Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ATN1_chr12_6922959_6947321	6936728	ACAG ACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01346.hp1 HG01361.hp1 HG02615.hp2 others(12): Show HG01346.hp1 HG01361.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02886.hp2 HG02976.hp2 HG03139.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp1 NA18906.hp1 NA20905.hp2	a0008 a0008	a0008c0012 a0008c0041 a0008c0012 a0008c0041	a0008c0012t0001 a0008c0041t0001 a0008c0012t0001 a0008c0041t0001	a0008c0012t0001g0003 a0008c0012t0001g0005 a0008c0012t0001g0029 others(8): Show a0008c0012t0001g0003 a0008c0012t0001g0005 a0008c0012t0001g0029 a0008c0012t0001g0030 a0008c0012t0001g0071 a0008c0012t0001g0079 a0008c0012t0001g0091 a0008c0012t0001g0097 a0008c0012t0001g0098 a0008c0012t0001g0102 a0008c0041t0001g0005	15	414	0.0362	-3	c.150 others(12): Show c.1506_1508delGCA	p.Gln others(6): Show p.Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2094/4702	1506/3573	502/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAG ACAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG01261.hp2 HG01884.hp2 others(26): Show HG00408.hp1 HG01261.hp2 HG01884.hp2 HG01952.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0042 a0003c0005 a0003c0042	a0003c0005t0001 a0003c0005t0011 a0003c0042t0001 a0003c0005t0001 a0003c0005t0011 a0003c0042t0001	a0003c0005t0001g0001 a0003c0005t0001g0002 a0003c0005t0001g0013 others(10): Show a0003c0005t0001g0001 a0003c0005t0001g0002 a0003c0005t0001g0013 a0003c0005t0001g0018 a0003c0005t0001g0028 a0003c0005t0001g0039 a0003c0005t0001g0044 a0003c0005t0001g0073 a0003c0005t0001g0081 a0003c0005t0001g0105 a0003c0005t0001g0107 a0003c0005t0011g0013 a0003c0042t0001g0005	29	414	0.0701	-6	c.150 others(15): Show c.1503_1508delGCAGCA	p.Gln others(13): Show p.Gln501_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2091/4702	1503/3573	501/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(2): Show ACAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp2 HG01167.hp1 HG01891.hp2 others(35): Show HG01069.hp2 HG01167.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG04228.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA19007.hp2 NA19030.hp1 NA19054.hp1 NA19240.hp2 NA20129.hp1	a0004 a0015 a0026 others(1): Show a0004 a0015 a0026 a0031	a0004c0003 a0015c0023 a0026c0043 others(1): Show a0004c0003 a0015c0023 a0026c0043 a0031c0053	a0004c0003t0001 a0004c0003t0002 a0004c0003t0012 others(3): Show a0004c0003t0001 a0004c0003t0002 a0004c0003t0012 a0015c0023t0002 a0026c0043t0001 a0031c0053t0001	a0004c0003t0001g0001 a0004c0003t0001g0003 a0004c0003t0001g0009 others(20): Show a0004c0003t0001g0001 a0004c0003t0001g0003 a0004c0003t0001g0009 a0004c0003t0001g0011 a0004c0003t0001g0014 a0004c0003t0001g0018 a0004c0003t0001g0019 a0004c0003t0001g0068 a0004c0003t0001g0070 a0004c0003t0001g0072 a0004c0003t0001g0078 a0004c0003t0001g0084 a0004c0003t0001g0088 a0004c0003t0001g0094 a0004c0003t0001g0110 a0004c0003t0001g0131 a0004c0003t0002g0014 a0004c0003t0002g0040 a0004c0003t0002g0041 a0004c0003t0012g0018 a0015c0023t0002g0014 a0026c0043t0001g0076 a0031c0053t0001g0019	38	414	0.0918	-9	c.150 others(18): Show c.1500_1508delGCAGCAGCA	p.Gln others(13): Show p.Gln500_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2088/4702	1500/3573	500/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(5): Show ACAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp1 HG01109.hp1 HG01358.hp2 others(14): Show HG00738.hp1 HG01109.hp1 HG01358.hp2 HG02717.hp1 NA18522.hp1 NA18941.hp2 NA18950.hp2 NA18952.hp1 NA18981.hp1 NA18994.hp1 NA18999.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19072.hp1 NA19078.hp2 NA19090.hp1	a0010 a0025 a0010 a0025	a0010c0008 a0025c0044 a0010c0008 a0025c0044	a0010c0008t0001 a0025c0044t0001 a0010c0008t0001 a0025c0044t0001	a0010c0008t0001g0001 a0010c0008t0001g0009 a0010c0008t0001g0026 others(8): Show a0010c0008t0001g0001 a0010c0008t0001g0009 a0010c0008t0001g0026 a0010c0008t0001g0083 a0010c0008t0001g0089 a0010c0008t0001g0090 a0010c0008t0001g0096 a0010c0008t0001g0103 a0010c0008t0001g0104 a0010c0008t0001g0108 a0025c0044t0001g0009	17	414	0.0411	-12	c.149 others(21): Show c.1497_1508delGCAGCAGCAGCA	p.Gln others(13): Show p.Gln499_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2085/4702	1497/3573	499/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(8): Show ACAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(47): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00673.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01496.hp2 HG02015.hp2 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02523.hp1 HG02602.hp2 HG02809.hp1 HG03017.hp2 HG03688.hp2 HG03927.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18986.