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
APC_chr5_112732885_112851239	112839053	TGAA TGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG02486.hp2 HG02572.hp2 HG01243.hp1 HG02486.hp2 HG02572.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0098 a0004c0009t0002g0099 a0004c0009t0002g0100 a0004c0009t0002g0098 a0004c0009t0002g0099 a0004c0009t0002g0100	3	294	0.0102	-3	c.346 others(12): Show c.3468_3470delAGA	p.Glu others(7): Show p.Glu1157del	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	16/16	3527/10704	3468/8532	1156/2843	INFO_REALIGN_3_PRIME	chr5	TogoVar
APLF_chr2_68462585_68585162	68538002	AAAG AAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01109.hp2 HG01192.hp2 others(2): Show HG00639.hp2 HG01109.hp2 HG01192.hp2 HG02738.hp2 HG04228.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0014 a0005c0005t0001 a0005c0005t0014	a0005c0005t0001g0144 a0005c0005t0001g0149 a0005c0005t0001g0153 others(2): Show a0005c0005t0001g0144 a0005c0005t0001g0149 a0005c0005t0001g0153 a0005c0005t0001g0154 a0005c0005t0014g0142	5	176	0.0284	-3	c.938 others(10): Show c.938_940delGAA	p.Arg others(6): Show p.Arg313del	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	7/10	1085/3823	938/1536	313/511	INFO_REALIGN_3_PRIME	chr2	TogoVar
APLP2_chr11_130064894_130149805	130121757	TGAAGAG TGAAGAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG01109.hp2 HG01243.hp1 others(21): Show HG00408.hp1 HG01109.hp2 HG01243.hp1 HG02080.hp1 HG02109.hp2 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp1 NA18948.hp2 NA18994.hp2 NA19010.hp2 NA19084.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp2	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0003 a0004c0004 a0006c0006 a0003c0003 a0004c0004 a0006c0006	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(7): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0010 a0003c0003t0011 a0004c0004t0002 a0004c0004t0003 a0004c0004t0014 a0006c0006t0001	a0003c0003t0001g0001 a0003c0003t0001g0005 a0003c0003t0001g0077 others(20): Show a0003c0003t0001g0001 a0003c0003t0001g0005 a0003c0003t0001g0077 a0003c0003t0002g0132 a0003c0003t0004g0185 a0003c0003t0005g0222 a0003c0003t0005g0224 a0003c0003t0005g0237 a0003c0003t0005g0238 a0003c0003t0010g0022 a0003c0003t0011g0249 a0004c0004t0002g0194 a0004c0004t0003g0006 a0004c0004t0003g0056 a0004c0004t0003g0094 a0004c0004t0003g0151 a0004c0004t0003g0154 a0004c0004t0003g0157 a0004c0004t0003g0164 a0004c0004t0003g0166 a0004c0004t0014g0229 a0006c0006t0001g0071 a0006c0006t0001g0074	24	274	0.0876	-6	c.678 others(13): Show c.678_683delGGAAGA	p.Glu others(13): Show p.Glu226_Glu227del	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	5/17	762/3697	678/2256	226/751	INFO_REALIGN_3_PRIME	chr11	TogoVar
APOBEC3D_chr22_39016127_39038277	39025104	GCTT GCTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp1 HG01081.hp1 HG01099.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0012 a0004c0004t0001 a0004c0004t0012	a0004c0004t0001g0173 a0004c0004t0001g0175 a0004c0004t0012g0172 a0004c0004t0001g0173 a0004c0004t0001g0175 a0004c0004t0012g0172	3	458	0.0066	-3	c.249 others(10): Show c.249_251delCTT	p.Phe others(5): Show p.Phe83del	APOBEC3D	ENSG00000243811.12	transcript	ENST00000216099.13	protein_coding	3/7	642/2515	249/1161	83/386	INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3H_chr22_39092244_39109067	39100317	TAAC TAAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(126): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18972.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18993.hp2 NA18997.hp1 NA19006.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0006 a0007 a0009	a0003c0003 a0004c0004 a0005c0008 others(3): Show a0003c0003 a0004c0004 a0005c0008 a0006c0007 a0007c0006 a0009c0012	a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 others(8): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0009 a0003c0003t0010 a0004c0004t0002 a0004c0004t0003 a0005c0008t0001 a0006c0007t0001 a0007c0006t0006 a0009c0012t0002	a0003c0003t0002g0003 a0003c0003t0002g0008 a0003c0003t0002g0010 others(50): Show a0003c0003t0002g0003 a0003c0003t0002g0008 a0003c0003t0002g0010 a0003c0003t0002g0016 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0024 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0066 a0003c0003t0002g0068 a0003c0003t0002g0070 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0081 a0003c0003t0002g0085 a0003c0003t0003g0027 a0003c0003t0003g0089 a0003c0003t0003g0092 a0003c0003t0003g0093 a0003c0003t0003g0094 a0003c0003t0003g0106 a0003c0003t0003g0107 a0003c0003t0004g0088 a0003c0003t0009g0091 a0003c0003t0010g0090 a0004c0004t0002g0003 a0004c0004t0002g0016 a0004c0004t0002g0018 a0004c0004t0002g0026 a0004c0004t0002g0042 a0004c0004t0002g0069 a0004c0004t0002g0071 a0004c0004t0002g0072 a0004c0004t0002g0073 a0004c0004t0002g0076 a0004c0004t0002g0083 a0004c0004t0002g0084 a0004c0004t0002g0086 a0004c0004t0003g0032 a0005c0008t0001g0025 a0006c0007t0001g0037 a0006c0007t0001g0082 a0007c0006t0006g0044 a0007c0006t0006g0045 a0007c0006t0006g0046 a0009c0012t0002g0003 a0009c0012t0002g0016	129	418	0.3086	-3	c.45_ others(8): Show c.45_47delCAA	p.Asn others(5): Show p.Asn15del	APOBEC3H	ENSG00000100298.16	transcript	ENST00000442487.8	protein_coding	2/5	152/1029	45/552	15/183	INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBR_chr16_28489643_28503964	28495952	TCTCAGGC others(20): Show TCTCAGGCGGGGAGGAGGCTGAGACAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02486.hp1 HG02572.hp2 others(2): Show HG02055.hp2 HG02486.hp1 HG02572.hp2 NA18906.hp2 NA20129.hp2	a0019 a0020 a0039 others(1): Show a0019 a0020 a0039 a0040	a0019c0019 a0020c0026 a0039c0027 others(1): Show a0019c0019 a0020c0026 a0039c0027 a0040c0028	a0019c0019t0001 a0020c0026t0001 a0039c0027t0002 others(1): Show a0019c0019t0001 a0020c0026t0001 a0039c0027t0002 a0040c0028t0002	a0019c0019t0001g0001 a0020c0026t0001g0001 a0039c0027t0002g0001 others(1): Show a0019c0019t0001g0001 a0020c0026t0001g0001 a0039c0027t0002g0001 a0040c0028t0002g0001	5	406	0.0123	-27	c.933 others(34): Show c.933_959delGACAGCCTCAGGCGGGGAGGAGGCTGA	p.Thr others(13): Show p.Thr312_Glu320del	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	972/3792	933/3294	311/1097	INFO_REALIGN_3_PRIME	chr16	TogoVar
APOBR_chr16_28489643_28503964	28495974	GACAGCCT others(20): Show GACAGCCTCAGGCGGGGAGGAGGCTGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18961.hp2 NA18962.hp1 NA18963.hp1 others(13): Show NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18973.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19056.hp2 NA19070.hp2 NA19082.hp1 NA19086.hp2 NA19091.hp1	a0006 a0016 a0020 others(1): Show a0006 a0016 a0020 a0022	a0006c0008 a0006c0030 a0016c0022 others(2): Show a0006c0008 a0006c0030 a0016c0022 a0020c0029 a0022c0059	a0006c0008t0002 a0006c0030t0002 a0016c0022t0001 others(2): Show a0006c0008t0002 a0006c0030t0002 a0016c0022t0001 a0020c0029t0001 a0022c0059t0001	a0006c0008t0002g0001 a0006c0030t0002g0001 a0016c0022t0001g0001 others(3): Show a0006c0008t0002g0001 a0006c0030t0002g0001 a0016c0022t0001g0001 a0016c0022t0001g0003 a0020c0029t0001g0001 a0022c0059t0001g0001	16	406	0.0394	-27	c.957 others(34): Show c.957_983delTGAAACAGCCTCAGGCGGGGAGGAGGC	p.Glu others(13): Show p.Glu320_Ala328del	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	996/3792	957/3294	319/1097	INFO_REALIGN_3_PRIME	chr16	TogoVar
