0000 a0008c0010t0002g0000 a0008c0010t0028g0000 a0011c0033t0002g0000 a0013c0023t0002g0000	175	400	0.4375	-6	c.369 others(13): Show c.369_374delGCAGCA	p.Gln others(13): Show p.Gln124_Gln125del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1290/4166	369/2391	123/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027439	CTGCTGCT others(5): Show CTGCTGCTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp2 HG02451.hp2 HG02615.hp2 others(6): Show HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02886.hp2 HG03139.hp2 HG03486.hp2 HG03579.hp2 NA18961.hp2 NA19007.hp1	a0005 a0005	a0005c0007 a0005c0012 a0005c0007 a0005c0012	a0005c0007t0010 a0005c0012t0001 a0005c0007t0010 a0005c0012t0001	a0005c0007t0010g0000 a0005c0012t0001g0000 a0005c0007t0010g0000 a0005c0012t0001g0000	9	412	0.0218	-12	c.342 others(19): Show c.342_353delACAGCAGCAGCA	p.Gln others(13): Show p.Gln115_Gln118del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1269/4166	342/2391	114/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027445	CTGCTGT CTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp2 HG02074.hp1 NA18942.hp2 others(4): Show HG02015.hp2 HG02074.hp1 NA18942.hp2 NA18951.hp1 NA18975.hp2 NA18992.hp1 NA19010.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0013 a0001c0004t0002 a0001c0004t0013	a0001c0004t0002g0000 a0001c0004t0013g0000 a0001c0004t0002g0000 a0001c0004t0013g0000	7	253	0.0277	-6	c.342 others(13): Show c.342_347delACAGCA	p.Gln others(13): Show p.Gln115_Gln116del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1263/4166	342/2391	114/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027448	CTGT CTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(156): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp2 HG02976.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2	a0001 a0006 a0009 others(3): Show a0001 a0006 a0009 a0010 a0012 a0014	a0001c0001 a0001c0004 a0001c0013 others(8): Show a0001c0001 a0001c0004 a0001c0013 a0001c0025 a0001c0027 a0001c0032 a0006c0008 a0009c0031 a0010c0030 a0012c0024 a0014c0026	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0004t0002 a0001c0013t0001 a0001c0025t0015 a0001c0027t0004 a0001c0032t0004 a0006c0008t0006 a0009c0031t0001 a0010c0030t0001 a0012c0024t0007 a0014c0026t0001	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0007g0000 others(21): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0015g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0025g0000 a0001c0001t0035g0000 a0001c0001t0036g0000 a0001c0001t0037g0000 a0001c0001t0038g0000 a0001c0001t0040g0000 a0001c0001t0041g0000 a0001c0001t0042g0000 a0001c0004t0002g0000 a0001c0013t0001g0000 a0001c0025t0015g0000 a0001c0027t0004g0000 a0001c0032t0004g0000 a0006c0008t0006g0000 a0009c0031t0001g0000 a0010c0030t0001g0000 a0012c0024t0007g0000 a0014c0026t0001g0000	159	410	0.3878	-3	c.342 others(10): Show c.342_344delACA	p.Gln others(6): Show p.Gln115del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1260/4166	342/2391	114/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027466	CTGCTGTT others(5): Show CTGCTGTTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18985.hp1 NA18985.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0002 a0013c0023t0002	a0013c0023t0002g0000 a0013c0023t0002g0000	1	407	0.0025	-12	c.315 others(19): Show c.315_326delACAGCAACAGCA	p.Gln others(13): Show p.Gln106_Gln109del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1242/4166	315/2391	105/796		chr14	TogoVar
IRF2BPL_chr14_77019543_77033708	77027502	GGCCGCCG others(5): Show GGCCGCCGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03831.hp1 HG03831.hp1	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0001 a0010c0030t0001	a0010c0030t0001g0000 a0010c0030t0001g0000	1	412	0.0024	-12	c.279 others(19): Show c.279_290delAGCAGCGGCGGC	p.Ala others(11): Show p.Ala94_Ala97del	IRF2BPL	ENSG00000119669.5	transcript	ENST00000238647.5	protein_coding	1/1	1206/4166	279/2391	93/796		chr14	TogoVar