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19067.hp2 NA19074.hp2 NA19081.hp2 NA19088.hp1 NA20805.hp2	a0002 a0016 a0002 a0016	a0002c0002 a0002c0028 a0002c0045 others(2): Show a0002c0002 a0002c0028 a0002c0045 a0002c0046 a0016c0024	a0002c0002t0001 a0002c0028t0001 a0002c0045t0001 others(2): Show a0002c0002t0001 a0002c0028t0001 a0002c0045t0001 a0002c0046t0001 a0016c0024t0001	a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0015 others(18): Show a0002c0002t0001g0001 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0028 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0086 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0112 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0028t0001g0001 a0002c0028t0001g0039 a0002c0045t0001g0032 a0002c0046t0001g0042 a0016c0024t0001g0015	50	414	0.1208	-15	c.149 others(24): Show c.1494_1508delGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln498_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2082/4702	1494/3573	498/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(11): Show ACAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02135.hp2 HG02258.hp2 HG02809.hp2 others(7): Show HG02135.hp2 HG02258.hp2 HG02809.hp2 HG02965.hp2 HG04115.hp2 NA18522.hp2 NA19074.hp1 NA19076.hp1 NA19085.hp2 NA19240.hp1	a0011 a0011	a0011c0016 a0011c0020 a0011c0016 a0011c0020	a0011c0016t0001 a0011c0016t0005 a0011c0016t0006 others(1): Show a0011c0016t0001 a0011c0016t0005 a0011c0016t0006 a0011c0020t0006	a0011c0016t0001g0043 a0011c0016t0005g0017 a0011c0016t0005g0050 others(3): Show a0011c0016t0001g0043 a0011c0016t0005g0017 a0011c0016t0005g0050 a0011c0016t0006g0022 a0011c0020t0006g0022 a0011c0020t0006g0049	10	414	0.0242	-18	c.149 others(27): Show c.1491_1508delGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln497_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2079/4702	1491/3573	497/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(14): Show ACAGCAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00733.hp2 HG01081.hp1 others(15): Show HG00323.hp1 HG00733.hp2 HG01081.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01346.hp2 HG02027.hp2 HG02056.hp1 HG02602.hp1 HG03139.hp2 HG03688.hp1 HG04228.hp2 NA18973.hp1 NA19063.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0009 a0030 a0009 a0030	a0009c0007 a0030c0050 a0009c0007 a0030c0050	a0009c0007t0001 a0009c0007t0007 a0030c0050t0007 a0009c0007t0001 a0009c0007t0007 a0030c0050t0007	a0009c0007t0001g0001 a0009c0007t0001g0013 a0009c0007t0001g0043 others(8): Show a0009c0007t0001g0001 a0009c0007t0001g0013 a0009c0007t0001g0043 a0009c0007t0001g0066 a0009c0007t0001g0067 a0009c0007t0001g0077 a0009c0007t0001g0082 a0009c0007t0001g0100 a0009c0007t0001g0106 a0009c0007t0007g0001 a0030c0050t0007g0001	18	414	0.0435	-21	c.148 others(30): Show c.1488_1508delGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln496_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2076/4702	1488/3573	496/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(17): Show ACAGCAGCAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00609.hp2 NA18944.hp1 NA18982.hp1 others(1): Show HG00609.hp2 NA18944.hp1 NA18982.hp1 NA18993.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0006 a0014c0018t0001g0062 a0014c0018t0001g0006 a0014c0018t0001g0062	4	414	0.0097	-24	c.148 others(33): Show c.1485_1508delGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln495_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2073/4702	1485/3573	495/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(20): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04199.hp1 HG04199.hp1	a0024 a0024	a0024c0047 a0024c0047	a0024c0047t0001 a0024c0047t0001	a0024c0047t0001g0003 a0024c0047t0001g0003	1	414	0.0024	-27	c.148 others(36): Show c.1482_1508delGCAGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln494_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2070/4702	1482/3573	494/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(29): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp2 HG02723.hp2	a0023 a0023	a0023c0048 a0023c0048	a0023c0048t0004 a0023c0048t0004	a0023c0048t0004g0005 a0023c0048t0004g0005	1	414	0.0024	-36	c.147 others(45): Show c.1473_1508delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln491_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2061/4702	1473/3573	491/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATOH8_chr2_85748991_85796383	85754556	ACGC ACGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp2 HG02717.hp2 HG02886.hp2 others(3): Show HG02559.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03471.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0006 a0004c0006t0008 others(1): Show a0004c0006t0002 a0004c0006t0006 a0004c0006t0008 a0004c0006t0012	a0004c0006t0002g0046 a0004c0006t0002g0047 a0004c0006t0002g0050 others(3): Show a0004c0006t0002g0046 a0004c0006t0002g0047 a0004c0006t0002g0050 a0004c0006t0006g0045 a0004c0006t0008g0049 a0004c0006t0012g0048	6	378	0.0159	-3	c.384 others(10): Show c.384_386delGCC	p.Pro others(6): Show p.Pro129del	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	1/3	583/5658	384/966	128/321	INFO_REALIGN_3_PRIME	chr2	TogoVar
