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
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(14): Show ACAGCAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18954.hp2 NA18959.hp2 NA18954.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0008 a0001c0001t0001g0010	2	123	0.0163	21	c.148 others(30): Show c.1488_1508dupGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln496_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(17): Show ACAGCAGCAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	122	0.0082	24	c.148 others(33): Show c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln495_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(23): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18965.hp2 NA18965.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0002 a0014c0019t0001g0002	1	122	0.0082	30	c.147 others(39): Show c.1479_1508dupGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln493_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6AP1_chrX_154423677_154441516	154428787	T T	TGGCGGC TGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00642.hp1 HG01934.hp1 HG02109.hp1 others(18): Show HG00642.hp1 HG01934.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 NA21309.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 others(1): Show a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004	a0002c0003t0002g0007 a0002c0003t0002g0021 a0002c0003t0002g0042 others(8): Show a0002c0003t0002g0007 a0002c0003t0002g0021 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0004t0001g0003 a0002c0004t0002g0032 a0002c0004t0004g0018 a0002c0004t0004g0022 a0002c0004t0004g0023 a0002c0004t0004g0027 a0002c0004t0004g0037	21	299	0.0702	6	c.111 others(13): Show c.111_116dupGGCGGC	p.Ala others(11): Show p.Ala38_Ala39dup	ATP6AP1	ENSG00000071553.18	transcript	ENST00000369762.7	protein_coding	1/10	133/2054	117/1413	39/470	INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP8B2_chr1_154320525_154356304	154348432	A A	AGCCCACG others(5): Show AGCCCACGGTGTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18990.hp1 NA18990.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0001 a0011c0023t0001	a0011c0023t0001g0057 a0011c0023t0001g0057	1	380	0.0026	12	c.319 others(21): Show c.3191_3202dupCCACGGTGTGGC	p.Pro others(15): Show p.Pro1064_Trp1067dup	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding	27/28	3418/5974	3203/3573	1068/1190	INFO_REALIGN_3_PRIME	chr1	TogoVar
ATXN1_chr6_16294112_16766460	16327633	G G	GTGC GTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00423.hp2 HG00642.hp1 others(53): Show HG00140.hp1 HG00423.hp2 HG00642.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03688.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp1 NA18906.hp2 NA18946.hp2 NA18955.hp1 NA18986.hp2 NA19007.hp1 NA19030.hp2 NA19060.hp2 NA19062.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0010 others(8): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0034 a0001c0041 a0001c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0044 a0001c0008t0001 a0001c0008t0002 a0001c0008t0010 a0001c0008t0011 a0001c0008t0012 a0001c0008t0040 a0001c0008t0046 a0001c0008t0047 a0001c0010t0004 a0001c0010t0014 a0001c0010t0023 a0001c0010t0024 a0001c0012t0006 a0001c0012t0039 a0001c0012t0048 a0001c0019t0001 a0001c0020t0015 a0001c0032t0018 a0001c0033t0001 a0001c0034t0004 a0001c0041t0036 a0001c0042t0038	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(53): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0129 a0001c0001t0005g0085 a0001c0001t0010g0128 a0001c0001t0011g0131 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0001t0044g0118 a0001c0008t0001g0009 a0001c0008t0002g0013 a0001c0008t0002g0137 a0001c0008t0010g0038 a0001c0008t0011g0053 a0001c0008t0012g0148 a0001c0008t0040g0154 a0001c0008t0046g0062 a0001c0008t0047g0060 a0001c0010t0004g0050 a0001c0010t0004g0069 a0001c0010t0004g0086 a0001c0010t0004g0144 a0001c0010t0004g0161 a0001c0010t0014g0082 a0001c0010t0023g0023 a0001c0010t0024g0048 a0001c0012t0006g0008 a0001c0012t0006g0014 a0001c0012t0006g0052 a0001c0012t0006g0112 a0001c0012t0006g0113 a0001c0012t0039g0041 a0001c0012t0048g0031 a0001c0019t0001g0024 a0001c0019t0001g0107 a0001c0020t0015g0017 a0001c0020t0015g0125 a0001c0032t0018g0059 a0001c0033t0001g0012 a0001c0034t0004g0065 a0001c0041t0036g0095 a0001c0042t0038g0087	56	97	0.5773	3	c.675 others(10): Show c.675_677dupGCA	p.Gln others(6): Show p.Gln225dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1569/10557	677/2448	226/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327633	G G	GTGCTGC GTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(36): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG01109.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01978.hp1 HG02004.hp2 HG02056.hp2 HG02132.hp1 HG02258.hp1 HG02523.hp1 HG02809.hp2 HG02886.hp2 HG03209.hp2 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03834.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18944.hp2 NA18955.hp2 NA18972.hp2 NA18973.hp2 NA18986.hp1 NA19007.hp2 NA19009.hp1 NA19060.hp1 NA20300.hp1	a0003 a0003	a0003c0002 a0003c0009 a0003c0013 others(5): Show a0003c0002 a0003c0009 a0003c0013 a0003c0015 a0003c0021 a0003c0022 a0003c0035 a0003c0036	a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 others(19): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0008 a0003c0002t0009 a0003c0002t0010 a0003c0002t0016 a0003c0002t0041 a0003c0002t0043 a0003c0009t0001 a0003c0009t0017 a0003c0013t0001 a0003c0013t0002 a0003c0013t0007 a0003c0015t0004 a0003c0015t0025 a0003c0021t0004 a0003c0021t0014 a0003c0022t0001 a0003c0035t0001 a0003c0036t0004	a0003c0002t0001g0071 a0003c0002t0002g0089 a0003c0002t0002g0090 others(36): Show a0003c0002t0001g0071 a0003c0002t0002g0089 a0003c0002t0002g0090 a0003c0002t0003g0007 a0003c0002t0003g0061 a0003c0002t0003g0133 a0003c0002t0007g0136 a0003c0002t0008g0063 a0003c0002t0008g0081 a0003c0002t0008g0116 a0003c0002t0008g0138 a0003c0002t0008g0140 a0003c0002t0009g0094 a0003c0002t0010g0015 a0003c0002t0016g0111 a0003c0002t0041g0079 a0003c0002t0043g0175 a0003c0009t0001g0046 a0003c0009t0001g0073 a0003c0009t0001g0080 a0003c0009t0001g0084 a0003c0009t0001g0093 a0003c0009t0001g0174 a0003c0009t0001g0182 a0003c0009t0017g0121 a0003c0009t0017g0179 a0003c0013t0001g0117 a0003c0013t0002g0029 a0003c0013t0007g0011 a0003c0013t0007g0022 a0003c0015t0004g0044 a0003c0015t0004g0171 a0003c0015t0025g0142 a0003c0021t0004g0032 a0003c0021t0014g0102 a0003c0022t0001g0104 a0003c0022t0001g0146 a0003c0035t0001g0115 a0003c0036t0004g0067	39	80	0.4875	6	c.672 others(13): Show c.672_677dupGCAGCA	p.Gln others(13): Show p.Gln224_Gln225dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1569/10557	677/2448	226/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327684	A A	ATGC ATGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00438.hp1 HG00597.hp2 others(34): Show HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01255.hp2 HG02056.hp1 HG02135.