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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABCA8_chr17_68862289_68960392	68922194	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02451.hp1 HG03516.hp2 others(1): Show HG01496.hp1 HG02451.hp1 HG03516.hp2 NA19043.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0001c0003 a0020c0049 a0001c0001 a0001c0003 a0020c0049	a0001c0001t0001 a0001c0003t0001 a0020c0049t0001 a0001c0001t0001 a0001c0003t0001 a0020c0049t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0003t0001g0101 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0003t0001g0101 a0020c0049t0001g0093	4	274	0.0146	-16	c.150 others(31): Show c.1501+32_1501+47delAAAAAAAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944316	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp2 HG02922.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0127 a0001c0004t0001g0128 a0001c0002t0001g0127 a0001c0004t0001g0128	2	274	0.0073	-16	c.-5- others(31): Show c.-5-2293_-5-2278delTATATATATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69046875	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp1 HG01071.hp1 others(15): Show HG00544.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 NA19043.hp2	a0001 a0005 a0007 others(8): Show a0001 a0005 a0007 a0008 a0009 a0011 a0012 a0013 a0018 a0022 a0023	a0001c0001 a0005c0006 a0007c0009 others(8): Show a0001c0001 a0005c0006 a0007c0009 a0008c0020 a0009c0011 a0011c0015 a0012c0014 a0013c0016 a0018c0022 a0022c0018 a0023c0019	a0001c0001t0006 a0005c0006t0001 a0007c0009t0005 others(8): Show a0001c0001t0006 a0005c0006t0001 a0007c0009t0005 a0008c0020t0003 a0009c0011t0003 a0011c0015t0003 a0012c0014t0003 a0013c0016t0002 a0018c0022t0003 a0022c0018t0014 a0023c0019t0003	a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 others(14): Show a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0005c0006t0001g0292 a0005c0006t0001g0293 a0007c0009t0005g0010 a0007c0009t0005g0295 a0007c0009t0005g0296 a0007c0009t0005g0297 a0008c0020t0003g0054 a0009c0011t0003g0046 a0011c0015t0003g0049 a0012c0014t0003g0048 a0013c0016t0002g0050 a0018c0022t0003g0014 a0022c0018t0014g0298 a0023c0019t0003g0055	18	312	0.0577	-16	c.305 others(33): Show c.305-1555_305-1540delTATATATATATATATA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	3/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69061272	AAGTAAGA others(9): Show AAGTAAGAAGCCAATCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0038 a0003c0003t0003g0038	1	312	0.0032	-16	c.-43 others(25): Show c.-436_-421delGGATTGGCTTCTTACT	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding		346		chr17	TogoVar
ABCB10_chr1_229511582_229563707	229529295	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02015.hp1 NA18952.hp1 others(1): Show HG01934.hp2 HG02015.hp1 NA18952.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0165 a0001c0001t0001g0166 others(1): Show a0001c0001t0001g0134 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0260	4	284	0.0141	-16	c.164 others(33): Show c.1645+888_1645+903delTTTTTTTTTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	8/12			chr1	TogoVar
ABCB11_chr2_168915781_169036324	169016979	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0147 a0005c0021t0001g0147	1	306	0.0033	-16	c.77- others(29): Show c.77-196_77-181delGTGTGTGTGTGTGTGT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	2/27			chr2	TogoVar
ABCB1_chr7_87498017_87605884	87530790	AAAGAAAG others(9): Show AAAGAAAGCAAGAAAGC	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02615.hp2 HG02622.hp1 others(2): Show HG01952.hp1 HG02615.hp2 HG02622.hp1 HG03486.hp2 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0022 others(1): Show a0001c0001 a0001c0003 a0001c0022 a0003c0020	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0022t0001 a0003c0020t0001	a0001c0001t0001g0181 a0001c0001t0008g0055 a0001c0003t0001g0109 others(2): Show a0001c0001t0001g0181 a0001c0001t0008g0055 a0001c0003t0001g0109 a0001c0022t0001g0268 a0003c0020t0001g0042	5	352	0.0142	-16	c.268 others(33): Show c.2685+488_2685+503delGCTTTCTTGCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB1_chr7_87498017_87605884	87530830	CAAGAAAG others(9): Show CAAGAAAGCAAGAAAGA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	352	0.0028	-16	c.268 others(33): Show