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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARHGEF38_chr4_105547620_105685914	105561396	AGAATAAT others(21): Show AGAATAATAGAATAGAATAGAATAGAATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG01517.hp1 others(12): Show HG00438.hp1 HG01106.hp1 HG01517.hp1 HG02004.hp2 HG02717.hp1 HG02818.hp1 HG02965.hp1 HG03130.hp2 HG03579.hp2 NA18522.hp2 NA19007.hp1 NA19081.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0011	a0001c0002 a0001c0003 a0001c0009 others(4): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0003c0005 a0009c0021 a0011c0015	a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0003t0003 a0001c0009t0008 a0002c0001t0001 a0003c0005t0004 a0009c0021t0001 a0011c0015t0021	a0001c0002t0001g0080 a0001c0002t0003g0099 a0001c0003t0002g0011 others(12): Show a0001c0002t0001g0080 a0001c0002t0003g0099 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0003g0020 a0001c0009t0008g0045 a0002c0001t0001g0044 a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0126 a0003c0005t0004g0137 a0009c0021t0001g0023 a0011c0015t0021g0013	15	186	0.0807	-28	c.196 others(45): Show c.196+8441_196+8468delATAGAATAGAATAGAATAGAATGGAATA	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF40_chr14_21065304_21095248	21080199	GACACACA others(21): Show GACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02523.hp2 HG03704.hp1 others(5): Show HG02074.hp2 HG02523.hp2 HG03704.hp1 HG04204.hp1 HG04228.hp2 NA18963.hp2 NA18968.hp1 NA19057.hp1	a0005 a0005	a0005c0006 a0005c0029 a0005c0006 a0005c0029	a0005c0006t0001 a0005c0029t0001 a0005c0006t0001 a0005c0029t0001	a0005c0006t0001g0013 a0005c0006t0001g0035 a0005c0029t0001g0088 a0005c0006t0001g0013 a0005c0006t0001g0035 a0005c0029t0001g0088	8	386	0.0207	-28	c.237 others(45): Show c.2374-438_2374-411delACACACACACACACACACACACACACAC	ARHGEF40	ENSG00000165801.10	transcript	ENST00000298694.9	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
ARHGEF4_chr2_130831914_131052253	131043713	GGGCTGGG others(21): Show GGGCTGGGATGGGGTGGCTCTCTGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp2 HG01515.hp2 others(29): Show HG00642.hp1 HG01243.hp2 HG01515.hp2 HG01975.hp1 HG02080.hp2 HG02155.hp1 HG02257.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02723.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 NA18612.hp2 NA18957.hp2 NA18970.hp2 NA18971.hp1 NA18981.hp2 NA18999.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0017	a0001c0002 a0001c0026 a0001c0045 others(13): Show a0001c0002 a0001c0026 a0001c0045 a0002c0040 a0002c0041 a0002c0042 a0002c0048 a0003c0031 a0004c0020 a0005c0008 a0006c0050 a0007c0032 a0008c0053 a0009c0021 a0011c0049 a0017c0051	a0001c0002t0001 a0001c0026t0001 a0001c0045t0001 others(13): Show a0001c0002t0001 a0001c0026t0001 a0001c0045t0001 a0002c0040t0001 a0002c0041t0001 a0002c0042t0001 a0002c0048t0001 a0003c0031t0006 a0004c0020t0001 a0005c0008t0001 a0006c0050t0001 a0007c0032t0001 a0008c0053t0001 a0009c0021t0001 a0011c0049t0001 a0017c0051t0006	a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0020 others(29): Show a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0074 a0001c0002t0001g0083 a0001c0002t0001g0113 a0001c0026t0001g0080 a0001c0045t0001g0085 a0002c0040t0001g0044 a0002c0041t0001g0053 a0002c0042t0001g0064 a0002c0048t0001g0070 a0003c0031t0006g0037 a0004c0020t0001g0016 a0004c0020t0001g0028 a0005c0008t0001g0007 a0005c0008t0001g0097 a0005c0008t0001g0098 a0005c0008t0001g0101 a0006c0050t0001g0142 a0007c0032t0001g0004 a0008c0053t0001g0055 a0009c0021t0001g0130 a0009c0021t0001g0139 a0011c0049t0001g0056 a0017c0051t0006g0069	32	144	0.2222	-28	c.515 others(45): Show c.5157+132_5157+159delGCTGGGATGGGGTGGCTCTCTGCAGGTG	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF6_chrX_136660550_136785932	136686697	CATATATA others(21): Show CATATATATATACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	247	0.0041	-28	c.124 others(45): Show c.1246-902_1246-875delATATATATATATATATGTATATATATAT	ARHGEF6	ENSG00000129675.16	transcript	ENST00000250617.7	protein_coding	11/21			chrX	TogoVar