ATXN1_chr6_16294112_16766460	16327633	GTGC GTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00423.hp1 HG00609.hp1 others(13): Show HG00140.hp2 HG00423.hp1 HG00609.hp1 HG00735.hp1 HG01070.hp1 HG01243.hp1 HG02056.hp1 HG02258.hp2 HG02451.hp1 HG04115.hp1 NA18747.hp2 NA18942.hp1 NA18952.hp2 NA18960.hp2 NA18972.hp1 NA19030.hp1	a0008 a0013 a0019 others(3): Show a0008 a0013 a0019 a0022 a0027 a0030	a0008c0012 a0008c0024 a0013c0013 others(5): Show a0008c0012 a0008c0024 a0013c0013 a0013c0038 a0019c0026 a0022c0019 a0027c0049 a0030c0058	a0008c0012t0005 a0008c0024t0001 a0013c0013t0005 others(7): Show a0008c0012t0005 a0008c0024t0001 a0013c0013t0005 a0013c0013t0016 a0013c0038t0034 a0019c0026t0001 a0019c0026t0019 a0022c0019t0001 a0027c0049t0003 a0030c0058t0018	a0008c0012t0005g0078 a0008c0012t0005g0091 a0008c0012t0005g0092 others(13): Show a0008c0012t0005g0078 a0008c0012t0005g0091 a0008c0012t0005g0092 a0008c0012t0005g0168 a0008c0024t0001g0074 a0008c0024t0001g0143 a0013c0013t0005g0036 a0013c0013t0005g0100 a0013c0013t0016g0153 a0013c0038t0034g0139 a0019c0026t0001g0098 a0019c0026t0019g0001 a0022c0019t0001g0025 a0022c0019t0001g0127 a0027c0049t0003g0149 a0030c0058t0018g0054	16	182	0.0879	-3	c.675 others(10): Show c.675_677delGCA	p.Gln others(6): Show p.Gln225del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1569/10557	675/2448	225/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327633	GTGCTGCT others(5): Show GTGCTGCTGCTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00438.hp1 HG00597.hp2 others(23): Show HG00408.hp1 HG00438.hp1 HG00597.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02735.hp1 HG03492.hp1 HG03834.hp2 HG06807.hp2 NA18747.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18973.hp1 NA18993.hp1 NA18993.hp2 NA19009.hp2 NA19062.hp1	a0004 a0011 a0020 others(2): Show a0004 a0011 a0020 a0023 a0029	a0004c0005 a0004c0015 a0004c0023 others(7): Show a0004c0005 a0004c0015 a0004c0023 a0004c0031 a0004c0041 a0011c0007 a0020c0020 a0023c0034 a0023c0035 a0029c0057	a0004c0005t0002 a0004c0005t0008 a0004c0015t0001 others(11): Show a0004c0005t0002 a0004c0005t0008 a0004c0015t0001 a0004c0023t0002 a0004c0023t0009 a0004c0031t0002 a0004c0041t0001 a0011c0007t0002 a0011c0007t0003 a0020c0020t0026 a0020c0020t0032 a0023c0034t0002 a0023c0035t0001 a0029c0057t0001	a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 others(23): Show a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0005t0008g0068 a0004c0015t0001g0152 a0004c0015t0001g0157 a0004c0015t0001g0176 a0004c0023t0002g0035 a0004c0023t0009g0110 a0004c0031t0002g0101 a0004c0041t0001g0156 a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0162 a0011c0007t0002g0169 a0011c0007t0002g0172 a0011c0007t0003g0066 a0020c0020t0026g0088 a0020c0020t0032g0099 a0023c0034t0002g0124 a0023c0035t0001g0064 a0029c0057t0001g0016	26	182	0.1429	-12	c.666 others(19): Show c.666_677delGCAGCAGCAGCA	p.Gln others(13): Show p.Gln222_Gln225del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1569/10557	666/2448	222/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327654	CTGCTGCT others(23): Show CTGCTGCTGCTGCTGCTGCTGCTGATGCTGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp2 HG02895.hp2	a0037 a0037	a0037c0032 a0037c0032	a0037c0032t0002 a0037c0032t0002	a0037c0032t0002g0170 a0037c0032t0002g0170	1	182	0.0055	-30	c.627 others(37): Show c.627_656delTCAGCATCAGCAGCAGCAGCAGCAGCAGCA	p.His others(13): Show p.His209_Gln218del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1548/10557	627/2448	209/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327657	CTGCTGCT others(20): Show CTGCTGCTGCTGCTGCTGCTGATGCTGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02055.hp2	a0038 a0038	a0038c0033 a0038c0033	a0038c0033t0002 a0038c0033t0002	a0038c0033t0002g0004 a0038c0033t0002g0004	1	182	0.0055	-27	c.627 others(34): Show c.627_653delTCAGCATCAGCAGCAGCAGCAGCAGCA	p.His others(13): Show p.His209_Gln217del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1545/10557	627/2448	209/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327672	CTGCTGA CTGCTGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG01243.hp1 HG02630.hp2 others(6): Show HG01109.hp2 HG01243.hp1 HG02630.