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
SHC2_chr19_411589_466033	427852	GGAAGGGG others(19): Show GGAAGGGGGAACTGCACACGGCACAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG03579.hp2 others(1): Show HG02622.hp1 HG02622.hp2 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0017 others(1): Show a0001c0001 a0001c0013 a0001c0017 a0001c0018	a0001c0001t0016 a0001c0013t0005 a0001c0017t0005 others(1): Show a0001c0001t0016 a0001c0013t0005 a0001c0017t0005 a0001c0018t0006	a0001c0001t0016g0070 a0001c0013t0005g0007 a0001c0017t0005g0056 others(1): Show a0001c0001t0016g0070 a0001c0013t0005g0007 a0001c0017t0005g0056 a0001c0018t0006g0179	4	212	0.0189	-26	c.117 others(45): Show c.1175-2647_1175-2622delTCTGTGCCGTGTGCAGTTCCCCCTTC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHC4_chr15_48818741_48968919	48896261	CCTCCCTC others(19): Show CCTCCCTCTCCCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	384	0.0026	-26	c.657 others(43): Show c.657-5476_657-5451delAGAGAGAGAGAGAGAGGGAGAGGGAG	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01106.hp1 others(17): Show HG00280.hp2 HG00544.hp1 HG01106.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp1 HG02129.hp2 HG02280.hp1 HG02602.hp1 HG02723.hp2 HG02818.hp1 HG03486.hp2 HG03579.hp2 HG03669.hp2 HG03927.hp2 HG03942.hp2 NA18981.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0006c0007	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0006c0007t0001	a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0140 others(17): Show a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0140 a0001c0001t0001g0188 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0290 a0002c0002t0001g0042 a0004c0004t0001g0130 a0006c0007t0001g0301	20	302	0.0662	-26	c.118 others(45): Show c.1182+2571_1182+2596delTATATATATATATATATATATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952173	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	302	0.0033	-26	c.405 others(41): Show c.405+530_405+555delATATATATTTTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952175	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0130 a0004c0004t0001g0130	1	302	0.0033	-26	c.405 others(41): Show c.405+528_405+553delATATATATATTTTTTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952179	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0051 a0005c0005t0001g0051	1	302	0.0033	-26	c.405 others(41): Show c.405+524_405+549delATATATATATATATTTTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952181	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03942.hp2 NA18952.hp1 others(1): Show HG01978.hp2 HG03942.hp2 NA18952.hp1 NA18955.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0042 others(1): Show a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0042 a0005c0005t0001g0050	4	302	0.0133	-26	c.405 others(41): Show c.405+522_405+547delATATATATATATATATTTTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952183	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0297 a0006c0007t0001g0297	1	302	0.0033	-26	c.405 others(41): Show c.405+520_405+545delATATATATATATATATATTTTTTTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHISA7_chr19_55423740_55448300	55434850	CGTGTGTG others(19): Show CGTGTGTGTATATGTGGTGTGTGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	372	0.0027	-26	c.977 others(43): Show c.977-1080_977-1055delACCACACACACCACATATACACACAC	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3			chr19	TogoVar
SHISA9_chr16_12896598_13245416	12943274	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0129 a0001c0001t0038g0129	1	214	0.0047	-26	c.691 others(45): Show c.691+26491_691+26516delTGTGTGTGTGTGTGTGTGTGTGTGTG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943310	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp2 HG02965.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0023 a0001c0001t0020 a0001c0001t0023	a0001c0001t0020g0047 a0001c0001t0023g0119 a0001c0001t0020g0047 a0001c0001t0023g0119	2	214	0.0094	-26	c.691 others(45): Show c.691+26497_691+26522delTGTGTGTGTGTGTGTGTGTGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943312	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0165 a0001c0001t0072g0165	1	214	0.0047	-26	c.691 others(45): Show c.691+26499_691+26524delTGTGTGTGTGTGTGTGTGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943314	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0059 a0001c0001t0080g0059	1	214	0.0047	-26	c.691 others(45): Show c.691+26501_691+26526delTGTGTGTGTGTGTGTGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943318	TGTGTGTG others(19): Show TGTGTGTGTGTGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp1 HG02970.