ARHGEF7_chr13_111110310_111310732	111133763	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA20300.hp2 HG02818.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0093 a0001c0001t0008g0015 a0001c0001t0001g0093 a0001c0001t0008g0015	2	274	0.0073	-28	c.165 others(47): Show c.165+18096_165+18123delATATATATATATATATATATATATAT AT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111221138	CATATATA others(21): Show CATATATATATAGATATATATGTCTATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0117 a0001c0005t0020g0117	1	274	0.0037	-28	c.670 others(45): Show c.670+3263_670+3290delATATATAGATATATATGTCTATATATAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111221143	ATATATAG others(21): Show ATATATAGATATATATGTCTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp1 NA18955.hp1 others(2): Show HG01167.hp2 HG02647.hp1 NA18955.hp1 NA18974.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0034	a0001c0001t0002g0078 a0001c0001t0004g0065 a0001c0001t0004g0086 others(2): Show a0001c0001t0002g0078 a0001c0001t0004g0065 a0001c0001t0004g0086 a0001c0001t0006g0246 a0001c0001t0034g0061	5	274	0.0183	-28	c.670 others(45): Show c.670+3410_670+3437delGATATATATGTCTATATATATCTATATA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111221505	ATATATAT others(21): Show ATATATATAGATATATATCTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02004.hp1 HG03239.hp1 others(1): Show HG01952.hp1 HG02004.hp1 HG03239.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0173 a0001c0001t0001g0200 a0001c0001t0001g0205 others(1): Show a0001c0001t0001g0173 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0003g0184	4	274	0.0146	-28	c.670 others(45): Show c.670+3638_670+3665delTATATCTATATATATCTATATATAGATA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111221574	CATATCTA others(21): Show CATATCTATATATATCTATATATAGATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01192.hp1 others(3): Show HG00741.hp1 HG01109.hp1 HG01192.hp1 HG02886.hp1 HG02895.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0014 a0001c0001 a0001c0006 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0001c0006t0012 a0001c0014t0001	a0001c0001t0001g0144 a0001c0001t0002g0011 a0001c0001t0008g0017 others(3): Show a0001c0001t0001g0144 a0001c0001t0002g0011 a0001c0001t0008g0017 a0001c0001t0016g0012 a0001c0006t0012g0121 a0001c0014t0001g0058	6	274	0.0219	-28	c.670 others(45): Show c.670+3701_670+3728delATATATATCTATATATAGATATATATCT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARID1B_chr6_156772378_157215779	156934912	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02965.hp1 HG02074.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0040 a0001c0002t0003g0080 a0001c0002t0001g0040 a0001c0002t0003g0080	2	150	0.0133	-28	c.213 others(45): Show c.2137-531_2137-504delTATATATATATATATATATATATATATA	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID2_chr12_45724706_45913037	45899649	TTGGTTAT others(21): Show TTGGTTATATATATATATATGGTTATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0019 a0001c0011t0019	a0001c0011t0019g0272 a0001c0011t0019g0272	1	318	0.0031	-28	c.536 others(47): Show c.5364-5269_5364-5242delATATGGTTATATATGGTTATATATAT AT	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARK2C_chr18_46329018_46468140	46397499	TGTGTGTG others(21): Show TGTGTGTGGTCATGCTGAGGTGTGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp2 HG06807.hp1 HG02258.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0025 a0001c0001t0032 a0001c0001t0007 a0001c0001t0025 a0001c0001t0032	a0001c0001t0007g0064 a0001c0001t0025g0030 a0001c0001t0032g0218 a0001c0001t0007g0064 a0001c0001t0025g0030 a0001c0001t0032g0218	3	260	0.0115	-28	c.62- others(45): Show c.62-35683_62-35656delGTCATGCTGAGGTGTGAGGTGGTGTGTG	ARK2C	ENSG00000141622.14	transcript	ENST00000269439.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL15_chr5_53878942_54315573	54221825	GCACACAC others(21): Show GCACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	206	0.0049	-28	c.49- others(45): Show c.49-49925_49-49898delTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding	1/4			chr5	TogoVar
