Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SHISA9_chr16_12896598_13245416	12970391	ATATATAT others(29): Show ATATATATATATACATATATATATATACACATATATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG03195.hp2 others(3): Show HG01884.hp1 HG02486.hp2 HG03195.hp2 HG03225.hp2 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0049 a0001c0001t0080 others(1): Show a0001c0001t0014 a0001c0001t0049 a0001c0001t0080 a0001c0002t0013	a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0052 others(3): Show a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0052 a0001c0001t0049g0074 a0001c0001t0080g0059 a0001c0002t0013g0124	6	214	0.0280	-36	c.691 others(55): Show c.691+53591_691+53626delTATATATATATACACATATATGTATA TATATATACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019862	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0184 a0001c0002t0009g0184	1	214	0.0047	-36	c.691 others(57): Show c.691+103049_691+103084delCTCCCTCCCTCCCTCCCTCCCTTC TTTCTTTCTTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019866	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	214	0.0047	-36	c.691 others(57): Show c.691+103053_691+103088delCTCCCTCCCTCCCTCCCTTCTTTC TTTCTTTCTTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019870	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0033 a0001c0001t0044g0033	1	214	0.0047	-36	c.691 others(57): Show c.691+103057_691+103092delCTCCCTCCCTCCCTTCTTTCTTTC TTTCTTTCTTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181280	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0110 a0001c0001t0024g0110	1	214	0.0047	-36	c.692 others(55): Show c.692-22112_692-22077delTATATATATATATATATATATATATA TATATACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHOX_chrX_625791_656584	628445	CTTTCTCT others(29): Show CTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02809.hp2 others(1): Show HG02109.hp1 HG02257.hp2 HG02809.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0096 a0001c0001t0169 others(1): Show a0001c0001t0087 a0001c0001t0096 a0001c0001t0169 a0001c0001t0195	a0001c0001t0087g0128 a0001c0001t0096g0121 a0001c0001t0169g0131 others(1): Show a0001c0001t0087g0128 a0001c0001t0096g0121 a0001c0001t0169g0131 a0001c0001t0195g0127	4	220	0.0182	-36	c.-24 others(47): Show c.-2452_-2417delTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTG TG	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2345		chrX	TogoVar
SHOX_chrX_625791_656584	655594	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG03516.hp2 others(1): Show HG02257.hp2 HG02451.hp2 HG03516.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0087 a0001c0001t0094 others(1): Show a0001c0001t0012 a0001c0001t0087 a0001c0001t0094 a0001c0001t0173	a0001c0001t0012g0190 a0001c0001t0087g0128 a0001c0001t0094g0004 others(1): Show a0001c0001t0012g0190 a0001c0001t0087g0128 a0001c0001t0094g0004 a0001c0001t0173g0006	4	220	0.0182	-36	c.10 others(49): Show c.10959_*10994delTCTCTCTCTCTCTCTCTCTCTATATATATATA TATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4011		chrX	TogoVar
SHOX_chrX_625791_656584	655596	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02165.hp1 HG02630.hp2 others(1): Show HG00423.hp2 HG02165.hp1 HG02630.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0131 a0001c0001t0167 others(1): Show a0001c0001t0012 a0001c0001t0131 a0001c0001t0167 a0001c0001t0180	a0001c0001t0012g0191 a0001c0001t0131g0164 a0001c0001t0167g0015 others(1): Show a0001c0001t0012g0191 a0001c0001t0131g0164 a0001c0001t0167g0015 a0001c0001t0180g0200	4	220	0.0182	-36	c.10 others(49): Show c.10961_*10996delTCTCTCTCTCTCTCTCTCTATATATATATATA TATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4013		chrX	TogoVar
SHOX_chrX_625791_656584	655598	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0163 a0001c0001t0150g0163	1	220	0.0046	-36	c.10 others(49): Show c.10963_*10998delTCTCTCTCTCTCTCTCTATATATATATATATA TATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4015		chrX	TogoVar
