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
ASAP2_chr2_9201812_9410678	9361974	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp2 others(18): Show HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG01496.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG03098.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18953.hp2 NA18964.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0011 a0002c0008 a0001c0003 a0001c0011 a0002c0008	a0001c0003t0001 a0001c0003t0006 a0001c0003t0011 others(4): Show a0001c0003t0001 a0001c0003t0006 a0001c0003t0011 a0001c0003t0021 a0001c0011t0001 a0002c0008t0001 a0002c0008t0006	a0001c0003t0001g0017 a0001c0003t0001g0029 a0001c0003t0001g0046 others(18): Show a0001c0003t0001g0017 a0001c0003t0001g0029 a0001c0003t0001g0046 a0001c0003t0001g0153 a0001c0003t0001g0169 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0006g0006 a0001c0003t0006g0064 a0001c0003t0006g0065 a0001c0003t0006g0080 a0001c0003t0006g0102 a0001c0003t0006g0104 a0001c0003t0006g0105 a0001c0003t0006g0135 a0001c0003t0006g0158 a0001c0003t0011g0068 a0001c0003t0021g0040 a0001c0011t0001g0178 a0002c0008t0001g0108 a0002c0008t0006g0103	21	210	0.1000	-12	c.146 others(31): Show c.1461+3112_1461+3123delGTGTGTGTGTGT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	15/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23424658	CGAGGGGC others(5): Show CGAGGGGCACAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	346	0.0029	-12	c.51 others(23): Show c.5186_*5197delCCTGTGCCCCTC		ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding					3904		chr1	TogoVar
ASAP3_chr1_23423563_23489179	23425176	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01175.hp2 others(3): Show HG00558.hp1 HG00621.hp1 HG01175.hp2 HG02723.hp2 HG02886.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0002 a0001c0001t0002 a0001c0011t0002	a0001c0001t0002g0231 a0001c0001t0002g0286 a0001c0001t0002g0304 others(3): Show a0001c0001t0002g0231 a0001c0001t0002g0286 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0315 a0001c0011t0002g0267	6	346	0.0173	-12	c.46 others(23): Show c.4668_*4679delACACACACACAC		ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding					3386		chr1	TogoVar
ASAP3_chr1_23423563_23489179	23428172	AACAGAGA others(5): Show AACAGAGACAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	346	0.0029	-12	c.16 others(23): Show c.1672_*1683delCACTGTCTCTGT		ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding					390		chr1	TogoVar
ASAP3_chr1_23423563_23489179	23440500	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19080.hp2 NA19084.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0245 a0001c0001t0002g0323 a0001c0001t0002g0221 a0001c0001t0002g0245 a0001c0001t0002g0323	3	346	0.0087	-12	c.944 others(27): Show c.944+590_944+601delTTTTTTTTTTTT		ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	10/24						chr1	TogoVar
ASAP3_chr1_23423563_23489179	23464659	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01517.hp1 HG02074.hp1 others(24): Show HG00597.hp2 HG01517.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp2 HG03017.hp1 HG03491.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG04204.hp1 HG04228.hp1 NA18942.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18973.hp2 NA18986.hp1 NA18997.hp2 NA19005.hp2 NA19010.hp2 NA19058.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(21): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0008g0070	27	346	0.0780	-12	c.130 others(29): Show c.130-8477_130-8466delTTTTTTTTTTTT		ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24						chr1	TogoVar
ASB11_chrX_15276697_15320640	15305597	TTAGATAG others(5): Show TTAGATAGATAGA	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0058 a0005c0006t0010g0058	1	306	0.0033	-12	c.182 others(29): Show c.182-2802_182-2791delTCTATCTATCTA		ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	1/6						chrX	TogoVar
ASB12_chrX_64219194_64235607	64235197	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01243.hp1 HG01255.hp1 others(24): Show HG00597.hp2 HG01243.hp1 HG01255.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 NA18989.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0039	27	289	0.0934	-12	c.-47 others(23): Show c.-4771_-4760delCACACACACACA		ASB12	ENSG00000198881.10	transcript	ENST00000362002.3	protein_coding					4591		chrX	TogoVar
