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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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	distance	status	chr	external
ARMC6_chr19_19028603_19063176	19051369	CTCTCTCT others(11): Show CTCTCTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02818.hp1 others(3): Show HG02280.hp2 HG02615.hp2 HG02818.hp1 HG02896.hp2 HG03139.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0033 a0001c0002t0003g0050 a0001c0002t0003g0006 a0001c0002t0003g0033 a0001c0002t0003g0050	6	322	0.0186	-18	c.280 others(33): Show c.280-251_280-234delCTCTCTGTGTGTGTGTGT		ARMC6	ENSG00000105676.14	transcript	ENST00000535612.6	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARMC8_chr3_138182301_138303373	138201436	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	246	0.0041	-18	c.46- others(33): Show c.46-8357_46-8340delTTTTTTTTTTTTTTTTTT		ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMC8_chr3_138182301_138303373	138229132	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	246	0.0041	-18	c.528 others(33): Show c.528+124_528+141delGTATATATATATATATAT		ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMC8_chr3_138182301_138303373	138229166	ATATATAT others(11): Show ATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00741.hp2 others(25): Show HG00140.hp1 HG00408.hp1 HG00741.hp2 HG01070.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01981.hp2 HG02080.hp2 HG02300.hp2 HG03579.hp2 HG03669.hp2 HG04115.hp1 HG04115.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18963.hp1 NA18969.hp1 NA18985.hp1 NA19005.hp1 NA19011.hp1 NA19062.hp1 NA19066.hp1 NA19079.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0054 others(25): Show a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0002g0057 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0004g0125	28	246	0.1138	-18	c.528 others(33): Show c.528+162_528+179delATATATATATATGTATAT		ARMC8	ENSG00000114098.18	transcript	ENST00000469044.6	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMC9_chr2_231193631_231381848	231372699	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0039 a0001c0004t0036g0039	1	200	0.0050	-18	c.12 others(29): Show c.1203_*1220delGTGTGTGTGTGTGTGTGT		ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	25/25				1203	INFO_REALIGN_3_PRIME	chr2	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
ARMH3_chr10_101840599_102061173	101944269	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	262	0.0038	-18	c.170 others(37): Show c.1706-4349_1706-4332delCTCTCTCTCTCTCTATAT		ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	22/25						chr10	TogoVar
ARMH4_chr14_57995761_58157213	58153338	TTTTTTAT others(11): Show TTTTTTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02818.hp2 HG03139.hp1 HG02280.hp2 HG02818.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0019 a0003c0009t0001 a0001c0001t0001 a0001c0001t0019 a0003c0009t0001	a0001c0001t0001g0173 a0001c0001t0019g0004 a0003c0009t0001g0003 a0001c0001t0001g0173 a0001c0001t0019g0004 a0003c0009t0001g0003	3	258	0.0116	-18	c.-13 others(29): Show c.-1338_-1321delTAATAATAATAATAAAAA		ARMH4	ENSG00000139971.15	transcript	ENST00000267485.7	protein_coding					1126		chr14	TogoVar
ARNT_chr1_150804713_150881599	150807066	TGTCTCTC others(11): Show TGTCTCTCTCTCTCTCACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	326	0.0031	-18	c.49 others(29): Show c.4937_*4954delTGTGAGAGAGAGAGAGAC		ARNT	ENSG00000143437.21	transcript	ENST00000358595.10	protein_coding					2646		chr1	TogoVar
ARPC1A_chr7_99320898_99371262	99350631	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01516.hp1 HG01517.hp2 others(34): Show HG01346.hp2 HG01516.hp1 HG01517.hp2 HG02083.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0271 a0001c0001t0001g0272 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304	37	316	0.1171	-18	c.500 others(35): Show c.500+1687_500+1704delTTTTTTTTTTTTTTTTTT		ARPC1A	ENSG00000241685.10	transcript	ENST00000262942.10	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
ARPC2_chr2_218212189_218259348	218225695	GCTGGCCT others(11): Show GCTGGCCTTCCTTTTTTAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01123.hp1 others(42): Show HG00423.hp1 HG00544.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01496.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02040.hp1 HG02080.hp2 HG02129.hp1 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02738.hp2 HG03492.hp1 HG03704.hp2 HG03834.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18949.hp1 NA18951.hp1 NA18955.hp2 NA18963.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18984.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19055.hp2 NA19060.hp1 NA19070.hp1 NA19083.hp1 NA19084.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0003g0005	45	332	0.1355	-18	c.75- others(31): Show c.75-221_75-204delGCCTTCCTTTTTTATCTG		ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
ARPP21_chr3_35634525_35799486	35667839	TCAAAGAA others(11): Show TCAAAGAAGAAGAAGAAGA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	266	0.0038	-18	c.-21 others(39): Show c.-212-11947_-212-11930delCAAAGAAGAAGAAGAAGA		ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20						chr3	TogoVar