APOBR_chr16_28489643_28503964	28496076	TGGGACAG others(20): Show TGGGACAGCCTCAGGAGGGGAGGAGGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(105): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03927.hp1 HG04228.hp1 HG06807.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18950.hp2 NA18959.hp2 NA18961.hp2 NA18967.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18987.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19067.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0009 others(10): Show a0002 a0003 a0009 a0014 a0015 a0016 a0017 a0024 a0025 a0026 a0027 a0028 a0041	a0002c0002 a0002c0047 a0002c0049 others(15): Show a0002c0002 a0002c0047 a0002c0049 a0002c0051 a0003c0004 a0009c0014 a0009c0020 a0014c0015 a0015c0016 a0016c0022 a0017c0032 a0017c0061 a0024c0052 a0025c0050 a0026c0048 a0027c0053 a0028c0054 a0041c0046	a0002c0002t0001 a0002c0002t0004 a0002c0047t0001 others(16): Show a0002c0002t0001 a0002c0002t0004 a0002c0047t0001 a0002c0049t0001 a0002c0051t0001 a0003c0004t0002 a0009c0014t0002 a0009c0020t0001 a0014c0015t0001 a0015c0016t0001 a0016c0022t0001 a0017c0032t0001 a0017c0061t0002 a0024c0052t0001 a0025c0050t0001 a0026c0048t0001 a0027c0053t0001 a0028c0054t0001 a0041c0046t0001	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0004g0001 others(18): Show a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0004g0001 a0002c0047t0001g0001 a0002c0049t0001g0001 a0002c0051t0001g0001 a0003c0004t0002g0001 a0009c0014t0002g0001 a0009c0020t0001g0001 a0014c0015t0001g0001 a0015c0016t0001g0001 a0016c0022t0001g0001 a0016c0022t0001g0003 a0017c0032t0001g0001 a0017c0061t0002g0001 a0024c0052t0001g0001 a0025c0050t0001g0001 a0026c0048t0001g0001 a0027c0053t0001g0001 a0028c0054t0001g0001 a0041c0046t0001g0001	108	406	0.2660	-27	c.108 others(36): Show c.1083_1109delGGAGGCCGGGACAGCCTCAGGAGGGGA	p.Glu others(13): Show p.Glu361_Gly369del	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	1122/3792	1083/3294	361/1097	INFO_REALIGN_3_PRIME	chr16	TogoVar
APOBR_chr16_28489643_28503964	28496093	GGGA GGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01106.hp2 HG01891.hp1 HG02257.hp1 others(17): Show HG01106.hp2 HG01891.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 NA18522.hp2	a0005 a0010 a0013 others(1): Show a0005 a0010 a0013 a0023	a0005c0009 a0005c0057 a0005c0058 others(4): Show a0005c0009 a0005c0057 a0005c0058 a0010c0017 a0010c0055 a0013c0018 a0023c0056	a0005c0009t0001 a0005c0057t0001 a0005c0058t0001 others(4): Show a0005c0009t0001 a0005c0057t0001 a0005c0058t0001 a0010c0017t0001 a0010c0055t0001 a0013c0018t0001 a0023c0056t0001	a0005c0009t0001g0001 a0005c0057t0001g0001 a0005c0058t0001g0001 others(4): Show a0005c0009t0001g0001 a0005c0057t0001g0001 a0005c0058t0001g0001 a0010c0017t0001g0001 a0010c0055t0001g0001 a0013c0018t0001g0001 a0023c0056t0001g0001	20	406	0.0493	-3	c.105 others(12): Show c.1058_1060delAGG	p.Glu others(6): Show p.Glu353del	APOBR	ENSG00000184730.12	transcript	ENST00000564831.6	protein_coding	2/4	1097/3792	1058/3294	353/1097	INFO_REALIGN_3_PRIME	chr16	TogoVar
APOB_chr2_20996429_21049073	21043902	GGCAGCGC others(2): Show GGCAGCGCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00323.hp2 HG00733.hp1 others(81): Show HG00280.hp1 HG00323.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp2 NA18982.hp2 NA18995.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19065.hp1 NA19066.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0003 a0008 a0012 others(25): Show a0003 a0008 a0012 a0017 a0018 a0020 a0021 a0030 a0031 a0032 a0033 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080	a0003c0002 a0003c0029 a0003c0054 others(30): Show a0003c0002 a0003c0029 a0003c0054 a0003c0057 a0008c0010 a0008c0027 a0012c0012 a0017c0017 a0018c0016 a0020c0024 a0020c0044 a0021c0021 a0030c0028 a0031c0030 a0032c0026 a0033c0025 a0064c0062 a0065c0053 a0066c0058 a0067c0056 a0068c0055 a0069c0052 a0070c0051 a0071c0060 a0072c0059 a0073c0061 a0074c0043 a0075c0048 a0076c0047 a0077c0046 a0078c0045 a0079c0049 a0080c0050	a0003c0002t0001 a0003c0029t0001 a0003c0054t0001 others(31): Show a0003c0002t0001 a0003c0029t0001 a0003c0054t0001 a0003c0057t0001 a0008c0010t0001 a0008c0027t0001 a0012c0012t0001 a0012c0012t0003 a0017c0017t0001 a0018c0016t0001 a0020c0024t0001 a0020c0044t0001 a0021c0021t0001 a0030c0028t0001 a0031c0030t0001 a0032c0026t0001 a0033c0025t0001 a0064c0062t0001 a0065c0053t0001 a0066c0058t0001 a0067c0056t0001 a0068c0055t0001 a0069c0052t0002 a0070c0051t0001 a0071c0060t0001 a0072c0059t0001 a0073c0061t0001 a0074c0043t0001 a0075c0048t0001 a0076c0047t0001 a0077c0046t0002 a0078c0045t0001 a0079c0049t0001 a0080c0050t0001	a0003c0002t0001g0004 a0003c0002t0001g0011 a0003c0002t0001g0012 others(58): Show a0003c0002t0001g0004 a0003c0002t0001g0011 a0003c0002t0001g0012 a0003c0002t0001g0021 a0003c0002t0001g0024 a0003c0002t0001g0083 a0003c0002t0001g0084 a0003c0002t0001g0085 a0003c0002t0001g0089 a0003c0002t0001g0090 a0003c0002t0001g0093 a0003c0002t0001g0097 a0003c0002t0001g0099 a0003c0029t0001g0074 a0003c0029t0001g0087 a0003c0054t0001g0078 a0003c0057t0001g0079 a0008c0010t0001g0006 a0008c0010t0001g0064 a0008c0010t0001g0069 a0008c0027t0001g0017 a0012c0012t0001g0023 a0012c0012t0001g0088 a0012c0012t0001g0091 a0012c0012t0003g0020 a0017c0017t0001g0019 a0017c0017t0001g0086 a0017c0017t0001g0092 a0018c0016t0001g0053 a0018c0016t0001g0054 a0018c0016t0001g0055 a0018c0016t0001g0056 a0020c0024t0001g0059 a0020c0024t0001g0070 a0020c0044t0001g0057 a0021c0021t0001g0065 a0021c0021t0001g0100 a0021c0021t0001g0101 a0030c0028t0001g0075 a0030c0028t0001g0076 a0031c0030t0001g0022 a0032c0026t0001g0058 a0032c0026t0001g0060 a0033c0025t0001g0018 a0064c0062t0001g0098 a0065c0053t0001g0072 a0066c0058t0001g0073 a0067c0056t0001g0082 a0068c0055t0001g0081 a0069c0052t0002g0077 a0070c0051t0001g0080 a0071c0060t0001g0095 a0072c0059t0001g0094 a0073c0061t0001g0096 a0074c0043t0001g0071 a0075c0048t0001g0063 a0076c0047t0001g0062 a0077c0046t0002g0066 a0078c0045t0001g0067 a0079c0049t0001g0068 a0080c0050t0001g0061	84	350	0.2400	-9	c.35_ others(14): Show c.35_43delTGGCGCTGC	p.Leu others(11): Show p.Leu12_Leu14del	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding	1/29	171/14121	35/13692	12/4563		chr2	TogoVar
APOH_chr17_66207033_66234415	66226121	CTGGCTGT others(17): Show CTGGCTGTGATACAAAGATAAAAAA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG01069.hp2 HG01069.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0002 a0014c0017t0002	a0014c0017t0002g0107 a0014c0017t0002g0107	1	386	0.0026	-24	c.242 others(34): Show c.242-21_244delTTTTTTATCTTTGTATCACAGCCA	p.Pro others(5): Show p.Pro81del	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/8	280/1174	242/1038	81/345		chr17	TogoVar