SHOX_chrX_625791_656584	655600	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03834.hp2 NA18954.hp1 HG02559.hp1 HG03834.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0122 a0001c0001t0197 a0001c0001t0065 a0001c0001t0122 a0001c0001t0197	a0001c0001t0065g0057 a0001c0001t0122g0189 a0001c0001t0197g0143 a0001c0001t0065g0057 a0001c0001t0122g0189 a0001c0001t0197g0143	3	220	0.0136	-36	c.10 others(49): Show c.10965_*11000delTCTCTCTCTCTCTCTATATATATATATATATA TATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4017		chrX	TogoVar
SHOX_chrX_625791_656584	655604	CTCTCTCT others(29): Show CTCTCTCTCTCTATATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0130 a0001c0001t0008g0130	1	220	0.0046	-36	c.10 others(49): Show c.10969_*11004delTCTCTCTCTCTATATATATATATATATATATA TATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4021		chrX	TogoVar
SHOX_chrX_625791_656584	655606	CTCTCTCT others(29): Show CTCTCTCTCTATATATATATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0064 a0001c0001t0124 a0001c0001t0023 a0001c0001t0064 a0001c0001t0124	a0001c0001t0023g0047 a0001c0001t0064g0170 a0001c0001t0124g0049 a0001c0001t0023g0047 a0001c0001t0064g0170 a0001c0001t0124g0049	3	220	0.0136	-36	c.10 others(49): Show c.10971_*11006delTCTCTCTCTATATATATATATATATATATATA TATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4023		chrX	TogoVar
SHQ1_chr3_72744277_72853445	72852084	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	222	0.0045	-36	c.-37 others(47): Show c.-3780_-3745delTATATATATATATAGAGAGAGAGAGAGAGAGAGA GA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3640		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852086	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0210 a0003c0003t0001g0210	1	222	0.0045	-36	c.-37 others(47): Show c.-3782_-3747delTATATATATATATATAGAGAGAGAGAGAGAGAGA GA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3642		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852088	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02895.hp2 others(6): Show HG02109.hp1 HG02257.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03471.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0065 a0002c0002t0001g0120 a0002c0002t0001g0123 a0002c0002t0001g0136 a0003c0003t0001g0211 a0003c0003t0001g0214 a0003c0003t0001g0215	9	222	0.0405	-36	c.-37 others(47): Show c.-3784_-3749delTATATATATATATATATAGAGAGAGAGAGAGAGA GA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3644		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852090	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	222	0.0045	-36	c.-37 others(47): Show c.-3786_-3751delTATATATATATATATATATAGAGAGAGAGAGAGA GA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3646		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852092	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	222	0.0045	-36	c.-37 others(47): Show c.-3788_-3753delTATATATATATATATATATATAGAGAGAGAGAGA GA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3648		chr3	TogoVar
SHROOM3_chr4_76430229_76788253	76651401	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01943.hp2 HG01952.hp1 others(3): Show HG01175.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02273.hp2	a0004 a0005 a0027 a0004 a0005 a0027	a0004c0004 a0005c0005 a0005c0038 others(1): Show a0004c0004 a0005c0005 a0005c0038 a0027c0050	a0004c0004t0001 a0005c0005t0004 a0005c0038t0004 others(1): Show a0004c0004t0001 a0005c0005t0004 a0005c0038t0004 a0027c0050t0001	a0004c0004t0001g0154 a0005c0005t0004g0104 a0005c0005t0004g0138 others(3): Show a0004c0004t0001g0154 a0005c0005t0004g0104 a0005c0005t0004g0138 a0005c0005t0004g0175 a0005c0038t0004g0143 a0027c0050t0001g0114	6	218	0.0275	-36	c.324 others(55): Show c.324-58745_324-58710delTATATATATATATATATATATATATA TATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG03195.hp1 others(3): Show HG01891.hp1 HG03041.hp1 HG03195.hp1 HG03579.hp2 NA18747.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0016 a0001c0002t0043	a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0002g0216 others(3): Show a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0002g0216 a0001c0002t0016g0138 a0001c0002t0016g0142 a0001c0002t0043g0137	6	292	0.0206	-36	c.173 others(53): Show c.173-2841_173-2806delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16			chr10	TogoVar