IRF5_chr7_128932927_128955038	128947297	CACTCTGC others(23): Show CACTCTGCAGCCGCCCACTCTGCGGCCGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(203): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(106): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0002g0025 a0001c0001t0002g0116 a0001c0001t0004g0037 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0010g0026 a0001c0001t0011g0183 a0001c0001t0012g0021 a0001c0001t0013g0186 a0001c0001t0017g0182 a0001c0003t0004g0187 a0001c0003t0004g0189 a0001c0004t0001g0035 a0001c0004t0001g0122 a0001c0005t0001g0051 a0001c0007t0001g0140 a0001c0008t0001g0036 a0001c0011t0001g0143	206	402	0.5124	-30	c.572 others(37): Show c.572_601delGGCCGCCTACTCTGCAGCCGCCCACTCTGC	p.Arg others(13): Show p.Arg191_Leu200del	IRF5	ENSG00000128604.21	transcript	ENST00000357234.10	protein_coding	6/9	706/2899	572/1545	191/514	INFO_REALIGN_3_PRIME	chr7	TogoVar
IST1_chr16_71890531_71936199	71922608	AATGCCC AATGCCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(117): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01884.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA19003.hp1 NA19007.hp1 NA19011.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0003 a0002c0005 others(1): Show a0002c0002 a0002c0003 a0002c0005 a0004c0006	a0002c0002t0002 a0002c0002t0016 a0002c0002t0017 others(16): Show a0002c0002t0002 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0031 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0002c0003t0020 a0002c0003t0028 a0002c0003t0029 a0002c0005t0002 a0004c0006t0007 a0004c0006t0021	a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0009 others(98): Show a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0018 a0002c0002t0002g0023 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0146 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0278 a0002c0002t0016g0018 a0002c0002t0017g0003 a0002c0002t0018g0105 a0002c0002t0031g0001 a0002c0003t0001g0045 a0002c0003t0001g0189 a0002c0003t0001g0213 a0002c0003t0001g0215 a0002c0003t0001g0227 a0002c0003t0001g0231 a0002c0003t0001g0249 a0002c0003t0001g0253 a0002c0003t0001g0257 a0002c0003t0001g0260 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0002g0145 a0002c0003t0003g0016 a0002c0003t0003g0094 a0002c0003t0003g0096 a0002c0003t0003g0097 a0002c0003t0003g0098 a0002c0003t0003g0100 a0002c0003t0004g0055 a0002c0003t0005g0152 a0002c0003t0007g0008 a0002c0003t0007g0080 a0002c0003t0007g0081 a0002c0003t0007g0084 a0002c0003t0007g0177 a0002c0003t0008g0222 a0002c0003t0010g0020 a0002c0003t0020g0064 a0002c0003t0028g0031 a0002c0003t0029g0082 a0002c0005t0002g0017 a0002c0005t0002g0102 a0002c0005t0002g0103 a0002c0005t0002g0113 a0004c0006t0007g0008 a0004c0006t0021g0079	120	338	0.3550	-6	c.705 others(13): Show c.705_710delCATGCC	p.Met others(13): Show p.Met236_Pro237del	IST1	ENSG00000182149.21	transcript	ENST00000378799.11	protein_coding	7/10	779/4561	705/1101	235/366	INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB5_chr3_124756948_124892365	124763647	TTTGTTGA others(2): Show TTTGTTGAAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00733.hp2 HG00741.hp2 HG01069.hp1 others(26): Show HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01099.hp2 HG01361.hp2 HG01515.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG02080.hp2 HG02602.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03927.hp1 HG04228.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18979.hp2 NA18994.