ARL17A_chr17_46547756_46584691	46572970	AAAGGGAG others(21): Show AAAGGGAGGGAGGGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(81): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG04204.hp1 HG04204.hp2 NA18944.hp2 NA18949.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18978.hp1 NA18985.hp1 NA18992.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19065.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0002t0004 a0001c0002t0040 a0002c0003t0005 a0002c0003t0035 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0072 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0011g0081 a0001c0001t0011g0095 a0001c0001t0011g0096 a0001c0001t0013g0012 a0001c0001t0013g0108 a0001c0001t0025g0079 a0001c0001t0026g0092 a0001c0001t0027g0084 a0001c0001t0028g0086 a0001c0001t0029g0077 a0001c0001t0030g0101 a0001c0001t0034g0074 a0001c0001t0036g0085 a0001c0001t0037g0110 a0001c0001t0038g0115 a0001c0001t0039g0116 a0001c0002t0004g0004 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0004g0099 a0001c0002t0004g0100 a0001c0002t0040g0117 a0002c0003t0005g0009 a0002c0003t0005g0069 a0002c0003t0005g0070 a0002c0003t0005g0071 a0002c0003t0005g0102 a0002c0003t0005g0103 a0002c0003t0035g0068 a0003c0004t0001g0010 a0004c0005t0001g0090	84	146	0.5753	-28	c.149 others(45): Show c.149-2129_149-2102delCCTCCCTCCCTCCCTCCCTCCCTCCCTT	ARL17A	ENSG00000185829.19	transcript	ENST00000336125.6	protein_coding	2/3			chr17	TogoVar
ARL1_chr12_101388116_101412772	101403242	AAAAGCCA others(21): Show AAAAGCCAGCAGTTCTGCAAATAAAGTAT	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	398	0.0025	-28	c.143 others(43): Show c.143-324_143-297delATACTTTATTTGCAGAACTGCTGGCTTT	ARL1	ENSG00000120805.14	transcript	ENST00000261636.13	protein_coding	2/5			chr12	TogoVar
ARL9_chr4_56500791_56529453	56502468	TATATATA others(21): Show TATATATATATATATGTATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(63): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01109.hp2 HG01243.hp1 HG01516.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp2 HG03834.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18967.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18992.hp2 NA18998.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0012	a0001c0001 a0004c0004 a0005c0005 others(2): Show a0001c0001 a0004c0004 a0005c0005 a0008c0018 a0012c0017	a0001c0001t0001 a0004c0004t0001 a0004c0004t0009 others(3): Show a0001c0001t0001 a0004c0004t0001 a0004c0004t0009 a0005c0005t0001 a0008c0018t0001 a0012c0017t0007	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0061 others(47): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0061 a0004c0004t0001g0003 a0004c0004t0001g0011 a0004c0004t0001g0025 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0070 a0004c0004t0001g0071 a0004c0004t0001g0072 a0004c0004t0001g0074 a0004c0004t0001g0075 a0004c0004t0001g0076 a0004c0004t0001g0077 a0004c0004t0001g0078 a0004c0004t0001g0079 a0004c0004t0001g0080 a0004c0004t0001g0081 a0004c0004t0001g0082 a0004c0004t0001g0083 a0004c0004t0001g0084 a0004c0004t0001g0085 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0097 a0004c0004t0009g0073 a0005c0005t0001g0023 a0005c0005t0001g0056 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0001g0060 a0005c0005t0001g0063 a0005c0005t0001g0064 a0005c0005t0001g0065 a0005c0005t0001g0066 a0008c0018t0001g0059 a0012c0017t0007g0062	66	416	0.1587	-28	c.-33 others(39): Show c.-3394_-3367delATATATATATATATGTATATATATATAC	ARL9	ENSG00000196503.5	transcript	ENST00000640821.3	protein_coding		3322		chr4	TogoVar
ARMC8_chr3_138182301_138303373	138229134	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	246	0.0041	-28	c.528 others(43): Show c.528+146_528+173delATATATATATATATATATATATATATAT	ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMC9_chr2_231193631_231381848	231372699	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0116 a0001c0001t0053g0116	1	200	0.0050	-28	c.11 others(39): Show c.1193_*1220delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	25/25	1193	INFO_REALIGN_3_PRIME	chr2	TogoVar
ARMC9_chr2_231193631_231381848	231372731	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTATGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01346.hp2 HG01081.hp1 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0060 a0001c0015t0059 a0001c0002t0060 a0001c0015t0059	a0001c0002t0060g0096 a0001c0015t0059g0104 a0001c0002t0060g0096 a0001c0015t0059g0104	2	200	0.0100	-28	c.12 others(39): Show c.1201_*1228delGTGTGTGTGTGTGTGTGTGTATGAGTGT	ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	25/25	1201	INFO_REALIGN_3_PRIME	chr2	TogoVar