SHTN1_chr10_116876477_117010187	116983655	GATAGATA others(29): Show GATAGATAGATAGATAGATAGATAGATAGATAAATAC	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19066.hp1 NA18747.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0001g0109 a0001c0001t0001g0127	2	292	0.0069	-36	c.59- others(51): Show c.59-4383_59-4348delGTATTTATCTATCTATCTATCTATCTATCT ATCTAT	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	1/16			chr10	TogoVar
SIAH3_chr13_45772242_45856753	45789357	CATCTATC others(29): Show CATCTATCTATCTATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(232): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19083.hp1 NA19083.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0104 a0001c0001t0106 a0001c0001t0107 a0001c0001t0112 a0001c0001t0116 a0001c0002t0005 a0001c0003t0108 a0001c0004t0004	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 others(230): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0291 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0351 a0001c0001t0002g0076 a0001c0001t0002g0094 a0001c0001t0002g0132 a0001c0001t0002g0140 a0001c0001t0002g0163 a0001c0001t0002g0182 a0001c0001t0002g0199 a0001c0001t0002g0214 a0001c0001t0002g0236 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0268 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0315 a0001c0001t0002g0342 a0001c0001t0003g0022 a0001c0001t0003g0028 a0001c0001t0003g0056 a0001c0001t0003g0114 a0001c0001t0003g0138 a0001c0001t0003g0149 a0001c0001t0003g0172 a0001c0001t0003g0187 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0003g0284 a0001c0001t0003g0298 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0327 a0001c0001t0003g0330 a0001c0001t0003g0349 a0001c0001t0004g0064 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0084 a0001c0001t0004g0092 a0001c0001t0004g0131 a0001c0001t0004g0162 a0001c0001t0004g0168 a0001c0001t0004g0197 a0001c0001t0004g0241 a0001c0001t0004g0278 a0001c0001t0004g0283 a0001c0001t0004g0285 a0001c0001t0004g0322 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0087 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0005g0184 a0001c0001t0005g0267 a0001c0001t0005g0324 a0001c0001t0005g0333 a0001c0001t0006g0026 a0001c0001t0006g0108 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0124 a0001c0001t0006g0217 a0001c0001t0006g0232 a0001c0001t0006g0237 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0260 a0001c0001t0006g0323 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0007g0294 a0001c0001t0008g0031 a0001c0001t0008g0055 a0001c0001t0008g0106 a0001c0001t0008g0123 a0001c0001t0008g0202 a0001c0001t0008g0238 a0001c0001t0008g0251 a0001c0001t0008g0339 a0001c0001t0009g0029 a0001c0001t0009g0100 a0001c0001t0010g0104 a0001c0001t0010g0155 a0001c0001t0010g0259 a0001c0001t0012g0036 a0001c0001t0012g0041 a0001c0001t0013g0012 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0014g0133 a0001c0001t0014g0134 a0001c0001t0014g0218 a0001c0001t0014g0219 a0001c0001t0015g0061 a0001c0001t0015g0148 a0001c0001t0015g0310 a0001c0001t0015g0317 a0001c0001t0016g0027 a0001c0001t0016g0151 a0001c0001t0016g0224 a0001c0001t0018g0030 a0001c0001t0018g0099 a0001c0001t0018g0129 a0001c0001t0019g0014 a0001c0001t0019g0017 a0001c0001t0020g0046 a0001c0001t0021g0044 a0001c0001t0021g0111 a0001c0001t0022g0171 a0001c0001t0022g0186 a0001c0001t0023g0098 a0001c0001t0023g0102 a0001c0001t0024g0230 a0001c0001t0025g0011 a0001c0001t0025g0018 a0001c0001t0026g0300 a0001c0001t0026g0350 a0001c0001t0027g0051 a0001c0001t0027g0235 a0001c0001t0029g0040 a0001c0001t0029g0045 a0001c0001t0030g0302 a0001c0001t0032g0213 a0001c0001t0034g0130 a0001c0001t0034g0286 a0001c0001t0035g0112 a0001c0001t0035g0113 a0001c0001t0036g0146 a0001c0001t0036g0147 a0001c0001t0037g0049 a0001c0001t0038g0082 a0001c0001t0038g0121 