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG06807.hp2 NA18906.hp1	a0007 a0029 a0030 a0007 a0029 a0030	a0007c0009 a0007c0059 a0029c0057 others(1): Show a0007c0009 a0007c0059 a0029c0057 a0030c0058	a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 others(3): Show a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0007c0059t0012 a0029c0057t0001 a0030c0058t0018	a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 others(6): Show a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0002g0164 a0007c0009t0035g0018 a0007c0009t0049g0005 a0007c0059t0012g0030 a0029c0057t0001g0016 a0030c0058t0018g0054	9	182	0.0495	-6	c.633 others(13): Show c.633_638delTCAGCA	p.His others(13): Show p.His211_Gln212del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1530/10557	633/2448	211/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327678	ATGCTGAT others(2): Show ATGCTGATGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(36): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG02004.hp2 HG02056.hp2 HG02132.hp1 HG02257.hp1 HG02523.hp1 HG02615.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03688.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp2 NA18944.hp2 NA18955.hp2 NA18972.hp2 NA18973.hp2 NA18986.hp1 NA19007.hp2 NA19009.hp1 NA19060.hp1 NA19062.hp2 NA19240.hp1 NA20300.hp2	a0002 a0005 a0014 others(1): Show a0002 a0005 a0014 a0026	a0002c0002 a0002c0004 a0005c0006 others(3): Show a0002c0002 a0002c0004 a0005c0006 a0005c0060 a0014c0017 a0026c0061	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(16): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0014c0017t0004 a0014c0017t0025 a0026c0061t0036	a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 others(36): Show a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0007g0136 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0138 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0010g0015 a0002c0002t0016g0111 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0002c0004t0001g0182 a0002c0004t0017g0121 a0002c0004t0017g0179 a0005c0006t0003g0006 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0114 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0014c0017t0004g0044 a0014c0017t0004g0171 a0014c0017t0025g0142 a0026c0061t0036g0095	39	182	0.2143	-9	c.624 others(16): Show c.624_632delGCATCAGCA	p.Gln others(13): Show p.Gln208_Gln210del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1524/10557	624/2448	208/815		chr6	TogoVar
ATXN1_chr6_16294112_16766460	16327678	ATGCTGAT others(5): Show ATGCTGATGCTGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp2 HG02280.hp2	a0025 a0025	a0025c0062 a0025c0062	a0025c0062t0038 a0025c0062t0038	a0025c0062t0038g0087 a0025c0062t0038g0087	1	182	0.0055	-12	c.621 others(19): Show c.621_632delGCAGCATCAGCA	p.Gln others(13): Show p.Gln207_Gln210del	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	7/8	1524/10557	621/2448	207/815		chr6	TogoVar
ATXN2L_chr16_28817999_28842232	28830647	TCCGGGAA others(5): Show TCCGGGAAGGTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19084.hp2 NA19084.hp2	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0001 a0009c0023t0001	a0009c0023t0001g0041 a0009c0023t0001g0041	1	382	0.0026	-12	c.107 others(21): Show c.1073_1084delAAGGTCCCCGGG	p.Glu others(13): Show p.Glu358_Arg361del	ATXN2L	ENSG00000168488.19	transcript	ENST00000336783.9	protein_coding	9/22	1334/4456	1073/3228	358/1075	INFO_REALIGN_3_PRIME	chr16	TogoVar
ATXN2_chr12_111447214_111604315	111598949	GGCT GGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(246): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0008 others(8): Show a0001c0001 a0001c0003 a0001c0008 a0001c0012 a0001c0026 a0002c0002 a0002c0016 a0003c0004 a0009c0017 a0010c0018 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0003t0003 a0001c0008t0007 a0001c0012t0001 a0001c0026t0001 a0002c0002t0001 a0002c0002t0003 a0002c0016t0001 a0003c0004t0003 a0009c0017t0001 a0010c0018t0002 a0011c0019t0002	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0002g0217 others(246): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0003g0009 a0001c0001t0004g0216 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0283 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0006g0232 a0001c0001t0006g0235 a0001c0001t0006g0257 a0001c0001t0006g0265 a0001c0001t0006g0267 a0001c0001t0006g0274 a0001c0001t0006g0279 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0189 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0003g0140 a0001c0003t0003g0152 a0001c0003t0003g0154 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0174 a0001c0003t0003g0175 a0001c0003t0003g0190 a0001c0008t0007g0145 a0001c0008t0007g0146 a0001c0008t0007g0184 a0001c0012t0001g0153 a0001c0012t0001g0188 a0001c0026t0001g0160 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0075 a0002c0016t0001g0057 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105 a0009c0017t0001g0083 a0010c0018t0002g0244 a0011c0019t0002g0255	249	298	0.8356	-3	c.83_ others(8): Show c.83_85delAGC	p.Gln others(5): Show p.Gln28del	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	83/3468	28/1155		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598949	GGCTGCTG others(5): Show GGCTGCTGCTGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18942.hp1 NA18991.hp2 NA18942.hp1 NA18991.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0198 a0004c0013t0001g0199 a0004c0013t0001g0198 a0004c0013t0001g0199	2	298	0.0067	-12	c.74_ others(17): Show c.74_85delAGCAGCAGCAGC	p.Gln others(11): Show p.Gln25_Gln28del	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	366/4347	74/3468	25/1155		chr12	TogoVar