APOL1_chr22_36248133_36272525	36265995	AATAATT AATAATT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02258.hp2 HG02572.hp2 others(8): Show HG01891.hp1 HG02258.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0007 a0005c0005t0001 a0005c0005t0007	a0005c0005t0001g0136 a0005c0005t0007g0013 a0005c0005t0007g0047 others(3): Show a0005c0005t0001g0136 a0005c0005t0007g0013 a0005c0005t0007g0047 a0005c0005t0007g0066 a0005c0005t0007g0118 a0005c0005t0007g0119	11	414	0.0266	-6	c.116 others(15): Show c.1164_1169delTTATAA	p.Asn others(13): Show p.Asn388_Tyr389del	APOL1	ENSG00000100342.22	transcript	ENST00000397278.8	protein_coding	6/6	1270/2795	1164/1197	388/398	INFO_REALIGN_3_PRIME	chr22	TogoVar
APOL5_chr22_35712872_35734483	35726258	TCAACTGT others(44): Show TCAACTGTCCACAGTGATGAGGCTGGTATGCTGTCCTACTTTCTGTTTGA AG	T T	stop_gained others(1): Show stop_gained disruptive_inframe_deletion	HIGH	HG01261.hp2 HG01261.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0003 a0008c0010t0001g0003	1	401	0.0025	-51	c.191 others(58): Show c.191_241delCAACTGTCCACAGTGATGAGGCTGGTATGCTGTCCTAC TTTCTGTTTGAAG	p.Ser others(17): Show p.Ser64_Glu81delinsTer	APOL5	ENSG00000128313.2	transcript	ENST00000249044.2	protein_coding	3/5	191/1438	191/1302	64/433		chr22	TogoVar
ARHGAP33_chr19_35770564_35793822	35786630	TGGTGATG others(41): Show TGGTGATGAGCTGGACTTCAGCCCACCCCGCTGCCTGGAGGGACTCCGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00408.hp1	a0016 a0016	a0016c0033 a0016c0033	a0016c0033t0001 a0016c0033t0001	a0016c0033t0001g0012 a0016c0033t0001g0012	1	420	0.0024	-48	c.216 others(57): Show c.2163_2210delTGATGAGCTGGACTTCAGCCCACCCCGCTGCCTGGA GGGACTCCGGGG	p.Asp others(13): Show p.Asp722_Gly737del	ARHGAP33	ENSG00000004777.19	transcript	ENST00000007510.9	protein_coding	20/21	2258/4352	2163/3864	721/1287	INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41903765	CTATGCTG others(8): Show CTATGCTGAGCGAGTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG00738.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0089 a0006c0005t0001g0089	1	234	0.0043	-15	c.189 others(24): Show c.1899_1913delTATGCTGAGCGAGTT	p.Met others(13): Show p.Met634_Phe638del	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	20/29	2024/3229	1899/2739	633/912		chr19	TogoVar
ARHGEF40_chr14_21065304_21095248	21074796	AGAGGAG AGAGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp2 HG02258.hp2 HG02965.hp1 others(2): Show HG02109.hp2 HG02258.hp2 HG02965.hp1 HG03453.hp2 NA18906.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0016 a0008c0010t0003g0016	5	386	0.0130	-6	c.108 others(15): Show c.1080_1085delAGGAGG	p.Gly others(13): Show p.Gly361_Gly362del	ARHGEF40	ENSG00000165801.10	transcript	ENST00000298694.9	protein_coding	3/24	1173/5893	1080/4560	360/1519	INFO_REALIGN_3_PRIME	chr14	TogoVar
ARID3A_chr19_921035_980939	971929	AAGG AAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(187): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0010 a0011 a0012 a0013	a0001c0001 a0001c0003 a0001c0005 others(15): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0021 a0001c0023 a0001c0026 a0001c0029 a0001c0032 a0001c0050 a0004c0015 a0005c0018 a0006c0031 a0006c0038 a0010c0048 a0011c0025 a0012c0047 a0013c0024	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(161): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0103 a0001c0001t0111 a0001c0001t0123 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0139 a0001c0001t0140 a0001c0001t0142 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0156 a0001c0001t0158 a0001c0001t0160 a0001c0001t0162 a0001c0001t0167 a0001c0001t0169 a0001c0001t0178 a0001c0001t0180 a0001c0001t0184 a0001c0001t0185 a0001c0001t0202 a0001c0001t0203 a0001c0001t0205 a0001c0001t0207 a0001c0001t0209 a0001c0001t0210 a0001c0001t0212 a0001c0001t0213 a0001c0001t0214 a0001c0001t0215 a0001c0001t0217 a0001c0001t0218 a0001c0001t0233 a0001c0001t0235 a0001c0001t0236 a0001c0001t0242 a0001c0001t0243 a0001c0001t0248 a0001c0001t0250 a0001c0001t0251 a0001c0003t0005 a0001c0003t0009 a0001c0003t0012 a0001c0003t0013 a0001c0003t0019 a0001c0003t0020 a0001c0003t0033 a0001c0003t0035 a0001c0003t0037 a0001c0003t0039 a0001c0003t0041 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0095 a0001c0003t0112 a0001c0003t0114 a0001c0003t0120 a0001c0003t0122 a0001c0003t0124 a0001c0003t0134 a0001c0003t0141 a0001c0003t0143 a0001c0003t0144 a0001c0003t0145 a0001c0003t0157 a0001c0003t0159 a0001c0003t0161 a0001c0003t0165 a0001c0003t0166 a0001c0003t0186 a0001c0003t0198 a0001c0003t0201 a0001c0003t0206 a0001c0003t0211 a0001c0003t0219 a0001c0003t0220 a0001c0003t0221 a0001c0003t0222 a0001c0003t0223 a0001c0003t0228 a0001c0003t0232 a0001c0003t0241 a0001c0003t0244 a0001c0003t0245 a0001c0003t0246 a0001c0005t0003 a0001c0005t0009 a0001c0005t0036 a0001c0005t0044 a0001c0005t0048 a0001c0005t0098 a0001c0005t0119 a0001c0005t0138 a0001c0005t0155 a0001c0005t0163 a0001c0005t0171 a0001c0005t0173 a0001c0005t0176 a0001c0005t0177 a0001c0005t0179 a0001c0005t0199 a0001c0005t0216 a0001c0005t0234 a0001c0006t0003 a0001c0006t0004 a0001c0006t0005 a0001c0006t0008 a0001c0006t0113 a0001c0006t0121 a0001c0006t0136 a0001c0006t0137 a0001c0006t0164 a0001c0006t0170 a0001c0006t0175 a0001c0006t0197 a0001c0006t0200 a0001c0006t0204 a0001c0006t0225 a0001c0006t0227 a0001c0021t0135 a0001c0021t0168 a0001c0023t0150 a0001c0023t0151 a0001c0026t0004 a0001c0029t0019 a0001c0032t0005 a0001c0050t0226 a0004c0015t0034 a0004c0015t0110 a0004c0015t0239 a0005c0018t0174 a0005c0018t0224 a0006c0031t0009 a0006c0038t0003 a0010c0048t0247 a0011c0025t0014 a0012c0047t0014 a0013c0024t0208	a0001c0001t0003g0016 a0001c0001t0003g0122 a0001c0001t0003g0143 others(187): Show a0001c0001t0003g0016 a0001c0001t0003g0122 a0001c0001t0003g0143 a0001c0001t0003g0244 a0001c0001t0004g0166 a0001c0001t0004g0185 a0001c0001t0004g0195 a0001c0001t0004g0202 a0001c0001t0005g0138 a0001c0001t0005g0240 a0001c0001t0008g0228 a0001c0001t0008g0364 a0001c0001t0009g0107 a0001c0001t0012g0015 a0001c0001t0012g0130 a0001c0001t0013g0168 a0001c0001t0014g0163 a0001c0001t0014g0227 a0001c0001t0019g0141 a0001c0001t0020g0238 a0001c0001t0036g0205 a0001c0001t0039g0232 a0001c0001t0040g0132 a0001c0001t0040g0157 a0001c0001t0042g0178 a0001c0001t0042g0235 a0001c0001t0043g0164 a0001c0001t0043g0199 a0001c0001t0045g0133 a0001c0001t0046g0188 a0001c0001t0103g0197 a0001c0001t0111g0154 a0001c0001t0123g0324 a0001c0001t0125g0206 a0001c0001t0126g0218 a0001c0001t0127g0236 a0001c0001t0128g0106 a0001c0001t0129g0203 a0001c0001t0130g0151 a0001c0001t0131g0196 a0001c0001t0132g0249 a0001c0001t0139g0167 a0001c0001t0140g0250 a0001c0001t0142g0159 a0001c0001t0146g0247 a0001c0001t0147g0192 a0001c0001t0148g0237 a0001c0001t0149g0140 a0001c0001t0156g0204 a0001c0001t0158g0241 a0001c0001t0160g0200 a0001c0001t0162g0215 a0001c0001t0167g0105 a0001c0001t0169g0156 a0001c0001t0178g0183 a0001c0001t0180g0245 a0001c0001t0184g0174 a0001c0001t0185g0152 a0001c0001t0202g0160 a0001c0001t0203g0070 a0001c0001t0205g0099 