c.2685+448_2685+463delTCTTTCTTGCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20676161	TACACATA others(9): Show TACACATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0050 a0050	a0050c0074 a0050c0074	a0050c0074t0005 a0050c0074t0005	a0050c0074t0005g0127 a0050c0074t0005g0127	1	360	0.0028	-16	c.170 others(35): Show c.1708-5338_1708-5323delTACACACACACACACA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681058	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0090 a0002c0012t0001g0090	1	360	0.0028	-16	c.170 others(33): Show c.1708-393_1708-378delCTTTCTTTCTTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20683576	CAATGTAT others(9): Show CAATGTATAAAAAGCAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0047 a0047	a0047c0059 a0047c0059	a0047c0059t0003 a0047c0059t0003	a0047c0059t0003g0012 a0047c0059t0003g0012	1	360	0.0028	-16	c.186 others(35): Show c.1869+1913_1869+1928delTGTATAAAAAGCAAAA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB7_chrX_75046048_75161283	75094038	ATATATAT others(9): Show ATATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(47): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01256.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02080.hp1 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA19011.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0005c0008 a0001c0001 a0001c0006 a0005c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0022 a0001c0006t0002 a0005c0008t0017	a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 others(47): Show a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0115 a0001c0001t0004g0067 a0001c0001t0004g0078 a0001c0001t0004g0082 a0001c0001t0017g0086 a0001c0001t0022g0058 a0001c0006t0002g0046 a0005c0008t0017g0085	50	232	0.2155	-16	c.453 others(33): Show c.453+4888_453+4903delGATATATATATATATA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75104047	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19007.hp1 HG00621.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0022 a0001c0001t0001g0026	2	232	0.0086	-16	c.334 others(33): Show c.334-5002_334-4987delAAAAAAAAAAAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75115266	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0108 a0001c0001t0004g0109	2	232	0.0086	-16	c.169 others(31): Show c.169-451_169-436delTTTTTTTTTTTTTTTT	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15			chrX	TogoVar
ABCC10_chr6_43422541_43455427	43440596	GCTCACGC others(9): Show GCTCACGCCTGTAATCC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0111 a0002c0003t0005g0111	1	342	0.0029	-16	c.212 others(35): Show c.2128-1264_2128-1249delTCACGCCTGTAATCCC	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ABCC12_chr16_48075882_48160993	48156408	GAGGGGAG others(9): Show GAGGGGAGGGCAGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02809.hp2 others(4): Show HG02109.hp2 HG02630.hp1 HG02809.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp1 NA20300.hp1	a0007 a0009 a0024 a0007 a0009 a0024	a0007c0006 a0009c0009 a0024c0028 a0007c0006 a0009c0009 a0024c0028	a0007c0006t0001 a0009c0009t0001 a0024c0028t0002 a0007c0006t0001 a0009c0009t0001 a0024c0028t0002	a0007c0006t0001g0091 a0009c0009t0001g0003 a0009c0009t0001g0017 others(3): Show a0007c0006t0001g0091 a0009c0009t0001g0003 a0009c0009t0001g0017 a0009c0009t0001g0019 a0009c0009t0001g0020 a0024c0028t0002g0018	7	134	0.0522	-16	c.-90 others(25): Show c.-903_-888delACCCCTGCCCTCCCCT	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding		416		chr16	TogoVar
ABCC1_chr16_15944616_16148053	15951672	CTTTTTTC others(9): Show CTTTTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02615.hp2 others(6): Show HG02055.hp1 HG02055.hp2 HG02615.hp2 HG02886.hp2 HG02965.hp1 HG03098.hp1 HG03139.hp2 HG03516.hp2 NA19030.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0004 a0001c0008 others(5): Show a0001c0001 a0001c0004 a0001c0008 a0001c0017 a0001c0022 a0003c0024 a0003c0025 a0006c0019	a0001c0001t0003 a0001c0001t0008 a0001c0004t0002 others(6): Show a0001c0001t0003 a0001c0001t0008 a0001c0004t0002 a0001c0008t0009 a0001c0017t0002 a0001c0022t0009 a0003c0024t0021 a0003c0025t0006 a0006c0019t0010	a0001c0001t0003g0008 a0001c0001t0008g0002 a0001c0004t0002g0005 others(6): Show a0001c0001t0003g0008 a0001c0001t0008g0002 a0001c0004t0002g0005 a0001c0008t0009g0004 a0001c0017t0002g0007 a0001c0022t0009g0006 a0003c0024t0021g0003 a0003c0025t0006g0001 a0006c0019t0010g0009	9	249	0.0361	-16	c.48+ others(31): Show c.48+1885_48+1900delCTTTTTTTTTTCTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16040060	TTGTTTGT others(9): Show TTGTTTGTATGTATGTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02615.hp2 others(4): Show HG01109.hp2 HG02145.hp1 HG02615.hp2 HG02630.hp2 HG03471.hp1 HG03579.