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0062 a0001c0001t0005 a0001c0002t0062	a0001c0001t0005g0049 a0001c0002t0062g0182 a0001c0001t0005g0049 a0001c0002t0062g0182	2	214	0.0094	-26	c.691 others(45): Show c.691+26505_691+26530delTGTGTGTGTGTGAGAGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943320	TGTGTGTG others(19): Show TGTGTGTGTGTGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03195.hp2 HG03225.hp1 others(1): Show HG02486.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0013 a0001c0001t0014 a0001c0002t0013	a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0052 others(1): Show a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0052 a0001c0002t0013g0125	4	214	0.0187	-26	c.691 others(45): Show c.691+26507_691+26532delTGTGTGTGTGAGAGAGAGAGAGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13198202	ATGTGTGT others(19): Show ATGTGTGTATATGCATACATATATACT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01167.hp1 others(22): Show HG00280.hp2 HG01070.hp2 HG01167.hp1 HG01891.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02132.hp1 HG02145.hp1 HG02486.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 NA18971.hp1 NA18971.hp2 NA19060.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0032 a0001c0001t0050 a0001c0001t0053 a0001c0001t0054 a0001c0001t0065 a0001c0001t0068 a0001c0001t0079 a0001c0001t0097 a0001c0002t0060 a0004c0007t0095	a0001c0001t0001g0011 a0001c0001t0001g0089 a0001c0001t0001g0197 others(22): Show a0001c0001t0001g0011 a0001c0001t0001g0089 a0001c0001t0001g0197 a0001c0001t0002g0115 a0001c0001t0002g0177 a0001c0001t0003g0081 a0001c0001t0004g0041 a0001c0001t0011g0126 a0001c0001t0013g0122 a0001c0001t0015g0032 a0001c0001t0020g0047 a0001c0001t0022g0162 a0001c0001t0023g0196 a0001c0001t0028g0137 a0001c0001t0028g0172 a0001c0001t0032g0062 a0001c0001t0050g0043 a0001c0001t0053g0055 a0001c0001t0054g0020 a0001c0001t0065g0056 a0001c0001t0068g0044 a0001c0001t0079g0164 a0001c0001t0097g0105 a0001c0002t0060g0183 a0004c0007t0095g0104	25	214	0.1168	-26	c.692 others(43): Show c.692-5058_692-5033delGTGTATATGCATACATATATACTTGT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13230309	AAAGGATT others(19): Show AAAGGATTGGAGGAGGTGAAACAAGGC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG03540.hp2 others(1): Show HG02257.hp2 HG02559.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0065 a0001c0001t0066 others(1): Show a0001c0001t0039 a0001c0001t0065 a0001c0001t0066 a0001c0001t0080	a0001c0001t0039g0158 a0001c0001t0065g0056 a0001c0001t0066g0076 others(1): Show a0001c0001t0039g0158 a0001c0001t0065g0056 a0001c0001t0066g0076 a0001c0001t0080g0059	4	214	0.0187	-26	c.896 others(43): Show c.896-4715_896-4690delTTGGAGGAGGTGAAACAAGGCAAGGA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHKBP1_chr19_40571873_40596397	40589180	TGAGGACA others(19): Show TGAGGACAGTCCTGTCCAACAGGGAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp1 others(186): Show HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0002 a0001c0003 a0001c0005 others(10): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0017 a0002c0008 a0003c0009 a0005c0018 a0006c0020 a0008c0023	a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 others(10): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 a0001c0017t0001 a0002c0008t0001 a0003c0009t0001 a0005c0018t0001 a0006c0020t0001 a0008c0023t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0008 others(111): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0003t0001g0001 a0001c0003t0001g0015 a0001c0003t0001g0047 a0001c0003t0001g0050 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0200 a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0209 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0005t0001g0001 a0001c0005t0001g0015 a0001c0005t0001g0050 a0001c0006t0001g0035 a0001c0006t0001g0082 a0001c0006t0001g0084 a0001c0007t0001g0161 a0001c0007t0001g0183 a0001c0007t0001g0217 a0001c0010t0001g0207 a0001c0013t0001g0155 a0001c0017t0001g0194 a0002c0008t0001g0052 a0003c0009t0001g0003 a0003c0009t0001g0120 a0005c0018t0001g0134 a0006c0020t0001g0003 a0008c0023t0001g0171	189	392	0.4821	-26	c.158 others(41): Show c.1589+33_1589+58delACAGTCCTGTCCAACAGGGAGGGAGG	SHKBP1	ENSG00000160410.15	transcript	ENST00000291842.10	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