a0001c0001t0040g0006 a0001c0001t0042g0008 a0001c0001t0044g0009 a0001c0001t0045g0019 a0001c0001t0046g0183 a0001c0001t0047g0292 a0001c0001t0048g0188 a0001c0001t0053g0225 a0001c0001t0056g0097 a0001c0001t0057g0065 a0001c0001t0058g0262 a0001c0001t0059g0068 a0001c0001t0060g0194 a0001c0001t0062g0157 a0001c0001t0064g0307 a0001c0001t0066g0127 a0001c0001t0067g0195 a0001c0001t0068g0128 a0001c0001t0069g0177 a0001c0001t0070g0198 a0001c0001t0071g0180 a0001c0001t0072g0169 a0001c0001t0073g0272 a0001c0001t0074g0340 a0001c0001t0075g0085 a0001c0001t0076g0208 a0001c0001t0077g0247 a0001c0001t0082g0345 a0001c0001t0083g0042 a0001c0001t0084g0053 a0001c0001t0085g0103 a0001c0001t0087g0233 a0001c0001t0088g0035 a0001c0001t0089g0295 a0001c0001t0090g0344 a0001c0001t0091g0343 a0001c0001t0092g0164 a0001c0001t0094g0101 a0001c0001t0095g0050 a0001c0001t0097g0088 a0001c0001t0098g0229 a0001c0001t0099g0189 a0001c0001t0100g0331 a0001c0001t0101g0069 a0001c0001t0104g0086 a0001c0001t0106g0096 a0001c0001t0107g0156 a0001c0001t0112g0356 a0001c0001t0116g0357 a0001c0002t0005g0176 a0001c0003t0108g0207 a0001c0004t0004g0212	235	364	0.6456	-36	c.136 others(53): Show c.136-5336_136-5301delAGATAGATAGATAGATAGATAGATAGAT AGATAGAT	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	402587	CCCGACCC others(29): Show CCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	242	0.0041	-36	c.32 others(47): Show c.3273_*3308delTGAGCGGGGCCGGGGGTCGGGGGTGAGCGGGGTC GG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3128		chr11	TogoVar
SIGIRR_chr11_400716_419999	411440	GTGCCCAG others(29): Show GTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	242	0.0041	-36	c.-15 others(55): Show c.-153-1449_-153-1414delTCCCCGACTGTATCCAGACATGGTCA GAGCTGGGCA	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	412526	GGGGGGTG others(29): Show GGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03579.hp1 HG02071.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0137 a0001c0001t0001g0149	2	242	0.0083	-36	c.-15 others(55): Show c.-154+2261_-154+2296delGACTGTATCCAGACATGGTCAGAGCT GGGCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGLEC12_chr19_51486227_51506800	51495225	ATGGATGG others(29): Show ATGGATGGATGGATGGATGGATGGACGGGTGGGTGGG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0001 a0010c0024t0001	a0010c0024t0001g0129 a0010c0024t0001g0129	1	432	0.0023	-36	c.159 others(55): Show c.1599+1619_1599+1654delCCCACCCACCCGTCCATCCATCCATC CATCCATCCA	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	7/7			chr19	TogoVar
SIK3_chr11_116838402_117103428	117101918	GTGGTGCA others(29): Show GTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0327 a0002c0003t0007g0327	1	366	0.0027	-36	c.-35 others(47): Show c.-3539_-3504delAGCCTCCCAAGTAGCTGGGATTACAGGCATGCAC CA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding		3491		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412603	GAAAGAAA others(29): Show GAAAGAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18998.hp1 NA19054.hp2 HG01106.hp2 NA18998.hp1 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0066 a0002c0002t0001 a0002c0002t0066	a0002c0002t0001g0129 a0002c0002t0001g0259 a0002c0002t0066g0062 a0002c0002t0001g0129 a0002c0002t0001g0259 a0002c0002t0066g0062	3	320	0.0094	-36	c.116 others(55): Show c.1167+8151_1167+8186delTTTCTTTCTTTCTTTCCTTCTTTCTT TCCTTTCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100412611	GGAAAGAA others(29): Show GGAAAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	320	0.0031	-36	c.116 others(55): Show c.1167+8143_1167+8178delTTCTTTCTTTTCTTTCTTTCTTTCCT TCTTTCTTTC	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100458006	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01109.hp2 others(21): Show HG00733.hp2 HG01074.hp2 HG01109.hp2 HG01175.hp1 HG01496.hp1 HG01516.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02257.hp2 HG02523.hp1 HG02630.hp2 HG02683.hp1 HG02738.hp2 HG02965.hp1 HG03139.hp1 HG03453.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp1 NA18980.hp2 NA19002.hp2 NA19054.