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
SERPINA11_chr14_94437464_94457800	94449395	TCTTTCTT others(23): Show TCTTTCTTTCTATTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	452	0.0022	-30	c.-3- others(43): Show c.-3-648_-3-619delGAAAGAAAGAAAGAAAGAATAGAAAGAAAG	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA11_chr14_94437464_94457800	94449481	CTGTCTGT others(23): Show CTGTCTGTCTGTCTTTCTTTCTCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18957.hp2 NA18967.hp1 HG02523.hp1 NA18957.hp2 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0101 a0002c0002t0001g0037 a0002c0002t0001g0101	3	452	0.0066	-30	c.-3- others(43): Show c.-3-734_-3-705delAAAAGAAAGAGAAAGAAAGACAGACAGACA	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINB7_chr18_63770418_63810370	63783210	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(12): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01358.hp1 HG01952.hp2 HG02698.hp2 HG02738.hp1 HG03704.hp2 NA18955.hp2 NA18956.hp2 NA20805.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0005 a0002c0002t0003 a0008c0011t0003	a0001c0001t0001g0226 a0001c0001t0002g0152 a0001c0001t0002g0221 others(10): Show a0001c0001t0001g0226 a0001c0001t0002g0152 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0206 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0224 a0001c0003t0005g0223 a0002c0002t0003g0225 a0008c0011t0003g0214	15	432	0.0347	-30	c.168 others(45): Show c.168+674_168+703delGAGAGAGAGAGAGAGAGAGAGAAAGAAAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101140248	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03540.hp1 NA19030.hp1 others(1): Show HG02258.hp2 HG03540.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0067 a0001c0004t0009g0068 a0001c0004t0009g0069 others(1): Show a0001c0004t0009g0067 a0001c0004t0009g0068 a0001c0004t0009g0069 a0001c0004t0009g0070	4	436	0.0092	-30	c.28 others(41): Show c.2807_*2836delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		1002		chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101140266	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03041.hp2 NA18522.hp1 others(5): Show HG02559.hp1 HG03041.hp2 NA18522.hp1 NA18940.hp2 NA18944.hp2 NA18953.hp1 NA18963.hp1 NA18984.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0003 a0002c0003t0003 a0003c0002t0002 a0001c0001t0003 a0002c0003t0003 a0003c0002t0002	a0001c0001t0003g0052 a0001c0001t0003g0352 a0002c0003t0003g0349 others(5): Show a0001c0001t0003g0052 a0001c0001t0003g0352 a0002c0003t0003g0349 a0003c0002t0002g0044 a0003c0002t0002g0269 a0003c0002t0002g0272 a0003c0002t0002g0274 a0003c0002t0002g0275	8	436	0.0184	-30	c.28 others(41): Show c.2825_*2854delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		1020		chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101140272	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0273 a0003c0002t0002g0273	1	436	0.0023	-30	c.28 others(41): Show c.2831_*2860delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		1026		chr7	TogoVar
SERTM2_chrX_111506645_111527399	111524320	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02572.hp1 others(7): Show HG01891.hp2 HG02451.hp2 HG02572.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0015 others(2): Show a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0029 a0001c0001t0003g0032	10	259	0.0386	-30	c.51 others(41): Show c.5191_*5220delTGTGTGTATATATATATATATATATATATA	SERTM2	ENSG00000260802.2	transcript	ENST00000569275.2	protein_coding		1922		chrX	TogoVar
SERTM2_chrX_111506645_111527399	111524322	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	2	259	0.0077	-30	c.51 others(41): Show c.5193_*5222delTGTGTATATATATATATATATATATATATA	SERTM2	ENSG00000260802.2	transcript	ENST00000569275.2	protein_coding		1924		chrX	TogoVar
SETD2_chr3_47011436_47169113	47049304	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp2 HG02258.hp2 HG03209.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0100 a0007c0009t0003g0104 a0007c0009t0003g0100 a0007c0009t0003g0104	2	308	0.0065	-30	c.696 others(49): Show c.6964-2713_6964-2684delATATATATATATATATATATATATAT ATAT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar
SEZ6L_chr22_26164462_26388596	26304362	AAAGAAAG others(23): Show AAAGAAAGAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02622.hp2 others(4): Show HG01243.hp2 HG02559.hp1 HG02622.hp2 HG03130.hp1 HG03540.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0007 others(1): Show a0001c0003 a0001c0006 a0001c0007 a0001c0029	a0001c0003t0004 a0001c0003t0010 a0001c0006t0001 others(3): Show a0001c0003t0004 a0001c0003t0010 a0001c0006t0001 a0001c0006t0002 a0001c0007t0003 a0001c0029t0023	a0001c0003t0004g0197 a0001c0003t0004g0210 a0001c0003t0010g0024 others(4): Show a0001c0003t0004g0197 a0001c0003t0004g0210 a0001c0003t0010g0024 a0001c0006t0001g0001 a0001c0006t0002g0089 a0001c0007t0003g0232 a0001c0029t0023g0207	7	240	0.0292	-30	c.134 others(49): Show c.1349-1614_1349-1585delGAAAGAAGAAAGAAAGAAAGAAAGAA AGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFN_chr1_26858149_26869456	26868248	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01256.hp1 others(9): Show HG00280.hp1 HG01070.hp2 HG01256.hp1 HG01258.hp1 HG01516.hp1 HG01981.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 a0001c0001t0002 a0001c0001t0004 a0001c0002t0004	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0002t0004g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0002t0004g0000	12	332	0.0361	-30	c.42 others(41): Show c.4290_*4319delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SFN	ENSG00000175793.12	transcript	ENST00000339276.6	protein_coding		3793		chr1	TogoVar
SFTPB_chr2_85652314_85673199	85666361	GTGTGTGT others(23): Show GTGTGTGTGTGTGTCCGGCCAGCTGGGGTAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0122 a0002c0002t0007g0122	1	426	0.0024	-30	c.393 others(45): Show c.393+226_393+255delGTACCCCAGCTGGCCGGACACACACACACA	SFTPB	ENSG00000168878.19	transcript	ENST00000519937.7	protein_coding	4/10			chr2	TogoVar
SFTPC_chr8_22156798_22169479	22164851	GGCGGGGG others(23): Show GGCGGGGGCTCGGCCGCGCGCCCGCGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	466	0.0022	-30	c.60 others(39): Show c.605_*634delGCGGGGGCTCGGCCGCGCGCCCGCGGGGGA	SFTPC	ENSG00000168484.13	transcript	ENST00000679463.1	protein_coding		373		chr8	TogoVar
SFXN1_chr5_175473560_175534742	175524117	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19086.hp2 HG00673.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0285 a0001c0002t0002g0291 a0001c0002t0002g0285 a0001c0002t0002g0291	2	372	0.0054	-30	c.872 others(47): Show c.872+1697_872+1726delAAAAAAAATATATATATATATATATATA TA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524119	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19058.hp1 HG03579.hp2 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0040 a0001c0002t0002 a0001c0007t0040	a0001c0002t0002g0345 a0001c0007t0040g0178 a0001c0002t0002g0345 a0001c0007t0040g0178	2	372	0.0054	-30	c.872 others(47): Show c.872+1699_872+1728delAAAAAATATATATATATATATATATATA TA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156444116	CCCCTTCC others(23): Show CCCCTTCCCTCTCTCTCTCTCTCCTTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0148 a0003c0005t0001g0148	1	150	0.0067	-30	c.193 others(49): Show c.193-64484_193-64455delCCCTTCCCTCTCTCTCTCTCTCCTTC CCTT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCD_chr5_156322164_156772788	156524094	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0053 a0001c0001t0048g0053	1	150	0.0067	-30	c.294 others(49): Show c.294+15416_294+15445delATATATATATATATATATATATATAT ATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCD_chr5_156322164_156772788	156566489	TCCATCCT others(23): Show TCCATCCTTTACTTGAATGCCCTGTCACCTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0053 a0001c0001t0048g0053	1	150	0.0067	-30	c.295 others(49): Show c.295-22740_295-22711delCATCCTTTACTTGAATGCCCTGTCAC CTGC	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCE_chr7_94579980_94661133	94604806	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	390	0.0026	-30	c.663 others(47): Show c.663-1384_663-1355delATATATATATATATATATATATATATAT AT	SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding	5/10			chr7	TogoVar