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02970.hp1 HG03139.hp1 HG03209.hp2 HG03834.hp2 HG04115.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18993.hp2 NA19062.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0008 a0001c0010 others(13): Show a0001c0001 a0001c0008 a0001c0010 a0001c0032 a0001c0033 a0002c0003 a0002c0011 a0002c0030 a0003c0013 a0004c0005 a0004c0006 a0004c0014 a0004c0023 a0004c0026 a0005c0007 a0005c0017	a0001c0001t0010 a0001c0008t0002 a0001c0008t0010 others(21): Show a0001c0001t0010 a0001c0008t0002 a0001c0008t0010 a0001c0008t0011 a0001c0008t0040 a0001c0008t0046 a0001c0010t0024 a0001c0032t0018 a0001c0033t0001 a0002c0003t0031 a0002c0003t0033 a0002c0011t0001 a0002c0011t0007 a0002c0030t0011 a0003c0013t0002 a0004c0005t0002 a0004c0005t0008 a0004c0006t0002 a0004c0006t0009 a0004c0014t0001 a0004c0023t0002 a0004c0026t0001 a0005c0007t0005 a0005c0017t0001	a0001c0001t0010g0128 a0001c0008t0002g0013 a0001c0008t0002g0137 others(34): Show a0001c0001t0010g0128 a0001c0008t0002g0013 a0001c0008t0002g0137 a0001c0008t0010g0038 a0001c0008t0011g0053 a0001c0008t0040g0154 a0001c0008t0046g0062 a0001c0010t0024g0048 a0001c0032t0018g0059 a0001c0033t0001g0012 a0002c0003t0031g0058 a0002c0003t0033g0165 a0002c0011t0001g0034 a0002c0011t0007g0151 a0002c0030t0011g0047 a0003c0013t0002g0029 a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0005t0008g0068 a0004c0006t0002g0035 a0004c0006t0009g0110 a0004c0014t0001g0152 a0004c0014t0001g0157 a0004c0014t0001g0176 a0004c0023t0002g0101 a0004c0026t0001g0156 a0005c0007t0005g0078 a0005c0007t0005g0091 a0005c0007t0005g0092 a0005c0007t0005g0168 a0005c0017t0001g0074 a0005c0017t0001g0143	37	142	0.2606	3	c.624 others(10): Show c.624_626dupGCA	p.Gln others(6): Show p.Gln208dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1518/10557	626/2448	209/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327684	A A	ATGCTGAT others(2): Show ATGCTGATGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG01070.hp1 HG02451.hp2 HG00140.hp2 HG01070.hp1 HG02451.hp2	a0002 a0005 a0002 a0005	a0002c0011 a0005c0007 a0002c0011 a0005c0007	a0002c0011t0042 a0005c0007t0001 a0005c0007t0019 a0002c0011t0042 a0005c0007t0001 a0005c0007t0019	a0002c0011t0042g0026 a0005c0007t0001g0098 a0005c0007t0019g0001 a0002c0011t0042g0026 a0005c0007t0001g0098 a0005c0007t0019g0001	3	108	0.0278	9	c.626 others(16): Show c.626_627insGCATCAGCA	p.Gln others(22): Show p.Gln208_His209insGlnHisGln	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1518/10557	626/2448	209/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327684	A A	ATGCTGC ATGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00735.hp1 HG00735.hp2 others(17): Show HG00423.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01169.hp2 HG01255.hp1 HG01361.hp2 HG02132.hp2 HG02155.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02965.hp2 HG03098.hp1 HG03492.hp2 HG04199.hp1 NA18906.hp2 NA18952.hp2 NA18972.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0010 a0001c0012 others(6): Show a0001c0001 a0001c0010 a0001c0012 a0002c0011 a0003c0013 a0003c0022 a0004c0005 a0005c0007 a0005c0029	a0001c0001t0001 a0001c0010t0004 a0001c0010t0014 others(11): Show a0001c0001t0001 a0001c0010t0004 a0001c0010t0014 a0001c0012t0006 a0002c0011t0007 a0002c0011t0012 a0002c0011t0027 a0003c0013t0007 a0003c0022t0001 a0004c0005t0026 a0004c0005t0032 a0005c0007t0005 a0005c0007t0016 a0005c0029t0034	a0001c0001t0001g0181 a0001c0010t0004g0069 a0001c0010t0014g0082 others(17): Show a0001c0001t0001g0181 a0001c0010t0004g0069 a0001c0010t0014g0082 a0001c0012t0006g0008 a0001c0012t0006g0014 a0001c0012t0006g0052 a0001c0012t0006g0112 a0001c0012t0006g0113 a0002c0011t0007g0155 a0002c0011t0012g0135 a0002c0011t0027g0134 a0003c0013t0007g0022 a0003c0022t0001g0104 a0003c0022t0001g0146 a0004c0005t0026g0088 a0004c0005t0032g0099 a0005c0007t0005g0036 a0005c0007t0005g0100 a0005c0007t0016g0153 a0005c0029t0034g0139	20	125	0.1600	6	c.621 others(13): Show c.621_626dupGCAGCA	p.Gln others(13): Show p.Gln207_Gln208dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1518/10557	626/2448	209/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327684	A A	ATGCTGCT others(5): Show ATGCTGCTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02135.hp2 HG02451.hp1 HG02735.hp1 others(5): Show HG02135.hp2 HG02451.hp1 HG02735.hp1 NA18944.hp1 NA18946.hp1 NA18973.hp1 NA19009.hp2 NA19030.hp1	a0004 a0005 a0004 a0005	a0004c0006 a0005c0016 a0004c0006 a0005c0016	a0004c0006t0002 a0004c0006t0003 a0005c0016t0001 a0004c0006t0002 a0004c0006t0003 a0005c0016t0001	a0004c0006t0002g0040 a0004c0006t0002g0097 a0004c0006t0002g0162 others(5): Show a0004c0006t0002g0040 a0004c0006t0002g0097 a0004c0006t0002g0162 a0004c0006t0002g0169 a0004c0006t0002g0172 a0004c0006t0003g0066 a0005c0016t0001g0025 a0005c0016t0001g0127	8	113	0.0708	12	c.615 others(19): Show c.615_626dupGCAGCAGCAGCA	p.Gln others(13): Show p.Gln205_Gln208dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1518/10557	626/2448	209/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327684	A A	ATGCTGCT others(8): Show ATGCTGCTGCTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01978.hp1 HG03492.hp1 NA18993.hp1 others(1): Show HG01978.hp1 HG03492.hp1 NA18993.hp1 NA19240.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0011 a0003c0013 a0004c0006 others(1): Show a0002c0011 a0003c0013 a0004c0006 a0004c0027	a0002c0011t0007 a0003c0013t0001 a0004c0006t0002 others(1): Show a0002c0011t0007 a0003c0013t0001 a0004c0006t0002 a0004c0027t0001	a0002c0011t0007g0019 a0003c0013t0001g0117 a0004c0006t0002g0124 others(1): Show a0002c0011t0007g0019 a0003c0013t0001g0117 a0004c0006t0002g0124 a0004c0027t0001g0064	4	109	0.0367	15	c.612 others(22): Show c.612_626dupGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln204_Gln208dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1518/10557	626/2448	209/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327684	A A	ATGCTGCT others(11): Show ATGCTGCTGCTGCTGCTGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp1 HG03139.hp2 HG02055.hp1 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0012 a0001c0008t0001 a0001c0008t0012	a0001c0008t0001g0009 a0001c0008t0012g0148 a0001c0008t0001g0009 a0001c0008t0012g0148	2	107	0.0187	18	c.609 others(25): Show c.609_626dupGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln203_Gln208dup	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1518/10557	626/2448	209/815		chr6	TogoVar