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0001t0027 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0003t0003 a0002c0002t0001	a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0086 others(21): Show a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0086 a0001c0001t0002g0138 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0005g0032 a0001c0001t0005g0139 a0001c0001t0008g0026 a0001c0001t0008g0087 a0001c0001t0009g0027 a0001c0001t0023g0088 a0001c0001t0027g0029 a0001c0001t0027g0089 a0001c0001t0056g0025 a0001c0001t0057g0083 a0001c0001t0058g0084 a0001c0003t0003g0024 a0001c0003t0003g0137 a0002c0002t0001g0030 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0085	24	320	0.0750	-36	c.176 others(53): Show c.176-4198_176-4163delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	2/11			chr6	TogoVar
SIPA1L2_chr1_232392965_232635133	232415800	CAGTCAGT others(29): Show CAGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01070.hp1 others(18): Show HG00639.hp1 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01975.hp2 HG02004.hp1 HG02071.hp2 HG02273.hp2 HG02896.hp2 HG02897.hp2 HG03704.hp2 NA18945.hp2 NA18951.hp1 NA18966.hp1 NA18973.hp2 NA18978.hp2 NA19004.hp2 NA19009.hp1 NA19054.hp2 NA21309.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0009	a0001c0003 a0004c0010 a0004c0019 others(6): Show a0001c0003 a0004c0010 a0004c0019 a0004c0021 a0004c0032 a0005c0047 a0008c0014 a0009c0046 a0009c0068	a0001c0003t0007 a0004c0010t0001 a0004c0010t0002 others(9): Show a0001c0003t0007 a0004c0010t0001 a0004c0010t0002 a0004c0019t0001 a0004c0019t0002 a0004c0019t0003 a0004c0021t0001 a0004c0032t0002 a0005c0047t0003 a0008c0014t0012 a0009c0046t0001 a0009c0068t0003	a0001c0003t0007g0005 a0001c0003t0007g0006 a0004c0010t0001g0121 others(18): Show a0001c0003t0007g0005 a0001c0003t0007g0006 a0004c0010t0001g0121 a0004c0010t0001g0122 a0004c0010t0001g0123 a0004c0010t0001g0124 a0004c0010t0001g0127 a0004c0010t0001g0128 a0004c0010t0001g0204 a0004c0010t0002g0030 a0004c0019t0001g0224 a0004c0019t0002g0052 a0004c0019t0003g0255 a0004c0021t0001g0113 a0004c0021t0001g0126 a0004c0021t0001g0189 a0004c0032t0002g0056 a0005c0047t0003g0249 a0008c0014t0012g0234 a0009c0046t0001g0151 a0009c0068t0003g0239	21	292	0.0719	-36	c.463 others(53): Show c.4631-211_4631-176delCTGGGAGGGACAGTGGTGCCCGTGTTCT GACTGACT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232415952	CAGTCAGT others(29): Show CAGTCAGTCAGAACACGGGCACCACTGTCCCTCCCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02451.hp1 others(11): Show HG01884.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2	a0001 a0008 a0021 a0001 a0008 a0021	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0055 a0008c0014 a0021c0059	a0001c0001t0010 a0001c0002t0001 a0001c0003t0009 others(7): Show a0001c0001t0010 a0001c0002t0001 a0001c0003t0009 a0001c0003t0010 a0001c0003t0025 a0001c0003t0027 a0001c0055t0009 a0008c0014t0013 a0008c0014t0016 a0021c0059t0018	a0001c0001t0010g0285 a0001c0002t0001g0170 a0001c0002t0001g0173 others(11): Show a0001c0001t0010g0285 a0001c0002t0001g0170 a0001c0002t0001g0173 a0001c0003t0009g0165 a0001c0003t0009g0166 a0001c0003t0010g0277 a0001c0003t0010g0282 a0001c0003t0025g0286 a0001c0003t0027g0291 a0001c0055t0009g0169 a0008c0014t0013g0274 a0008c0014t0013g0279 a0008c0014t0016g0168 a0021c0059t0018g0079	14	292	0.0480	-36	c.463 others(53): Show c.4631-363_4631-328delCTGGGAGGGACAGTGGTGCCCGTGTTCT GACTGACT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	18/22			chr1	TogoVar