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0001c0040 others(1): Show a0001c0001 a0001c0008 a0001c0040 a0004c0039	a0001c0001t0008 a0001c0008t0009 a0001c0040t0015 others(1): Show a0001c0001t0008 a0001c0008t0009 a0001c0040t0015 a0004c0039t0006	a0001c0001t0008g0186 a0001c0008t0009g0004 a0001c0008t0009g0015 others(4): Show a0001c0001t0008g0186 a0001c0008t0009g0004 a0001c0008t0009g0015 a0001c0008t0009g0016 a0001c0008t0009g0020 a0001c0040t0015g0182 a0004c0039t0006g0217	7	249	0.0281	-16	c.809 others(33): Show c.809+3461_809+3476delTTGTATGTATGTATGT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	7/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16051971	CTGTAATC others(9): Show CTGTAATCCCAGCTACT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00642.hp2 others(25): Show HG00323.hp1 HG00639.hp2 HG00642.hp2 HG01081.hp2 HG01109.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp2 HG02080.hp2 HG02145.hp1 HG02148.hp1 HG02300.hp1 HG02615.hp2 HG02630.hp2 HG02895.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 NA18983.hp2 NA19002.hp2 NA19074.hp2 NA19082.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0005 a0001c0006 others(9): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0014 a0001c0028 a0001c0029 a0001c0030 a0001c0040 a0002c0011 a0004c0039 a0011c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0005t0002 a0001c0005t0003 a0001c0005t0022 a0001c0006t0002 a0001c0008t0009 a0001c0014t0007 a0001c0028t0002 a0001c0029t0002 a0001c0030t0001 a0001c0040t0015 a0002c0011t0003 a0004c0039t0006 a0011c0018t0003	a0001c0001t0001g0068 a0001c0001t0001g0125 a0001c0001t0001g0134 others(25): Show a0001c0001t0001g0068 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0003g0124 a0001c0001t0005g0101 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0008g0186 a0001c0001t0010g0120 a0001c0005t0002g0064 a0001c0005t0002g0067 a0001c0005t0002g0074 a0001c0005t0003g0153 a0001c0005t0022g0243 a0001c0006t0002g0053 a0001c0008t0009g0004 a0001c0008t0009g0015 a0001c0008t0009g0016 a0001c0008t0009g0020 a0001c0014t0007g0154 a0001c0028t0002g0066 a0001c0029t0002g0173 a0001c0030t0001g0181 a0001c0040t0015g0182 a0002c0011t0003g0126 a0002c0011t0003g0130 a0004c0039t0006g0217 a0011c0018t0003g0123	28	249	0.1125	-16	c.138 others(33): Show c.1381-750_1381-735delTAATCCCAGCTACTTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	10/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16132506	GGTTGTTT others(9): Show GGTTGTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20129.hp2 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0010 a0001c0001t0010 a0001c0002t0010	a0001c0001t0010g0087 a0001c0002t0010g0085 a0001c0001t0010g0087 a0001c0002t0010g0085	2	249	0.0080	-16	c.396 others(33): Show c.3966+572_3966+587delGTTGTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	27/30			chr16	TogoVar
ABCC2_chr10_99777640_99857594	99795738	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02735.hp1 HG02895.hp2 others(2): Show HG00558.hp2 HG02735.hp1 HG02895.hp2 HG02897.hp2 NA18953.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0027 a0009c0012 a0001c0001 a0001c0027 a0009c0012	a0001c0001t0001 a0001c0027t0001 a0009c0012t0001 a0001c0001t0001 a0001c0027t0001 a0009c0012t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0027t0001g0145 others(2): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0027t0001g0145 a0009c0012t0001g0217 a0009c0012t0001g0218	5	336	0.0149	-16	c.633 others(33): Show c.633-1308_633-1293delAAGAAAGAAAGAAAGA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	6/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814270	TACACACG others(9): Show TACACACGTATGTATAC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0030 a0001c0002t0003g0030	1	336	0.0030	-16	c.209 others(35): Show c.2094+1148_2094+1163delCGTATGTATACACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838183	CGGCTGGC others(9): Show CGGCTGGCCGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG03453.hp2 