ARPP21_chr3_35634525_35799486	35667948	AAAGAAGA others(11): Show AAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG02257.hp1 others(7): Show HG00733.hp1 HG02109.hp1 HG02257.hp1 HG02630.hp1 HG02717.hp2 HG02886.hp2 NA19003.hp1 NA19003.hp2 NA19056.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001	a0001c0001t0002g0153 a0001c0001t0007g0127 a0001c0002t0002g0170 others(7): Show a0001c0001t0002g0153 a0001c0001t0007g0127 a0001c0002t0002g0170 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0193 a0001c0002t0002g0196 a0001c0003t0001g0074 a0001c0003t0002g0179 a0001c0005t0001g0086	10	266	0.0376	-18	c.-21 others(39): Show c.-212-11772_-212-11755delAAGAAGAAGAAGAAGAAG		ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARPP21_chr3_35634525_35799486	35768079	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01891.hp1 HG02071.hp2 others(26): Show HG01515.hp1 HG01891.hp1 HG02071.hp2 HG02109.hp1 HG02486.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp2 HG03704.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp2 NA18945.hp1 NA18956.hp2 NA18974.hp1 NA18981.hp2 NA18987.hp2 NA18989.hp2 NA19005.hp2 NA19010.hp2 NA19056.hp1 NA19064.hp1 NA19077.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0003c0014	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0003c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0222 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0003g0126 a0001c0002t0001g0055 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0198 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0005t0001g0107 a0001c0005t0001g0111 a0001c0005t0003g0091 a0003c0014t0001g0253	29	266	0.1090	-18	c.213 others(39): Show c.2137+24157_2137+24174delGTGTGTGTGTGTGTGTGT		ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	19/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARR3_chrX_70263334_70286840	70275659	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	319	0.0031	-18	c.146 others(33): Show c.146-412_146-395delTTTTTTTTTTTTTTTTTT		ARR3	ENSG00000120500.19	transcript	ENST00000307959.9	protein_coding	5/16					INFO_REALIGN_3_PRIME	chrX	TogoVar
ARRB1_chr11_75255122_75356661	75268510	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG02572.hp2 others(7): Show HG01081.hp1 HG01099.hp2 HG02572.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03209.hp2 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0015 a0001c0002t0052 others(1): Show a0001c0002t0011 a0001c0002t0015 a0001c0002t0052 a0001c0002t0063	a0001c0002t0011g0032 a0001c0002t0011g0234 a0001c0002t0011g0238 others(7): Show a0001c0002t0011g0032 a0001c0002t0011g0234 a0001c0002t0011g0238 a0001c0002t0011g0242 a0001c0002t0011g0243 a0001c0002t0015g0022 a0001c0002t0015g0059 a0001c0002t0015g0108 a0001c0002t0052g0135 a0001c0002t0063g0237	10	320	0.0313	-18	c.109 others(35): Show c.1093+361_1093+378delTTTTTTTTTTTTTTTTTT		ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	14/15						chr11	TogoVar
ARRDC1_chr9_137600686_137620360	137601209	TTATATAT others(11): Show TTATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA18950.hp1 NA19240.hp2 HG02027.hp2 NA18950.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0084 a0001c0001t0001g0033 a0001c0001t0001g0084	3	338	0.0089	-18	c.-45 others(29): Show c.-4508_-4491delTATATATATATATATATA		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4476		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601243	ATATATAT others(11): Show ATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	338	0.0030	-18	c.-44 others(29): Show c.-4474_-4457delTATATATATATATATATT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4442		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601245	ATATATAT others(11): Show ATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	338	0.0030	-18	c.-44 others(29): Show c.-4472_-4455delTATATATATATATATTTT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4440		chr9	TogoVar
ARRDC4_chr15_97955703_97978833	97970799	TTTTGTCA others(11): Show TTTTGTCATCCGTTCATTA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0042 a0003c0006t0042	a0003c0006t0042g0115 a0003c0006t0042g0115	1	422	0.0024	-18	c.120 others(33): Show c.1200+57_1200+74delTTTGTCATCCGTTCATTA		ARRDC4	ENSG00000140450.9	transcript	ENST00000268042.7	protein_coding	7/7						chr15	TogoVar
ARRDC5_chr19_4885437_4907896	4886658	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	412	0.0024	-18	c.43 others(29): Show c.4370_*4387delGAGAGAGAGAGAGAGAGA		ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding					3778		chr19	TogoVar
ARRDC5_chr19_4885437_4907896	4896361	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	412	0.0024	-18	c.459 others(33): Show c.459+292_459+309delGTGTGTGTGTGTGTGTGT		ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding	2/2						chr19	TogoVar
ARSB_chr5_78772209_78990310	78828610	CTTTCAAC others(11): Show CTTTCAACTGTTATCTGAT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	360	0.0028	-18	c.121 others(39): Show c.1213+10728_1213+10745delATCAGATAACAGTTGAAA		ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7						chr5	TogoVar