a0001c0001t0207g0048 a0001c0001t0209g0239 a0001c0001t0210g0220 a0001c0001t0212g0256 a0001c0001t0213g0148 a0001c0001t0214g0146 a0001c0001t0215g0172 a0001c0001t0217g0254 a0001c0001t0218g0147 a0001c0001t0233g0214 a0001c0001t0235g0112 a0001c0001t0236g0255 a0001c0001t0242g0187 a0001c0001t0243g0049 a0001c0001t0248g0142 a0001c0001t0250g0257 a0001c0001t0251g0198 a0001c0003t0005g0026 a0001c0003t0005g0066 a0001c0003t0009g0045 a0001c0003t0012g0097 a0001c0003t0012g0128 a0001c0003t0013g0029 a0001c0003t0013g0067 a0001c0003t0013g0073 a0001c0003t0019g0030 a0001c0003t0020g0043 a0001c0003t0020g0074 a0001c0003t0033g0328 a0001c0003t0033g0340 a0001c0003t0035g0041 a0001c0003t0035g0109 a0001c0003t0037g0352 a0001c0003t0037g0355 a0001c0003t0039g0072 a0001c0003t0041g0354 a0001c0003t0041g0359 a0001c0003t0044g0327 a0001c0003t0045g0038 a0001c0003t0046g0303 a0001c0003t0095g0216 a0001c0003t0112g0329 a0001c0003t0114g0019 a0001c0003t0120g0108 a0001c0003t0122g0349 a0001c0003t0124g0330 a0001c0003t0134g0347 a0001c0003t0141g0212 a0001c0003t0143g0075 a0001c0003t0144g0336 a0001c0003t0145g0068 a0001c0003t0157g0338 a0001c0003t0159g0302 a0001c0003t0161g0052 a0001c0003t0165g0050 a0001c0003t0166g0002 a0001c0003t0186g0361 a0001c0003t0198g0027 a0001c0003t0201g0332 a0001c0003t0206g0046 a0001c0003t0211g0331 a0001c0003t0219g0268 a0001c0003t0220g0350 a0001c0003t0221g0036 a0001c0003t0222g0042 a0001c0003t0223g0362 a0001c0003t0228g0065 a0001c0003t0232g0035 a0001c0003t0241g0051 a0001c0003t0244g0053 a0001c0003t0245g0028 a0001c0003t0246g0064 a0001c0005t0003g0083 a0001c0005t0003g0091 a0001c0005t0009g0080 a0001c0005t0009g0087 a0001c0005t0036g0095 a0001c0005t0044g0311 a0001c0005t0048g0082 a0001c0005t0098g0079 a0001c0005t0119g0090 a0001c0005t0138g0086 a0001c0005t0155g0310 a0001c0005t0163g0252 a0001c0005t0171g0084 a0001c0005t0173g0081 a0001c0005t0176g0308 a0001c0005t0177g0307 a0001c0005t0179g0096 a0001c0005t0199g0101 a0001c0005t0216g0094 a0001c0005t0234g0078 a0001c0006t0003g0297 a0001c0006t0004g0284 a0001c0006t0005g0280 a0001c0006t0008g0261 a0001c0006t0008g0269 a0001c0006t0113g0281 a0001c0006t0121g0295 a0001c0006t0136g0005 a0001c0006t0137g0273 a0001c0006t0164g0263 a0001c0006t0170g0293 a0001c0006t0175g0264 a0001c0006t0197g0276 a0001c0006t0200g0229 a0001c0006t0204g0283 a0001c0006t0225g0262 a0001c0006t0227g0278 a0001c0021t0135g0014 a0001c0021t0168g0282 a0001c0023t0150g0008 a0001c0023t0151g0007 a0001c0026t0004g0300 a0001c0029t0019g0207 a0001c0032t0005g0348 a0001c0050t0226g0277 a0004c0015t0034g0314 a0004c0015t0034g0315 a0004c0015t0110g0342 a0004c0015t0239g0333 a0005c0018t0174g0306 a0005c0018t0224g0305 a0006c0031t0009g0110 a0006c0038t0003g0085 a0010c0048t0247g0260 a0011c0025t0014g0032 a0012c0047t0014g0292 a0013c0024t0208g0127	190	364	0.5220	-3	c.165 others(12): Show c.1650_1652delAGG	p.Gly others(6): Show p.Gly551del	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	9/9	1942/5948	1650/1782	550/593	INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID4B_chr1_235161902_235333179	235213963	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp1 HG01109.hp2 HG01884.hp2 others(9): Show HG00621.hp1 HG01109.hp2 HG01884.hp2 HG01981.hp1 HG02109.hp1 HG02280.hp1 HG02602.hp1 HG02886.hp2 HG03130.hp1 HG03209.hp2 HG03540.hp1 NA18906.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0003c0006 a0006c0015 a0003c0005 a0003c0006 a0006c0015	a0003c0005t0001 a0003c0005t0002 a0003c0006t0001 others(1): Show a0003c0005t0001 a0003c0005t0002 a0003c0006t0001 a0006c0015t0001	a0003c0005t0001g0001 a0003c0005t0001g0002 a0003c0005t0001g0003 others(9): Show a0003c0005t0001g0001 a0003c0005t0001g0002 a0003c0005t0001g0003 a0003c0005t0001g0007 a0003c0005t0001g0008 a0003c0005t0001g0052 a0003c0005t0002g0105 a0003c0006t0001g0152 a0003c0006t0001g0153 a0003c0006t0001g0154 a0003c0006t0001g0155 a0006c0015t0001g0114	12	272	0.0441	-3	c.164 others(12): Show c.1644_1646delGGA	p.Glu others(6): Show p.Glu549del	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	17/24	2106/6022	1644/3939	548/1312		chr1	TogoVar
ARK2N_chr18_46169034_46271992	46253735	TCTG TCTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp2 HG00423.hp2 others(104): Show HG00099.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG01070.hp2 HG01081.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01515.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18974.hp2 NA18980.hp2 NA18992.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0017 a0002c0002t0021 others(2): Show a0002c0002t0001 a0002c0002t0017 a0002c0002t0021 a0002c0002t0024 a0002c0002t0030	a0002c0002t0001g0003 a0002c0002t0001g0022 a0002c0002t0001g0051 others(103): Show a0002c0002t0001g0003 a0002c0002t0001g0022 a0002c0002t0001g0051 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0188 a0002c0002t0001g0207 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0017g0208 a0002c0002t0017g0209 a0002c0002t0021g0284 a0002c0002t0024g0045 a0002c0002t0030g0215	107	320	0.3344	-3	c.941 others(10): Show c.941_943delCTG	p.Ala others(6): Show p.Ala314del	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	4/5	1308/5456	941/1215	314/404	INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL9_chr4_56500791_56529453	56506029	AGAG AGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG02055.hp2 HG02109.hp1 others(8): Show HG01243.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG03471.hp2	a0005 a0012 a0005 a0012	a0005c0005 a0012c0017 a0005c0005 a0012c0017	a0005c0005t0001 a0012c0017t0007 a0005c0005t0001 a0012c0017t0007	a0005c0005t0001g0023 a0005c0005t0001g0056 a0005c0005t0001g0057 others(7): Show a0005c0005t0001g0023 a0005c0005t0001g0056 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0001g0060 a0005c0005t0001g0063 a0005c0005t0001g0064 a0005c0005t0001g0065 a0005c0005t0001g0066 a0012c0017t0007g0062	11	416	0.0264	-3	c.170 others(10): Show c.170_172delGGA	p.Arg others(5): Show p.Arg57del	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding	1/4	242/1447	170/798	57/265	INFO_REALIGN_3_PRIME	chr4	TogoVar
ARMCX2_chrX_101650281_101664850	101656879	TCTGCAGC others(11): Show TCTGCAGCCCCAGTAGGTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19000.hp1 NA19000.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0021 a0005c0008t0001g0021	1	335	0.0030	-18	c.692 others(25): Show c.692_709delCACCTACTGGGGCTGCAG	p.Ala others(13): Show p.Ala231_Ala236del	ARMCX2	ENSG00000184867.14	transcript	ENST00000356824.9	protein_coding	6/6	1220/2819	692/1899	231/632		chrX	TogoVar