ATXN2_chr12_111447214_111604315	111598969	CTGCTGCT others(2): Show CTGCTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02257.hp1 HG02896.hp1 HG02897.hp2 HG02257.hp1 HG02896.hp1 HG02897.hp2	a0005 a0008 a0005 a0008	a0005c0009 a0008c0023 a0005c0009 a0008c0023	a0005c0009t0001 a0008c0023t0003 a0005c0009t0001 a0008c0023t0003	a0005c0009t0001g0001 a0005c0009t0001g0002 a0008c0023t0003g0119 a0005c0009t0001g0001 a0005c0009t0001g0002 a0008c0023t0003g0119	3	298	0.0101	-9	c.57_ others(14): Show c.57_65delACAGCAGCA	p.Gln others(11): Show p.Gln20_Gln22del	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/25	346/4347	57/3468	19/1155		chr12	TogoVar
ATXN3L_chrX_13313647_13325053	13319623	AATGCCGA others(11): Show AATGCCGAGCTTCTGATAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	2	317	0.0063	-18	c.294 others(25): Show c.294_311delATATCAGAAGCTCGGCAT	p.Glu others(18): Show p.Glu98_Ile104delinsAsp	ATXN3L	ENSG00000123594.7	transcript	ENST00000380622.5	protein_coding	1/1	430/1407	294/1068	98/355		chrX	TogoVar
ATXN7_chr3_63858867_64008462	63912684	GGCA GGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp2 HG03471.hp2 HG03486.hp2 others(2): Show HG02723.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 NA18906.hp2	a0010 a0021 a0010 a0021	a0010c0011 a0021c0035 a0010c0011 a0021c0035	a0010c0011t0014 a0021c0035t0052 a0010c0011t0014 a0021c0035t0052	a0010c0011t0014g0019 a0010c0011t0014g0028 a0010c0011t0014g0029 others(2): Show a0010c0011t0014g0019 a0010c0011t0014g0028 a0010c0011t0014g0029 a0010c0011t0014g0030 a0021c0035t0052g0014	5	300	0.0167	-3	c.116 others(10): Show c.116_118delAGC	p.Gln others(5): Show p.Gln39del	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	518/7076	116/2679	39/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
ATXN7_chr3_63858867_64008462	63912684	GGCAGCAG others(2): Show GGCAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp2 HG03041.hp1 NA18945.hp2 others(6): Show HG02895.hp2 HG03041.hp1 NA18945.hp2 NA18959.hp1 NA18963.hp2 NA18968.hp1 NA18972.hp1 NA19068.hp1 NA19084.hp2	a0007 a0015 a0020 a0007 a0015 a0020	a0007c0008 a0015c0037 a0015c0038 others(1): Show a0007c0008 a0015c0037 a0015c0038 a0020c0036	a0007c0008t0002 a0007c0008t0028 a0015c0037t0030 others(2): Show a0007c0008t0002 a0007c0008t0028 a0015c0037t0030 a0015c0038t0016 a0020c0036t0002	a0007c0008t0002g0211 a0007c0008t0002g0229 a0007c0008t0002g0289 others(6): Show a0007c0008t0002g0211 a0007c0008t0002g0229 a0007c0008t0002g0289 a0007c0008t0002g0290 a0007c0008t0028g0210 a0007c0008t0028g0226 a0015c0037t0030g0231 a0015c0038t0016g0230 a0020c0036t0002g0228	9	300	0.0300	-9	c.110 others(16): Show c.110_118delAGCAGCAGC	p.Gln others(11): Show p.Gln37_Gln39del	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	3/13	512/7076	110/2679	37/892	INFO_REALIGN_3_PRIME	chr3	TogoVar
AVEN_chr15_33861227_34044204	34038912	CCCGCCGC others(5): Show CCCGCCGCCGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG01069.hp2 HG01106.hp2 others(13): Show HG00099.hp2 HG01069.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG02602.hp1 HG02738.hp1 HG02809.hp1 HG03927.hp1 HG03942.hp1 HG04228.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0007 a0003c0003 a0005c0007	a0003c0003t0001 a0003c0003t0003 a0005c0007t0003 a0003c0003t0001 a0003c0003t0003 a0005c0007t0003	a0003c0003t0001g0263 a0003c0003t0003g0001 a0003c0003t0003g0002 others(13): Show a0003c0003t0001g0263 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0015 a0005c0007t0003g0006 a0005c0007t0003g0009 a0005c0007t0003g0010	16	266	0.0602	-12	c.123 others(19): Show c.123_134delAGGCGGCGGCGG	p.Gly others(11): Show p.Gly42_Gly45del	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	1/6	292/1633	123/1089	41/362		chr15	TogoVar
AWAT2_chrX_70035542_70054938	70041893	AGTGTGTG others(5): Show AGTGTGTGATATT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19059.hp2 NA19059.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0024 a0003c0003t0006g0024	1	338	0.0030	-12	c.905 others(19): Show c.905_916delAATATCACACAC	p.Lys others(19): Show p.Lys302_Leu306delinsIle	AWAT2	ENSG00000147160.9	transcript	ENST00000276101.7	protein_coding	7/8	922/2124	905/1002	302/333		chrX	TogoVar