SHLD1_chr20_5745401_5869395	5817416	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG02818.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0006 a0002c0004t0005 a0001c0002t0006 a0002c0004t0005	a0001c0002t0006g0083 a0002c0004t0005g0265 a0001c0002t0006g0083 a0002c0004t0005g0265	2	328	0.0061	-26	c.178 others(45): Show c.178+44375_178+44400delCTCTCTCTCTCTCTCTGTGTGTGTGT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5817418	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG02486.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0033 a0001c0002t0001g0301 a0001c0001t0001g0033 a0001c0002t0001g0301	2	328	0.0061	-26	c.178 others(45): Show c.178+44377_178+44402delCTCTCTCTCTCTCTGTGTGTGTGTGT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOX2_chr3_158090905_158111420	158096889	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG03239.hp2 HG04184.hp2 others(1): Show HG00733.hp1 HG03239.hp2 HG04184.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0054 a0001c0001t0019g0118 a0001c0001t0019g0229 a0001c0001t0019g0054 a0001c0001t0019g0118 a0001c0001t0019g0229	4	380	0.0105	-26	c.11 others(37): Show c.1112_*1137delATATATATATATATATATATATATAT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1112		chr3	TogoVar
SHOX_chrX_625791_656584	655600	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0086 a0001c0001t0161g0086	1	220	0.0046	-26	c.10 others(39): Show c.10965_*10990delTCTCTCTCTCTCTCTATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4017		chrX	TogoVar
SHOX_chrX_625791_656584	655604	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 NA18969.hp2 NA19054.hp1 others(1): Show HG01123.hp1 NA18969.hp2 NA19054.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0044 a0001c0001t0001 a0001c0001t0004 a0001c0001t0044	a0001c0001t0001g0007 a0001c0001t0004g0021 a0001c0001t0004g0022 others(1): Show a0001c0001t0001g0007 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0044g0020	4	220	0.0182	-26	c.10 others(39): Show c.10969_*10994delTCTCTCTCTCTATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4021		chrX	TogoVar
SHOX_chrX_625791_656584	655606	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00733.hp1 HG00544.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0139 a0001c0001t0075 a0001c0001t0139	a0001c0001t0075g0141 a0001c0001t0139g0085 a0001c0001t0075g0141 a0001c0001t0139g0085	2	220	0.0091	-26	c.10 others(39): Show c.10971_*10996delTCTCTCTCTATATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4023		chrX	TogoVar
SHOX_chrX_625791_656584	655608	CTCTCTCT others(19): Show CTCTCTCTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0166 a0001c0001t0166	a0001c0001t0166g0077 a0001c0001t0166g0077	1	220	0.0046	-26	c.10 others(39): Show c.10973_*10998delTCTCTCTATATATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4025		chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76651401	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02895.hp2 HG02896.hp1 HG01943.hp1 HG02895.hp2 HG02896.hp1	a0001 a0005 a0001 a0005	a0001c0017 a0005c0005 a0001c0017 a0005c0005	a0001c0017t0011 a0005c0005t0004 a0001c0017t0011 a0005c0005t0004	a0001c0017t0011g0217 a0001c0017t0011g0218 a0005c0005t0004g0050 a0001c0017t0011g0217 a0001c0017t0011g0218 a0005c0005t0004g0050	3	218	0.0138	-26	c.324 others(45): Show c.324-58735_324-58710delTATATATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735854	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp1 HG02258.hp1 HG03516.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0013 a0009c0011t0034 a0009c0011t0013 a0009c0011t0034	a0009c0011t0013g0031 a0009c0011t0034g0144 a0009c0011t0013g0031 a0009c0011t0034g0144	2	218	0.0092	-26	c.588 others(43): Show c.588-2905_588-2880delAAAAAAAAAAAAAATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735856	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02630.hp1 HG03540.hp1 HG01070.hp2 HG02630.hp1 HG03540.