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19009.hp1 NA19068.hp2 NA19081.hp1	a0003 a0005 a0008 others(1): Show a0003 a0005 a0008 a0009	a0003c0004 a0003c0025 a0005c0010 others(2): Show a0003c0004 a0003c0025 a0005c0010 a0008c0024 a0009c0018	a0003c0004t0004 a0003c0004t0010 a0003c0025t0004 others(3): Show a0003c0004t0004 a0003c0004t0010 a0003c0025t0004 a0005c0010t0004 a0008c0024t0004 a0009c0018t0001	a0003c0004t0004g0018 a0003c0004t0004g0019 a0003c0004t0004g0023 others(26): Show a0003c0004t0004g0018 a0003c0004t0004g0019 a0003c0004t0004g0023 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0004g0027 a0003c0004t0004g0028 a0003c0004t0004g0030 a0003c0004t0004g0033 a0003c0004t0004g0034 a0003c0004t0004g0035 a0003c0004t0004g0036 a0003c0004t0004g0038 a0003c0004t0004g0040 a0003c0004t0004g0041 a0003c0004t0004g0048 a0003c0004t0004g0049 a0003c0004t0004g0050 a0003c0004t0004g0051 a0003c0004t0004g0054 a0003c0004t0004g0060 a0003c0004t0004g0062 a0003c0004t0004g0258 a0003c0004t0004g0344 a0003c0004t0010g0044 a0003c0025t0004g0017 a0005c0010t0004g0351 a0008c0024t0004g0021 a0009c0018t0001g0181	29	350	0.0829	-9	c.236 others(18): Show c.2367_2375delGTTCAACAA	p.Phe others(13): Show p.Phe790_Lys792del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	15/15	2740/4440	2367/2400	789/799		chr3	TogoVar
ITPKB_chr1_226626690_226744282	226737174	ACTGCCGC others(2): Show ACTGCCGCTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(107): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0014 a0017 a0001 a0014 a0017	a0001c0001 a0001c0008 a0001c0025 others(3): Show a0001c0001 a0001c0008 a0001c0025 a0001c0026 a0014c0027 a0017c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0008t0004 a0001c0008t0041 a0001c0008t0043 a0001c0025t0001 a0001c0026t0038 a0014c0027t0003 a0017c0028t0004	a0001c0001t0001g0039 a0001c0001t0001g0239 a0001c0001t0001g0242 others(104): Show a0001c0001t0001g0039 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0274 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0005 a0001c0001t0002g0238 a0001c0001t0002g0247 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0309 a0001c0001t0003g0004 a0001c0001t0003g0045 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0248 a0001c0001t0003g0255 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0279 a0001c0001t0003g0297 a0001c0001t0003g0299 a0001c0001t0003g0304 a0001c0001t0003g0307 a0001c0001t0003g0325 a0001c0001t0004g0041 a0001c0001t0004g0232 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0295 a0001c0001t0004g0303 a0001c0001t0005g0003 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0260 a0001c0001t0006g0285 a0001c0001t0006g0288 a0001c0001t0006g0290 a0001c0001t0006g0293 a0001c0001t0006g0323 a0001c0001t0009g0261 a0001c0001t0011g0044 a0001c0001t0011g0233 a0001c0001t0011g0254 a0001c0001t0011g0291 a0001c0001t0013g0276 a0001c0001t0013g0277 a0001c0001t0014g0010 a0001c0001t0014g0275 a0001c0001t0015g0249 a0001c0001t0015g0253 a0001c0001t0015g0264 a0001c0001t0015g0267 a0001c0001t0019g0011 a0001c0001t0019g0231 a0001c0001t0024g0289 a0001c0001t0025g0281 a0001c0001t0030g0006 a0001c0001t0039g0268 a0001c0001t0040g0310 a0001c0001t0042g0237 a0001c0001t0045g0311 a0001c0001t0046g0257 a0001c0001t0049g0009 a0001c0001t0052g0251 a0001c0001t0053g0308 a0001c0001t0054g0273 a0001c0008t0004g0315 a0001c0008t0004g0318 a0001c0008t0041g0317 a0001c0008t0043g0316 a0001c0025t0001g0228 a0001c0026t0038g0246 a0014c0027t0003g0314 a0017c0028t0004g0319	110	348	0.3161	-9	c.276 others(16): Show c.276_284delCAGCGGCAG	p.Ser others(11): Show p.Ser93_Ser95del	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding	2/8	731/6269	276/2841	92/946		chr1	TogoVar
IVL_chr1_152903546_152916886	152910295	AGAGCAGC others(23): Show AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG01257.hp1 HG00140.hp1 HG01257.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0001 a0012c0015t0001g0001	2	424	0.0047	-30	c.513 others(37): Show c.513_542delACAGCTGAAGCACCCGGAGCAGCAGGAGGG	p.Gln others(13): Show p.Gln172_Gly181del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	576/2152	513/1758	171/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910506	CAGCAGCA others(23): Show CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	149	0.0067	-30	c.753 others(37): Show c.753_782delGCAGCTGGAGCTCTCTGAGCAGCAGGAGGG	p.Gln others(13): Show p.Gln252_Gly261del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	816/2152	753/1758	251/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910837	AGCAGCAG others(5): Show AGCAGCAGGAGGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19043.hp2 NA19043.hp2	a0024 a0024	a0024c0022 a0024c0022	a0024c0022t0001 a0024c0022t0001	a0024c0022t0001g0001 a0024c0022t0001g0001	1	424	0.0024	-12	c.104 others(21): Show c.1046_1057delAGGAGGGGCAGC	p.Gln others(13): Show p.Gln349_Gln352del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	1109/2152	1046/1758	349/585	INFO_REALIGN_3_PRIME	chr1	TogoVar