others(2): Show HG01496.hp2 HG02055.hp1 HG03453.hp2 HG03540.hp1 NA18906.hp1	a0004 a0013 a0004 a0013	a0004c0006 a0004c0029 a0013c0018 a0004c0006 a0004c0029 a0013c0018	a0004c0006t0001 a0004c0029t0001 a0013c0018t0001 a0004c0006t0001 a0004c0029t0001 a0013c0018t0001	a0004c0006t0001g0020 a0004c0006t0001g0036 a0004c0006t0001g0138 others(2): Show a0004c0006t0001g0020 a0004c0006t0001g0036 a0004c0006t0001g0138 a0004c0029t0001g0331 a0013c0018t0001g0007	5	336	0.0149	-16	c.361 others(35): Show c.3614+1899_3614+1914delGCCGGGCGGGGGGCTG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673978	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0145 a0001c0004t0001g0145	1	342	0.0029	-16	c.259 others(33): Show c.2599+364_2599+379delCTCTCTCTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674022	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	342	0.0029	-16	c.259 others(33): Show c.2599+368_2599+383delCTCTCTCTCTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674026	CTCTCTCT others(9): Show CTCTCTCTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	342	0.0029	-16	c.259 others(33): Show c.2599+372_2599+387delCTCTCTCTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674030	CTCTCTCT others(9): Show CTCTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03209.hp2 NA19043.hp1 HG00544.hp2 HG03209.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0001 a0002c0006t0001 a0001c0004t0001 a0002c0006t0001	a0001c0004t0001g0061 a0002c0006t0001g0001 a0002c0006t0001g0104 a0001c0004t0001g0061 a0002c0006t0001g0001 a0002c0006t0001g0104	3	342	0.0088	-16	c.259 others(33): Show c.2599+376_2599+391delCTCTTTCTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674034	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19240.hp2 NA19085.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0309 a0001c0014t0001g0171 a0001c0001t0001g0309 a0001c0014t0001g0171	2	342	0.0059	-16	c.259 others(33): Show c.2599+402_2599+417delCTTTCTTTCTTTCTTT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95029239	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02572.hp1 HG02630.hp1 others(7): Show HG01069.hp2 HG02572.hp1 HG02630.hp1 HG02965.hp2 HG03130.hp2 HG03540.hp1 HG03540.hp2 NA19043.hp2 NA19079.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0071 a0002c0072 a0003c0008	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0003t0002 a0001c0003t0005 a0001c0012t0016 a0001c0071t0009 a0002c0072t0002 a0003c0008t0010	a0001c0001t0002g0197 a0001c0001t0005g0044 a0001c0002t0002g0048 others(7): Show a0001c0001t0002g0197 a0001c0001t0005g0044 a0001c0002t0002g0048 a0001c0002t0002g0125 a0001c0003t0002g0023 a0001c0003t0005g0019 a0001c0012t0016g0089 a0001c0071t0009g0010 a0002c0072t0002g0041 a0003c0008t0010g0214	10	248	0.0403	-16	c.387 others(35): Show c.3870+5350_3870+5365delTTCTCTCTCTCTCTCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95061594	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19240.hp1 HG02922.hp1 NA19240.hp1	a0001 a0001	a0001c0045 a0001c0046 a0001c0045 a0001c0046	a0001c0045t0001 a0001c0046t0001 a0001c0045t0001 a0001c0046t0001	a0001c0045t0001g0129 a0001c0046t0001g0078 a0001c0045t0001g0129 a0001c0046t0001g0078	2	248	0.0081	-16	c.336 others(35): Show c.3366+1094_3366+1109delCACACACACACACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95064252	GTGTGTGT others(9): Show GTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01952.hp2 HG02129.hp2 others(9): Show HG00673.hp1 HG01952.hp2 HG02129.hp2 HG02280.hp1 HG02280.hp2 HG02976.hp2 HG03209.hp1 HG03540.hp1 HG04184.hp2 NA18979.hp1 NA19030.hp1 NA19088.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0001c0023 a0002c0004 a0005c0019	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 a0001c0012t0006 a0001c0012t0016 a0001c0023t0006 a0002c0004t0001 a0002c0004t0002 a0005c0019t0002	a0001c0001t0001g0240 a0001c0001t0008g0246 a0001c0002t0002g0178 others(9): Show a0001c0001t0001g0240 a0001c0001t0008g0246 a0001c0002t0002g0178 a0001c0003t0001g0020 a0001c0003t0002g0231 a0001c0009t0001g0128 a0001c0012t0006g0224 a0001c0012t0016g0089 a0001c0023t0006g0008 a0002c0004t0001g0153 a0002c0004t0002g0159 a0005c0019t0002g0223	12	248	0.0484	-16	c.321 others(35): Show c.3211-1409_3211-1394delTATATATACACACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	25/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95064254	GTGTGTGT others(9): Show GTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01169.hp2 HG02080.hp2 others(15): Show HG00558.hp1 HG01169.hp2 HG02080.hp2 HG02155.