ARMH3_chr10_101840599_102061173	101944259	TATATATA others(21): Show TATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA20300.hp2 HG01993.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0031 a0001c0001t0001g0032	2	262	0.0076	-28	c.170 others(47): Show c.1706-4349_1706-4322delCTCTCTCTCTCTCTATATATATATAT AT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25			chr10	TogoVar
ARMH3_chr10_101840599_102061173	101944261	TATATATA others(21): Show TATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01346.hp2 others(2): Show HG01168.hp2 HG01169.hp2 HG01346.hp2 HG02809.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0073	5	262	0.0191	-28	c.170 others(47): Show c.1706-4351_1706-4324delCTCTCTCTCTCTCTCTATATATATAT AT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25			chr10	TogoVar
ARMH3_chr10_101840599_102061173	101944263	TATATATA others(21): Show TATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG01258.hp1 others(13): Show HG00738.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG01517.hp1 HG02129.hp1 HG02280.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03834.hp2 NA18954.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0001 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0011g0059 a0001c0001t0013g0036	16	262	0.0611	-28	c.170 others(47): Show c.1706-4353_1706-4326delCTCTCTCTCTCTCTCTCTATATATAT AT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25			chr10	TogoVar
ARMH3_chr10_101840599_102061173	101944265	TATATATA others(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02155.hp2 HG02698.hp1 others(6): Show HG01255.hp1 HG02155.hp2 HG02698.hp1 HG02717.hp1 NA18942.hp2 NA18960.hp2 NA18971.hp2 NA19062.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0040 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0115	9	262	0.0344	-28	c.170 others(47): Show c.1706-4355_1706-4328delCTCTCTCTCTCTCTCTCTCTATATAT AT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25			chr10	TogoVar
ARMH3_chr10_101840599_102061173	101944267	TATATATA others(21): Show TATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18979.hp1 NA18964.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0084 a0001c0001t0001g0029 a0001c0001t0001g0084	2	262	0.0076	-28	c.170 others(47): Show c.1706-4357_1706-4330delCTCTCTCTCTCTCTCTCTCTCTATAT AT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25			chr10	TogoVar
ARMH3_chr10_101840599_102061173	101944269	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18956.hp1 NA18941.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0122 a0001c0001t0001g0087 a0001c0001t0001g0122	2	262	0.0076	-28	c.170 others(47): Show c.1706-4359_1706-4332delCTCTCTCTCTCTCTCTCTCTCTCTAT AT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25			chr10	TogoVar
ARRDC1_chr9_137600686_137620360	137601209	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01515.hp2 HG01517.hp2 others(1): Show HG01175.hp1 HG01515.hp2 HG01517.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0087 a0001c0001t0001g0001 a0001c0001t0002g0087	4	338	0.0118	-28	c.-45 others(39): Show c.-4508_-4481delTATATATATATATATATATATATATATA	ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding		4476		chr9	TogoVar
ARSA_chr22_50617754_50633152	50621123	CATCCGGC others(21): Show CATCCGGCTCAAACAGCTAACTGGTGAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	460	0.0022	-28	c.39 others(39): Show c.3994_*4021delTTTCACCAGTTAGCTGTTTGAGCCGGAT	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		1630		chr22	TogoVar