SGCZ_chr8_14079845_15243431	14551528	TATATAAT others(23): Show TATATAATATATATAATATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01993.hp1 HG03704.hp2 others(1): Show HG01346.hp1 HG01993.hp1 HG03704.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0034 others(1): Show a0001c0001t0023 a0001c0001t0024 a0001c0001t0034 a0001c0001t0088	a0001c0001t0023g0029 a0001c0001t0024g0031 a0001c0001t0034g0030 others(1): Show a0001c0001t0023g0029 a0001c0001t0024g0031 a0001c0001t0034g0030 a0001c0001t0088g0054	4	102	0.0392	-30	c.234 others(47): Show c.234+3174_234+3203delTATATATTATATATATTATATATATTAT AT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15097864	GTGTATAT others(23): Show GTGTATATATATATATATACGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01978.hp1 HG02055.hp1 others(13): Show HG00438.hp2 HG01978.hp1 HG02055.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02486.hp1 HG02486.hp2 HG02717.hp2 HG02976.hp1 HG03139.hp1 HG03704.hp1 HG04204.hp2 NA18951.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0044 a0001c0001t0057 a0001c0001t0065 a0001c0001t0070 a0001c0001t0073 a0001c0001t0076 a0001c0001t0078 a0001c0001t0081 a0001c0001t0091 a0002c0002t0004 a0002c0002t0007	a0001c0001t0001g0075 a0001c0001t0005g0091 a0001c0001t0021g0015 others(13): Show a0001c0001t0001g0075 a0001c0001t0005g0091 a0001c0001t0021g0015 a0001c0001t0022g0007 a0001c0001t0026g0035 a0001c0001t0044g0033 a0001c0001t0057g0087 a0001c0001t0065g0047 a0001c0001t0070g0081 a0001c0001t0073g0053 a0001c0001t0076g0073 a0001c0001t0078g0093 a0001c0001t0081g0085 a0001c0001t0091g0102 a0002c0002t0004g0039 a0002c0002t0007g0048	16	102	0.1569	-30	c.39+ others(49): Show c.39+139691_39+139720delTATATACACACGTATATATATATATA TACA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66583348	CAGATTCA others(23): Show CAGATTCACCCCATCCTACTGAGTCTTGGGG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	302	0.0033	-30	c.11- others(47): Show c.11-42496_11-42467delATTCACCCCATCCTACTGAGTCTTGGGG AG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66589163	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0253 a0002c0002t0011g0253	1	302	0.0033	-30	c.11- others(47): Show c.11-36659_11-36630delATATATATATATATATATATATATATAT AT	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660136	GAAAGAAG others(23): Show GAAAGAAGAGAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18983.hp1 HG00621.hp2 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0268 a0002c0002t0003g0301 a0002c0002t0003g0268 a0002c0002t0003g0301	2	302	0.0066	-30	c.460 others(45): Show c.460-376_460-347delAAAGAAGAGAGAAAGAAAGAAAGAAAGAAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGK1_chr6_134164256_134323112	134206361	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp2 NA21309.hp1 HG03209.hp2 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0001g0244 a0001c0001t0002g0221 a0001c0001t0001g0121 a0001c0001t0001g0244 a0001c0001t0002g0221	3	250	0.0120	-30	c.361 others(45): Show c.361+965_361+994delAAAAAAAATATATATATATATATATATATA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134206365	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03209.hp1 HG02818.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0207 a0001c0001t0001g0061 a0001c0001t0001g0207	2	250	0.0080	-30	c.361 others(45): Show c.361+961_361+990delAAAAAAAAAAAATATATATATATATATATA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134301523	TTTCTCTT others(23): Show TTTCTCTTTTCTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01258.hp2 HG01515.hp1 others(2): Show HG00140.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 others(2): Show a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006	5	250	0.0200	-30	c.69+ others(47): Show c.69+15839_69+15868delGAGAAGAGAAGAGAAGAGAAGAAAAGAG AA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134301531	TTCTTCTC others(23): Show TTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(80): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp2 HG02135.hp2 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03688.hp1 HG03831.hp2 HG06807.