ATXN2_chr12_111447214_111604315	111598951	C C	CTGCTGCT others(17): Show CTGCTGCTGCTGCTGCTGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0132 a0003c0005t0001g0132	1	296	0.0034	24	c.83_ others(29): Show c.83_84insACAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln21_Gln28dup	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	364/4347	83/3468	28/1155		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598963	C C	CTGCTGCT others(5): Show CTGCTGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0120 a0005c0021t0001g0120	1	296	0.0034	12	c.71_ others(17): Show c.71_72insACAGCAGCAGCA	p.Gln others(11): Show p.Gln21_Gln24dup	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	352/4347	71/3468	24/1155		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598993	C C	CTGT CTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp2 HG01169.hp2 HG02055.hp2 others(11): Show HG01168.hp2 HG01169.hp2 HG02055.hp2 HG02109.hp2 HG02280.hp2 HG02572.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp2	a0003 a0006 a0003 a0006	a0003c0006 a0006c0009 a0003c0006 a0006c0009	a0003c0006t0003 a0006c0009t0003 a0003c0006t0003 a0006c0009t0003	a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0109 others(11): Show a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0109 a0003c0006t0003g0110 a0003c0006t0003g0111 a0003c0006t0003g0112 a0003c0006t0003g0113 a0003c0006t0003g0114 a0003c0006t0003g0115 a0003c0006t0003g0116 a0003c0006t0003g0117 a0003c0006t0003g0118 a0006c0009t0003g0105 a0006c0009t0003g0106	14	110	0.1273	3	c.41_ others(8): Show c.41_42insACA	p.Gln others(5): Show p.Gln14dup	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	322/4347	41/3468	14/1155		chr12	TogoVar
ATXN3_chr14_92053552_92111582	92071020	C C	CTGCTGCT others(14): Show CTGCTGCTGCTGCTGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG02055.hp1 HG02723.hp2 others(1): Show HG01109.hp1 HG02055.hp1 HG02723.hp2 HG03471.hp1	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0026 a0016c0025t0027 a0016c0025t0026 a0016c0025t0027	a0016c0025t0026g0111 a0016c0025t0026g0114 a0016c0025t0027g0112 others(1): Show a0016c0025t0026g0111 a0016c0025t0026g0114 a0016c0025t0027g0112 a0016c0025t0027g0113	4	396	0.0101	21	c.905 others(28): Show c.905_906insACAGCAGCAGCAGCAGCAGCA	p.Gln others(34): Show p.Gln302_Gln303insGlnGlnGlnGlnGlnGlnGln	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	935/6884	905/1086	302/361		chr14	TogoVar
ATXN3_chr14_92053552_92111582	92071020	C C	CTGCTGCT others(8): Show CTGCTGCTGCTGCTGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02257.hp2 HG02559.hp1 HG02896.hp1 others(1): Show HG02257.hp2 HG02559.hp1 HG02896.hp1 HG02897.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0017 a0003c0026t0017	a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 others(1): Show a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 a0003c0026t0017g0379	4	396	0.0101	15	c.891 others(22): Show c.891_905dupACAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln298_Gln302dup	ATXN3	ENSG00000066427.25	transcript	ENST00000644486.2	protein_coding	10/11	935/6884	905/1086	302/361		chr14	TogoVar
ATXN7_chr3_63858867_64008462	63912684	G G	GGCA GGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00735.hp1 HG00738.hp2 HG01934.hp2 others(25): Show HG00735.hp1 HG00738.hp2 HG01934.hp2 HG02056.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03516.hp2 NA18522.hp1 NA18984.hp2 NA19043.hp1 NA19065.hp1 NA19068.hp2 NA19240.hp2 NA20129.hp2	a0004 a0004	a0004c0006 a0004c0010 a0004c0012 others(4): Show a0004c0006 a0004c0010 a0004c0012 a0004c0013 a0004c0027 a0004c0028 a0004c0029	a0004c0006t0004 a0004c0006t0042 a0004c0010t0001 others(6): Show a0004c0006t0004 a0004c0006t0042 a0004c0010t0001 a0004c0012t0005 a0004c0012t0006 a0004c0013t0004 a0004c0027t0004 a0004c0028t0005 a0004c0029t0002	a0004c0006t0004g0003 a0004c0006t0004g0028 a0004c0006t0004g0131 others(24): Show a0004c0006t0004g0003 a0004c0006t0004g0028 a0004c0006t0004g0131 a0004c0006t0004g0132 a0004c0006t0004g0139 a0004c0006t0004g0140 a0004c0006t0004g0141 a0004c0006t0004g0142 a0004c0006t0004g0144 a0004c0006t0004g0145 a0004c0006t0004g0146 a0004c0006t0004g0150 a0004c0006t0004g0219 a0004c0006t0042g0071 a0004c0010t0001g0112 a0004c0010t0001g0113 a0004c0010t0001g0114 a0004c0010t0001g0116 a0004c0012t0005g0012 a0004c0012t0005g0121 a0004c0012t0006g0249 a0004c0013t0004g0081 a0004c0013t0004g0137 a0004c0013t0004g0138 a0004c0027t0004g0133 a0004c0028t0005g0143 a0004c0029t0002g0277	28	234	0.1197	3	c.116 others(10): Show c.116_118dupAGC	p.Gln others(5): Show p.Gln39dup	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912684	G G	GGCAGCA GGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp1 HG00597.hp1 HG00733.hp2 others(41): Show HG00544.hp1 HG00597.hp1 HG00733.hp2 HG01106.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01517.hp1 HG01993.hp2 HG02004.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp2 HG02738.hp2 HG03453.hp2 HG03669.hp2 HG03710.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp1 NA18953.hp2 NA18961.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA19002.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19081.hp2 NA19082.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20905.hp1	a0003 a0003	a0003c0004 a0003c0005 a0003c0024 others(2): Show a0003c0004 a0003c0005 a0003c0024 a0003c0025 a0003c0026	a0003c0004t0003 a0003c0004t0016 a0003c0004t0024 others(6): Show a0003c0004t0003 a0003c0004t0016 a0003c0004t0024 a0003c0004t0025 a0003c0004t0026 a0003c0005t0003 a0003c0024t0004 a0003c0025t0002 a0003c0026t0003	a0003c0004t0003g0160 a0003c0004t0003g0167 a0003c0004t0003g0168 others(41): Show a0003c0004t0003g0160 a0003c0004t0003g0167 a0003c0004t0003g0168 a0003c0004t0003g0169 a0003c0004t0003g0170 a0003c0004t0003g0171 a0003c0004t0003g0173 a0003c0004t0003g0175 a0003c0004t0003g0178 a0003c0004t0003g0190 a0003c0004t0003g0192 a0003c0004t0003g0193 a0003c0004t0003g0194 a0003c0004t0003g0195 a0003c0004t0003g0196 a0003c0004t0003g0198 a0003c0004t0003g0203 a0003c0004t0003g0204 a0003c0004t0003g0205 a0003c0004t0003g0206 a0003c0004t0016g0158 a0003c0004t0016g0185 a0003c0004t0024g0197 a0003c0004t0025g0201 a0003c0004t0026g0172 a0003c0005t0003g0159 a0003c0005t0003g0162 a0003c0005t0003g0163 a0003c0005t0003g0174 a0003c0005t0003g0176 a0003c0005t0003g0177 a0003c0005t0003g0180 a0003c0005t0003g0181 a0003c0005t0003g0182 a0003c0005t0003g0183 a0003c0005t0003g0184 a0003c0005t0003g0187 a0003c0005t0003g0188 a0003c0005t0003g0189 a0003c0005t0003g0191 a0003c0005t0003g0200 a0003c0024t0004g0295 a0003c0025t0002g0257 a0003c0026t0003g0161	44	250	0.1760	6	c.113 others(13): Show c.113_118dupAGCAGC	p.Gln others(11): Show p.Gln38_Gln39dup	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912684	G G	GGCAGCAG others(2): Show GGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00735.hp2 HG01257.hp1 NA18970.hp1 HG00735.hp2 HG01257.hp1 NA18970.hp1	