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02970.hp1 HG03710.hp1 HG04204.hp2 NA18522.hp2 NA18979.hp2 NA18985.hp2 NA19011.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0001c0023 a0002c0004 a0003c0008 a0004c0006 a0008c0032	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 a0001c0009t0001 a0001c0012t0001 a0001c0023t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0003c0008t0001 a0004c0006t0001 a0008c0032t0001	a0001c0001t0001g0084 a0001c0001t0001g0206 a0001c0001t0005g0044 others(15): Show a0001c0001t0001g0084 a0001c0001t0001g0206 a0001c0001t0005g0044 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0001g0238 a0001c0002t0002g0048 a0001c0003t0001g0029 a0001c0003t0005g0019 a0001c0009t0001g0047 a0001c0012t0001g0081 a0001c0023t0003g0073 a0002c0004t0001g0147 a0002c0004t0002g0193 a0002c0004t0003g0056 a0003c0008t0001g0099 a0004c0006t0001g0192 a0008c0032t0001g0004	18	248	0.0726	-16	c.321 others(35): Show c.3211-1411_3211-1396delTATATATATACACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	25/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95064256	GTGTGTAT others(9): Show GTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0164 a0001c0036t0001g0164	1	248	0.0040	-16	c.321 others(35): Show c.3211-1413_3211-1398delTATATATATATACACA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	25/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95167177	CATAAATA others(9): Show CATAAATAAATAAATAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG01346.hp1 others(5): Show HG01069.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG02109.hp2 HG02148.hp1 HG02738.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0010 a0001c0014 others(4): Show a0001c0001 a0001c0010 a0001c0014 a0002c0004 a0002c0005 a0002c0015 a0004c0030	a0001c0001t0008 a0001c0010t0007 a0001c0014t0007 others(4): Show a0001c0001t0008 a0001c0010t0007 a0001c0014t0007 a0002c0004t0002 a0002c0005t0002 a0002c0015t0007 a0004c0030t0002	a0001c0001t0008g0248 a0001c0010t0007g0143 a0001c0014t0007g0170 others(5): Show a0001c0001t0008g0248 a0001c0010t0007g0143 a0001c0014t0007g0170 a0002c0004t0002g0100 a0002c0005t0002g0146 a0002c0005t0002g0232 a0002c0015t0007g0071 a0004c0030t0002g0069	8	248	0.0323	-16	c.182 others(33): Show c.1825-826_1825-811delTTATTTATTTATTTAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	14/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196582	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03704.hp1 NA19030.hp2 others(1): Show HG02922.hp2 HG03704.hp1 NA19030.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0042 a0002c0020 a0001c0003 a0001c0042 a0002c0020	a0001c0003t0002 a0001c0042t0004 a0002c0020t0004 a0001c0003t0002 a0001c0042t0004 a0002c0020t0004	a0001c0003t0002g0076 a0001c0003t0002g0095 a0001c0042t0004g0040 others(1): Show a0001c0003t0002g0076 a0001c0003t0002g0095 a0001c0042t0004g0040 a0002c0020t0004g0057	4	248	0.0161	-16	c.116 others(35): Show c.1162-1661_1162-1646delTCCTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95218927	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01346.hp1 HG03209.hp1 others(1): Show HG01169.hp2 HG01346.hp1 HG03209.hp1 HG04199.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0010 a0004c0006 a0001c0003 a0001c0010 a0004c0006	a0001c0003t0001 a0001c0010t0007 a0004c0006t0001 a0001c0003t0001 a0001c0010t0007 a0004c0006t0001	a0001c0003t0001g0020 a0001c0003t0001g0029 a0001c0010t0007g0143 others(1): Show a0001c0003t0001g0020 a0001c0003t0001g0029 a0001c0010t0007g0143 a0004c0006t0001g0176	4	248	0.0161	-16	c.532 others(33): Show c.532-8162_532-8147delTTCTTTCTTTCTTTCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95225143	TCTCTCTC others(9): Show TCTCTCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0081 a0001c0012t0001g0081	1	248	0.0040	-16	c.531 others(33): Show c.531+9451_531+9466delTGTGTGAGAGAGAGAG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95225149	TCTCTCAC others(9): Show TCTCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0118 a0001c0024t0001g0118	1	248	0.0040	-16	c.531 others(33): Show c.531+9445_531+9460delTGTGTGTGTGTGAGAG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95225151	TCTCACAC others(9): Show TCTCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18994.hp2 NA18974.hp1 NA18994.