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0019 a0004c0004 a0010c0009 a0001c0019 a0004c0004 a0010c0009	a0001c0019t0001 a0004c0004t0001 a0010c0009t0024 a0001c0019t0001 a0004c0004t0001 a0010c0009t0024	a0001c0019t0001g0030 a0004c0004t0001g0135 a0010c0009t0024g0049 a0001c0019t0001g0030 a0004c0004t0001g0135 a0010c0009t0024g0049	3	218	0.0138	-26	c.588 others(43): Show c.588-2903_588-2878delAAAAAAAAAAAATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735858	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01175.hp1 others(10): Show HG00642.hp2 HG00735.hp2 HG01175.hp1 HG01256.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02273.hp2 HG02647.hp1 HG03017.hp2 HG04228.hp2 NA20805.hp1	a0004 a0005 a0010 a0004 a0005 a0010	a0004c0004 a0004c0008 a0005c0005 others(2): Show a0004c0004 a0004c0008 a0005c0005 a0005c0038 a0010c0009	a0004c0004t0001 a0004c0004t0032 a0004c0008t0001 others(4): Show a0004c0004t0001 a0004c0004t0032 a0004c0008t0001 a0005c0005t0001 a0005c0005t0004 a0005c0038t0004 a0010c0009t0001	a0004c0004t0001g0154 a0004c0004t0032g0208 a0004c0008t0001g0051 others(10): Show a0004c0004t0001g0154 a0004c0004t0032g0208 a0004c0008t0001g0051 a0004c0008t0001g0069 a0004c0008t0001g0070 a0004c0008t0001g0189 a0005c0005t0001g0062 a0005c0005t0004g0050 a0005c0005t0004g0104 a0005c0005t0004g0138 a0005c0005t0004g0175 a0005c0038t0004g0143 a0010c0009t0001g0005	13	218	0.0596	-26	c.588 others(43): Show c.588-2901_588-2876delAAAAAAAAAATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76735862	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0005 a0013c0018t0005	a0013c0018t0005g0092 a0013c0018t0005g0092	1	218	0.0046	-26	c.588 others(43): Show c.588-2897_588-2872delAAAAAATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM4_chrX_50581796_50819194	50646527	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	175	0.0057	-26	c.270 others(43): Show c.270-8245_270-8220delACACACACACACACACACACACACAC	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	2/8			chrX	TogoVar
SHROOM4_chrX_50581796_50819194	50795120	TATATATG others(19): Show TATATATGATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG03579.hp1 HG01884.hp1 HG02486.hp1 HG03579.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0103 a0006c0006t0005g0140 a0006c0006t0005g0141 a0006c0006t0005g0103 a0006c0006t0005g0140 a0006c0006t0005g0141	3	175	0.0171	-26	c.117 others(45): Show c.117+18756_117+18781delCATATATATATATATATATCATATAT	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	1/8			chrX	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03098.hp2 NA18993.hp1 others(2): Show HG02897.hp2 HG03098.hp2 NA18993.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0039 others(1): Show a0001c0001t0003 a0001c0001t0024 a0001c0001t0039 a0001c0001t0061	a0001c0001t0003g0219 a0001c0001t0003g0287 a0001c0001t0024g0152 others(2): Show a0001c0001t0003g0219 a0001c0001t0003g0287 a0001c0001t0024g0152 a0001c0001t0039g0158 a0001c0001t0061g0104	5	292	0.0171	-26	c.173 others(43): Show c.173-2831_173-2806delAAAAAAAAAAAAAAAAAAAAAAAAAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16			chr10	TogoVar
SIGLEC10_chr19_51405020_51422642	51405381	CTTTCTTC others(19): Show CTTTCTTCTTTTTCTTTTTCTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0114 a0004c0004t0003g0114	1	420	0.0024	-26	c.56 others(37): Show c.5692_*5717delAAAAAAAGAAAAAGAAAAAGAAGAAA	SIGLEC10	ENSG00000142512.15	transcript	ENST00000339313.10	protein_coding		4638		chr19	TogoVar
SIGLEC5_chr19_51605960_51635401	51628600	CGGGTGTA others(19): Show CGGGTGTACGTACATGTGTGCGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02129.hp1 NA18747.hp1 others(9): Show HG00609.hp1 HG02129.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp2 NA18974.hp2 NA18993.hp2 NA19001.hp2 NA19054.hp1 NA19074.hp1 NA19087.hp1 NA19091.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0020	a0001c0022 a0002c0002 a0005c0024 others(1): Show a0001c0022 a0002c0002 a0005c0024 a0020c0054	a0001c0022t0001 a0002c0002t0001 a0005c0024t0003 others(1): Show a0001c0022t0001 a0002c0002t0001 a0005c0024t0003 a0020c0054t0001	a0001c0022t0001g0025 a0002c0002t0001g0130 a0002c0002t0001g0157 others(8): Show a0001c0022t0001g0025 a0002c0002t0001g0130 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0207 a0005c0024t0003g0061 a0005c0024t0003g0062 a0020c0054t0001g0319	12	414	0.0290	-26	c.739 others(41): Show c.739+412_739+437delACACACGCACACATGTACGTACACCC	SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding	4/8			chr19	TogoVar