a0009 a0009	a0009c0016 a0009c0023 a0009c0016 a0009c0023	a0009c0016t0003 a0009c0016t0027 a0009c0023t0003 a0009c0016t0003 a0009c0016t0027 a0009c0023t0003	a0009c0016t0003g0202 a0009c0016t0027g0199 a0009c0023t0003g0179 a0009c0016t0003g0202 a0009c0016t0027g0199 a0009c0023t0003g0179	3	209	0.0144	9	c.110 others(16): Show c.110_118dupAGCAGCAGC	p.Gln others(11): Show p.Gln37_Gln39dup	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912684	G G	GGCAGCAG others(5): Show GGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18960.hp1 NA18960.hp1	a0021 a0021	a0021c0021 a0021c0021	a0021c0021t0003 a0021c0021t0003	a0021c0021t0003g0186 a0021c0021t0003g0186	1	207	0.0048	12	c.107 others(19): Show c.107_118dupAGCAGCAGCAGC	p.Gln others(11): Show p.Gln36_Gln39dup	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912684	G G	GGCAGCAG others(8): Show GGCAGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18946.hp1 NA18946.hp1	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0003 a0019c0019t0003	a0019c0019t0003g0166 a0019c0019t0003g0166	1	207	0.0048	15	c.104 others(22): Show c.104_118dupAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln35_Gln39dup	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912697	G G	GCCC GCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp1 HG02809.hp1 HG02965.hp1 others(4): Show HG02055.hp1 HG02809.hp1 HG02965.hp1 HG02976.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1	a0007 a0013 a0007 a0013	a0007c0009 a0013c0018 a0007c0009 a0013c0018	a0007c0009t0010 a0007c0009t0011 a0007c0009t0045 others(2): Show a0007c0009t0010 a0007c0009t0011 a0007c0009t0045 a0013c0018t0010 a0013c0018t0034	a0007c0009t0010g0151 a0007c0009t0011g0154 a0007c0009t0011g0156 others(4): Show a0007c0009t0010g0151 a0007c0009t0011g0154 a0007c0009t0011g0156 a0007c0009t0011g0157 a0007c0009t0045g0155 a0013c0018t0010g0153 a0013c0018t0034g0152	7	298	0.0235	3	c.100 others(10): Show c.100_101insCCC	p.Gln others(14): Show p.Gln33_Gln34insPro	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	503/7076	101/2679	34/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912714	A A	AGCAGCAG others(8): Show AGCAGCAGCAGCAGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19030.hp2 NA19030.hp2	a0022 a0022	a0022c0020 a0022c0020	a0022c0020t0021 a0022c0020t0021	a0022c0020t0021g0009 a0022c0020t0021g0009	1	288	0.0035	15	c.118 others(22): Show c.118_119insAGCAGCAGCAGCCGC	p.Gln others(26): Show p.Gln39_Pro40insGlnGlnGlnGlnPro	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912714	A A	AGCAGCAG others(5): Show AGCAGCAGCAGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18954.hp1 NA18954.hp1	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0003 a0020c0022t0003	a0020c0022t0003g0165 a0020c0022t0003g0165	1	288	0.0035	12	c.118 others(19): Show c.118_119insAGCAGCAGCCGC	p.Gln others(23): Show p.Gln39_Pro40insGlnGlnGlnPro	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	521/7076	119/2679	40/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912714	A A	AGCCGCAG others(2): Show AGCCGCAGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02717.hp1 HG03209.hp2 HG03540.hp1 HG02717.hp1 HG03209.hp2 HG03540.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0018 a0010c0014t0032 a0010c0014t0018 a0010c0014t0032	a0010c0014t0018g0007 a0010c0014t0018g0008 a0010c0014t0032g0010 a0010c0014t0018g0007 a0010c0014t0018g0008 a0010c0014t0032g0010	3	290	0.0103	9	c.121 others(16): Show c.121_122insAGCCGCCGC	p.Pro others(20): Show p.Pro40_Pro41insGlnProPro	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	524/7076	122/2679	41/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
AVEN_chr15_33861227_34044204	34038912	C C	CCCGCCGC others(5): Show CCCGCCGCCGCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp2 HG02572.hp2 HG02622.hp2 others(5): Show HG02258.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03540.hp1	a0004 a0004	a0004c0004 a0004c0005 a0004c0008 a0004c0004 a0004c0005 a0004c0008	a0004c0004t0001 a0004c0005t0007 a0004c0008t0001 a0004c0004t0001 a0004c0005t0007 a0004c0008t0001	a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0004t0001g0018 others(5): Show a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0004t0001g0018 a0004c0004t0001g0019 a0004c0005t0007g0263 a0004c0005t0007g0264 a0004c0005t0007g0265 a0004c0008t0001g0017	8	249	0.0321	12	c.123 others(19): Show c.123_134dupAGGCGGCGGCGG	p.Gly others(11): Show p.Gly42_Gly45dup	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	1/6	292/1633	134/1089	45/362		chr15	TogoVar
B4GALNT4_chr11_364499_387117	372613	T T	TCCTCCCT others(101): Show TCCTCCCTGCCCTTCCAACCCTGACCCTGTTGCCTTTTCTCTCCTGCAGC CCGAAGGTCGGGACCTAGACATGCTGTTTCCTGGGGGCGCTGGGAGGCTG CCACTGAAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0144 a0002c0008t0001g0144	1	182	0.0055	108	c.293 others(115): Show c.293_294insCGCTGGGAGGCTGCCACTGAACCCTCCCTGCCCTTCCA ACCCTGACCCTGTTGCCTTTTCTCTCCTGCAGCCCGAAGGTCGGGACCTA GACATGCTGTTTCCTGGGGG	p.Gly others(119): Show p.Gly98_Ala99insAlaGlyArgLeuProLeuAsnProProCysProS erAsnProAspProValAlaPheSerLeuLeuGlnProGluGlyArgAsp LeuAspMetLeuPheProGlyGly	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	3/20	599/3750	294/3120	98/1039	INFO_REALIGN_3_PRIME	chr11	TogoVar
BAHCC1_chr17_81390457_81471331	81399839	G G	GGGCCCGC others(5): Show GGGCCCGCCGCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA21309.hp2 NA21309.hp2	a0056 a0056	a0056c0104 a0056c0104	a0056c0104t0010 a0056c0104t0010	a0056c0104t0010g0160 a0056c0104t0010g0160	1	330	0.0030	12	c.101 others(19): Show c.101_112dupGGCCCGCCGCGC	p.Ala others(23): Show p.Ala37_Gln38insArgProAlaAla	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/28	498/10726	113/7827	38/2608	INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24849875	T T	TGAAAAAT others(3392): Show TGAAAAATAAGGTCCCGGTTGCAGTGAGCCGAGATTGCACCACTGCACTC CACCCAGACAACAGAGCAAGACTCCGTCTCAAAAAATAAAATAAAATAAA AGGAAAAGAAAAAAGAAATTTCAGGCAGAGGAGGTCGCGGCGCCGGAGGC CCCAGAAGGGTCGAAGGCGCCGCGGGCTGGGGTCGGTGGCTTAGGGAGCC CGTCTGGCCATGGTGGCCGCGGCTGGTGGTTGGCGCGGCGGCGCTGACGC CCGCGGGCCCCAGCTGCAGATATGAAGCGGAGCCGCTGCCGCGACCGACC GCAGCCGCCGCCGCCCGACCGCCAGGAGGATGGAGTTCAGCGGGCAGCGG AGCTGTCTCAGTCTTTGCCGCCGCGCCGGCGAGCGCCGCCCGGGAGGCAG CGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAGCAGCC GCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCTGC CACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTG GGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGC GTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCC AGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCAT CGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGATGTG AGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCT CTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACC ACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTG AGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGG AGCGTCTCCGCCCGGCAGCCACCCCGTCCAGGAGGGAGGTGGGGGGGGGG GGTCAGCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGTC AGCCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACC CCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCC CCGTCCGGTAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCTGTCGGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTGGG GGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCC AGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGGGGGGTCGGCCCCCCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCTCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCC CGTCCGGCCAGCCGCCCCGTCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGATGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTG TGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTG GAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTG CCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCT GCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTA CCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAA ATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGG CAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGG GACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGA GACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCA TGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAA AAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	NA18959.hp1 NA18959.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0076 a0004c0008t0002g0076	1	320	0.0031	3399	c.584 others(3406): Show c.584_585insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT AAATTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGAT TTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAG TGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGC AGTGTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTA ACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCG CCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCA CAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAAT TTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCT ACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCC GCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATG AGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCATCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGACGGGGCG GCTGGCCGGACGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGAGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGG GGGCTGACCCCCCCCAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GGCGGAGGGCTGACCCCCCCACCTCCCTCCCCGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTC CCTACCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTC CCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCG GGCGGGGGGGCTGACCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGCTGACCCCCCCCCCCCACCTCCCTCCTGGACGGGGTGGCTGCCG GGCGGAGACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGG CTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCACTT CTCAGACGGGGTGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGG GCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCCGGGC AGAGGCGCTCCTCACATCCCAGATGGGGCGGCGGGGCAGAGGCGCTCCCC ACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGAT GTGATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGGGATGGCGG CCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGG CTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTC CCAGACGGGGTGGCAGCCGGGCAGAGGCTGCAATCTCGGCACTTTGGGAG GCCAAGGCAGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCG CTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAG ACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCTGGCGGTCGGGC GGCGGCGGCTGCGGTCGGTCGCGGCAGCGGCTCCGCTTCATATCTGCAGC TGGGGCCCGCGGGCGTCAGCGCCGCCGCGCCAACCACCAGCCGCGGCCAC CATGGCCAGACGGGCTCCCTAAGCCACCGACCCCAGCCCGCGGCGCCTTC GACCCTTCTGGGGCCTCCGGCGCCGCGACCTCCTCTGCCTGAAATTTCTT TTTTCTTTTCCTTTTATTTTATTTTATTTTTTGAGACGGAGTCTTGCTCT GTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCGGGA CCTTATTTTTC	p.Ser others(3412): Show p.Ser195_Ser196insPhePhePhePhePhePhePhePhePhePhePh ePheTerIleTyrPhePheIleAspAsnSerTrpValPheLeuThrGluG lyAspLeuAlaGlySerTrpAspAsnSerGlyGlyLysValSerArgTer ThrSerGluGlnArgSerLeuValPheLeuGlyArgGlyProCysGlyLe uProGlnCysLeuCysProTerLeuLeuGluIleArgAspTrpTerTerL euLeuThrSerMetLeuProSerSerIleCysLeuThrLysHisIleLeu HisArgProTerSerIleTerProTerValAspThrAlaHisValSerGl uSerThrGlyLeuGlyValArgSerGlnIleAsnArgIleProArgGlnA rgAsnPheSerTerCysArgThrLysTerLysValSerHisValTyrPhe PheLeuHisArgHisGlyAsnHisProIleSerGlnSerPheProHisLe uSerArgLeuSerIleProGlnSerArgHisCysHisProGlyProPheS erMetSerCysTrpAlaHisLeuProAspGlyValValAlaGlyGlnArg GlySerSerLeuProSerArgGlyGlyArgAlaGluAlaProLeuIleSe rArgThrGlyArgLeuAlaGlyGlnGlyGlyTerProProHisLeuProP roGlyArgGlyGlyTrpProGlyGlyGlyLeuThrProGlnProProSer ArgThrGlyArgLeuAlaGlyArgGlyAlaAspProProThrSerLeuPr oAspGlyAlaAlaGlyArgAlaGluGlyLeuLeuThrSerGlnTerGlyA rgProGlyArgGlyAlaProHisLeuProAspGlyAlaAlaGlyArgThr GlyArgLeuAlaGlyArgGlyAlaAspProProThrSerLeuProAspGl yAlaAlaGlyArgAlaGlyGlyArgProProHisLeuProProGlyArgG lyGlyTrpProGlyGlyGlyProThrProProProProSerArgThrGly ArgLeuAlaGlyGlnArgGlySerSerLeuProSerArgGlyGlyArgAl aGluAlaProLeuThrSerArgThrGlyArgLeuAlaGlyArgGlyGlyT erProProProThrSerLeuProAspGlyAlaAlaGlyArgAlaGlyGly TerProProHisLeuProProGlyArgGlyGlyTrpProGlyArgGlyAl aProHisPheProValGlyAlaAlaGluGlnArgArgProSerProProG lyArgGlyGlyTrpProGlyArgGlyAlaAspProProProProProPro SerArgThrGlyArgLeuAlaGlyArgGlyAlaAspProProThrSerLe uProAspGlyAlaAlaGlyArgAlaGlyGlyArgProProHisLeuProP roGlyGlnGlyGlyTrpProGlyArgGlyAlaProHisPheProValGly AlaAlaGlyGlnArgArgProSerProProGlyGlnGlyGlyTrpLeuGl yGlyGlyAlaAspProProGlnProProSerGlnThrGlyArgLeuAlaG lyArgGlyAlaAspProProThrSerLeuProAspGlyAlaAlaGlyArg AlaGluGlyLeuLeuThrSerGlnTerGlyArgProGlyArgGlyAlaPr oHisLeuProAspGlyAlaAlaGlyArgAlaGlyGlyProThrProProP roProSerArgThrGlyArgLeuAlaGlyGlnArgGlySerSerLeuPro SerArgGlyGlyArgAlaGluAlaProLeuThrSerGlnThrGlyArgLe uAlaGlyArgArgAlaAspProProThrSerLeuProAspArgAlaAlaG lyArgAlaGlyGlyTerProProHisLeuProProGlyArgGlyGlyTrp ProGlyArgGlyAlaProHisPheProValGlyAlaAlaGlyGlnArgAr gProSerProProArgArgGlyGlyTrpProGlyGlyGlyLeuThrProP roProProSerArgThrGlyArgLeuAlaArgArgGlyAlaAspProPro ThrSerLeuProAspGlyAlaAlaGlyArgValGlyGlyLeuThrProPr oSerProSerArgThrGlyTrpLeuAlaGlyLeuArgGlySerSerLeuP roSerArgGlyGlyArgAlaGluAlaProLeuThrSerArgThrGlyArg LeuAlaGlyArgGlyAlaAspProProThrSerLeuProAspGlyThrAl aGlyGlnAlaGlyGlyTerProProHisLeuProProGlyTrpHisGlyT rpProGlyGlyGlyAlaAspProHisLeuProProGlyTrpGlyGlyTrp ProGlyGlyGlyTerProProProProThrSerLeuLeuAspGlyValAl aAlaGlyArgArgArgSerSerLeuProArgTrpGlyGlyCysArgAlaG luArgLeuLeuThrSerGlnThrGlyGlnLeuProGlyGlyGlyAlaPro HisPheSerAspGlyValValAlaArgGlnArgValSerSerLeuLeuAr gArgGlyGlyArgAlaGluThrLeuLeuThrSerGlnThrGlySerArgP roGlyArgGlyAlaProHisIleProAspGlyAlaAlaGlyGlnArgArg SerProHisLeuArgArgTrpAlaAlaGlyGlnArgArgSerSerLeuPr oArgCysAspGlyGlyTrpGluGluAlaLeuLeuThrSerTerMetGlyT rpArgProGlyGlyAspAlaProHisPheProAspTrpAlaAlaArgGln ArgGlySerSerHisProArgArgTrpAlaAlaArgGlnArgHisSerSe rLeuProArgArgGlyGlySerArgAlaGluAlaAlaIleSerAlaLeuT rpGluAlaLysAlaGlyGlyCysSerLeuProSerGlyProAlaGlyPro ValArgSerSerSerArgCysLeuProGlyGlyAlaArgArgArgGlyGl yLysAspTerAspSerSerAlaAlaArgTerThrProSerSerTrpArgS erGlyGlyGlyGlyCysGlyArgSerArgGlnArgLeuArgPheIleSer AlaAlaGlyAlaArgGlyArgGlnArgArgArgAlaAsnHisGlnProAr gProProTrpProAspGlyLeuProLysProProThrProAlaArgGlyA laPheAspProSerGlyAlaSerGlyAlaAlaThrSerSerAlaTerAsn PhePhePheLeuPheLeuLeuPheTyrPheIlePheTerAspGlyValLe uLeuCysCysLeuGlyGlyValGlnTrpCysAsnLeuGlySerLeuGlnP roGlyProTyrPheSer	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	6/11	753/9314	584/1161	195/386		chr12	TogoVar