ARSB_chr5_78772209_78990310	78911572	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01261.hp2 HG01943.hp1 others(29): Show HG00558.hp1 HG01261.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02056.hp2 HG02135.hp1 HG02155.hp2 HG02615.hp2 HG02723.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG04115.hp2 NA18942.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA19011.hp2 NA19077.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0006c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0047 a0001c0001t0051 a0001c0003t0002 a0001c0003t0014 a0001c0003t0073 a0001c0005t0036 a0006c0020t0003	a0001c0001t0001g0135 a0001c0001t0001g0245 a0001c0001t0001g0263 others(29): Show a0001c0001t0001g0135 a0001c0001t0001g0245 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0002g0145 a0001c0001t0002g0201 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0301 a0001c0001t0003g0339 a0001c0001t0004g0238 a0001c0001t0005g0235 a0001c0001t0008g0040 a0001c0001t0009g0226 a0001c0001t0010g0107 a0001c0001t0010g0147 a0001c0001t0010g0244 a0001c0001t0010g0264 a0001c0001t0011g0033 a0001c0001t0011g0242 a0001c0001t0013g0227 a0001c0001t0019g0249 a0001c0001t0020g0290 a0001c0001t0025g0316 a0001c0001t0047g0043 a0001c0001t0051g0239 a0001c0003t0002g0078 a0001c0003t0002g0338 a0001c0003t0014g0220 a0001c0003t0073g0099 a0001c0005t0036g0275 a0006c0020t0003g0127	32	360	0.0889	-18	c.899 others(37): Show c.899-25763_899-25746delTTTTTTTTTTTTTTTTTT		ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7						chr5	TogoVar
ARSG_chr17_68286495_68425814	68331245	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0099 a0003c0004t0002g0099	1	304	0.0033	-18	c.219 others(37): Show c.219-12355_219-12338delCTTTCTTTCTTTCTTTTT		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68333631	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0011 a0001c0024t0001g0011	1	304	0.0033	-18	c.219 others(35): Show c.219-9946_219-9929delTAATAATAATAATAATAA		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68372877	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp2 HG03453.hp1 HG06807.hp2	a0001 a0008 a0001 a0008	a0001c0009 a0008c0031 a0001c0009 a0008c0031	a0001c0009t0001 a0008c0031t0001 a0001c0009t0001 a0008c0031t0001	a0001c0009t0001g0259 a0008c0031t0001g0294 a0001c0009t0001g0259 a0008c0031t0001g0294	2	304	0.0066	-18	c.982 others(35): Show c.982+2368_982+2385delTTTTTTTTTTTTTTTTTT		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSG_chr17_68286495_68425814	68387079	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0104 a0002c0002t0002g0104	1	304	0.0033	-18	c.109 others(37): Show c.1091+1930_1091+1947delCACACACACACACACACA		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSJ_chr4_113895284_113984647	113924046	AATATATA others(11): Show AATATATATAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01943.hp2 HG01952.hp2 others(5): Show HG01074.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 NA18959.hp2 NA18970.hp1 NA18983.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0074 a0001c0001t0001g0105 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131	8	350	0.0229	-18	c.399 others(37): Show c.399-20389_399-20372delATATATATTTATATATAT		ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1						chr4	TogoVar
ARSJ_chr4_113895284_113984647	113924058	TATATATA others(11): Show TATATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0024 a0001c0001t0027g0024	1	350	0.0029	-18	c.399 others(37): Show c.399-20401_399-20384delTTATATATATTTATATAT		ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1						chr4	TogoVar
ARSJ_chr4_113895284_113984647	113953538	AATTTGAA others(11): Show AATTTGAATTTCCAATAGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18951.hp1 NA19005.hp1 HG00673.hp2 NA18951.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0002g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0002g0146	3	350	0.0086	-18	c.398 others(37): Show c.398+24881_398+24898delCCTATTGGAAATTCAAAT		ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1						chr4	TogoVar
ARSJ_chr4_113895284_113984647	113961895	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp1 HG00639.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0154 a0001c0001t0007g0194 a0001c0001t0007g0154 a0001c0001t0007g0194	2	350	0.0057	-18	c.398 others(37): Show c.398+16524_398+16541delCACACACACACACACAGA		ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1						chr4	TogoVar
ARSJ_chr4_113895284_113984647	113961897	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	350	0.0029	-18	c.398 others(37): Show c.398+16522_398+16539delCACACACACACACACACA		ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1						chr4	TogoVar
ART4_chr12_14820569_14848526	14830649	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0162 a0003c0003t0003g0162	1	380	0.0026	-18	c.854 others(35): Show c.854-1205_854-1188delTATATATATATATATATA		ART4	ENSG00000111339.12	transcript	ENST00000228936.6	protein_coding	2/2						chr12	TogoVar
ART5_chr11_3633512_3646992	3645323	GTTGGGAG others(11): Show GTTGGGAGCCATGGGAAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	454	0.0022	-18	c.-34 others(29): Show c.-3479_-3462delACTTCCCATGGCTCCCAA		ART5	ENSG00000167311.14	transcript	ENST00000397068.8	protein_coding					3332		chr11	TogoVar