AXIN2_chr17_65523563_65566648	65536436	ACGGGGGG others(5): Show ACGGGGGGTGGTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02630.hp2 HG02717.hp2 others(5): Show HG02055.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG03139.hp2 HG03209.hp2 HG03579.hp2 NA18906.hp2	a0003 a0015 a0016 a0003 a0015 a0016	a0003c0009 a0015c0027 a0016c0028 a0003c0009 a0015c0027 a0016c0028	a0003c0009t0004 a0003c0009t0008 a0003c0009t0019 others(2): Show a0003c0009t0004 a0003c0009t0008 a0003c0009t0019 a0015c0027t0004 a0016c0028t0022	a0003c0009t0004g0063 a0003c0009t0004g0273 a0003c0009t0008g0057 others(4): Show a0003c0009t0004g0063 a0003c0009t0004g0273 a0003c0009t0008g0057 a0003c0009t0008g0322 a0003c0009t0019g0259 a0015c0027t0004g0152 a0016c0028t0022g0162	8	402	0.0199	-12	c.201 others(21): Show c.2013_2024delCACCACCCCCCG	p.Thr others(13): Show p.Thr672_Arg675del	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	8/11	2339/4260	2013/2532	671/843		chr17	TogoVar
B4GALNT4_chr11_364499_387117	377086	CCGGGCGA others(17): Show CCGGGCGACGAGGCCGCGTCGGAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03490.hp1 HG03490.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0108 a0012c0016t0001g0108	1	184	0.0054	-24	c.196 others(33): Show c.1964_1987delCGGGCGACGAGGCCGCGTCGGAGG	p.Pro others(19): Show p.Pro655_Asp663delinsHis	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	14/20	2269/3750	1964/3120	655/1039		chr11	TogoVar
BAG1_chr9_33247471_33269708	33264394	AGGGTCAA others(11): Show AGGGTCAACTCCTCGCTCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp1 NA18747.hp2 HG00423.hp1 NA18747.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0113 a0001c0005t0001g0114 a0001c0005t0001g0113 a0001c0005t0001g0114	2	348	0.0058	-18	c.263 others(25): Show c.263_280delGGAGCGAGGAGTTGACCC	p.Arg others(11): Show p.Arg88_Thr93del	BAG1	ENSG00000107262.26	transcript	ENST00000634734.3	protein_coding	1/7	314/3820	263/1038	88/345		chr9	TogoVar
BAHCC1_chr17_81390457_81471331	81456347	CGTGGCCC others(5): Show CGTGGCCCACAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02258.hp1	a0053 a0053	a0053c0040 a0053c0040	a0053c0040t0002 a0053c0040t0002	a0053c0040t0002g0268 a0053c0040t0002g0268	1	332	0.0030	-12	c.462 others(21): Show c.4629_4640delCAGGGTGGCCCA	p.His others(15): Show p.His1543_Ala1546del	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	16/28	5014/10726	4629/7827	1543/2608	INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L2_chr22_38079900_38115684	38086345	GTGCGGGA others(35): Show GTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG01071.hp1 NA19077.hp2 others(1): Show HG00099.hp1 HG01071.hp1 NA19077.hp2 NA20905.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0005 a0003c0003 a0007c0005	a0003c0003t0001 a0003c0003t0002 a0007c0005t0002 a0003c0003t0001 a0003c0003t0002 a0007c0005t0002	a0003c0003t0001g0004 a0003c0003t0002g0017 a0003c0003t0002g0018 others(1): Show a0003c0003t0001g0004 a0003c0003t0002g0017 a0003c0003t0002g0018 a0007c0005t0002g0016	4	18	0.2222	-42	c.132 others(51): Show c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCT CCCGCA	p.Ile others(13): Show p.Ile441_Arg454del	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	12/14	1522/2149	1322/1590	441/529		chr22	TogoVar
BBX_chr3_107517962_107816339	107772911	TAGA TAGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00733.hp1 HG00738.hp1 HG01175.hp1 others(6): Show HG00733.hp1 HG00738.hp1 HG01175.hp1 HG01256.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01993.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0050 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0050 a0002c0002t0051	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0008 others(6): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0150 a0002c0002t0005g0010 a0002c0002t0050g0011 a0002c0002t0051g0056	9	222	0.0405	-3	c.119 others(12): Show c.1197_1199delAGA	p.Glu others(6): Show p.Glu399del	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	11/18	1498/9009	1197/2826	399/941	INFO_REALIGN_3_PRIME	chr3	TogoVar
BCOR_chrX_40046251_40102958	40074408	GGCT GGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18942.hp2 NA19087.hp2 NA18942.hp2 NA19087.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0009 a0002c0007t0006g0010 a0002c0007t0006g0009 a0002c0007t0006g0010	2	257	0.0078	-3	c.935 others(10): Show c.935_937delAGC	p.Gln others(6): Show p.Gln312del	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	4/15	1721/6910	935/5268	312/1755		chrX	TogoVar
BHLHE22_chr8_64575365_64588627	64581463	GGCAGCAG others(5): Show GGCAGCAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01928.hp2 HG01928.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0000 a0014c0020t0001g0000	1	432	0.0023	-12	c.692 others(19): Show c.692_703delGCAGCAGCAGCA	p.Ser others(13): Show p.Ser231_Ser234del	BHLHE22	ENSG00000180828.3	transcript	ENST00000321870.3	protein_coding	1/1	1118/3263	692/1146	231/381	INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP2K_chr4_78771350_78921365	78870928	CCAG CCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp1 HG01891.hp1 HG02559.hp2 others(9): Show HG00735.hp1 HG01891.hp1 HG02559.hp2 HG02622.