BCL6B_chr17_7018050_7034644	7024700	C C	CCAG CCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 others(4): Show a0001c0001 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0007t0001 a0001c0008t0001 a0001c0010t0003 a0001c0011t0004 a0001c0012t0001 a0001c0016t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0023 a0001c0001t0007g0010 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0014g0001 a0001c0001t0016g0001 a0001c0007t0001g0001 a0001c0008t0001g0001 a0001c0010t0003g0002 a0001c0011t0004g0007 a0001c0012t0001g0001 a0001c0016t0005g0001	223	345	0.6464	3	c.729 others(10): Show c.729_731dupCAG	p.Ser others(6): Show p.Ser244dup	BCL6B	ENSG00000161940.11	transcript	ENST00000293805.10	protein_coding	4/9	794/3527	732/1440	244/479	INFO_REALIGN_3_PRIME	chr17	TogoVar
BCL6B_chr17_7018050_7034644	7024700	C C	CCAGCAG CCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01257.hp2 HG02895.hp2 HG02897.hp2 others(3): Show HG01257.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03491.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0003 a0003c0005t0001 a0003c0005t0003	a0003c0005t0001g0001 a0003c0005t0003g0001 a0003c0005t0001g0001 a0003c0005t0003g0001	6	128	0.0469	6	c.726 others(13): Show c.726_731dupCAGCAG	p.Ser others(13): Show p.Ser243_Ser244dup	BCL6B	ENSG00000161940.11	transcript	ENST00000293805.10	protein_coding	4/9	794/3527	732/1440	244/479	INFO_REALIGN_3_PRIME	chr17	TogoVar
BCL6B_chr17_7018050_7034644	7024700	C C	CCAGCAGC others(2): Show CCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp1 HG02965.hp1 HG03195.hp2 HG01884.hp1 HG02965.hp1 HG03195.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0002 a0004c0006t0001g0002	3	125	0.0240	9	c.723 others(16): Show c.723_731dupCAGCAGCAG	p.Ser others(13): Show p.Ser242_Ser244dup	BCL6B	ENSG00000161940.11	transcript	ENST00000293805.10	protein_coding	4/9	794/3527	732/1440	244/479	INFO_REALIGN_3_PRIME	chr17	TogoVar
BHLHE22_chr8_64575365_64588627	64581060	T T	TGGC TGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp1 HG01175.hp1 HG01884.hp2 others(23): Show HG01167.hp1 HG01175.hp1 HG01884.hp2 HG01934.hp2 HG02109.hp1 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG04115.hp1 HG06807.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20805.hp2	a0004 a0005 a0007 others(1): Show a0004 a0005 a0007 a0014	a0004c0004 a0005c0005 a0007c0007 others(1): Show a0004c0004 a0005c0005 a0007c0007 a0014c0013	a0004c0004t0003 a0004c0004t0016 a0005c0005t0004 others(2): Show a0004c0004t0003 a0004c0004t0016 a0005c0005t0004 a0007c0007t0004 a0014c0013t0003	a0004c0004t0003g0000 a0004c0004t0016g0000 a0005c0005t0004g0000 others(2): Show a0004c0004t0003g0000 a0004c0004t0016g0000 a0005c0005t0004g0000 a0007c0007t0004g0000 a0014c0013t0003g0000	26	429	0.0606	3	c.288 others(10): Show c.288_290dupCGG	p.Gly others(5): Show p.Gly97dup	BHLHE22	ENSG00000180828.3	transcript	ENST00000321870.3	protein_coding	1/1	717/3263	291/1146	97/381	INFO_REALIGN_3_PRIME	chr8	TogoVar
BHLHE22_chr8_64575365_64588627	64581463	G G	GGCA GGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp1 HG00597.hp2 HG00621.hp1 others(31): Show HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01069.hp1 HG01106.hp1 HG01346.hp2 HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG04228.hp1 NA19002.hp2 NA19030.hp1 NA20300.hp2	a0003 a0010 a0014 a0003 a0010 a0014	a0003c0003 a0003c0008 a0003c0015 others(2): Show a0003c0003 a0003c0008 a0003c0015 a0010c0022 a0014c0013	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0006 a0003c0008t0002 a0003c0008t0010 a0003c0015t0001 a0010c0022t0001 a0014c0013t0003	a0003c0003t0001g0000 a0003c0003t0002g0000 a0003c0003t0003g0000 others(6): Show a0003c0003t0001g0000 a0003c0003t0002g0000 a0003c0003t0003g0000 a0003c0003t0006g0000 a0003c0008t0002g0000 a0003c0008t0010g0000 a0003c0015t0001g0000 a0010c0022t0001g0000 a0014c0013t0003g0000	34	421	0.0808	3	c.701 others(10): Show c.701_703dupGCA	p.Ser others(6): Show p.Ser234dup	BHLHE22	ENSG00000180828.3	transcript	ENST00000321870.3	protein_coding	1/1	1130/3263	704/1146	235/381	INFO_REALIGN_3_PRIME	chr8	TogoVar
BHLHE22_chr8_64575365_64588627	64581463	G G	GGCAGCA GGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp1 HG02630.hp2 HG02647.hp1 others(1): Show HG01243.hp1 HG02630.hp2 HG02647.hp1 NA19079.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0002 a0008c0009t0001 a0008c0009t0002	a0008c0009t0001g0000 a0008c0009t0002g0000 a0008c0009t0001g0000 a0008c0009t0002g0000	4	391	0.0102	6	c.698 others(13): Show c.698_703dupGCAGCA	p.Ser others(13): Show p.Ser233_Ser234dup	BHLHE22	ENSG00000180828.3	transcript	ENST00000321870.3	protein_coding	1/1	1130/3263	704/1146	235/381	INFO_REALIGN_3_PRIME	chr8	TogoVar
BHLHE22_chr8_64575365_64588627	64581463	G G	GGCAGCAG others(5): Show GGCAGCAGCAGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02818.hp1 HG02818.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0012 a0015c0016t0012	a0015c0016t0012g0000 a0015c0016t0012g0000	1	388	0.0026	12	c.692 others(19): Show c.692_703dupGCAGCAGCAGCA	p.Ser others(13): Show p.Ser231_Ser234dup	BHLHE22	ENSG00000180828.3	transcript	ENST00000321870.3	protein_coding	1/1	1130/3263	704/1146	235/381	INFO_REALIGN_3_PRIME	chr8	TogoVar
BICRA_chr19_47604134_47708277	47682061	A A	AAGACCCA others(5): Show AAGACCCAGCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02698.hp1 HG02698.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0239 a0008c0020t0001g0239	1	310	0.0032	12	c.219 others(21): Show c.2195_2206dupACCCAGCCCCAG	p.Asp others(13): Show p.Asp732_Pro735dup	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/15	2349/5687	2207/4683	736/1560	INFO_REALIGN_3_PRIME	chr19	TogoVar