JMJD1C_chr10_63162225_63470977	63208190	ACTAAAC ACTAAAC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00544.hp2 HG00609.hp1 others(39): Show HG00099.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG01175.hp2 HG01256.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02165.hp2 HG02273.hp1 HG03831.hp2 NA18946.hp1 NA18947.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18985.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19054.hp2 NA19060.hp1 NA19068.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1	a0003 a0008 a0012 a0003 a0008 a0012	a0003c0003 a0003c0035 a0008c0009 others(1): Show a0003c0003 a0003c0035 a0008c0009 a0012c0014	a0003c0003t0001 a0003c0035t0001 a0008c0009t0001 others(1): Show a0003c0003t0001 a0003c0035t0001 a0008c0009t0001 a0012c0014t0001	a0003c0003t0001g0165 a0003c0003t0001g0167 a0003c0003t0001g0168 others(39): Show a0003c0003t0001g0165 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0207 a0003c0035t0001g0206 a0008c0009t0001g0188 a0008c0009t0001g0190 a0008c0009t0001g0192 a0008c0009t0001g0195 a0008c0009t0001g0196 a0012c0014t0001g0177 a0012c0014t0001g0205	42	308	0.1364	-6	c.347 others(15): Show c.3473_3478delGTTTAG	p.Gly others(15): Show p.Gly1158_Leu1159del	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	10/26	3793/8758	3473/7623	1158/2540		chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63214835	TTCA TTCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp2 HG02257.hp1 HG02895.hp1 others(5): Show HG01081.hp2 HG02257.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03139.hp2 HG03579.hp2 NA19043.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0108 a0006c0006t0001g0109 a0006c0006t0001g0110 others(5): Show a0006c0006t0001g0108 a0006c0006t0001g0109 a0006c0006t0001g0110 a0006c0006t0001g0111 a0006c0006t0001g0112 a0006c0006t0001g0113 a0006c0006t0001g0114 a0006c0006t0001g0115	8	308	0.0260	-3	c.132 others(12): Show c.1329_1331delTGA	p.His others(19): Show p.His443_Glu444delinsGln	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	8/26	1646/8758	1329/7623	443/2540		chr10	TogoVar
JSRP1_chr19_2247252_2261417	2253751	GGCGCGGT others(14): Show GGCGCGGTCTGCGCCTTCTTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp2 HG02818.hp1 HG03579.hp2 HG02630.hp2 HG02818.hp1 HG03579.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0030 a0006c0009t0001g0065 a0006c0009t0001g0030 a0006c0009t0001g0065	3	434	0.0069	-21	c.284 others(28): Show c.284_304delGCAAGAAGGCGCAGACCGCGC	p.Arg others(12): Show p.Arg95_Ala101del	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding	5/7	369/1138	284/996	95/331		chr19	TogoVar
JUND_chr19_18274694_18286622	18280864	CGCGCCCC others(2): Show CGCGCCCCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01358.hp2 HG02145.hp2 HG02155.hp2 others(1): Show HG01358.hp2 HG02145.hp2 HG02155.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0008 a0002c0002t0001 a0002c0002t0006 a0002c0002t0008	a0002c0002t0001g0000 a0002c0002t0006g0000 a0002c0002t0008g0000 a0002c0002t0001g0000 a0002c0002t0006g0000 a0002c0002t0008g0000	4	406	0.0099	-9	c.612 others(16): Show c.612_620delCGGGGGCGC	p.Gly others(13): Show p.Gly205_Ala207del	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding	1/1	758/1929	612/1044	204/347		chr19	TogoVar