AR_chrX_67539021_67735619	67545306	TTGC TTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03486.hp1 HG03486.hp1	a0072 a0072	a0072c0033 a0072c0033	a0072c0033t0021 a0072c0033t0021	a0072c0033t0021g0163 a0072c0033t0021g0163	1	193	0.0052	-3	c.170 others(10): Show c.170_172delTGC	p.Leu others(5): Show p.Leu57del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1296/10667	170/2763	57/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	TGCA TGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp1 HG00738.hp1 HG01109.hp1 others(32): Show HG00642.hp1 HG00738.hp1 HG01109.hp1 HG01192.hp1 HG01256.hp1 HG01891.hp2 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02257.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03471.hp1 HG03540.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18961.hp1 NA18970.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA19058.hp1 NA19062.hp1 NA19070.hp1 NA19076.hp1 NA20805.hp1 NA20905.hp1	a0001 a0009 a0013 others(6): Show a0001 a0009 a0013 a0052 a0053 a0054 a0055 a0056 a0057	a0001c0001 a0009c0013 a0009c0025 others(8): Show a0001c0001 a0009c0013 a0009c0025 a0013c0012 a0013c0064 a0052c0059 a0053c0060 a0054c0063 a0055c0065 a0056c0061 a0057c0062	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0024 a0001c0001t0025 a0001c0001t0064 a0009c0013t0004 a0009c0013t0018 a0009c0013t0020 a0009c0025t0004 a0013c0012t0005 a0013c0012t0006 a0013c0012t0048 a0013c0064t0057 a0052c0059t0029 a0053c0060t0039 a0054c0063t0004 a0055c0065t0002 a0056c0061t0010 a0057c0062t0010	a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0064 others(31): Show a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0002g0026 a0001c0001t0002g0042 a0001c0001t0002g0052 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0008g0001 a0001c0001t0008g0035 a0001c0001t0024g0030 a0001c0001t0025g0166 a0001c0001t0064g0013 a0009c0013t0004g0184 a0009c0013t0018g0177 a0009c0013t0020g0173 a0009c0013t0020g0174 a0009c0025t0004g0150 a0009c0025t0004g0164 a0013c0012t0005g0168 a0013c0012t0006g0124 a0013c0012t0006g0128 a0013c0012t0048g0131 a0013c0064t0057g0053 a0052c0059t0029g0134 a0053c0060t0039g0133 a0054c0063t0004g0181 a0055c0065t0002g0099 a0056c0061t0010g0161 a0057c0062t0010g0185	35	193	0.1814	-3	c.237 others(10): Show c.237_239delGCA	p.Gln others(5): Show p.Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1363/10667	237/2763	79/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCA TGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG01074.hp1 HG01106.hp1 others(15): Show HG00280.hp1 HG01074.hp1 HG01106.hp1 HG02615.hp2 HG02735.hp1 HG02818.hp1 HG03209.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp2 NA18906.hp1 NA18906.hp2 NA18977.hp1 NA18984.hp1 NA20129.hp2	a0007 a0008 a0016 others(3): Show a0007 a0008 a0016 a0049 a0050 a0051	a0007c0006 a0008c0005 a0016c0024 others(4): Show a0007c0006 a0008c0005 a0016c0024 a0016c0058 a0049c0055 a0050c0056 a0051c0057	a0007c0006t0001 a0007c0006t0003 a0007c0006t0009 others(14): Show a0007c0006t0001 a0007c0006t0003 a0007c0006t0009 a0007c0006t0026 a0007c0006t0059 a0008c0005t0003 a0008c0005t0006 a0008c0005t0010 a0008c0005t0033 a0008c0005t0044 a0008c0005t0046 a0016c0024t0010 a0016c0024t0011 a0016c0058t0012 a0049c0055t0001 a0050c0056t0021 a0051c0057t0038	a0007c0006t0001g0102 a0007c0006t0003g0068 a0007c0006t0009g0074 others(15): Show a0007c0006t0001g0102 a0007c0006t0003g0068 a0007c0006t0009g0074 a0007c0006t0009g0093 a0007c0006t0026g0094 a0007c0006t0059g0069 a0008c0005t0003g0003 a0008c0005t0006g0118 a0008c0005t0010g0003 a0008c0005t0033g0148 a0008c0005t0044g0121 a0008c0005t0046g0136 a0016c0024t0010g0115 a0016c0024t0011g0004 a0016c0058t0012g0107 a0049c0055t0001g0125 a0050c0056t0021g0162 a0051c0057t0038g0165	18	193	0.0933	-6	c.234 others(13): Show c.234_239delGCAGCA	p.Gln others(11): Show p.Gln79_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1360/10667	234/2763	78/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCAG others(2): Show TGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp1 HG01081.hp2 HG01255.hp1 others(10): Show HG00741.hp1 HG01081.hp2 HG01255.hp1 HG02257.hp2 HG02809.hp1 HG03041.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp2 NA18747.hp1 NA18989.hp1 NA21309.hp2	a0012 a0025 a0026 others(4): Show a0012 a0025 a0026 a0045 a0046 a0047 a0048	a0012c0011 a0012c0052 a0025c0046 others(7): Show a0012c0011 a0012c0052 a0025c0046 a0025c0049 a0026c0047 a0026c0051 a0045c0045 a0046c0050 a0047c0048 a0048c0053	a0012c0011t0005 a0012c0011t0019 a0012c0011t0066 others(9): Show a0012c0011t0005 a0012c0011t0019 a0012c0011t0066 a0012c0052t0003 a0025c0046t0005 a0025c0049t0052 a0026c0047t0007 a0026c0051t0001 a0045c0045t0049 a0046c0050t0023 a0047c0048t0027 a0048c0053t0007	a0012c0011t0005g0122 a0012c0011t0005g0144 a0012c0011t0019g0126 others(10): Show a0012c0011t0005g0122 a0012c0011t0005g0144 a0012c0011t0019g0126 a0012c0011t0066g0117 a0012c0052t0003g0071 a0025c0046t0005g0132 a0025c0049t0052g0009 a0026c0047t0007g0155 a0026c0051t0001g0034 a0045c0045t0049g0137 a0046c0050t0023g0045 a0047c0048t0027g0123 a0048c0053t0007g0171	13	193	0.0674	-9	c.231 others(16): Show c.231_239delGCAGCAGCA	p.Gln others(11): Show p.Gln78_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1357/10667	231/2763	77/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCAG others(5): Show TGCAGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00735.hp2 others(8): Show HG00099.hp1 HG00099.hp2 HG00735.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02630.hp1 HG02922.hp2 HG03486.hp2 NA19004.hp1	a0011 a0024 a0041 others(3): Show a0011 a0024 a0041 a0042 a0043 a0044	a0011c0008 a0024c0023 a0041c0041 others(3): Show a0011c0008 a0024c0023 a0041c0041 a0042c0042 a0043c0043 a0044c0044	a0011c0008t0005 a0011c0008t0010 a0011c0008t0011 others(5): Show a0011c0008t0005 a0011c0008t0010 a0011c0008t0011 a0024c0023t0001 a0041c0041t0045 a0042c0042t0005 a0043c0043t0040 a0044c0044t0007	a0011c0008t0005g0135 a0011c0008t0005g0145 a0011c0008t0005g0158 others(8): Show a0011c0008t0005g0135 a0011c0008t0005g0145 a0011c0008t0005g0158 a0011c0008t0010g0120 a0011c0008t0011g0143 a0024c0023t0001g0072 a0024c0023t0001g0187 a0041c0041t0045g0127 a0042c0042t0005g0129 a0043c0043t0040g0154 a0044c0044t0007g0172	11	193	0.0570	-12	c.228 others(19): Show c.228_239delGCAGCAGCAGCA	p.Gln others(11): Show p.Gln77_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1354/10667	228/2763	76/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCAG others(8): Show TGCAGCAGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp1 HG02896.hp1 HG02965.hp1 others(8): Show HG02647.hp1 HG02896.hp1 HG02965.