ASB15_chr7_123596821_123644481	123611082	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0089 a0001c0001t0009g0089	1	380	0.0026	-12	c.-3+ others(27): Show c.-3+2439_-3+2450delAAAAAAAAAAAA		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620497	CATATACA others(5): Show CATATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18984.hp1 HG01099.hp2 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0141 a0001c0002t0001g0142	2	380	0.0053	-12	c.451 others(29): Show c.451+2766_451+2777delCATACATATATA		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620503	CATACATA others(5): Show CATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01952.hp1 HG01981.hp2 others(1): Show HG01168.hp2 HG01952.hp1 HG01981.hp2 NA18946.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0002 a0001c0002t0001 a0003c0005t0002	a0001c0002t0001g0108 a0001c0002t0001g0148 a0003c0005t0002g0248 others(1): Show a0001c0002t0001g0108 a0001c0002t0001g0148 a0003c0005t0002g0248 a0003c0005t0002g0253	4	380	0.0105	-12	c.451 others(29): Show c.451+2770_451+2781delCATATATATATA		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620546	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18944.hp1 NA18945.hp1 others(2): Show HG01361.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0002 a0001c0001t0004 a0003c0005t0002	a0001c0001t0004g0009 a0001c0001t0004g0137 a0003c0005t0002g0246 others(1): Show a0001c0001t0004g0009 a0001c0001t0004g0137 a0003c0005t0002g0246 a0003c0005t0002g0250	5	380	0.0132	-12	c.451 others(29): Show c.451+2811_451+2822delATATATATTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620548	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03491.hp1 HG02615.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0175 a0001c0001t0004g0348 a0001c0001t0003g0175 a0001c0001t0004g0348	2	380	0.0053	-12	c.451 others(29): Show c.451+2813_451+2824delATATATTTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620550	ATATATTT others(5): Show ATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18522.hp1 NA19000.hp1 HG03710.hp2 NA18522.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013	a0001c0001t0003g0274 a0001c0001t0010g0287 a0001c0001t0013g0319 a0001c0001t0003g0274 a0001c0001t0010g0287 a0001c0001t0013g0319	3	380	0.0079	-12	c.451 others(29): Show c.451+2815_451+2826delATATTTTTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620552	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02735.hp2 HG02080.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0045 a0001c0001t0010g0314 a0001c0001t0010g0045 a0001c0001t0010g0314	2	380	0.0053	-12	c.451 others(29): Show c.451+2817_451+2828delATTTTTTTTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123623927	AAAGAAAA others(5): Show AAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18956.hp2 HG03688.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0313 a0001c0001t0004g0241 a0001c0001t0003g0313 a0001c0001t0004g0241	2	380	0.0053	-12	c.452 others(27): Show c.452-639_452-628delGAAAAGAAAGAA		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123623930	GAAAAGAA others(5): Show GAAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0227 a0002c0003t0002g0227	1	380	0.0026	-12	c.452 others(27): Show c.452-638_452-627delAAAAGAAAGAAA		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11						chr7	TogoVar
ASB15_chr7_123596821_123644481	123623931	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00642.hp2 others(47): Show HG00323.hp1 HG00639.hp1 HG00642.hp2 HG01167.hp1 HG01256.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18959.hp1 NA18961.hp1 NA18975.hp1 NA18979.hp2 NA18988.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19062.hp1 NA19070.hp2 NA19087.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006 a0004c0004 a0005c0007 a0006c0008 a0007c0010 a0011c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0030 a0001c0001t0034 a0001c0001t0048 a0001c0002t0001 a0001c0002t0044 a0001c0002t0049 a0002c0003t0002 a0002c0003t0021 a0003c0006t0005 a0003c0006t0007 a0003c0006t0012 a0004c0004t0002 a0005c0007t0003 a0006c0008t0003 a0007c0010t0024 a0011c0012t0007	a0001c0001t0002g0001 a0001c0001t0002g0059 a0001c0001t0002g0163 others(47): Show a0001c0001t0002g0001 a0001c0001t0002g0059 a0001c0001t0002g0163 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0165 a0001c0001t0004g0100 a0001c0001t0004g0271 a0001c0001t0004g0275 a0001c0001t0004g0316 a0001c0001t0005g0001 a0001c0001t0005g0079 a0001c0001t0006g0032 a0001c0001t0006g0077 a0001c0001t0006g0084 a0001c0001t0007g0075 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0008g0327 