KANK3_chr19_8317584_8348262	8325008	GTCC GTCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00733.hp2 HG01074.hp2 others(60): Show HG00099.hp2 HG00733.hp2 HG01074.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03834.hp1 HG03942.hp1 NA18522.hp1 NA18941.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18964.hp2 NA18980.hp2 NA18982.hp1 NA18993.hp2 NA19011.hp2 NA19054.hp2 NA19062.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0004 a0006 a0009 others(1): Show a0004 a0006 a0009 a0014	a0004c0004 a0004c0009 a0004c0019 others(5): Show a0004c0004 a0004c0009 a0004c0019 a0004c0020 a0004c0033 a0006c0006 a0009c0013 a0014c0021	a0004c0004t0002 a0004c0009t0002 a0004c0019t0002 others(5): Show a0004c0004t0002 a0004c0009t0002 a0004c0019t0002 a0004c0020t0004 a0004c0033t0004 a0006c0006t0002 a0009c0013t0004 a0014c0021t0004	a0004c0004t0002g0023 a0004c0004t0002g0024 a0004c0004t0002g0025 others(57): Show a0004c0004t0002g0023 a0004c0004t0002g0024 a0004c0004t0002g0025 a0004c0004t0002g0254 a0004c0004t0002g0255 a0004c0004t0002g0263 a0004c0004t0002g0264 a0004c0004t0002g0265 a0004c0004t0002g0272 a0004c0004t0002g0274 a0004c0004t0002g0275 a0004c0004t0002g0276 a0004c0004t0002g0277 a0004c0004t0002g0278 a0004c0004t0002g0281 a0004c0004t0002g0282 a0004c0004t0002g0284 a0004c0004t0002g0285 a0004c0004t0002g0286 a0004c0004t0002g0287 a0004c0004t0002g0291 a0004c0004t0002g0292 a0004c0004t0002g0293 a0004c0009t0002g0091 a0004c0009t0002g0137 a0004c0009t0002g0158 a0004c0009t0002g0162 a0004c0009t0002g0175 a0004c0019t0002g0273 a0004c0020t0004g0358 a0004c0033t0004g0086 a0006c0006t0002g0166 a0006c0006t0002g0256 a0006c0006t0002g0257 a0006c0006t0002g0258 a0006c0006t0002g0259 a0006c0006t0002g0260 a0006c0006t0002g0261 a0006c0006t0002g0262 a0006c0006t0002g0266 a0006c0006t0002g0267 a0006c0006t0002g0268 a0006c0006t0002g0269 a0006c0006t0002g0270 a0006c0006t0002g0271 a0006c0006t0002g0279 a0006c0006t0002g0280 a0006c0006t0002g0283 a0006c0006t0002g0288 a0006c0006t0002g0289 a0006c0006t0002g0290 a0006c0006t0002g0294 a0006c0006t0002g0295 a0006c0006t0002g0297 a0006c0006t0002g0322 a0009c0013t0004g0062 a0009c0013t0004g0063 a0009c0013t0004g0064 a0009c0013t0004g0065 a0014c0021t0004g0296	63	404	0.1559	-3	c.202 others(12): Show c.2022_2024delGGA	p.Glu others(6): Show p.Glu674del	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	8/11	2090/2787	2022/2466	674/821		chr19	TogoVar
KANK3_chr19_8317584_8348262	8334065	CTCGCTGT others(5): Show CTCGCTGTCGCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(137): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19062.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0013 others(1): Show a0002 a0003 a0013 a0015	a0002c0002 a0003c0003 a0003c0011 others(4): Show a0002c0002 a0003c0003 a0003c0011 a0003c0016 a0003c0026 a0013c0032 a0015c0025	a0002c0002t0001 a0003c0003t0001 a0003c0003t0006 others(5): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0006 a0003c0011t0001 a0003c0016t0001 a0003c0026t0001 a0013c0032t0001 a0015c0025t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 others(114): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0088 a0002c0002t0001g0231 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0003c0003t0001g0002 a0003c0003t0001g0010 a0003c0003t0001g0026 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0218 a0003c0003t0001g0230 a0003c0003t0001g0253 a0003c0003t0001g0298 a0003c0003t0001g0299 a0003c0003t0001g0300 a0003c0003t0001g0301 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0305 a0003c0003t0001g0306 a0003c0003t0001g0307 a0003c0003t0001g0308 a0003c0003t0001g0309 a0003c0003t0001g0310 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0313 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0319 a0003c0003t0001g0360 a0003c0003t0001g0361 a0003c0003t0006g0314 a0003c0003t0006g0320 a0003c0011t0001g0022 a0003c0011t0001g0232 a0003c0011t0001g0233 a0003c0016t0001g0049 a0003c0016t0001g0050 a0003c0026t0001g0359 a0013c0032t0001g0244 a0015c0025t0001g0344	140	404	0.3465	-12	c.146 others(21): Show c.1467_1478delTGGCGACAGCGA	p.Asp others(13): Show p.Asp489_Ser492del	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	5/11	1544/2787	1467/2466	489/821		chr19	TogoVar