ARSB_chr5_78772209_78990310	78834607	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG02717.hp1 others(11): Show HG00741.hp1 HG01243.hp1 HG02717.hp1 HG02809.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0004 a0001c0001 a0001c0007 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0031 a0001c0001t0043 a0001c0001t0044 a0001c0007t0004 a0001c0007t0068 a0003c0004t0003 a0003c0004t0029	a0001c0001t0002g0261 a0001c0001t0004g0009 a0001c0001t0006g0219 others(11): Show a0001c0001t0002g0261 a0001c0001t0004g0009 a0001c0001t0006g0219 a0001c0001t0007g0115 a0001c0001t0007g0250 a0001c0001t0018g0130 a0001c0001t0031g0324 a0001c0001t0043g0090 a0001c0001t0044g0091 a0001c0007t0004g0100 a0001c0007t0068g0111 a0003c0004t0003g0095 a0003c0004t0029g0108 a0003c0004t0029g0109	14	360	0.0389	-28	c.121 others(47): Show c.1213+4721_1213+4748delTATATATATATATATATATATATATA TA	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSF_chrX_3036471_3117727	3037059	TATATAAT others(21): Show TATATAATATTATATATAAAATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	193	0.0052	-28	c.-46 others(39): Show c.-4632_-4605delATATAATATTATATATAAAATATATATA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4411		chrX	TogoVar
ARSG_chr17_68286495_68425814	68331205	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01256.hp2 HG02896.hp1 others(6): Show HG00099.hp2 HG01256.hp2 HG02896.hp1 HG03130.hp1 HG03209.hp1 HG03710.hp1 NA18612.hp2 NA18947.hp1 NA19043.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0025 a0002c0002 others(1): Show a0001c0001 a0001c0025 a0002c0002 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0025t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0025t0001 a0002c0002t0001 a0002c0002t0002 a0006c0008t0001	a0001c0001t0001g0210 a0001c0001t0001g0297 a0001c0001t0002g0100 others(6): Show a0001c0001t0001g0210 a0001c0001t0001g0297 a0001c0001t0002g0100 a0001c0025t0001g0121 a0002c0002t0001g0032 a0002c0002t0001g0165 a0002c0002t0001g0205 a0002c0002t0002g0144 a0006c0008t0001g0059	9	304	0.0296	-28	c.219 others(47): Show c.219-12371_219-12344delGTTTCTTTCTTTCTTTCTTTCTTTCT TT	ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSH_chrX_3001546_3039111	3008449	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18960.hp1 HG00639.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0202 a0001c0001t0001g0025 a0001c0001t0001g0202	2	248	0.0081	-28	c.93- others(43): Show c.93-1542_93-1515delTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3037059	TATATAAT others(21): Show TATATAATATTATATATAAAATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	248	0.0040	-28	c.36 others(39): Show c.3675_*3702delATATAATATTATATATAAAATATATATA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2949		chrX	TogoVar
ART1_chr11_3640128_3669416	3663071	ATCTCATC others(21): Show ATCTCATCATCTCATCTCATCATCTCATC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02886.hp1 HG02280.hp1 HG02559.hp2 HG02886.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0038 a0002c0007t0004g0039 a0002c0007t0004g0040 a0002c0007t0004g0038 a0002c0007t0004g0039 a0002c0007t0004g0040	3	394	0.0076	-28	c.887 others(44): Show c.887-1018_887-991delTCATCATCTCATCTCATCATCTCATCTC	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
AS3MT_chr10_102864470_102906899	102885495	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	362	0.0028	-28	c.886 others(45): Show c.886-5024_886-4997delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP1_chr8_130047104_130448674	130070840	GGAGAGAG others(21): Show GGAGAGAGGGAGAGAGAGGGAGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp2 others(60): Show HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02165.hp1 HG02523.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp2 NA18975.hp2 NA18982.hp1 NA18984.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(3): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0002t0016 a0002c0002t0020	a0002c0002t0001g0061 a0002c0002t0001g0137 a0002c0002t0003g0055 others(60): Show a0002c0002t0001g0061 a0002c0002t0001g0137 a0002c0002t0003g0055 a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0106 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0152 a0002c0002t0003g0197 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0262 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0004g0107 a0002c0002t0004g0111 a0002c0002t0004g0112 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0015g0239 a0002c0002t0016g0132 a0002c0002t0016g0133 a0002c0002t0020g0299 a0002c0002t0020g0300	63	308	0.2046	-28	c.270 others(47): Show c.2701+5480_2701+5507delTCCCTCTCTCCCTCTCTCTCCCTCTC TC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070886	AGAGAGGG others(21): Show AGAGAGGGAGAGAGGGAGGGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG00673.hp2 others(45): Show HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18973.hp1 NA18990.hp2 NA18994.hp2 NA19003.hp1 NA19009.