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0009 a0003c0005t0008 a0003c0005t0009	a0003c0005t0008g0021 a0003c0005t0008g0129 a0003c0005t0008g0130 others(8): Show a0003c0005t0008g0021 a0003c0005t0008g0129 a0003c0005t0008g0130 a0003c0005t0008g0132 a0003c0005t0008g0133 a0003c0005t0008g0134 a0003c0005t0009g0001 a0003c0005t0009g0020 a0003c0005t0009g0131 a0003c0005t0009g0135 a0003c0005t0009g0136	12	204	0.0588	-3	c.140 others(12): Show c.1401_1403delGCA	p.Gln others(6): Show p.Gln468del	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	11/16	1595/8012	1401/3486	467/1161	INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78870928	CCAGCAGC others(8): Show CCAGCAGCAGCAGCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG02976.hp2 NA18522.hp1 HG02280.hp1 HG02976.hp2 NA18522.hp1	a0008 a0011 a0008 a0011	a0008c0014 a0011c0026 a0008c0014 a0011c0026	a0008c0014t0023 a0008c0014t0024 a0011c0026t0025 a0008c0014t0023 a0008c0014t0024 a0011c0026t0025	a0008c0014t0023g0111 a0008c0014t0024g0110 a0011c0026t0025g0109 a0008c0014t0023g0111 a0008c0014t0024g0110 a0011c0026t0025g0109	3	204	0.0147	-15	c.138 others(24): Show c.1389_1403delGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln464_Gln468del	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	11/16	1583/8012	1389/3486	463/1161	INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78870982	ACAG ACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18998.hp2 NA19084.hp2 NA18998.hp2 NA19084.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0118 a0003c0011t0001g0122 a0003c0011t0001g0118 a0003c0011t0001g0122	2	204	0.0098	-3	c.145 others(12): Show c.1458_1460delGCA	p.Gln others(6): Show p.Gln486del	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	11/16	1652/8012	1458/3486	486/1161	INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78870982	ACAGCAGC others(2): Show ACAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18954.hp2 NA19055.hp1 NA18954.hp2 NA19055.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0079 a0009c0009t0001g0095 a0009c0009t0001g0079 a0009c0009t0001g0095	2	204	0.0098	-9	c.145 others(18): Show c.1452_1460delGCAGCAGCA	p.Gln others(13): Show p.Gln484_Gln486del	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	11/16	1646/8012	1452/3486	484/1161	INFO_REALIGN_3_PRIME	chr4	TogoVar
BRD2_chr6_32963594_32986501	32977921	TGAG TGAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp2 HG01169.hp1 HG02080.hp1 others(6): Show HG01168.hp2 HG01169.hp1 HG02080.hp1 HG03490.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA20300.hp1	a0002 a0002	a0002c0008 a0002c0018 a0002c0008 a0002c0018	a0002c0008t0013 a0002c0018t0016 a0002c0008t0013 a0002c0018t0016	a0002c0008t0013g0012 a0002c0018t0016g0060 a0002c0008t0013g0012 a0002c0018t0016g0060	9	469	0.0192	-3	c.150 others(12): Show c.1500_1502delGGA	p.Glu others(6): Show p.Glu500del	BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding	9/13	3267/4956	1500/2406	500/801	INFO_REALIGN_3_PRIME	chr6	TogoVar
BSPRY_chr9_113344541_113376222	113349599	AGCCGGGG others(23): Show AGCCGGGGCCGGGGTCCGGGTCCGGGCCCGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0063 a0009c0009t0001g0063	1	448	0.0022	-30	c.30_ others(35): Show c.30_59delGGGGTCCGGGTCCGGGCCCGGGCCGGGGCC	p.Gly others(11): Show p.Gly11_Pro20del	BSPRY	ENSG00000119411.11	transcript	ENST00000374183.5	protein_coding	1/6	69/2328	30/1209	10/402	INFO_REALIGN_3_PRIME	chr9	TogoVar
BUD13_chr11_116743173_116777987	116760748	GGCTGACT others(26): Show GGCTGACTCCTTCGAGGCGGGGACAGGTCAGAAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18966.hp2 NA18966.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0133 a0010c0017t0002g0133	1	440	0.0023	-33	c.120 others(42): Show c.1208_1240delATTCTGACCTGTCCCCGCCTCGAAGGAGTCAGC	p.Asp others(19): Show p.Asp403_Pro414delinsAla	BUD13	ENSG00000137656.12	transcript	ENST00000260210.5	protein_coding	5/10	1263/2192	1208/1860	403/619		chr11	TogoVar
C15orf39_chr15_75196882_75217169	75207621	ACTGAGCC others(14): Show ACTGAGCCTGACTCTGCCACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp2 HG02280.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0002 a0011c0021t0002	a0011c0021t0002g0046 a0011c0021t0002g0046	1	346	0.0029	-21	c.158 others(30): Show c.1587_1607delTGCCACAGCTGAGCCTGACTC	p.Ala others(13): Show p.Ala530_Ser536del	C15orf39	ENSG00000167173.19	transcript	ENST00000394987.5	protein_coding	2/3	1815/4425	1587/3144	529/1047	INFO_REALIGN_3_PRIME	chr15	TogoVar
C16orf78_chr16_49368804_49404431	49396542	ACCTTCAT others(5): Show ACCTTCATAAGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp2 HG02572.hp1 HG02717.hp1 others(2): Show HG02559.hp2 HG02572.hp1 HG02717.hp1 HG03130.hp1 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0025 a0004c0004t0001g0162 a0004c0004t0001g0163 a0004c0004t0001g0025 a0004c0004t0001g0162 a0004c0004t0001g0163	5	356	0.0140	-12	c.515 others(19): Show c.515_526delCCTTCATAAGAG	p.Thr others(19): Show p.Thr172_Asp176delinsAsn	C16orf78	ENSG00000166152.4	transcript	ENST00000299191.4	protein_coding	4/5	651/1087	515/798	172/265		chr16	TogoVar