a0001c0001t0009g0001 a0001c0001t0009g0305 a0001c0001t0010g0039 a0001c0001t0010g0045 a0001c0001t0010g0287 a0001c0001t0010g0314 a0001c0001t0011g0155 a0001c0001t0011g0258 a0001c0001t0011g0273 a0001c0001t0014g0086 a0001c0001t0014g0087 a0001c0001t0030g0288 a0001c0001t0034g0081 a0001c0001t0048g0065 a0001c0002t0001g0052 a0001c0002t0001g0120 a0001c0002t0044g0264 a0001c0002t0049g0107 a0002c0003t0002g0194 a0002c0003t0021g0179 a0003c0006t0005g0181 a0003c0006t0007g0195 a0003c0006t0012g0186 a0004c0004t0002g0037 a0004c0004t0002g0236 a0005c0007t0003g0293 a0005c0007t0003g0318 a0006c0008t0003g0303 a0007c0010t0024g0126 a0011c0012t0007g0090	50	380	0.1316	-12	c.452 others(27): Show c.452-584_452-573delAAGAAAGAAAGA		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB18_chr2_236188459_236269406	236246346	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0003 a0009c0026t0003	a0009c0026t0003g0242 a0009c0026t0003g0242	1	250	0.0040	-12	c.206 others(29): Show c.206-4956_206-4945delTTTTTTTTTTTT		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	1/5						chr2	TogoVar
ASB18_chr2_236188459_236269406	236252267	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02055.hp2 others(18): Show HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0011 a0006c0014	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0008t0003 a0002c0011t0002 a0006c0014t0008	a0001c0001t0001g0014 a0001c0001t0001g0203 a0001c0001t0001g0204 others(16): Show a0001c0001t0001g0014 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0093 a0001c0003t0002g0010 a0001c0003t0005g0002 a0001c0003t0005g0004 a0001c0003t0005g0023 a0001c0003t0005g0024 a0001c0003t0005g0027 a0001c0003t0005g0215 a0001c0003t0005g0216 a0001c0008t0003g0026 a0002c0011t0002g0120 a0006c0014t0008g0025	21	250	0.0840	-12	c.206 others(31): Show c.206-10877_206-10866delTGTGTGTGTGTG		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	1/5						chr2	TogoVar
ASB3_chr2_53664980_53791953	53721123	TATAAATA others(5): Show TATAAATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG03041.hp1 HG01070.hp2 HG01071.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0040 a0001c0001t0001g0124 a0001c0003t0002g0296 a0001c0001t0001g0040 a0001c0001t0001g0124 a0001c0003t0002g0296	3	350	0.0086	-12	c.605 others(29): Show c.605-4392_605-4381delTTATTTATTTAT		ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	5/9						chr2	TogoVar
ASB4_chr7_95480943_95545233	95493380	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(50): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01074.hp2 HG01168.hp1 HG01516.hp2 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02132.hp2 HG02165.hp2 HG02258.hp2 HG02559.hp2 HG02735.hp1 HG02965.hp1 HG03239.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18747.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp1 NA18957.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19007.hp1 NA19012.hp1 NA19054.hp1 NA19060.hp2 NA19068.hp2 NA19075.hp2 NA19081.hp1 NA19086.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0006t0003	a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0194 others(49): Show a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0002g0204 a0001c0001t0003g0206 a0001c0001t0003g0301 a0001c0001t0004g0110 a0001c0001t0005g0299 a0001c0001t0008g0236 a0001c0001t0023g0218 a0001c0001t0024g0211 a0001c0006t0003g0238	53	388	0.1366	-12	c.188 others(29): Show c.188-2366_188-2355delATGTGTGTGTGT		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95513253	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp2 NA18906.hp1 HG03195.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0250 a0001c0001t0009g0302 a0001c0001t0009g0019 a0001c0001t0009g0250 a0001c0001t0009g0302	3	388	0.0077	-12	c.488 others(31): Show c.488-14550_488-14539delTTTTTTTTTTTT		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515163	CTTTCTCT others(5): Show CTTTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01261.hp1 others(7): Show HG00735.hp2 HG00741.hp2 HG01261.hp1 HG01516.hp1 HG01884.hp1 HG01981.hp1 HG02738.hp2 HG02809.hp1 HG03195.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0002c0002t0006	a0001c0001t0001g0181 a0001c0001t0001g0347 a0001c0001t0002g0300 others(7): Show a0001c0001t0001g0181 a0001c0001t0001g0347 a0001c0001t0002g0300 a0001c0001t0004g0086 a0001c0001t0005g0193 a0001c0001t0006g0133 a0001c0001t0014g0098 a0001c0001t0014g0104 a0001c0001t0015g0113 a0002c0002t0006g0034	10	388	0.0258	-12	c.488 others(31): Show c.488-12648_488-12637delTTCTCTTTCTTT		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515167	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02257.hp2 HG03942.hp1 others(2): Show HG01099.hp1 HG02257.hp2 HG03942.hp1 NA18952.