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0013 others(1): Show a0001c0001 a0001c0004 a0001c0013 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0024 a0001c0004t0002 a0001c0013t0001 a0002c0002t0001	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0108 others(45): Show a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0108 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0236 a0001c0001t0002g0277 a0001c0001t0017g0198 a0001c0001t0024g0209 a0001c0004t0002g0189 a0001c0013t0001g0156 a0002c0002t0001g0060 a0002c0002t0001g0069	48	308	0.1558	-28	c.270 others(47): Show c.2701+5434_2701+5461delCCTCTCTCTCCCTCCCTCTCTCCCTC TC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153332	AATATATA others(21): Show AATATATATATATATATATATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18906.hp1 NA18985.hp1 HG02698.hp1 NA18906.hp1 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0019 a0001c0001t0028 a0002c0003t0001 a0001c0001t0019 a0001c0001t0028 a0002c0003t0001	a0001c0001t0019g0286 a0001c0001t0028g0088 a0002c0003t0001g0029 a0001c0001t0019g0286 a0001c0001t0028g0088 a0002c0003t0001g0029	3	308	0.0097	-28	c.101 others(45): Show c.1011-555_1011-528delACATATATATATATATATATATATATAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASB15_chr7_123596821_123644481	123620528	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02622.hp1 HG00621.hp1 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0283 a0003c0005t0001g0129 a0001c0002t0001g0283 a0003c0005t0001g0129	2	380	0.0053	-28	c.451 others(45): Show c.451+2793_451+2820delATATATATATATATATATATATATATTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620532	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0033 a0006c0008t0033	a0006c0008t0033g0294 a0006c0008t0033g0294	1	380	0.0026	-28	c.451 others(45): Show c.451+2797_451+2824delATATATATATATATATATATATTTTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123623931	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00673.hp1 others(30): Show HG00323.hp2 HG00408.hp1 HG00673.hp1 HG00738.hp2 HG01099.hp1 HG01175.hp2 HG01496.hp1 HG01516.hp1 HG02040.hp1 HG02056.hp1 HG02683.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp1 HG06807.hp2 NA18939.hp1 NA18945.hp2 NA18949.hp1 NA18952.hp1 NA18960.hp1 NA18970.hp2 NA18975.hp2 NA18989.hp2 NA19007.hp2 NA19043.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19072.hp2 NA19080.hp1 NA19084.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0005 a0004c0004 a0001c0002 a0003c0005 a0004c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0026 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0026 a0001c0002t0042 a0001c0002t0043 a0003c0005t0001 a0004c0004t0002	a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0019 others(30): Show a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0118 a0001c0002t0001g0144 a0001c0002t0001g0172 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0282 a0001c0002t0001g0286 a0001c0002t0001g0296 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0339 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0026g0340 a0001c0002t0042g0281 a0001c0002t0043g0103 a0003c0005t0001g0180 a0004c0004t0002g0242	33	380	0.0868	-28	c.452 others(43): Show c.452-600_452-573delAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515163	CTTTCTCT others(21): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	388	0.0026	-28	c.488 others(47): Show c.488-12648_488-12621delTTCTCTTTCTTTCTTTCTTTCTTTCT TT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASCC1_chr10_72091032_72221276	72218163	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	216	0.0046	-28	c.-20 others(39): Show c.-2018_-1991delATATATATATATATATATATATATATTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1888		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG02615.hp1 HG02895.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0035 a0007c0007t0004g0037 a0007c0007t0004g0035 a0007c0007t0004g0037	2	372	0.0054	-28	c.542 others(45): Show c.542-2358_542-2331delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19			chr22	TogoVar