SIX5_chr19_45759785_45774252	45770204	CCAGCAGC others(29): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG03139.hp1 others(1): Show HG02486.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0001 a0004c0004t0003g0006 a0001c0001t0001g0001 a0004c0004t0003g0006	4	414	0.0097	-36	c.-13 others(47): Show c.-1396_-1361delCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TG	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SKAP1_chr17_48128442_48435214	48224029	AGAGAGAA others(29): Show AGAGAGAAGAAGGAGGAGGAGGAGGAGGAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	292	0.0034	-36	c.281 others(55): Show c.281-34565_281-34530delCCTCCTCCTCCTCCTCCTCCTCCTCC TTCTTCTCTC	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	4/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48433513	AGACCCAA others(29): Show AGACCCAATTCCAGCAAGATCTTAGCATCCTCTTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	292	0.0034	-36	c.-34 others(47): Show c.-3429_-3394delAAGAAGAGGATGCTAAGATCTTGCTGGAATTGGG TC	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding		3300		chr17	TogoVar
SKI_chr1_2223319_2315213	2269850	GGTGGTGC others(29): Show GGTGGTGCCTGTGGCTGGCGTGGGTCTGGCGGGTCTC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0211 a0001c0001t0006g0211	1	330	0.0030	-36	c.970 others(55): Show c.970-33092_970-33057delCGTGGTGCCTGTGGCTGGCGTGGGTC TGGCGGGTCT	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLA2_chr20_36607318_36651196	36609183	ACACACAC others(29): Show ACACACACACACGCACACACGCACACACGCACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 NA18972.hp2 HG02895.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0149 a0001c0001t0001g0168	2	360	0.0056	-36	c.46 others(47): Show c.4647_*4682delCGTGTGTGCGTGTGTGCGTGTGTGCGTGTGTGTG TG	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3134		chr20	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	376	0.0027	-36	c.177 others(53): Show c.177-3561_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01167.hp1 others(21): Show HG00438.hp2 HG00738.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01516.hp2 HG01993.hp2 HG02135.hp2 HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG02922.hp1 HG06807.hp1 NA18612.hp2 NA18968.hp1 NA18970.hp2 NA18983.hp1 NA18992.hp1 NA19011.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(21): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097	24	350	0.0686	-36	c.377 others(53): Show c.377+5917_377+5952delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842842	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	350	0.0029	-36	c.377 others(53): Show c.377+5861_377+5896delAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48240014	TATATATA others(29): Show TATATATATATATATCCATATATATATATATATATCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	266	0.0038	-36	c.121 others(55): Show c.1216-1486_1216-1451delCCATATATATATATATATATCCATAT ATATATATAT	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1061112	ACCGCACC others(29): Show ACCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0004 a0002c0026t0004	a0002c0026t0004g0086 a0002c0026t0004g0086	1	118	0.0085	-36	c.274 others(53): Show c.2740-697_2740-662delCGGGTGAGACGCAGGGGTCCCGCACGGC GGGTGCGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1061148	GCCGCACC others(29): Show GCCGCACCCGCCGTGCGGGACCCCTGCGTCTCACCCA	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03579.hp1 HG02273.hp2 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0010 a0002c0016t0001 a0002c0016t0010	a0002c0016t0001g0057 a0002c0016t0010g0082 a0002c0016t0001g0057 a0002c0016t0010g0082	2	118	0.0170	-36	c.274 others(53): Show c.2740-733_2740-698delTGGGTGAGACGCAGGGGTCCCGCACGGC GGGTGCGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1061274	ACCGCACC others(29): Show ACCGCACCTGCCGTGCAGGATCCCTGAGTCTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG02451.hp2 others(2): Show HG00639.hp1 HG00741.hp1 HG02451.hp2 HG02897.hp1 HG03654.