ARV1_chr1_230974094_231005733	230984345	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG03195.hp2 others(2): Show HG02451.hp2 HG02717.hp1 HG03195.hp2 HG03209.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0250 a0001c0001t0004g0251 others(1): Show a0001c0001t0004g0052 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252	5	402	0.0124	-18	c.175 others(35): Show c.175-3957_175-3940delCGTGTGTGTGTGTGTGTG		ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
ARV1_chr1_230974094_231005733	230986668	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02723.hp2 others(3): Show HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02896.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0017 a0001c0001t0001g0194 a0001c0001t0001g0196	6	402	0.0149	-18	c.175 others(35): Show c.175-1631_175-1614delTTTTTTTTTTTTTTTTTT		ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	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	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
AS3MT_chr10_102864470_102906899	102885495	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0228 a0001c0001t0011g0228	1	362	0.0028	-18	c.886 others(35): Show c.886-5014_886-4997delTTTTTTTTTTTTTTTTTT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049101	TACATGGG others(11): Show TACATGGGGTGCAGAGAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	308	0.0033	-18	c.56 others(29): Show c.5612_*5629delGTTCTCTGCACCCCATGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					3002		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070814	GGAGAGAG others(11): Show GGAGAGAGGGAGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00642.hp1 others(25): Show HG00597.hp2 HG00609.hp1 HG00642.hp1 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG02080.hp2 HG02083.hp1 HG02165.hp2 HG02717.hp1 HG02965.hp2 HG03942.hp2 HG04228.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp2 NA18966.hp1 NA19000.hp2 NA19002.hp1 NA19010.hp1 NA19065.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0029 a0002c0011t0001	a0002c0002t0001g0014 a0002c0002t0001g0063 a0002c0002t0001g0064 others(25): Show a0002c0002t0001g0014 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0100 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0240 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0002g0033 a0002c0002t0002g0265 a0002c0002t0002g0270 a0002c0002t0011g0235 a0002c0002t0029g0095 a0002c0011t0001g0074	28	308	0.0909	-18	c.270 others(37): Show c.2701+5516_2701+5533delTCCCTCTCTCCCTCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130151370	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp1 HG01891.hp2 others(3): Show HG00741.hp1 HG01261.hp1 HG01891.hp2 HG02615.hp2 HG02630.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0001 a0001c0001t0002 a0001c0001t0018	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 others(3): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0002g0216 a0001c0001t0018g0290 a0001c0001t0018g0294	6	308	0.0195	-18	c.108 others(37): Show c.1080+1348_1080+1365delTTTTTTTTTTTTTTTTTT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	13/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256738	CTTATATA others(11): Show CTTATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	308	0.0033	-18	c.187 others(37): Show c.187-19762_187-19745delATATATATATATATATAA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256739	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02738.hp1 HG02055.hp1 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0159 a0002c0002t0001g0105 a0001c0001t0001g0159 a0002c0002t0001g0105	2	308	0.0065	-18	c.187 others(37): Show c.187-19763_187-19746delTATATATATATATATATA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256767	ATATATAT others(11): Show ATATATATATATATATCCT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0185 a0001c0004t0002g0185	1	308	0.0033	-18	c.187 others(37): Show c.187-19791_187-19774delAGGATATATATATATATA		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276687	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	308	0.0033	-18	c.187 others(37): Show c.187-39711_187-39694delGTGTGTGTGTGTGTGTGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130420235	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	308	0.0033	-18	c.-27 others(37): Show c.-27-18283_-27-18266delGTGTGTGTGTGTGTGTGT		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	1/29						chr8	TogoVar
ASAP3_chr1_23423563_23489179	23425176	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG03017.hp1 HG01515.hp1 HG01517.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101	3	346	0.0087	-18	c.46 others(29): Show c.4662_*4679delACACACACACACACACAC		ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding					3386		chr1	TogoVar
ASB15_chr7_123596821_123644481	123620538	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0290 a0002c0003t0002g0290	1	380	0.0026	-18	c.451 others(35): Show c.451+2803_451+2820delATATATATATATATATTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar

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