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18957.hp2 NA18970.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19056.hp2 NA19062.hp2 NA19070.hp2 NA19085.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0001c0007t0001 a0005c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(80): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0131 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0155 a0001c0001t0003g0001 a0001c0001t0004g0232 a0001c0001t0004g0236 a0001c0001t0004g0245 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0009g0239 a0001c0001t0011g0055 a0001c0001t0013g0249 a0001c0001t0014g0250 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0038 a0001c0002t0001g0043 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0208 a0001c0002t0002g0159 a0001c0002t0007g0014 a0001c0003t0001g0023 a0001c0003t0001g0028 a0001c0007t0001g0156 a0005c0008t0001g0034	83	250	0.3320	-30	c.69+ others(47): Show c.69+15831_69+15860delGAAGAGAAGAGAAGAGAAGAGAAGAGAA GA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	1/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66779561	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	142	0.0070	-30	c.-12 others(51): Show c.-121-14043_-121-14014delTATATATATATATATATATATATA TATATA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66839498	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18952.hp1 NA18957.hp1 others(6): Show NA18946.hp2 NA18952.hp1 NA18957.hp1 NA18982.hp1 NA18988.hp2 NA18994.hp2 NA18998.hp1 NA19004.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0042 a0001c0002t0002g0043 others(6): Show a0001c0002t0002g0026 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0053 a0001c0002t0002g0054	9	142	0.0634	-30	c.742 others(45): Show c.742-474_742-445delATATATATATATATATATATATATATATAT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50429712	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00544.hp1 others(82): Show HG00099.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03834.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18948.hp1 NA18949.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18993.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19043.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0003t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(82): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0202 a0001c0001t0001g0257 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0231 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0264 a0001c0002t0001g0273 a0001c0002t0001g0282 a0001c0002t0001g0287 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0306 a0001c0002t0002g0078 a0001c0002t0002g0130 a0001c0002t0002g0221 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0256 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0265 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0301 a0001c0002t0002g0303 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0312 a0001c0002t0004g0025 a0001c0002t0004g0119 a0001c0002t0007g0132 a0001c0002t0007g0141 a0001c0002t0009g0026 a0001c0002t0011g0001 a0001c0003t0001g0259 a0001c0003t0001g0269 a0001c0003t0001g0270	85	312	0.2724	-30	c.-23 others(49): Show c.-232+3734_-232+3763delATGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	6/10			chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80533272	TCCTCCTC others(23): Show TCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02451.hp2 HG02559.hp2 others(19): Show HG01069.