C16orf96_chr16_4551340_4605758	4575941	GGTCCCCA others(53): Show GGTCCCCAAAGATAGAGGTGGCAAGGATGTGGACCCCAAGGATAGAGCTC ACAAGGATGAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp2 HG01175.hp2 HG01243.hp2 others(1): Show HG00642.hp2 HG01175.hp2 HG01243.hp2 HG02572.hp2	a0013 a0016 a0019 others(1): Show a0013 a0016 a0019 a0020	a0013c0019 a0016c0021 a0019c0026 others(1): Show a0013c0019 a0016c0021 a0019c0026 a0020c0025	a0013c0019t0005 a0016c0021t0008 a0019c0026t0005 others(1): Show a0013c0019t0005 a0016c0021t0008 a0019c0026t0005 a0020c0025t0022	a0013c0019t0005g0269 a0016c0021t0008g0268 a0019c0026t0005g0176 others(1): Show a0013c0019t0005g0269 a0016c0021t0008g0268 a0019c0026t0005g0176 a0020c0025t0022g0173	4	278	0.0144	-60	c.154 others(69): Show c.1545_1604delGGATGTGGACCCCAAGGATAGAGCTCACAAGGATGA TGTCCCCAAAGATAGAGGTGGCAA	p.Asp others(13): Show p.Asp516_Lys535del	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	5/16	1695/4017	1545/3426	515/1141	INFO_REALIGN_3_PRIME	chr16	TogoVar
C16orf96_chr16_4551340_4605758	4594388	CAGG CAGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp2 HG01175.hp2 HG02055.hp2 others(23): Show HG00642.hp2 HG01175.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA18979.hp1 NA19030.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0004 a0006 a0019 others(3): Show a0004 a0006 a0019 a0020 a0023 a0029	a0004c0004 a0004c0030 a0004c0041 others(6): Show a0004c0004 a0004c0030 a0004c0041 a0004c0044 a0006c0005 a0019c0026 a0020c0025 a0023c0032 a0029c0029	a0004c0004t0005 a0004c0004t0008 a0004c0004t0020 others(9): Show a0004c0004t0005 a0004c0004t0008 a0004c0004t0020 a0004c0030t0008 a0004c0041t0008 a0004c0044t0005 a0006c0005t0005 a0006c0005t0014 a0019c0026t0005 a0020c0025t0022 a0023c0032t0005 a0029c0029t0005	a0004c0004t0005g0001 a0004c0004t0005g0032 a0004c0004t0005g0162 others(22): Show a0004c0004t0005g0001 a0004c0004t0005g0032 a0004c0004t0005g0162 a0004c0004t0005g0163 a0004c0004t0005g0166 a0004c0004t0005g0167 a0004c0004t0005g0168 a0004c0004t0005g0169 a0004c0004t0005g0172 a0004c0004t0005g0177 a0004c0004t0008g0164 a0004c0004t0020g0155 a0004c0030t0008g0170 a0004c0041t0008g0160 a0004c0044t0005g0001 a0006c0005t0005g0008 a0006c0005t0005g0239 a0006c0005t0005g0240 a0006c0005t0005g0241 a0006c0005t0005g0243 a0006c0005t0014g0242 a0019c0026t0005g0176 a0020c0025t0022g0173 a0023c0032t0005g0165 a0029c0029t0005g0175	26	278	0.0935	-3	c.291 others(12): Show c.2910_2912delGGA	p.Glu others(6): Show p.Glu970del	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	13/16	3060/4017	2910/3426	970/1141	INFO_REALIGN_3_PRIME	chr16	TogoVar
C20orf144_chr20_33657327_33668908	33663701	TGCGGCGG others(8): Show TGCGGCGGCAAGAGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01261.hp1 HG01884.hp2 HG02145.hp2 others(10): Show HG01261.hp1 HG01884.hp2 HG02145.hp2 HG02257.hp1 HG02572.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03453.hp1 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0001 a0003c0003t0001g0002	13	386	0.0337	-15	c.305 others(22): Show c.305_319delAAGAGGCGCGGCGGC	p.Gln others(13): Show p.Gln102_Arg106del	C20orf144	ENSG00000149609.6	transcript	ENST00000375222.4	protein_coding	2/2	324/522	305/462	102/153	INFO_REALIGN_3_PRIME	chr20	TogoVar
C2orf16_chr2_27532386_27587722	27581795	CCATCACA others(17): Show CCATCACAGTCCCTCTGAGAGAAGA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03139.hp2 HG03516.hp1 HG03139.hp2 HG03516.hp1	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0001 a0019c0020t0001	a0019c0020t0001g0025 a0019c0020t0001g0026 a0019c0020t0001g0025 a0019c0020t0001g0026	2	326	0.0061	-24	c.154 others(35): Show c.15459_15482delACATCACAGTCCCTCTGAGAGAAG	p.Arg others(15): Show p.Arg5153_Arg5160del	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	5/5	15500/16403	15459/16167	5153/5388	INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27581824	ACAGTCCC others(17): Show ACAGTCCCTCTGAGAGAAGCCATTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp2 HG01255.hp2	a0044 a0044	a0044c0035 a0044c0035	a0044c0035t0001 a0044c0035t0001	a0044c0035t0001g0298 a0044c0035t0001g0298	1	326	0.0031	-24	c.155 others(35): Show c.15507_15530delCCATTGCAGTCCCTCTGAGAGAAG	p.Ser others(15): Show p.Ser5169_Arg5176del	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	5/5	15548/16403	15507/16167	5169/5388	INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf81_chr2_74409177_74426619	74414662	GCTGGGCC others(8): Show GCTGGGCCACCTGACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02735.hp1 HG02735.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0120 a0009c0012t0001g0120	1	402	0.0025	-15	c.150 others(24): Show c.1500_1514delTGTCAGGTGGCCCAG	p.Val others(13): Show p.Val501_Ser505del	C2orf81	ENSG00000284308.2	transcript	ENST00000684111.1	protein_coding	3/3	1573/2059	1500/1848	500/615		chr2	TogoVar

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