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0063 a0003c0008t0001g0062 a0001c0001t0001g0063 a0003c0008t0001g0062	2	248	0.0081	-16	c.531 others(33): Show c.531+9443_531+9458delTGTGTGTGTGTGTGAG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244596	TGAAAGAA others(9): Show TGAAAGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	248	0.0040	-16	c.306 others(33): Show c.306+2363_306+2378delTTTCTTTCTTTCTTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95296169	CACACACA others(9): Show CACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp1 HG03139.hp1 others(3): Show HG02280.hp1 HG03098.hp1 HG03139.hp1 NA18522.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0001c0026 a0001c0045 others(2): Show a0001c0009 a0001c0026 a0001c0045 a0001c0054 a0002c0020	a0001c0009t0001 a0001c0009t0005 a0001c0026t0005 others(3): Show a0001c0009t0001 a0001c0009t0005 a0001c0026t0005 a0001c0045t0001 a0001c0054t0003 a0002c0020t0004	a0001c0009t0001g0128 a0001c0009t0005g0132 a0001c0026t0005g0133 others(3): Show a0001c0009t0001g0128 a0001c0009t0005g0132 a0001c0026t0005g0133 a0001c0045t0001g0129 a0001c0054t0003g0131 a0002c0020t0004g0130	6	248	0.0242	-16	c.74+ others(31): Show c.74+5056_74+5071delTTGTGTGTGTGTGTGT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	1/30			chr13	TogoVar
ABCC5_chr3_183914934_184022884	183922035	TAATAAAT others(9): Show TAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(23): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00673.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02523.hp2 HG03831.hp2 NA18612.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18960.hp1 NA18969.hp2 NA18981.hp2 NA18982.hp2 NA18993.hp2 NA18998.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 others(23): Show a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0094 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0151 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0182 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0198	26	378	0.0688	-16	c.421 others(33): Show c.4213-650_4213-635delTATTTATTTATTTATT	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	29/29			chr3	TogoVar
ABCC8_chr11_17387885_17481845	17437399	CAGAAGTT others(9): Show CAGAAGTTACGTGTCAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02451.hp1 others(8): Show HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0009 a0001c0010 a0001c0061 others(2): Show a0001c0009 a0001c0010 a0001c0061 a0001c0065 a0001c0068	a0001c0009t0001 a0001c0010t0001 a0001c0010t0002 others(3): Show a0001c0009t0001 a0001c0010t0001 a0001c0010t0002 a0001c0061t0001 a0001c0065t0001 a0001c0068t0001	a0001c0009t0001g0002 a0001c0009t0001g0050 a0001c0009t0001g0289 others(7): Show a0001c0009t0001g0002 a0001c0009t0001g0050 a0001c0009t0001g0289 a0001c0009t0001g0290 a0001c0009t0001g0291 a0001c0010t0001g0049 a0001c0010t0002g0005 a0001c0061t0001g0311 a0001c0065t0001g0288 a0001c0068t0001g0048	11	330	0.0333	-16	c.163 others(35): Show c.1631-5171_1631-5156delCTGACACGTAACTTCT	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	10/38			chr11	TogoVar
ABCC8_chr11_17387885_17481845	17450260	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0015 a0015	a0015c0037 a0015c0037	a0015c0037t0001 a0015c0037t0001	a0015c0037t0001g0104 a0015c0037t0001g0104	1	330	0.0030	-16	c.117 others(35): Show c.1177-1605_1177-1590delAAGAAAGAAAGAAAGA	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	7/38			chr11	TogoVar
ABCC9_chr12_21792389_21946426	21816036	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01993.hp2 HG02258.hp2 others(4): Show HG01106.hp2 HG01993.hp2 HG02258.hp2 HG02559.hp2 HG02630.hp1 HG03098.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0007 a0001c0001 a0001c0003 a0002c0007	a0001c0001t0001 a0001c0001t0013 a0001c0003t0009 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0003t0009 a0002c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0083 a0001c0001t0001g0134 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0083 a0001c0001t0001g0134 a0001c0001t0001g0197 a0001c0001t0013g0092 a0001c0003t0009g0209 a0002c0007t0001g0049	7	212	0.0330	-16	c.389 others(33): Show c.3893-159_3893-144delAAAAAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	33/39			chr12	TogoVar