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19084.hp2 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0014 a0015	a0001c0001 a0001c0010 a0002c0002 others(8): Show a0001c0001 a0001c0010 a0002c0002 a0002c0007 a0003c0003 a0005c0005 a0006c0008 a0007c0015 a0010c0017 a0014c0026 a0015c0025	a0001c0001t0001 a0001c0001t0007 a0001c0010t0001 others(14): Show a0001c0001t0001 a0001c0001t0007 a0001c0010t0001 a0002c0002t0001 a0002c0002t0004 a0002c0007t0001 a0002c0007t0010 a0003c0003t0011 a0005c0005t0002 a0005c0005t0006 a0005c0005t0009 a0006c0008t0006 a0007c0015t0006 a0007c0015t0007 a0010c0017t0001 a0014c0026t0006 a0015c0025t0009	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0207 others(18): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0207 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0010t0001g0015 a0002c0002t0001g0017 a0002c0002t0004g0086 a0002c0007t0001g0001 a0002c0007t0001g0016 a0002c0007t0010g0005 a0003c0003t0011g0067 a0005c0005t0002g0113 a0005c0005t0006g0204 a0005c0005t0009g0198 a0006c0008t0006g0199 a0007c0015t0006g0206 a0007c0015t0007g0205 a0010c0017t0001g0035 a0014c0026t0006g0203 a0015c0025t0009g0202	22	322	0.0683	-30	c.-50 others(41): Show c.-5059_-5030delCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		4629		chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572945	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	322	0.0031	-30	c.495 others(47): Show c.495+1380_495+1409delATATATATATATATATATATATATATAT AT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282338	GCCGGGAC others(23): Show GCCGGGACCGGGACCGGGACTGGGGCCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG00642.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	-30	c.12 others(41): Show c.1216_*1245delCCGGGACCGGGACCGGGACTGGGGCCGGGA	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		817		chr1	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282362	GCCGGGAC others(23): Show GCCGGGACCGGGACCGGGACTGGGGCCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00733.hp2 others(74): Show HG00323.hp1 HG00544.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01358.hp2 HG01952.hp1 HG02056.hp2 HG02071.hp1 HG02258.hp1 HG02293.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18952.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19067.hp1 NA19072.hp2 NA19075.hp1 NA19077.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	77	422	0.1825	-30	c.12 others(41): Show c.1240_*1269delCCGGGACCGGGACCGGGACTGGGGCCGGGA	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		841		chr1	TogoVar
SH3BP2_chr4_2788085_2846096	2825447	TGCACACA others(23): Show TGCACACACACAGAGCAACACGTGGACATGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG03017.hp1 others(1): Show HG00642.hp2 HG01192.hp2 HG03017.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0087 a0001c0002t0004 a0001c0002t0087	a0001c0002t0004g0175 a0001c0002t0004g0178 a0001c0002t0004g0179 others(1): Show a0001c0002t0004g0175 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0087g0153	4	378	0.0106	-30	c.428 others(45): Show c.428+282_428+311delGCACACACACAGAGCAACACGTGGACATGC	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3GL2_chr9_17574066_17802124	17622976	GTTTCCTT others(23): Show GTTTCCTTTCGTTTCCTTTCCTTTCCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02258.hp1 HG03710.hp1 others(2): Show HG00438.hp1 HG02258.hp1 HG03710.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0099 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0099 a0001c0001t0001g0259 a0001c0001t0002g0031	5	260	0.0192	-30	c.45+ others(47): Show c.45+43699_45+43728delGTTTCCTTTCCTTTCCTTTCCTTTCCTT TC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19760023	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCCCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	204	0.0049	-30	c.163 others(49): Show c.163-13612_163-13583delAGAGAGAGAGAGGGAGAGAGAGAGAG AGAG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103810918	ACGGAGAC others(23): Show ACGGAGACACACACATGGACACAGGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0170 a0001c0001t0040g0170	1	250	0.0040	-30	c.73- others(45): Show c.73-9586_73-9557delCGCGCGCCTGTGTCCATGTGTGTGTCTCCG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439263	ACAAAAAC others(23): Show ACAAAAACAAAAACAAAACAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0051 a0007c0014t0051	a0007c0014t0051g0024 a0007c0014t0051g0024	1	280	0.0036	-30	c.75+ others(47): Show c.75+14985_75+15014delGGTTTTTTTTTTGTTTTGTTTTTGTTTT TG	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169145773	TTATATAT others(23): Show TTATATATTCTATATATTATTCTATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01192.hp2 others(7): Show HG00099.hp2 HG01081.hp2 HG01192.hp2 HG02145.hp1 HG02602.hp1 HG02738.hp2 HG03209.hp1 HG04115.hp2 NA18953.