KAT2A_chr17_42108111_42126367	42118011	ACTGAAGC others(32): Show ACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG02615.hp2 HG02976.hp1 HG03098.hp2 others(10): Show HG02615.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03486.hp2 NA18906.hp1 NA18957.hp1 NA18977.hp1 NA19066.hp1 NA19077.hp2 NA19091.hp2 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0001 a0002c0002t0002 a0002c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0014t0001	a0002c0002t0001g0055 a0002c0002t0002g0006 a0002c0002t0002g0017 others(2): Show a0002c0002t0001g0055 a0002c0002t0002g0006 a0002c0002t0002g0017 a0002c0002t0002g0059 a0002c0014t0001g0026	13	352	0.0369	-39	c.118 others(51): Show c.1181-33_1186delCCCCCCATCCCTGACGTCTCTCTCTCTCCTCAG CTTCAG	p.Ala others(13): Show p.Ala394_Ser395del	KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding	8/18	1249/3115	1181/2514	394/837		chr17	TogoVar
KAT6A_chr8_41924479_42056987	41937278	ATCT ATCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18966.hp1 NA18978.hp2 NA18982.hp2 others(1): Show NA18966.hp1 NA18978.hp2 NA18982.hp2 NA19007.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0013 a0003c0006t0015 a0003c0006t0018 a0003c0006t0013 a0003c0006t0015 a0003c0006t0018	a0003c0006t0013g0296 a0003c0006t0015g0341 a0003c0006t0018g0347 others(1): Show a0003c0006t0013g0296 a0003c0006t0015g0341 a0003c0006t0018g0347 a0003c0006t0018g0360	4	372	0.0108	-3	c.332 others(12): Show c.3327_3329delAGA	p.Glu others(7): Show p.Glu1109del	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	16/17	3741/9153	3327/6015	1109/2004		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	2001456	GGAGGAGC others(11): Show GGAGGAGCTCGCGTCCCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02132.hp1 HG02132.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0136 a0003c0004t0001g0136	1	388	0.0026	-18	c.272 others(25): Show c.272_289delTCGCGTCCCCTGAGGAGC	p.Leu others(11): Show p.Leu91_Glu96del	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	2/2	1439/6911	272/1872	91/623	INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNA7_chr19_49062397_49077699	49070105	TGGA TGGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00597.hp1 HG00733.hp1 others(54): Show HG00423.hp2 HG00597.hp1 HG00733.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18952.hp2 NA18953.hp1 NA18982.hp1 NA19030.hp2 NA19043.hp1 NA19062.hp2 NA19079.hp1 NA19085.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0007	a0003c0003 a0003c0010 a0004c0004 others(2): Show a0003c0003 a0003c0010 a0004c0004 a0005c0005 a0007c0009	a0003c0003t0004 a0003c0003t0009 a0003c0003t0019 others(8): Show a0003c0003t0004 a0003c0003t0009 a0003c0003t0019 a0003c0003t0020 a0003c0003t0036 a0003c0003t0037 a0003c0010t0009 a0004c0004t0015 a0004c0004t0030 a0005c0005t0004 a0007c0009t0004	a0003c0003t0004g0004 a0003c0003t0004g0020 a0003c0003t0009g0011 others(10): Show a0003c0003t0004g0004 a0003c0003t0004g0020 a0003c0003t0009g0011 a0003c0003t0009g0054 a0003c0003t0019g0028 a0003c0003t0020g0029 a0003c0003t0036g0056 a0003c0003t0037g0057 a0003c0010t0009g0058 a0004c0004t0015g0017 a0004c0004t0030g0047 a0005c0005t0004g0019 a0007c0009t0004g0055	57	394	0.1447	-3	c.132 others(12): Show c.1326_1328delTCC	p.Pro others(6): Show p.Pro443del	KCNA7	ENSG00000104848.2	transcript	ENST00000221444.2	protein_coding	2/2	1442/4151	1326/1371	442/456		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79864067	CGCGCGGG others(5): Show CGCGCGGGGCCGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00673.hp1 NA19007.hp2 HG00673.hp1 NA19007.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0004 a0004c0008t0001 a0004c0008t0004	a0004c0008t0001g0042 a0004c0008t0004g0017 a0004c0008t0001g0042 a0004c0008t0004g0017	2	310	0.0065	-12	c.401 others(19): Show c.401_412delGCGCGGGGCCGA	p.Arg others(19): Show p.Arg134_Thr138delinsPro	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/4	592/1876	401/1401	134/466		chr18	TogoVar

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