BMP15_chrX_50905735_50921641	50916210	C C	CTCT CTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp2 HG00735.hp1 HG01081.hp2 others(57): Show HG00544.hp2 HG00735.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01891.hp1 HG01934.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 HG04115.hp1 NA18522.hp1 NA18906.hp2 NA18948.hp1 NA18984.hp1 NA18993.hp1 NA18994.hp1 NA19043.hp1 NA19056.hp1 NA19081.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0002c0007 a0003c0003 others(1): Show a0002c0002 a0002c0007 a0003c0003 a0006c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0007t0001 a0003c0003t0001 a0003c0003t0003 a0006c0006t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(15): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0024 a0002c0002t0003g0003 a0002c0002t0004g0012 a0002c0007t0001g0007 a0002c0007t0001g0029 a0003c0003t0001g0003 a0003c0003t0003g0003 a0006c0006t0001g0007	60	292	0.2055	3	c.786 others(10): Show c.786_788dupTCT	p.Leu others(6): Show p.Leu263dup	BMP15	ENSG00000130385.6	transcript	ENST00000252677.4	protein_coding	2/2	838/1262	789/1179	263/392	INFO_REALIGN_3_PRIME	chrX	TogoVar
BMP2K_chr4_78771350_78921365	78870928	C C	CCAG CCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02145.hp1 HG02280.hp2 HG02622.hp2 others(11): Show HG02145.hp1 HG02280.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02965.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG06807.hp1 NA19057.hp1 NA21309.hp2	a0005 a0015 a0005 a0015	a0005c0004 a0015c0020 a0005c0004 a0015c0020	a0005c0004t0001 a0005c0004t0005 a0005c0004t0006 others(3): Show a0005c0004t0001 a0005c0004t0005 a0005c0004t0006 a0005c0004t0013 a0005c0004t0016 a0015c0020t0002	a0005c0004t0001g0099 a0005c0004t0005g0026 a0005c0004t0005g0028 others(11): Show a0005c0004t0001g0099 a0005c0004t0005g0026 a0005c0004t0005g0028 a0005c0004t0005g0029 a0005c0004t0005g0030 a0005c0004t0005g0035 a0005c0004t0005g0039 a0005c0004t0005g0040 a0005c0004t0006g0033 a0005c0004t0013g0107 a0005c0004t0013g0108 a0005c0004t0016g0027 a0005c0004t0016g0031 a0015c0020t0002g0180	14	187	0.0749	3	c.140 others(12): Show c.1401_1403dupGCA	p.Gln others(6): Show p.Gln468dup	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	11/16	1598/8012	1404/3486	468/1161	INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78870982	A A	ACAG ACAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03453.hp2 HG03579.hp1 NA18906.hp1 others(1): Show HG03453.hp2 HG03579.hp1 NA18906.hp1 NA19030.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0055 a0007c0008t0001g0072 a0007c0008t0001g0098 others(1): Show a0007c0008t0001g0055 a0007c0008t0001g0072 a0007c0008t0001g0098 a0007c0008t0001g0124	4	198	0.0202	3	c.145 others(12): Show c.1458_1460dupGCA	p.Gln others(6): Show p.Gln486dup	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	11/16	1655/8012	1461/3486	487/1161	INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP6_chr6_7721099_7886728	7727289	G G	GAGC GAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(25): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG01981.hp2 HG02080.hp2 HG02109.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18980.hp1 NA18980.hp2 NA18990.hp2 NA19076.hp2 NA21309.hp1	a0003 a0003	a0003c0005 a0003c0006 a0003c0017 a0003c0005 a0003c0006 a0003c0017	a0003c0005t0004 a0003c0005t0006 a0003c0005t0008 others(4): Show a0003c0005t0004 a0003c0005t0006 a0003c0005t0008 a0003c0005t0034 a0003c0006t0006 a0003c0006t0007 a0003c0017t0006	a0003c0005t0004g0001 a0003c0005t0004g0009 a0003c0005t0004g0014 others(25): Show a0003c0005t0004g0001 a0003c0005t0004g0009 a0003c0005t0004g0014 a0003c0005t0004g0017 a0003c0005t0004g0018 a0003c0005t0004g0019 a0003c0005t0004g0020 a0003c0005t0004g0021 a0003c0005t0004g0022 a0003c0005t0004g0026 a0003c0005t0004g0027 a0003c0005t0004g0284 a0003c0005t0006g0001 a0003c0005t0006g0006 a0003c0005t0006g0007 a0003c0005t0006g0025 a0003c0005t0008g0010 a0003c0005t0008g0011 a0003c0005t0008g0012 a0003c0005t0008g0015 a0003c0005t0034g0013 a0003c0006t0006g0003 a0003c0006t0007g0004 a0003c0006t0007g0005 a0003c0006t0007g0008 a0003c0006t0007g0016 a0003c0006t0007g0023 a0003c0017t0006g0024	28	305	0.0918	3	c.353 others(10): Show c.353_355dupAGC	p.Gln others(6): Show p.Gln118dup	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/7	1213/3784	356/1542	119/513	INFO_REALIGN_3_PRIME	chr6	TogoVar
BRI3BP_chr12_124988645_125036231	124993835	C C	CCTG CCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(183): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0009 a0002c0002 a0002c0008 a0002c0009	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(50): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0025 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0036 a0002c0002t0038 a0002c0002t0039 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048 a0002c0002t0050 a0002c0002t0051 a0002c0002t0054 a0002c0002t0057 a0002c0002t0058 a0002c0002t0061 a0002c0002t0062 a0002c0002t0066 a0002c0002t0069 a0002c0002t0071 a0002c0002t0076 a0002c0002t0079 a0002c0002t0086 a0002c0002t0088 a0002c0002t0089 a0002c0002t0092 a0002c0002t0093 a0002c0002t0095 a0002c0008t0042 a0002c0009t0015	a0002c0002t0001g0009 a0002c0002t0001g0029 a0002c0002t0001g0042 others(181): Show a0002c0002t0001g0009 a0002c0002t0001g0029 a0002c0002t0001g0042 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0183 a0002c0002t0001g0195 a0002c0002t0001g0201 a0002c0002t0001g0203 a0002c0002t0001g0228 a0002c0002t0001g0238 a0002c0002t0001g0243 a0002c0002t0001g0255 a0002c0002t0001g0265 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0278 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0362 a0002c0002t0001g0365 a0002c0002t0001g0371 a0002c0002t0001g0375 a0002c0002t0001g0377 a0002c0002t0001g0380 a0002c0002t0001g0383 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0085 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0002g0219 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0273 a0002c0002t0002g0307 a0002c0002t0002g0313 a0002c0002t0002g0369 a0002c0002t0003g0166 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0182 a0002c0002t0003g0186 a0002c0002t0003g0188 a0002c0002t0003g0189 a0002c0002t0003g0192 a0002c0002t0003g0194 a0002c0002t0003g0197 a0002c0002t0003g0206 a0002c0002t0003g0207 a0002c0002t0003g0209 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0213 a0002c0002t0003g0229 a0002c0002t0003g0235 a0002c0002t0003g0239 a0002c0002t0003g0245 a0002c0002t0003g0249 a0002c0002t0003g0253 a0002c0002t0003g0260 a0002c0002t0004g0033 a0002c0002t0004g0157 a0002c0002t0004g0158 a0002c0002t0004g0159 a0002c0002t0004g0181 a0002c0002t0004g0236 a0002c0002t0004g0237 a0002c0002t0004g0244 a0002c0002t0004g0347 a0002c0002t0004g0387 a0002c0002t0005g0204 a0002c0002t0005g0230 a0002c0002t0005g0234 a0002c0002t0005g0269 a0002c0002t0005g0274 a0002c0002t0005g0315 a0002c0002t0005g0354 a0002c0002t0005g0374 a0002c0002t0006g0233 a0002c0002t0006g0316 a0002c0002t0006g0359 a0002c0002t0006g0386 