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0013t0002	a0001c0001t0002g0066 a0001c0001t0002g0071 a0001c0001t0002g0074 others(7): Show a0001c0001t0002g0066 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0004g0076 a0001c0001t0014g0067 a0001c0001t0014g0140 a0001c0001t0015g0198 a0001c0013t0002g0064	10	216	0.0463	-30	c.766 others(47): Show c.766-9183_766-9154delTTTTATATAGAATAATATATAGAATATA TA	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	4/11			chr4	TogoVar
SH3RF2_chr5_145931578_146068292	146028163	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(72): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04228.hp1 NA18747.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18971.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp2 NA18991.hp2 NA19002.hp2 NA19009.hp1 NA19012.hp2 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0014 others(3): Show a0001 a0004 a0014 a0016 a0017 a0021	a0001c0001 a0001c0011 a0001c0014 others(6): Show a0001c0001 a0001c0011 a0001c0014 a0001c0016 a0004c0006 a0014c0017 a0016c0013 a0017c0015 a0021c0029	a0001c0001t0002 a0001c0011t0001 a0001c0014t0002 others(6): Show a0001c0001t0002 a0001c0011t0001 a0001c0014t0002 a0001c0016t0002 a0004c0006t0001 a0014c0017t0001 a0016c0013t0002 a0017c0015t0002 a0021c0029t0002	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(72): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0201 a0001c0011t0001g0071 a0001c0011t0001g0160 a0001c0014t0002g0153 a0001c0016t0002g0122 a0004c0006t0001g0152 a0014c0017t0001g0249 a0016c0013t0002g0161 a0017c0015t0002g0184 a0021c0029t0002g0126	75	272	0.2757	-30	c.105 others(51): Show c.1059+14120_1059+14149delCACACACACACACACACACACACA CACACA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064658	GAGAAAGA others(23): Show GAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01255.hp2 HG01496.hp1 others(5): Show HG01099.hp2 HG01255.hp2 HG01496.hp1 HG02735.hp1 HG03540.hp1 NA18967.hp2 NA19043.hp1 NA20129.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0022	a0002c0002 a0003c0003 a0004c0006 others(1): Show a0002c0002 a0003c0003 a0004c0006 a0022c0031	a0002c0002t0001 a0003c0003t0001 a0004c0006t0001 others(1): Show a0002c0002t0001 a0003c0003t0001 a0004c0006t0001 a0022c0031t0003	a0002c0002t0001g0087 a0002c0002t0001g0112 a0002c0002t0001g0256 others(5): Show a0002c0002t0001g0087 a0002c0002t0001g0112 a0002c0002t0001g0256 a0002c0002t0001g0258 a0003c0003t0001g0031 a0003c0003t0001g0067 a0004c0006t0001g0139 a0022c0031t0003g0007	8	272	0.0294	-30	c.19 others(41): Show c.1958_*1987delAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1367		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064672	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	272	0.0037	-30	c.19 others(41): Show c.1972_*2001delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1381		chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146064676	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG04115.hp1 NA18949.hp2 others(7): Show HG00544.hp1 HG04115.hp1 NA18949.hp2 NA18965.hp1 NA18991.hp2 NA19002.hp2 NA19009.hp1 NA19074.hp2 NA19077.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0054 a0001c0001t0002g0061 others(7): Show a0001c0001t0002g0016 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0142 a0001c0001t0002g0154 a0001c0001t0002g0175 a0001c0001t0002g0182 a0001c0001t0002g0185	10	272	0.0368	-30	c.19 others(41): Show c.1976_*2005delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1385		chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109170219	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTTTTCTTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG02809.hp1 others(2): Show HG01175.hp2 HG01891.