ABCE1_chr4_145093311_145134524	145105046	ATAGAATT others(9): Show ATAGAATTACTGACTCT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	260	0.0039	-16	c.103 others(31): Show c.103+544_104-531delCTCTTAGAATTACTGA	ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
ABCE1_chr4_145093311_145134524	145117696	CTGCAGTA others(9): Show CTGCAGTATTACTGTAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00741.hp1 others(61): Show HG00099.hp2 HG00280.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02056.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02735.hp2 HG02809.hp2 HG03239.hp2 HG03492.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18993.hp1 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19062.hp2 NA19074.hp1 NA19086.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(29): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0133	64	260	0.2462	-16	c.922 others(31): Show c.922+284_922+299delGCAGTATTACTGTAGT	ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
ABCG1_chr21_42214140_42302244	42293287	GTACACAC others(9): Show GTACACACCACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp2 HG02647.hp1 others(2): Show HG01081.hp2 HG01255.hp2 HG02647.hp1 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0029	a0001c0001t0002g0095 a0001c0001t0003g0079 a0001c0001t0004g0269 others(2): Show a0001c0001t0002g0095 a0001c0001t0003g0079 a0001c0001t0004g0269 a0001c0001t0007g0019 a0001c0001t0029g0262	5	354	0.0141	-16	c.165 others(35): Show c.1654-1241_1654-1226delCACTACACACCACACA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42295333	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(123): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02523.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18987.hp1 NA18989.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19087.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0003	a0001c0001t0001g0200 a0001c0001t0002g0073 a0001c0001t0002g0075 others(120): Show a0001c0001t0001g0200 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0162 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0266 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0340 a0001c0001t0003g0002 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0163 a0001c0001t0003g0174 a0001c0001t0003g0187 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0217 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0232 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0261 a0001c0001t0003g0298 a0001c0001t0003g0346 a0001c0001t0005g0001 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0013 a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0030 a0001c0001t0005g0040 a0001c0001t0005g0051 a0001c0001t0005g0060 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0006g0053 a0001c0001t0007g0007 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0031 a0001c0001t0007g0055 a0001c0001t0010g0301 a0001c0001t0010g0302 a0001c0001t0010g0303 a0001c0001t0012g0140 a0001c0001t0012g0141 a0001c0001t0013g0295 a0001c0001t0013g0296 a0001c0001t0017g0005 a0001c0001t0021g0008 a0001c0001t0023g0023 a0001c0001t0025g0070 a0001c0003t0001g0250 a0001c0003t0003g0212 a0001c0003t0003g0259 a0001c0003t0005g0048 a0001c0003t0005g0052 a0001c0004t0003g0074 a0001c0004t0003g0126 a0001c0004t0003g0127	126	354	0.3559	-16	c.177 others(33): Show c.1772+702_1772+717delAAAAAAAAAAAAAAAA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG4_chr11_119144052_119167653	119147464	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00735.hp2 others(30): Show HG00099.hp1 HG00280.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01975.hp2 HG01993.hp2 HG02132.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02572.hp1 HG02717.hp2 HG03225.hp2 HG03688.hp1 HG04115.hp1 NA18939.hp2 NA18998.hp2 NA19058.hp1 NA19065.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0013 a0001c0001 a0003c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0003c0013t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0047 a0001c0001t0002g0058 a0001c0001t0003g0065 a0001c0001t0010g0032 a0003c0013t0002g0007	33	388	0.0851	-16	c.-19 others(27): Show c.-1911_-1896delGAAAGAAAGAAAGAAA	ABCG4	ENSG00000172350.10	transcript	ENST00000619701.5	protein_coding		1587		chr11	TogoVar

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