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0017 a0002c0008 a0002c0023 others(2): Show a0001c0017 a0002c0008 a0002c0023 a0002c0025 a0004c0027	a0001c0017t0004 a0002c0008t0004 a0002c0023t0004 others(2): Show a0001c0017t0004 a0002c0008t0004 a0002c0023t0004 a0002c0025t0004 a0004c0027t0004	a0001c0017t0004g0021 a0002c0008t0004g0080 a0002c0023t0004g0010 others(2): Show a0001c0017t0004g0021 a0002c0008t0004g0080 a0002c0023t0004g0010 a0002c0025t0004g0061 a0004c0027t0004g0029	5	118	0.0424	-36	c.274 others(53): Show c.2740-859_2740-824delCGGGTGAGACTCAGGGATCCTGCACGGC AGGTGCGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1061290	AGGATCCC others(29): Show AGGATCCCTGAGTCTCACCCGCCGCACCCGCCGTGCG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03579.hp1 HG02273.hp2 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0010 a0002c0016t0001 a0002c0016t0010	a0002c0016t0001g0057 a0002c0016t0010g0082 a0002c0016t0001g0057 a0002c0016t0010g0082	2	118	0.0170	-36	c.274 others(53): Show c.2740-875_2740-840delCGCACGGCGGGTGCGGCGGGTGAGACTC AGGGATCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1061436	ACCGCACC others(29): Show ACCGCACCCGCCGTGCGGGATCCCTGAGTCTCACCCG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0022 a0001c0007t0005g0022	1	118	0.0085	-36	c.274 others(54): Show c.2740-1021_2740-986delCGGGTGAGACTCAGGGATCCCGCACGG CGGGTGCGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1061485	TGCGGGAT others(29): Show TGCGGGATCCCTGAGTCTCACCCGCCGCACCCGCCGC	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02723.hp1 HG03471.hp2 others(1): Show HG02273.hp2 HG02723.hp1 HG03471.hp2 HG03579.hp1	a0002 a0007 a0002 a0007	a0002c0016 a0002c0026 a0007c0033 a0002c0016 a0002c0026 a0007c0033	a0002c0016t0001 a0002c0016t0010 a0002c0026t0004 others(1): Show a0002c0016t0001 a0002c0016t0010 a0002c0026t0004 a0007c0033t0004	a0002c0016t0001g0057 a0002c0016t0010g0082 a0002c0026t0004g0086 others(1): Show a0002c0016t0001g0057 a0002c0016t0010g0082 a0002c0026t0004g0086 a0007c0033t0004g0072	4	118	0.0339	-36	c.274 others(55): Show c.2740-1070_2740-1035delGCGGCGGGTGCGGCGGGTGAGACTCA GGGATCCCGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	20/23			chr5	TogoVar
SLC15A2_chr3_121889401_121949188	121925747	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18989.hp1 NA18998.hp1 NA18950.hp1 NA18989.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0067 a0002c0002t0001g0186 a0002c0002t0001g0187	3	338	0.0089	-36	c.112 others(53): Show c.1124+716_1124+751delTATATATATATATATATATATATATATA TATATAAA	SLC15A2	ENSG00000163406.11	transcript	ENST00000489711.6	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC16A7_chr12_59591029_59794841	59671757	GTATATGT others(29): Show GTATATGTATATATGTGTATATATATGTGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0106 a0002c0002t0003g0106	1	260	0.0039	-36	c.-31 others(55): Show c.-31+16587_-31+16622delATATATGTGTATATATATGTGTATAT GTATATATGT	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC16A9_chr10_59645764_59714850	59681429	GTATATGA others(29): Show GTATATGATGTATATGTATATGTGTATGTGTATGTGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02257.hp2 HG02451.hp1 others(1): Show HG00280.hp1 HG02257.hp2 HG02451.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0107 a0001c0001t0018g0065 a0001c0001t0018g0066 others(1): Show a0001c0001t0003g0107 a0001c0001t0018g0065 a0001c0001t0018g0066 a0001c0001t0018g0067	4	352	0.0114	-36	c.196 others(53): Show c.196+2631_196+2666delACACATACACATACACATATACATATAC ATCATATA	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC17A6_chr11_22333381_22384503	22339115	TGTTATAT others(29): Show TGTTATATATATATGTTATATATATATGTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp1 HG01975.hp2 others(15): Show HG01070.hp2 HG01123.hp1 HG01975.hp2 HG02300.hp2 HG02572.hp1 HG02698.hp2 NA18952.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18992.hp2 NA19001.hp2 NA19060.hp1 NA19079.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0223 others(15): Show a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0223 a0001c0001t0001g0314 a0001c0001t0002g0009 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0149 a0001c0001t0002g0158 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0004g0031 a0001c0001t0004g0099 a0001c0001t0004g0188 a0001c0001t0006g0136 a0001c0001t0007g0094	18	450	0.0400	-36	c.86+ others(49): Show c.86+526_86+561delATATATAGTTATATATATATGTTATATATATA TGTT	SLC17A6	ENSG00000091664.9	transcript	ENST00000263160.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar

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