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0022	a0001c0001t0047 a0001c0003t0003 a0001c0005t0017 others(1): Show a0001c0001t0047 a0001c0003t0003 a0001c0005t0017 a0001c0022t0051	a0001c0001t0047g0046 a0001c0003t0003g0085 a0001c0005t0017g0110 others(2): Show a0001c0001t0047g0046 a0001c0003t0003g0085 a0001c0005t0017g0110 a0001c0005t0017g0111 a0001c0022t0051g0013	5	172	0.0291	-30	c.573 others(49): Show c.573+40126_573+40155delTTTCTTTTCTCTTCTCTTCTCTTCTC TTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109170239	TTTCTTTT others(23): Show TTTCTTTTCTCTTCTCTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02257.hp2 others(5): Show HG01192.hp1 HG01891.hp1 HG02257.hp2 HG02523.hp2 HG03471.hp1 HG03669.hp2 HG04115.hp1 NA18950.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0057 a0001c0001t0064 others(5): Show a0001c0001t0001 a0001c0001t0057 a0001c0001t0064 a0001c0001t0069 a0001c0003t0002 a0001c0005t0004 a0002c0002t0001 a0003c0006t0002	a0001c0001t0001g0032 a0001c0001t0057g0074 a0001c0001t0064g0101 others(5): Show a0001c0001t0001g0032 a0001c0001t0057g0074 a0001c0001t0064g0101 a0001c0001t0069g0090 a0001c0003t0002g0079 a0001c0005t0004g0040 a0002c0002t0001g0169 a0003c0006t0002g0116	8	172	0.0465	-30	c.573 others(49): Show c.573+40131_573+40160delTTTCTCTTCTCTTCTCTTCTCTTCTC TTCT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109198762	ACCTCCTG others(23): Show ACCTCCTGATACCAAACCTAGGAAGTACAGC	A A	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0165 a0002c0002t0001g0165	1	172	0.0058	-30	c.573 others(49): Show c.573+68651_573+68680delCTCCTGATACCAAACCTAGGAAGTAC AGCC	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC2_chr5_148977150_149068062	149021884	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19084.hp1 NA18995.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0204 a0001c0001t0205 a0001c0001t0204 a0001c0001t0205	a0001c0001t0204g0196 a0001c0001t0205g0166 a0001c0001t0204g0196 a0001c0001t0205g0166	2	326	0.0061	-30	c.305 others(49): Show c.3053+4658_3053+4687delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SH3TC2	ENSG00000169247.14	transcript	ENST00000515425.6	protein_coding	12/16			chr5	TogoVar
SHANK1_chr19_50654255_50724802	50707876	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01515.hp1 others(24): Show HG00408.hp1 HG00597.hp2 HG01515.hp1 HG01891.hp1 HG02004.hp1 HG02135.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp1 HG03041.hp2 HG03195.hp2 HG03471.hp2 HG03540.hp2 HG03710.hp2 NA18522.hp1 NA18951.hp1 NA18986.hp1 NA18986.hp2 NA19012.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0015	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0032 a0002c0001 a0003c0005 a0005c0022 a0007c0034 a0008c0030 a0015c0033	a0001c0002t0002 a0001c0002t0052 a0001c0003t0001 others(23): Show a0001c0002t0002 a0001c0002t0052 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0010 a0001c0003t0022 a0001c0003t0082 a0001c0004t0010 a0001c0004t0011 a0001c0004t0016 a0001c0004t0080 a0001c0007t0012 a0001c0009t0022 a0001c0032t0018 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0056 a0002c0001t0065 a0002c0001t0089 a0003c0005t0043 a0005c0022t0001 a0007c0034t0007 a0008c0030t0071 a0015c0033t0002	a0001c0002t0002g0218 a0001c0002t0052g0025 a0001c0003t0001g0059 others(24): Show a0001c0002t0002g0218 a0001c0002t0052g0025 a0001c0003t0001g0059 a0001c0003t0004g0254 a0001c0003t0007g0053 a0001c0003t0007g0074 a0001c0003t0010g0284 a0001c0003t0022g0075 a0001c0003t0082g0083 a0001c0004t0010g0058 a0001c0004t0011g0048 a0001c0004t0016g0064 a0001c0004t0080g0082 a0001c0007t0012g0077 a0001c0009t0022g0084 a0001c0032t0018g0185 a0002c0001t0001g0057 a0002c0001t0002g0145 a0002c0001t0005g0144 a0002c0001t0056g0032 a0002c0001t0065g0042 a0002c0001t0089g0217 a0003c0005t0043g0020 a0005c0022t0001g0092 a0007c0034t0007g0252 a0008c0030t0071g0072 a0015c0033t0002g0186	27	316	0.0854	-30	c.107 others(49): Show c.1078-3392_1078-3363delGAAAAGAAAAGAAAAGAAAAGAAAAG AAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar

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