SIK3_chr11_116838402_117103428	116965734	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01099.hp2 others(29): Show HG00438.hp2 HG00738.hp2 HG01099.hp2 HG01261.hp1 HG02027.hp1 HG02074.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02723.hp1 HG02922.hp2 HG03195.hp1 HG03579.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18960.hp1 NA18966.hp1 NA18970.hp1 NA18974.hp1 NA18979.hp1 NA18998.hp2 NA19000.hp1 NA19062.hp1 NA19070.hp2 NA19090.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0018	a0001c0001 a0001c0002 a0001c0013 others(4): Show a0001c0001 a0001c0002 a0001c0013 a0002c0004 a0006c0008 a0008c0025 a0018c0023	a0001c0001t0002 a0001c0002t0003 a0001c0002t0029 others(5): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0029 a0001c0013t0002 a0002c0004t0006 a0006c0008t0013 a0008c0025t0003 a0018c0023t0003	a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0002t0003g0001 others(29): Show a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0004 a0001c0002t0003g0007 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0356 a0001c0002t0029g0298 a0001c0013t0002g0280 a0002c0004t0006g0294 a0006c0008t0013g0277 a0008c0025t0003g0302 a0018c0023t0003g0289	32	366	0.0874	-26	c.274 others(43): Show c.274-8696_274-8671delATATATATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIM1_chr6_100380009_100469921	100412611	GGAAAGAA others(19): Show GGAAAGAAAGAAGGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19081.hp2 NA18989.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0080 a0002c0002t0001g0069 a0002c0002t0001g0080	2	320	0.0063	-26	c.116 others(45): Show c.1167+8153_1167+8178delTCTTTCTTTCTTTCCTTCTTTCTTTC	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100458006	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	320	0.0031	-26	c.176 others(43): Show c.176-4188_176-4163delGAGAGAGAGAGAGAGAGAGAGAGAGA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	2/11			chr6	TogoVar
SIN3B_chr19_16824398_16885349	16870245	TCTCACGT others(19): Show TCTCACGTACCCCTCGCCCAGGCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	372	0.0027	-26	c.242 others(43): Show c.2422+173_2422+198delCACGTACCCCTCGCCCAGGCTCCCCT	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIN3B_chr19_16824398_16885349	16879650	GTCCCAGC others(19): Show GTCCCAGCCGCCACCCAAGGAGCCCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	372	0.0027	-26	c.92 others(35): Show c.927_*952delCAGCCGCCACCCAAGGAGCCCCATCC	SIN3B	ENSG00000127511.10	transcript	ENST00000248054.10	protein_coding	19/19	927	INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L1_chr14_71315476_71746209	71544020	TACGCACA others(19): Show TACGCACATGTATGTATATACACACGC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp1 HG01928.hp2 others(1): Show HG01256.hp1 HG01361.hp1 HG01928.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0001 a0001c0001t0002 a0001c0011t0001	a0001c0001t0002g0013 a0001c0001t0002g0061 a0001c0001t0002g0062 others(1): Show a0001c0001t0002g0013 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0011t0001g0119	4	174	0.0230	-26	c.-30 others(47): Show c.-303+14705_-303+14730delGCACATGTATGTATATACACACGC AC	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L1_chr14_71315476_71746209	71603944	TATATATT others(19): Show TATATATTTATATATATTTATATATAG	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0014 a0001c0009t0001g0014	1	174	0.0058	-26	c.149 others(47): Show c.1498+14600_1498+14625delGATATATTTATATATATTTATATA TA	SIPA1L1	ENSG00000197555.10	transcript	ENST00000381232.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
SIPA1L3_chr19_37902208_38213369	37941071	TACACACA others(19): Show TACACACACACACACATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01934.hp2 HG02148.hp2 HG01361.hp1 HG01934.hp2 HG02148.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0018 a0002c0002 a0010c0018	a0002c0002t0001 a0010c0018t0016 a0002c0002t0001 a0010c0018t0016	a0002c0002t0001g0143 a0002c0002t0001g0145 a0010c0018t0016g0154 a0002c0002t0001g0143 a0002c0002t0001g0145 a0010c0018t0016g0154	3	164	0.0183	-26	c.-37 others(47): Show c.-379+33729_-379+33754delTACACACACACACACACACACACA CA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPD_chr20_1529251_1562705	1562172	TCTTGTTA others(19): Show TCTTGTTAGCACTTTCTTACTTTCTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	390	0.0026	-26	c.-45 others(37): Show c.-4545_-4520delCTAGAAAGTAAGAAAGTGCTAACAAG	SIRPD	ENSG00000125900.13	transcript	ENST00000381623.4	protein_coding		4468		chr20	TogoVar