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03942.hp1 NA19082.hp1 NA19091.hp1	a0006 a0023 a0038 others(2): Show a0006 a0023 a0038 a0039 a0040	a0006c0015 a0006c0016 a0023c0022 others(3): Show a0006c0015 a0006c0016 a0023c0022 a0038c0038 a0039c0040 a0040c0039	a0006c0015t0007 a0006c0016t0002 a0006c0016t0003 others(6): Show a0006c0015t0007 a0006c0016t0002 a0006c0016t0003 a0006c0016t0031 a0023c0022t0028 a0023c0022t0043 a0038c0038t0047 a0039c0040t0001 a0040c0039t0011	a0006c0015t0007g0139 a0006c0015t0007g0140 a0006c0015t0007g0142 others(8): Show a0006c0015t0007g0139 a0006c0015t0007g0140 a0006c0015t0007g0142 a0006c0016t0002g0023 a0006c0016t0003g0050 a0006c0016t0031g0007 a0023c0022t0028g0141 a0023c0022t0043g0138 a0038c0038t0047g0113 a0039c0040t0001g0060 a0040c0039t0011g0157	11	193	0.0570	-15	c.225 others(22): Show c.225_239delGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln76_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1351/10667	225/2763	75/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCAG others(11): Show TGCAGCAGCAGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp1 NA20300.hp2 HG02895.hp1 NA20300.hp2	a0036 a0037 a0036 a0037	a0036c0036 a0037c0037 a0036c0036 a0037c0037	a0036c0036t0004 a0037c0037t0006 a0036c0036t0004 a0037c0037t0006	a0036c0036t0004g0112 a0037c0037t0006g0178 a0036c0036t0004g0112 a0037c0037t0006g0178	2	193	0.0104	-18	c.222 others(25): Show c.222_239delGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln75_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1348/10667	222/2763	74/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCAG others(14): Show TGCAGCAGCAGCAGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02135.hp1 NA18960.hp1 HG02135.hp1 NA18960.hp1	a0034 a0035 a0034 a0035	a0034c0034 a0035c0035 a0034c0034 a0035c0035	a0034c0034t0001 a0035c0035t0003 a0034c0034t0001 a0035c0035t0003	a0034c0034t0001g0002 a0035c0035t0003g0073 a0034c0034t0001g0002 a0035c0035t0003g0073	2	193	0.0104	-21	c.219 others(28): Show c.219_239delGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln74_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1345/10667	219/2763	73/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCAG others(17): Show TGCAGCAGCAGCAGCAGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02886.hp1 HG01891.hp1 HG02886.hp1	a0022 a0022	a0022c0021 a0022c0021	a0022c0021t0015 a0022c0021t0034 a0022c0021t0015 a0022c0021t0034	a0022c0021t0015g0116 a0022c0021t0034g0147 a0022c0021t0015g0116 a0022c0021t0034g0147	2	193	0.0104	-24	c.216 others(31): Show c.216_239delGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln73_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1342/10667	216/2763	72/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67545316	TGCAGCAG others(20): Show TGCAGCAGCAGCAGCAGCAGCAGCAGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0021 a0021	a0021c0020 a0021c0020	a0021c0020t0011 a0021c0020t0011	a0021c0020t0011g0111 a0021c0020t0011g0130 a0021c0020t0011g0111 a0021c0020t0011g0130	2	193	0.0104	-27	c.213 others(34): Show c.213_239delGCAGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(11): Show p.Gln72_Gln80del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	1339/10667	213/2763	71/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	TGGC TGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00673.hp1 HG01891.hp2 HG02040.hp1 others(30): Show HG00673.hp1 HG01891.hp2 HG02040.hp1 HG02109.hp2 HG02258.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp1 NA18960.hp1 NA18971.hp1 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA20752.hp1	a0009 a0010 a0015 others(12): Show a0009 a0010 a0015 a0018 a0032 a0033 a0034 a0037 a0043 a0051 a0052 a0054 a0064 a0070 a0071	a0009c0013 a0009c0025 a0010c0014 others(16): Show a0009c0013 a0009c0025 a0010c0014 a0010c0078 a0010c0079 a0015c0010 a0018c0029 a0018c0066 a0032c0031 a0033c0032 a0034c0034 a0037c0037 a0043c0043 a0051c0057 a0052c0059 a0054c0063 a0064c0074 a0070c0085 a0071c0054	a0009c0013t0004 a0009c0013t0018 a0009c0013t0020 others(25): Show a0009c0013t0004 a0009c0013t0018 a0009c0013t0020 a0009c0025t0004 a0010c0014t0001 a0010c0014t0003 a0010c0014t0013 a0010c0014t0016 a0010c0078t0006 a0010c0079t0006 a0015c0010t0001 a0015c0010t0004 a0015c0010t0014 a0018c0029t0004 a0018c0029t0065 a0018c0066t0004 a0032c0031t0009 a0032c0031t0013 a0033c0032t0013 a0034c0034t0001 a0037c0037t0006 a0043c0043t0040 a0051c0057t0038 a0052c0059t0029 a0054c0063t0004 a0064c0074t0032 a0070c0085t0056 a0071c0054t0018	a0009c0013t0004g0184 a0009c0013t0018g0177 a0009c0013t0020g0173 others(30): Show a0009c0013t0004g0184 a0009c0013t0018g0177 a0009c0013t0020g0173 a0009c0013t0020g0174 a0009c0025t0004g0150 a0009c0025t0004g0164 a0010c0014t0001g0070 a0010c0014t0003g0019 a0010c0014t0013g0085 a0010c0014t0016g0016 a0010c0078t0006g0183 a0010c0079t0006g0119 a0015c0010t0001g0002 a0015c0010t0001g0104 a0015c0010t0004g0175 a0015c0010t0004g0176 a0015c0010t0014g0006 a0018c0029t0004g0182 a0018c0029t0065g0186 a0018c0066t0004g0149 a0032c0031t0009g0049 a0032c0031t0013g0105 a0033c0032t0013g0062 a0033c0032t0013g0089 a0034c0034t0001g0002 a0037c0037t0006g0178 a0043c0043t0040g0154 a0051c0057t0038g0165 a0052c0059t0029g0134 a0054c0063t0004g0181 a0064c0074t0032g0180 a0070c0085t0056g0082 a0071c0054t0018g0153	33	193	0.1710	-3	c.141 others(12): Show c.1418_1420delGCG	p.Gly others(6): Show p.Gly473del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2544/10667	1418/2763	473/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	TGGCGGC TGGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG02451.hp2 HG02615.hp1 others(8): Show HG00735.hp2 HG02451.hp2 HG02615.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02922.hp1 HG03209.hp1 HG03486.hp1 HG06807.hp1 NA20300.hp2	a0017 a0036 a0038 others(6): Show a0017 a0036 a0038 a0042 a0050 a0053 a0063 a0068 a0072	a0017c0017 a0036c0036 a0038c0038 others(6): Show a0017c0017 a0036c0036 a0038c0038 a0042c0042 a0050c0056 a0053c0060 a0063c0073 a0068c0083 a0072c0033	a0017c0017t0006 a0017c0017t0019 a0017c0017t0035 others(8): Show a0017c0017t0006 a0017c0017t0019 a0017c0017t0035 a0036c0036t0004 a0038c0038t0047 a0042c0042t0005 a0050c0056t0021 a0053c0060t0039 a0063c0073t0067 a0068c0083t0037 a0072c0033t0021	a0017c0017t0006g0151 a0017c0017t0019g0160 a0017c0017t0035g0159 others(8): Show a0017c0017t0006g0151 a0017c0017t0019g0160 a0017c0017t0035g0159 a0036c0036t0004g0112 a0038c0038t0047g0113 a0042c0042t0005g0129 a0050c0056t0021g0162 a0053c0060t0039g0133 a0063c0073t0067g0169 a0068c0083t0037g0152 a0072c0033t0021g0163	11	193	0.0570	-6	c.141 others(15): Show c.1415_1420delGCGGCG	p.Gly others(13): Show p.Gly472_Gly473del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2541/10667	1415/2763	472/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	TGGCGGCG others(2): Show TGGCGGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG02451.hp1 HG02486.hp1 others(5): Show HG01243.hp1 HG02451.hp1 HG02486.hp1 HG02809.hp1 HG03041.hp2 NA18967.hp1 NA18995.hp1 NA19079.hp1	a0025 a0029 a0030 others(2): Show a0025 a0029 a0030 a0041 a0069	a0025c0046 a0025c0049 a0029c0026 others(3): Show a0025c0046 a0025c0049 a0029c0026 a0030c0030 a0041c0041 a0069c0084	a0025c0046t0005 a0025c0049t0052 a0029c0026t0041 others(5): Show a0025c0046t0005 a0025c0049t0052 a0029c0026t0041 a0029c0026t0042 a0030c0030t0001 a0030c0030t0058 a0041c0041t0045 a0069c0084t0022	a0025c0046t0005g0132 a0025c0049t0052g0009 a0029c0026t0041g0146 others(5): Show a0025c0046t0005g0132 a0025c0049t0052g0009 a0029c0026t0041g0146 a0029c0026t0042g0114 a0030c0030t0001g0044 a0030c0030t0058g0084 a0041c0041t0045g0127 a0069c0084t0022g0065	8	193	0.0415	-9	c.141 others(18): Show c.1412_1420delGCGGCGGCG	p.Gly others(13): Show p.Gly471_Gly473del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2538/10667	1412/2763	471/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	TGGCGGCG others(5): Show TGGCGGCGGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01358.hp1 