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0159 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0159 a0001c0001t0001g0279 a0001c0001t0002g0070	5	388	0.0129	-12	c.488 others(31): Show c.488-12592_488-12581delCTTTCTTTCTTT		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515267	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp1 HG03579.hp1 others(5): Show HG01891.hp2 HG03209.hp1 HG03579.hp1 NA18945.hp2 NA18953.hp2 NA18954.hp1 NA18979.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019	a0001c0001t0001g0219 a0001c0001t0002g0046 a0001c0001t0002g0130 others(5): Show a0001c0001t0001g0219 a0001c0001t0002g0046 a0001c0001t0002g0130 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0004g0110 a0001c0001t0005g0340 a0001c0001t0019g0171	8	388	0.0206	-12	c.488 others(31): Show c.488-12505_488-12494delTCTTTCTTTCTT		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95515308	TCTTTCTT others(5): Show TCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0370 a0001c0001t0016g0370	1	388	0.0026	-12	c.488 others(31): Show c.488-12501_488-12490delTCTTTCTTCCTT		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95518852	GAGATAAA others(5): Show GAGATAAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19085.hp1 HG00609.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0368 a0001c0001t0001g0369	2	388	0.0052	-12	c.488 others(29): Show c.488-8960_488-8949delAGATAAAAGGAA		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4						chr7	TogoVar
ASB5_chr4_176208673_176274222	176219575	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp1 HG02258.hp1 others(3): Show HG01433.hp1 HG02109.hp1 HG02258.hp1 HG03453.hp1 HG03486.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0122 a0001c0002t0001g0084 a0001c0002t0001g0085 others(3): Show a0001c0001t0005g0122 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0303	6	410	0.0146	-12	c.670 others(29): Show c.670+1568_670+1579delATATATATATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASCC1_chr10_72091032_72221276	72141036	TATAGATA others(5): Show TATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG03225.hp2 others(1): Show HG02723.hp1 HG02809.hp1 HG03225.hp2 HG03453.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0004 a0004c0005 a0005c0004	a0004c0005t0005 a0005c0004t0005 a0004c0005t0005 a0005c0004t0005	a0004c0005t0005g0023 a0004c0005t0005g0161 a0005c0004t0005g0189 others(1): Show a0004c0005t0005g0023 a0004c0005t0005g0161 a0005c0004t0005g0189 a0005c0004t0005g0198	4	216	0.0185	-12	c.747 others(29): Show c.747-7867_747-7856delCTATCTATCTAT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	7/9						chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218159	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	216	0.0046	-12	c.-19 others(23): Show c.-1998_-1987delATATATTTTTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1884		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218161	AAAAAATA others(5): Show AAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA19007.hp1 NA19077.hp1 HG02572.hp2 NA19007.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0002g0104 a0001c0001t0002g0118 a0001c0001t0001g0049 a0001c0001t0002g0104 a0001c0001t0002g0118	3	216	0.0139	-12	c.-20 others(23): Show c.-2000_-1989delATATATATTTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1886		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218163	AAAATATA others(5): Show AAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 NA19090.hp2 HG01934.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0142 a0001c0001t0002g0016 a0001c0001t0002g0142	2	216	0.0093	-12	c.-20 others(23): Show c.-2002_-1991delATATATATATTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1888		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218165	AATATATA others(5): Show AATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01978.hp2 HG03041.hp1 others(2): Show HG01243.hp2 HG01978.hp2 HG03041.hp1 HG03942.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0132 others(2): Show a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0132 a0001c0001t0001g0133 a0002c0002t0004g0199	5	216	0.0232	-12	c.-20 others(23): Show c.