a0002c0002t0007g0120 a0002c0002t0007g0208 a0002c0002t0007g0210 a0002c0002t0007g0222 a0002c0002t0007g0224 a0002c0002t0007g0227 a0002c0002t0007g0241 a0002c0002t0007g0247 a0002c0002t0007g0268 a0002c0002t0007g0333 a0002c0002t0008g0040 a0002c0002t0008g0050 a0002c0002t0008g0053 a0002c0002t0008g0054 a0002c0002t0008g0055 a0002c0002t0008g0056 a0002c0002t0009g0346 a0002c0002t0010g0262 a0002c0002t0010g0358 a0002c0002t0011g0202 a0002c0002t0011g0246 a0002c0002t0012g0257 a0002c0002t0013g0232 a0002c0002t0014g0366 a0002c0002t0014g0367 a0002c0002t0015g0363 a0002c0002t0015g0364 a0002c0002t0015g0385 a0002c0002t0017g0384 a0002c0002t0018g0216 a0002c0002t0018g0276 a0002c0002t0020g0348 a0002c0002t0020g0381 a0002c0002t0020g0382 a0002c0002t0021g0251 a0002c0002t0021g0264 a0002c0002t0022g0254 a0002c0002t0022g0258 a0002c0002t0023g0345 a0002c0002t0023g0368 a0002c0002t0023g0388 a0002c0002t0025g0225 a0002c0002t0025g0343 a0002c0002t0027g0361 a0002c0002t0027g0379 a0002c0002t0028g0271 a0002c0002t0028g0304 a0002c0002t0029g0252 a0002c0002t0029g0272 a0002c0002t0030g0198 a0002c0002t0030g0226 a0002c0002t0036g0008 a0002c0002t0038g0010 a0002c0002t0038g0011 a0002c0002t0039g0266 a0002c0002t0039g0344 a0002c0002t0045g0373 a0002c0002t0046g0372 a0002c0002t0047g0376 a0002c0002t0048g0353 a0002c0002t0050g0389 a0002c0002t0051g0041 a0002c0002t0054g0168 a0002c0002t0057g0073 a0002c0002t0058g0360 a0002c0002t0061g0205 a0002c0002t0062g0240 a0002c0002t0066g0256 a0002c0002t0069g0242 a0002c0002t0071g0370 a0002c0002t0076g0223 a0002c0002t0079g0334 a0002c0002t0086g0248 a0002c0002t0088g0305 a0002c0002t0089g0306 a0002c0002t0092g0357 a0002c0002t0093g0049 a0002c0002t0095g0317 a0002c0008t0042g0250 a0002c0009t0015g0378	186	391	0.4757	3	c.72_ others(8): Show c.72_74dupGCT	p.Leu others(5): Show p.Leu25dup	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/3	221/6703	75/756	25/251	INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	124993835	C C	CCTGCTG CCTGCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp2 HG00323.hp2 HG02040.hp2 others(12): Show HG00280.hp2 HG00323.hp2 HG02040.hp2 HG02698.hp2 HG04199.hp1 HG04228.hp1 NA18941.hp2 NA18945.hp2 NA18954.hp1 NA19004.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19065.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0006 others(5): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0006 a0003c0003t0010 a0003c0003t0011 a0003c0003t0017 a0003c0003t0018 a0003c0003t0060	a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 others(12): Show a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0196 a0003c0003t0001g0220 a0003c0003t0002g0221 a0003c0003t0006g0218 a0003c0003t0006g0277 a0003c0003t0010g0217 a0003c0003t0011g0076 a0003c0003t0011g0077 a0003c0003t0011g0165 a0003c0003t0017g0161 a0003c0003t0018g0267 a0003c0003t0060g0215	15	220	0.0682	6	c.69_ others(11): Show c.69_74dupGCTGCT	p.Leu others(11): Show p.Leu24_Leu25dup	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/3	221/6703	75/756	25/251	INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3BP_chr12_124988645_125036231	124993846	T T	TGCC TGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG02056.hp2 HG02165.hp2 others(3): Show HG00408.hp1 HG02056.hp2 HG02165.hp2 NA18975.hp2 NA18988.hp2 NA18995.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0003 a0004c0004t0012 a0004c0004t0002 a0004c0004t0003 a0004c0004t0012	a0004c0004t0002g0191 a0004c0004t0002g0193 a0004c0004t0002g0199 others(3): Show a0004c0004t0002g0191 a0004c0004t0002g0193 a0004c0004t0002g0199 a0004c0004t0002g0200 a0004c0004t0003g0336 a0004c0004t0012g0259	6	408	0.0147	3	c.58_ others(8): Show c.58_59insCGC	p.Leu others(14): Show p.Leu19_Leu20insPro	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/3	205/6703	59/756	20/251	INFO_REALIGN_3_PRIME	chr12	TogoVar
BTAF1_chr10_91918770_92036437	91994538	G G	GAAATCGA others(17): Show GAAATCGAAAGATGAAACAAAAACA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18978.hp2 NA18978.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0304 a0006c0011t0002g0304	1	328	0.0030	24	c.320 others(33): Show c.3206_3207insTCGAAAGATGAAACAAAAACAAAA	p.Gly others(39): Show p.Gly1068_Lys1069insAsnArgLysMetLysGlnLysGln	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	23/38	3514/8361	3207/5550	1069/1849	INFO_REALIGN_3_PRIME	chr10	TogoVar
C15orf61_chr15_67516131_67535146	67521495	G G	GGCTGCTT others(17): Show GGCTGCTTCCCCTTCATCAAGTACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	1	414	0.0024	24	c.248 others(31): Show c.248_271dupGCTGCTTCCCCTTCATCAAGTACC	p.Tyr others(35): Show p.Tyr90_His91insArgCysPheProPheIleLysTyr	C15orf61	ENSG00000189227.6	transcript	ENST00000342683.6	protein_coding	1/2	390/4193	272/474	91/157	INFO_REALIGN_3_PRIME	chr15	TogoVar
C21orf58_chr21_46296130_46328870	46302071	A A	ATGG ATGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG00323.hp2 HG00544.hp2 others(100): Show HG00140.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG03098.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 NA18522.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18962.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18979.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19072.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0012	a0002c0002 a0004c0004 a0007c0008 others(1): Show a0002c0002 a0004c0004 a0007c0008 a0012c0014	a0002c0002t0001 a0002c0002t0009 a0002c0002t0012 others(6): Show a0002c0002t0001 a0002c0002t0009 a0002c0002t0012 a0002c0002t0018 a0002c0002t0024 a0002c0002t0025 a0004c0004t0008 a0007c0008t0001 a0012c0014t0001	a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0019 others(88): Show a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0081 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0292 a0002c0002t0009g0077 a0002c0002t0009g0078 a0002c0002t0012g0072 a0002c0002t0018g0119 a0002c0002t0024g0100 a0002c0002t0025g0297 a0004c0004t0008g0299 a0004c0004t0008g0300 a0004c0004t0008g0301 a0007c0008t0001g0122 a0007c0008t0001g0168 a0012c0014t0001g0181	103	374	0.2754	3	c.894 others(10): Show c.894_896dupCCA	p.His others(6): Show p.His299dup	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	8/8	2028/2970	896/969	299/322		chr21	TogoVar
C2orf16_chr2_27532386_27587722	27581795	C C	CCATCACA others(17): Show CCATCACAGTCCCTCTGAGAGAAGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG06807.hp2 HG06807.hp2	a0040 a0040	a0040c0032 a0040c0032	a0040c0032t0001 a0040c0032t0001	a0040c0032t0001g0218 a0040c0032t0001g0218	1	322	0.0031	24	c.154 others(35): Show c.15459_15482dupACATCACAGTCCCTCTGAGAGAAG	p.Arg others(15): Show p.Arg5153_Arg5160dup	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	5/5	15524/16403	15483/16167	5161/5388	INFO_REALIGN_3_PRIME	chr2	TogoVar

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