HG01433.hp1 NA18953.hp1 others(2): Show HG01358.hp1 HG01433.hp1 NA18953.hp1 NA19012.hp1 NA19083.hp1	a0028 a0058 a0062 others(1): Show a0028 a0058 a0062 a0067	a0028c0028 a0058c0069 a0062c0072 others(1): Show a0028c0028 a0058c0069 a0062c0072 a0067c0081	a0028c0028t0008 a0058c0069t0002 a0062c0072t0054 others(1): Show a0028c0028t0008 a0058c0069t0002 a0062c0072t0054 a0067c0081t0001	a0028c0028t0008g0011 a0028c0028t0008g0012 a0058c0069t0002g0033 others(2): Show a0028c0028t0008g0011 a0028c0028t0008g0012 a0058c0069t0002g0033 a0062c0072t0054g0055 a0067c0081t0001g0024	5	193	0.0259	-12	c.140 others(21): Show c.1409_1420delGCGGCGGCGGCG	p.Gly others(13): Show p.Gly470_Gly473del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2535/10667	1409/2763	470/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	TGGCGGCG others(8): Show TGGCGGCGGCGGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 NA19085.hp1 NA19088.hp1 others(1): Show HG00280.hp1 NA19085.hp1 NA19088.hp1 NA20129.hp1	a0027 a0049 a0061 a0027 a0049 a0061	a0027c0027 a0049c0055 a0061c0071 a0027c0027 a0049c0055 a0061c0071	a0027c0027t0014 a0027c0027t0051 a0049c0055t0001 others(1): Show a0027c0027t0014 a0027c0027t0051 a0049c0055t0001 a0061c0071t0055	a0027c0027t0014g0087 a0027c0027t0051g0179 a0049c0055t0001g0125 others(1): Show a0027c0027t0014g0087 a0027c0027t0051g0179 a0049c0055t0001g0125 a0061c0071t0055g0086	4	193	0.0207	-15	c.140 others(24): Show c.1406_1420delGCGGCGGCGGCGGCG	p.Gly others(13): Show p.Gly469_Gly473del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2532/10667	1406/2763	469/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	TGGCGGCG others(11): Show TGGCGGCGGCGGCGGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03704.hp2 HG03704.hp2	a0046 a0046	a0046c0050 a0046c0050	a0046c0050t0023 a0046c0050t0023	a0046c0050t0023g0045 a0046c0050t0023g0045	1	193	0.0052	-18	c.140 others(27): Show c.1403_1420delGCGGCGGCGGCGGCGGCG	p.Gly others(13): Show p.Gly468_Gly473del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2529/10667	1403/2763	468/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67546514	TGGCGGCG others(23): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp1 HG01255.hp1	a0045 a0045	a0045c0045 a0045c0045	a0045c0045t0049 a0045c0045t0049	a0045c0045t0049g0137 a0045c0045t0049g0137	1	193	0.0052	-30	c.139 others(39): Show c.1391_1420delGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	p.Gly others(13): Show p.Gly464_Gly473del	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	1/8	2517/10667	1391/2763	464/920	INFO_REALIGN_3_PRIME	chrX	TogoVar
ASCL1_chr12_102952674_102965513	102958340	TGCCACGG others(26): Show TGCCACGGCCGCAGCCGCGGCGGCCGCAGCCGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03688.hp1 HG03688.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0001 a0009c0015t0001g0001	1	354	0.0028	-33	c.99_ others(39): Show c.99_131delCACGGCCGCAGCCGCGGCGGCCGCAGCCGCCGC	p.Thr others(11): Show p.Thr34_Ala44del	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	670/2481	99/711	33/236	INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC3_chr7_151043531_151057754	151050846	CCCCCAG CCCCCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 NA18948.hp2 NA18953.hp2 others(4): Show HG00438.hp1 NA18948.hp2 NA18953.hp2 NA19004.hp1 NA19009.hp1 NA19076.hp2 NA19086.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0004 a0002c0004t0001g0004	7	418	0.0168	-6	c.918 others(13): Show c.918_923delCAGCCC	p.Ser others(13): Show p.Ser307_Pro308del	ASIC3	ENSG00000213199.8	transcript	ENST00000349064.10	protein_coding	4/11	1273/2053	918/1596	306/531	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASPHD2_chr22_26424260_26450015	26434157	GGGACGCA others(5): Show GGGACGCACAGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19089.hp1 NA19089.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0182 a0003c0009t0002g0182	1	428	0.0023	-12	c.543 others(19): Show c.543_554delGGACGCACAGAA	p.Asp others(13): Show p.Asp182_Lys185del	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/4	994/3370	543/1110	181/369		chr22	TogoVar
ASPSCR1_chr17_81972629_82022406	82009034	CAGCCCGT others(8): Show CAGCCCGTGGACCGGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG02723.hp1 HG02896.hp2 others(4): Show HG02055.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp2 NA18970.hp2 NA18975.hp1 NA18983.hp2	a0005 a0007 a0005 a0007	a0005c0009 a0005c0020 a0007c0016 a0005c0009 a0005c0020 a0007c0016	a0005c0009t0001 a0005c0020t0001 a0007c0016t0001 a0005c0009t0001 a0005c0020t0001 a0007c0016t0001	a0005c0009t0001g0032 a0005c0009t0001g0152 a0005c0009t0001g0245 others(3): Show a0005c0009t0001g0032 a0005c0009t0001g0152 a0005c0009t0001g0245 a0005c0020t0001g0069 a0007c0016t0001g0231 a0007c0016t0001g0232	7	366	0.0191	-15	c.951 others(22): Show c.951_965delCGTGGACCGGGAGCC	p.Val others(13): Show p.Val318_Pro322del	ASPSCR1	ENSG00000169696.16	transcript	ENST00000306739.9	protein_coding	8/16	969/1764	951/1662	317/553	INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD2_chr8_123314850_123401447	123369906	ATCTTCAT others(5): Show ATCTTCATCATCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp2 HG01192.hp1 HG01168.hp2 HG01192.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0133 a0005c0010t0001g0135 a0005c0010t0001g0133 a0005c0010t0001g0135	2	278	0.0072	-12	c.834 others(19): Show c.834_845delAGATGATGAAGA	p.Glu others(13): Show p.Glu278_Glu281del	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	7/28	935/5547	834/4173	278/1390		chr8	TogoVar
ATAD2_chr8_123314850_123401447	123369918	TTCATCA TTCATCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp1 HG02809.hp2 HG03688.hp2 others(1): Show HG00597.hp1 HG02809.hp2 HG03688.hp2 NA18968.hp1	a0004 a0004	a0004c0007 a0004c0014 a0004c0007 a0004c0014	a0004c0007t0001 a0004c0014t0001 a0004c0007t0001 a0004c0014t0001	a0004c0007t0001g0109 a0004c0007t0001g0201 a0004c0007t0001g0208 others(1): Show a0004c0007t0001g0109 a0004c0007t0001g0201 a0004c0007t0001g0208 a0004c0014t0001g0159	4	278	0.0144	-6	c.828 others(13): Show c.828_833delTGATGA	p.Asp others(13): Show p.Asp276_Asp277del	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	7/28	923/5547	828/4173	276/1390		chr8	TogoVar
ATAD5_chr17_30826966_30900869	30834937	ACAATGT ACAATGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00544.hp2 HG00639.hp1 HG00642.hp2 others(61): Show HG00544.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01081.hp1 HG01346.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18968.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0012 a0002c0019 a0002c0002 a0002c0012 a0002c0019	a0002c0002t0002 a0002c0002t0009 a0002c0002t0019 others(2): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0019 a0002c0012t0002 a0002c0019t0013	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 others(59): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0009g0031 a0002c0002t0009g0061 a0002c0002t0019g0035 a0002c0012t0002g0012 a0002c0019t0013g0065	64	286	0.2238	-6	c.861 others(13): Show c.861_866delGTCAAT	p.Met others(13): Show p.Met287_Ser288del	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	2/23	1243/6873	861/5535	287/1844	INFO_REALIGN_3_PRIME	chr17	TogoVar