-2004_-1993delATATATATATAT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					1890		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01358.hp1 others(9): Show HG01106.hp1 HG01123.hp2 HG01358.hp1 HG01934.hp2 HG02074.hp2 HG02080.hp2 HG02683.hp2 HG03195.hp1 HG03225.hp1 NA18942.hp1 NA18989.hp1 NA18999.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0003c0003t0001 a0004c0004t0005	a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0229 others(9): Show a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0229 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0280 a0001c0001t0005g0061 a0003c0003t0001g0151 a0003c0003t0001g0176 a0003c0003t0001g0177 a0004c0004t0005g0057	12	372	0.0323	-12	c.542 others(29): Show c.542-2342_542-2331delGTGTGTGTGTGT		ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19						chr22	TogoVar
ASCC3_chr6_100503194_100886329	100560748	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02615.hp1 HG02809.hp2 others(2): Show HG01928.hp1 HG02615.hp1 HG02809.hp2 HG03516.hp1 HG03579.hp2	a0007 a0018 a0022 a0007 a0018 a0022	a0007c0012 a0007c0025 a0018c0032 others(1): Show a0007c0012 a0007c0025 a0018c0032 a0022c0037	a0007c0012t0009 a0007c0025t0017 a0018c0032t0019 others(1): Show a0007c0012t0009 a0007c0025t0017 a0018c0032t0019 a0022c0037t0002	a0007c0012t0009g0312 a0007c0012t0009g0313 a0007c0025t0017g0227 others(2): Show a0007c0012t0009g0312 a0007c0012t0009g0313 a0007c0025t0017g0227 a0018c0032t0019g0314 a0022c0037t0002g0056	5	314	0.0159	-12	c.555 others(33): Show c.5551-20373_5551-20362delGTGTGTGTGTGT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	36/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100687028	TCTCTCTC others(5): Show TCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG01081.hp2 others(19): Show HG00438.hp2 HG00735.hp1 HG01081.hp2 HG01361.hp2 HG01952.hp1 HG01978.hp2 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02602.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp2 NA18747.hp2 NA18945.hp1 NA18955.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA19002.hp1 NA19065.hp2 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 others(19): Show a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 a0003c0004t0004g0174 a0003c0004t0004g0175 a0003c0004t0004g0176 a0003c0004t0004g0177 a0003c0004t0004g0178 a0003c0004t0004g0179 a0003c0004t0004g0180 a0003c0004t0004g0182 a0003c0004t0004g0184 a0003c0004t0004g0185 a0003c0004t0004g0187 a0003c0004t0004g0189 a0003c0004t0004g0190 a0003c0004t0004g0191 a0003c0004t0004g0193 a0003c0004t0004g0194 a0003c0004t0004g0195 a0003c0004t0004g0199 a0003c0004t0004g0200	22	314	0.0701	-12	c.215 others(31): Show c.2152-7288_2152-7277delTGTGTGAGAGAG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100723860	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00735.hp2 others(36): Show HG00140.hp2 HG00323.hp1 HG00735.hp2 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02258.hp1 HG02258.hp2 HG02723.hp1 HG02723.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18950.hp2 NA18971.hp2 NA18982.hp1 NA18990.hp2 NA19000.hp2 NA19004.hp2 NA19079.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0011	a0001c0001 a0001c0011 a0001c0029 others(3): Show a0001c0001 a0001c0011 a0001c0029 a0005c0007 a0006c0027 a0011c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0011t0001 a0001c0011t0002 a0001c0029t0001 a0005c0007t0001 a0005c0007t0008 a0006c0027t0001 a0011c0028t0002	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(36): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0004g0188 a0001c0001t0015g0300 a0001c0011t0001g0297 a0001c0011t0002g0072 a0001c0011t0002g0073 a0001c0029t0001g0303 a0005c0007t0001g0291 a0005c0007t0001g0292 a0005c0007t0001g0293 a0005c0007t0008g0309 a0005c0007t0008g0310 a0006c0027t0001g0305 a0011c0028t0002g0074	39	314	0.1242	-12	c.190 others(31): Show c.1902+1667_1902+1678delTATATATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	11/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100744257	TTATACCA others(5): Show TTATACCAAATAG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0101 a0001c0002t0003g0101	1	314	0.0032	-12	c.173 others(33): Show c.1738-18566_1738-18555delCTATTTGGTATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100745952	GACATAGA others(5): Show GACATAGATAGGC	G G	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0014 a0002c0003t0002g0014	1	314	0.0032	-12	c.173 others(33): Show c.1738-20261_1738-20250delGCCTATCTATGT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100745968	CATGGTAT others(5): Show CATGGTATATTTT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0117 a0001c0002t0003g0117	1	314	0.0032	-12	c.173 others(33): Show c.1738-20277_1738-20266delAAAATATACCAT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41						chr6	TogoVar