ASCC3_chr6_100503194_100886329	100608289	TTATATAT others(21): Show TTATATATACCTTATATATGTATACCTTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02083.hp1 HG02258.hp2 others(7): Show HG01884.hp1 HG02083.hp1 HG02258.hp2 HG02723.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA19240.hp1 NA19240.hp2	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0001c0011 a0005c0007 others(1): Show a0001c0001 a0001c0011 a0005c0007 a0011c0028	a0001c0001t0001 a0001c0011t0001 a0001c0011t0002 others(3): Show a0001c0001t0001 a0001c0011t0001 a0001c0011t0002 a0005c0007t0001 a0005c0007t0008 a0011c0028t0002	a0001c0001t0001g0252 a0001c0011t0001g0297 a0001c0011t0002g0072 others(7): Show a0001c0001t0001g0252 a0001c0011t0001g0297 a0001c0011t0002g0072 a0001c0011t0002g0073 a0005c0007t0001g0291 a0005c0007t0001g0292 a0005c0007t0001g0293 a0005c0007t0008g0309 a0005c0007t0008g0310 a0011c0028t0002g0074	10	314	0.0319	-28	c.478 others(47): Show c.4786-1229_4786-1202delTAAGGTATACATATATAAGGTATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608451	ATATATAT others(21): Show ATATATATATACTTTATATATATATACTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19004.hp2 NA19079.hp2 HG02258.hp1 NA19004.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0225	3	314	0.0096	-28	c.478 others(47): Show c.4786-1391_4786-1364delAAGTATATATATATAAAGTATATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608546	CTTTATAT others(21): Show CTTTATATATATATACTTTATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	314	0.0032	-28	c.478 others(47): Show c.4786-1486_4786-1459delATATATATATAAAGTATATATATATA AA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASF1B_chr19_14114512_14141589	14137371	TTCGCCCC others(21): Show TTCGCCCCCGAGGGGTTCGGATCCCGCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp2 others(60): Show HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02083.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG04115.hp1 HG06807.hp2 NA18942.hp1 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18963.hp2 NA18971.hp1 NA18984.hp1 NA18997.hp2 NA19002.hp1 NA19009.hp2 NA19043.hp2 NA19057.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0003t0006	a0001c0001t0001g0018 a0001c0001t0001g0194 a0001c0001t0001g0226 others(46): Show a0001c0001t0001g0018 a0001c0001t0001g0194 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0002t0002g0004 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0008g0037 a0001c0003t0006g0190 a0001c0003t0006g0191 a0001c0003t0006g0212	63	334	0.1886	-28	c.-94 others(37): Show c.-943_-916delGAGCGGGATCCGAACCCCTCGGGGGCGA	ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding		783		chr19	TogoVar
ASGR2_chr17_7096326_7119822	7118481	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0168 a0001c0010t0009g0168	1	432	0.0023	-28	c.-39 others(39): Show c.-3965_-3938delTCCTTCCTTCCTTCCTTCCTTCCTTCCT	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding		3660		chr17	TogoVar
ASPH_chr8_61495556_61719592	61561075	AGAGGGAG others(21): Show AGAGGGAGGGAGGGAGGGAGGGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02970.hp2 others(5): Show HG01884.hp2 HG02486.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03831.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(5): Show a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0012g0005 a0001c0001t0012g0006	8	258	0.0310	-28	c.143 others(47): Show c.1437+1641_1437+1668delCCTCTCTCCCTCCCTCCCTCCCTCCC TC	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24			chr8	TogoVar
ASRGL1_chr11_62332448_62398412	62362891	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01069.hp1 others(9): Show HG00280.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp2 HG01515.hp2 HG02004.hp2 HG02886.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0354 a0001c0001t0005g0355 a0001c0001t0005g0358 others(9): Show a0001c0001t0005g0354 a0001c0001t0005g0355 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0005g0362 a0001c0001t0005g0363 a0001c0001t0005g0364 a0001c0001t0005g0365 a0001c0001t0005g0366 a0001c0001t0010g0357	12	370	0.0324	-28	c.491 others(45): Show c.491+5765_491+5792delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar

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