SIRT4_chr12_120297321_120318249	120304819	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01981.hp1 HG01069.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0080 a0001c0001t0001g0081	2	380	0.0053	-26	c.497 others(41): Show c.497+763_497+788delATATATATATATATATTTTTTTTTTT	SIRT4	ENSG00000089163.4	transcript	ENST00000202967.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
SIX3_chr2_44936702_44951071	44950153	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18957.hp1 NA18940.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0023 a0001c0001t0024	a0001c0001t0023g0003 a0001c0001t0024g0003 a0001c0001t0023g0003 a0001c0001t0024g0003	2	448	0.0045	-26	c.53 others(37): Show c.5394_*5419delACACACACACACACACACACACACAC	SIX3	ENSG00000138083.5	transcript	ENST00000260653.5	protein_coding		4083		chr2	TogoVar
SIX6_chr14_60504146_60517850	60512033	ATATGTAT others(19): Show ATATGTATGTACCTATACAAACATATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG03041.hp1 HG01346.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	2	392	0.0051	-26	c.79 others(35): Show c.790_*815delTACCTATACAAACATATGTATGTATG	SIX6	ENSG00000184302.7	transcript	ENST00000327720.6	protein_coding	2/2	790	INFO_REALIGN_3_PRIME	chr14	TogoVar
SI_chr3_164973898_165083496	165073170	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(92): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00673.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01433.hp2 HG01515.hp2 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03834.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19083.hp2 NA19086.hp2 NA19090.hp1 NA20300.hp1 NA21309.hp2	a0001 a0004 a0016 others(3): Show a0001 a0004 a0016 a0017 a0018 a0019	a0001c0001 a0001c0010 a0001c0026 others(7): Show a0001c0001 a0001c0010 a0001c0026 a0001c0027 a0001c0030 a0004c0004 a0016c0023 a0017c0028 a0018c0024 a0019c0022	a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 a0001c0026t0001 a0001c0027t0003 a0001c0030t0001 a0004c0004t0004 a0016c0023t0001 a0017c0028t0004 a0018c0024t0003 a0019c0022t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(92): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0003g0072 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0010t0001g0057 a0001c0010t0001g0098 a0001c0026t0001g0111 a0001c0027t0003g0099 a0001c0030t0001g0085 a0004c0004t0004g0070 a0004c0004t0004g0071 a0004c0004t0004g0078 a0004c0004t0004g0079 a0004c0004t0004g0083 a0004c0004t0004g0084 a0004c0004t0004g0086 a0004c0004t0004g0087 a0004c0004t0004g0096 a0004c0004t0004g0109 a0004c0004t0004g0110 a0004c0004t0004g0151 a0016c0023t0001g0058 a0017c0028t0004g0060 a0018c0024t0003g0049 a0019c0022t0001g0009	95	266	0.3571	-26	c.255 others(43): Show c.255+1335_255+1360delGAGAGAGAGAGAGAGAGAGAGAGAGA	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	3/47			chr3	TogoVar
SKIC3_chr5_95458894_95559977	95492636	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAGAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG04115.hp2 HG01358.hp1 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0025 a0002c0002t0004g0026 a0002c0002t0004g0025 a0002c0002t0004g0026	2	352	0.0057	-26	c.380 others(45): Show c.3803-1626_3803-1601delTTTTTTTTTTCTTTTTTTTTTTTTTT	SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	36/42			chr5	TogoVar
SLA2_chr20_36607318_36651196	36609193	ACGCACAC others(19): Show ACGCACACACGCACACACGCACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01261.hp1 HG02055.hp2 others(3): Show HG01123.hp1 HG01261.hp1 HG02055.hp2 HG02451.hp1 HG03225.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0004	a0001c0001t0001g0211 a0001c0001t0002g0075 a0001c0001t0003g0009 others(3): Show a0001c0001t0001g0211 a0001c0001t0002g0075 a0001c0001t0003g0009 a0002c0002t0004g0173 a0002c0002t0004g0177 a0002c0002t0004g0178	6	360	0.0167	-26	c.46 others(37): Show c.4647_*4672delCGTGTGTGCGTGTGTGCGTGTGTGCG	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3124		chr20	TogoVar

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