ASCL1_chr12_102952674_102965513	102958393	CGCAGCAG others(5): Show CGCAGCAGCAGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03704.hp1 HG03704.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0001 a0011c0021t0001g0001	1	354	0.0028	-12	c.175 others(19): Show c.175_186delCAGCAGCAGCAG	p.Gln others(11): Show p.Gln59_Gln62del	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	746/2481	175/711	59/236		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL2_chr11_2263498_2275588	2271069	ACGCCCCA others(5): Show ACGCCCCACCCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	420	0.0024	-12	c.-74 others(21): Show c.-749_-738delGAGGGTGGGGCG		ASCL2	ENSG00000183734.5	transcript	ENST00000331289.5	protein_coding					482		chr11	TogoVar
ASDURF_chr2_189656459_189671401	189665596	GTGTATAT others(5): Show GTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp1 HG01109.hp1 others(10): Show HG00544.hp1 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01516.hp2 HG02015.hp1 HG02145.hp1 HG03688.hp2 NA18522.hp1 NA18941.hp2 NA18969.hp2 NA19062.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0002g0007 a0001c0001t0002g0038 others(3): Show a0001c0001t0001g0077 a0001c0001t0002g0007 a0001c0001t0002g0038 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111	13	340	0.0382	-12	c.220 others(27): Show c.220+147_220+158delGTATATATATAT		ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASF1A_chr6_118889152_118914171	118908559	ATTTTCAC others(5): Show ATTTTCACACCTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0003	1	400	0.0025	-12	c.94 others(21): Show c.947_*958delTTTCACACCTGT		ASF1A	ENSG00000111875.8	transcript	ENST00000229595.6	protein_coding	4/4				947	INFO_REALIGN_3_PRIME	chr6	TogoVar
ASF1B_chr19_14114512_14141589	14129678	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01981.hp1 HG01099.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0001t0007 a0001c0002t0002	a0001c0001t0007g0240 a0001c0002t0002g0186 a0001c0001t0007g0240 a0001c0002t0002g0186	2	334	0.0060	-12	c.110 others(29): Show c.110-3453_110-3442delTTTTTTTTTTTT		ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding	1/3						chr19	TogoVar
ASGR1_chr17_7168431_7184370	7178726	TTTTTTTC others(5): Show TTTTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	442	0.0023	-12	c.-25 others(27): Show c.-25-150_-25-139delGAAAAGAAAAAA		ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	1/8						chr17	TogoVar
ASGR1_chr17_7168431_7184370	7183611	AAAATAAA others(5): Show AAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01993.hp2 HG02258.hp2 others(3): Show HG00639.hp1 HG01993.hp2 HG02258.hp2 HG02559.hp1 HG02717.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0064 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0064 a0001c0002t0001g0010 a0001c0002t0001g0102	6	442	0.0136	-12	c.-44 others(23): Show c.-4459_-4448delATTTATTTATTT		ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding					4242		chr17	TogoVar
ASGR2_chr17_7096326_7119822	7118481	GAGGAAGG others(5): Show GAGGAAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02486.hp2 HG02886.hp1 others(11): Show HG02027.hp1 HG02486.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03516.hp1 HG04228.hp2 NA18955.hp2 NA18971.hp2 NA18983.hp2 NA19005.hp1 NA19006.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0007	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 others(10): Show a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0002g0008 a0001c0001t0002g0024 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0094 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0002g0073 a0001c0004t0007g0176	14	432	0.0324	-12	c.-39 others(23): Show c.-3949_-3938delTCCTTCCTTCCT		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3660		chr17	TogoVar
ASH1L_chr1_155330268_155567803	155332458	GTGTATAT others(5): Show GTGTATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 NA19057.hp1 HG01981.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0126 a0001c0001t0001g0029 a0001c0001t0001g0126	2	182	0.0110	-12	c.51 others(23): Show c.5190_*5201delTATATATATACA		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding					2809		chr1	TogoVar

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