ATF7IP2_chr16_10381061_10488638	10430799	GGAC GGAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(189): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0006 a0007 a0008 a0009	a0002c0001 a0002c0008 a0002c0010 others(8): Show a0002c0001 a0002c0008 a0002c0010 a0002c0019 a0003c0004 a0003c0011 a0005c0009 a0006c0022 a0007c0018 a0008c0020 a0009c0021	a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 others(14): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 a0002c0001t0012 a0002c0001t0014 a0002c0001t0024 a0002c0008t0010 a0002c0010t0002 a0002c0019t0001 a0003c0004t0002 a0003c0004t0023 a0003c0011t0002 a0005c0009t0002 a0006c0022t0002 a0007c0018t0010 a0008c0020t0002 a0009c0021t0002	a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0007 others(186): Show a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0014 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0024 a0002c0001t0001g0039 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0042 a0002c0001t0001g0043 a0002c0001t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0059 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0075 a0002c0001t0001g0086 a0002c0001t0001g0089 a0002c0001t0001g0092 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0122 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0133 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0147 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0170 a0002c0001t0001g0173 a0002c0001t0001g0175 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0185 a0002c0001t0001g0186 a0002c0001t0001g0188 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0366 a0002c0001t0002g0015 a0002c0001t0002g0036 a0002c0001t0002g0044 a0002c0001t0002g0045 a0002c0001t0002g0058 a0002c0001t0002g0088 a0002c0001t0002g0091 a0002c0001t0002g0093 a0002c0001t0002g0094 a0002c0001t0002g0095 a0002c0001t0002g0096 a0002c0001t0002g0103 a0002c0001t0002g0107 a0002c0001t0002g0111 a0002c0001t0002g0112 a0002c0001t0002g0114 a0002c0001t0002g0115 a0002c0001t0002g0116 a0002c0001t0002g0131 a0002c0001t0002g0132 a0002c0001t0002g0140 a0002c0001t0002g0141 a0002c0001t0002g0142 a0002c0001t0002g0146 a0002c0001t0002g0148 a0002c0001t0002g0150 a0002c0001t0002g0153 a0002c0001t0002g0155 a0002c0001t0002g0164 a0002c0001t0002g0165 a0002c0001t0002g0166 a0002c0001t0002g0190 a0002c0001t0009g0169 a0002c0001t0009g0171 a0002c0001t0009g0172 a0002c0001t0009g0174 a0002c0001t0009g0176 a0002c0001t0012g0090 a0002c0001t0012g0097 a0002c0001t0012g0123 a0002c0001t0014g0073 a0002c0001t0014g0074 a0002c0001t0024g0177 a0002c0008t0010g0031 a0002c0008t0010g0032 a0002c0008t0010g0033 a0002c0008t0010g0034 a0002c0010t0002g0145 a0002c0010t0002g0154 a0002c0010t0002g0264 a0002c0019t0001g0187 a0003c0004t0002g0003 a0003c0004t0002g0025 a0003c0004t0002g0070 a0003c0004t0002g0071 a0003c0004t0002g0072 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0084 a0003c0004t0002g0085 a0003c0004t0002g0087 a0003c0004t0002g0113 a0003c0004t0002g0121 a0003c0004t0002g0126 a0003c0004t0002g0134 a0003c0004t0002g0137 a0003c0004t0002g0149 a0003c0004t0002g0156 a0003c0004t0002g0157 a0003c0004t0002g0158 a0003c0004t0002g0160 a0003c0004t0002g0162 a0003c0004t0002g0163 a0003c0004t0002g0194 a0003c0004t0002g0196 a0003c0004t0002g0197 a0003c0004t0002g0365 a0003c0004t0023g0127 a0003c0011t0002g0159 a0003c0011t0002g0161 a0005c0009t0002g0067 a0005c0009t0002g0068 a0005c0009t0002g0069 a0006c0022t0002g0083 a0007c0018t0010g0035 a0008c0020t0002g0006 a0009c0021t0002g0189	192	376	0.5106	-3	c.183 others(10): Show c.183_185delGAC	p.Thr others(5): Show p.Thr62del	ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	5/14	486/3741	183/2049	61/682	INFO_REALIGN_3_PRIME	chr16	TogoVar
ATF7IP_chr12_14360682_14507930	14424423	GCCTCTGG others(8): Show GCCTCTGGTGATGCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19002.hp1 NA19002.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0313 a0011c0019t0001g0313	1	346	0.0029	-15	c.522 others(22): Show c.522_536delAACCTCTGGTGATGC	p.Thr others(13): Show p.Thr175_Ala179del	ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	2/15	675/8823	522/3813	174/1270	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATMIN_chr16_81030842_81052350	81035884	AGGC AGGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG02257.hp1 HG02523.hp1 others(9): Show HG01109.hp2 HG02257.hp1 HG02523.hp1 HG02976.hp1 NA18906.hp1 NA18948.hp1 NA18949.hp1 NA18965.hp1 NA18977.hp1 NA18987.hp1 NA19091.hp1 NA20129.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0008 a0004c0005t0005 a0004c0005t0008	a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0008g0006 others(1): Show a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0008g0006 a0004c0005t0008g0007	12	392	0.0306	-3	c.29_ others(8): Show c.29_31delCGG	p.Ala others(5): Show p.Ala10del	ATMIN	ENSG00000166454.10	transcript	ENST00000299575.5	protein_coding	1/4	58/4881	29/2472	10/823	INFO_REALIGN_3_PRIME	chr16	TogoVar
ATN1_chr12_6922959_6947321	6936716	CCAGCAA CCAGCAA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp1 HG01433.hp1 HG01891.hp1 others(16): Show HG00741.hp1 HG01433.hp1 HG01891.hp1 HG01943.hp1 HG02135.hp1 HG02258.hp1 HG02300.hp1 HG02559.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 NA18747.hp1 NA18985.hp2 NA18999.hp1 NA21309.hp1	a0003 a0003	a0003c0013 a0003c0015 a0003c0013 a0003c0015	a0003c0013t0001 a0003c0013t0005 a0003c0015t0001 a0003c0013t0001 a0003c0013t0005 a0003c0015t0001	a0003c0013t0001g0012 a0003c0013t0001g0027 a0003c0013t0001g0031 others(10): Show a0003c0013t0001g0012 a0003c0013t0001g0027 a0003c0013t0001g0031 a0003c0013t0001g0038 a0003c0013t0001g0069 a0003c0013t0001g0092 a0003c0013t0001g0109 a0003c0013t0001g0111 a0003c0013t0005g0075 a0003c0015t0001g0012 a0003c0015t0001g0027 a0003c0015t0001g0038 a0003c0015t0001g0087	19	414	0.0459	-6	c.146 others(15): Show c.1461_1466delACAGCA	p.Gln others(13): Show p.Gln488_Gln489del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2049/4702	1461/3573	487/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar
ATN1_chr12_6922959_6947321	6936725	GCAA GCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01993.hp1 HG02145.hp1 HG03098.hp1 others(2): Show HG01993.hp1 HG02145.hp1 HG03098.hp1 NA19043.hp1 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0029 a0008c0019 a0008c0029	a0008c0019t0001 a0008c0019t0010 a0008c0029t0001 a0008c0019t0001 a0008c0019t0010 a0008c0029t0001	a0008c0019t0001g0025 a0008c0019t0001g0085 a0008c0019t0010g0051 others(1): Show a0008c0019t0001g0025 a0008c0019t0001g0085 a0008c0019t0010g0051 a0008c0029t0001g0012	5	414	0.0121	-3	c.146 others(12): Show c.1461_1463delACA	p.Gln others(6): Show p.Gln488del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2049/4702	1461/3573	487/1190	INFO_REALIGN_3_PRIME	chr12	TogoVar

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