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
SMIM10_chrX_134985991_134997473	134986690	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTTTTCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01496.hp2 HG00733.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	322	0.0062	-28	c.-44 others(39): Show c.-4405_-4378delCTTTCTTTCTTTCTTTTTTCTTCCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4300		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986694	TCTTTCTT others(21): Show TCTTTCTTTCTTTTTTCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02922.hp2 HG00323.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	2	322	0.0062	-28	c.-44 others(39): Show c.-4401_-4374delCTTTCTTTCTTTTTTCTTCCTTCCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4296		chrX	TogoVar
SMIM14_chr4_39541336_39643865	39619356	CTATATAT others(21): Show CTATATATCAATAAATATAATTTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0094 a0001c0001t0018g0094	1	344	0.0029	-28	c.-35 others(47): Show c.-35-14204_-35-14177delTAGAATAAATTATATTTATTGATATA TA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM35_chr11_117998634_118091963	118048537	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18979.hp2 HG02080.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0098 a0001c0001t0023g0210 a0001c0001t0001g0098 a0001c0001t0023g0210	2	408	0.0049	-28	c.8-3 others(43): Show c.8-32756_8-32729delCTTCCTTCCTTCCTTCCTTCCTTCCTTC	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118067860	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00609.hp1 others(67): Show HG00140.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01496.hp2 HG01516.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 NA18522.hp1 NA18942.hp1 NA18965.hp1 NA18970.hp2 NA18973.hp1 NA18981.hp2 NA18985.hp2 NA18990.hp2 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19058.hp2 NA19064.hp1 NA19070.hp1 NA19081.hp1 NA19082.hp1 NA19090.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0002c0002t0002 a0002c0002t0007 a0003c0003t0013	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0148 others(66): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0148 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0208 a0001c0001t0003g0145 a0001c0001t0003g0171 a0001c0001t0003g0188 a0001c0001t0003g0193 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0305 a0001c0001t0003g0309 a0001c0001t0004g0185 a0001c0001t0004g0189 a0001c0001t0004g0191 a0001c0001t0004g0198 a0001c0001t0006g0172 a0001c0001t0006g0178 a0001c0001t0006g0213 a0001c0001t0006g0216 a0001c0001t0006g0302 a0001c0001t0006g0306 a0001c0001t0012g0219 a0001c0001t0015g0220 a0001c0001t0016g0303 a0001c0001t0018g0176 a0001c0001t0023g0210 a0002c0002t0002g0001 a0002c0002t0002g0180 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0196 a0002c0002t0002g0308 a0002c0002t0007g0214 a0002c0002t0007g0215 a0002c0002t0007g0218 a0003c0003t0013g0217 a0003c0003t0013g0301	70	408	0.1716	-28	c.7+1 others(43): Show c.7+18863_7+18890delATATATATATATATATATATATATATAT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55508431	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp1 NA19043.hp1 others(1): Show HG02280.hp1 HG02976.hp1 NA19043.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 others(1): Show a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337	4	340	0.0118	-28	c.17 others(47): Show c.174+2420_*174+2447delATATATATATATATATATATATATAT AT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM46_chr19_14107324_14117476	14109955	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03098.hp2 HG03471.hp1 HG02486.hp1 HG03098.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	3	368	0.0082	-28	c.23 others(39): Show c.2341_*2368delATATATATATATATATATTTTTTTTTTT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2368		chr19	TogoVar
SMIM8_chr6_87317588_87347329	87339413	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTTTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02886.hp1 HG03579.hp2 others(2): Show HG01109.hp1 HG02886.hp1 HG03579.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0022 a0001c0001t0030 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030	a0001c0001t0018g0071 a0001c0001t0022g0073 a0001c0001t0022g0074 others(1): Show a0001c0001t0018g0071 a0001c0001t0022g0073 a0001c0001t0022g0074 a0001c0001t0030g0125	5	420	0.0119	-28	c.136 others(43): Show c.136-678_136-651delGTGTGTGTGTGTGTGTGTGTGTGTGTTT	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC1_chr14_69874416_70037366	69924774	AGGGGAGG others(21): Show AGGGGAGGTAAGGGAGGTAGGGGAGGTAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01099.hp1 others(25): Show HG00642.hp2 HG00733.hp1 HG01099.hp1 HG01109.hp2 HG01433.hp2 HG01496.hp1 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02717.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03516.hp1 HG03540.hp2 HG03710.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0030 a0001c0001t0033 a0001c0006t0001	a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0061 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0006g0080 a0001c0001t0007g0032 a0001c0001t0007g0034 a0001c0001t0015g0054 a0001c0001t0015g0153 a0001c0001t0016g0078 a0001c0001t0017g0176 a0001c0001t0030g0093 a0001c0001t0033g0043 a0001c0006t0001g0220 a0001c0006t0001g0233	28	270	0.1037	-28	c.100 others(47): Show c.100-27360_100-27333delGAGGTAAGGGAGGTAGGGGAGGTAGG GG	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168613742	GGGGCCTC others(21): Show GGGGCCTCTTCACACCTACAGCCAGCACA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01167.hp1 HG01256.hp2 others(27): Show HG00597.hp1 HG01167.hp1 HG01256.hp2 HG01361.hp1 HG01952.hp2 HG02083.hp1 HG02129.hp2 HG02735.hp1 HG03130.hp2 HG03579.hp1 HG03654.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18963.hp2 NA18971.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0012 a0001c0001 a0001c0002 a0002c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0007 a0002c0012t0010	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0092 others(27): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0003g0087 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0171 a0001c0001t0011g0119 a0001c0001t0015g0163 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0014 a0001c0002t0002g0028 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0007g0016 a0002c0012t0010g0076	30	180	0.1667	-28	c.907 others(45): Show c.907+5542_907+5569delACACCTACAGCCAGCACAGGGCCTCTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614460	AGCCTCTT others(21): Show AGCCTCTTCACACCTACAGCCAGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02809.hp2 others(3): Show HG02572.hp1 HG02572.hp2 HG02809.hp2 HG02970.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0124 a0001c0001t0003g0169 a0001c0002t0002g0052 others(3): Show a0001c0001t0001g0124 a0001c0001t0003g0169 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0002g0180	6	180	0.0333	-28	c.907 others(45): Show c.907+6287_907+6314delCACCTACAGCCAGCACAGGGCCTCTTCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPD1_chr11_6385474_6399996	6387249	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 NA18906.hp2 HG02056.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0005 a0001c0001t0001g0036	2	388	0.0052	-28	c.-33 others(39): Show c.-3349_-3322delATATATATATATATATATATATATATAT	SMPD1	ENSG00000166311.10	transcript	ENST00000342245.9	protein_coding		3224		chr11	TogoVar
SMPDL3A_chr6_122784258_122814720	122807158	TCCAAATT others(21): Show TCCAAATTGCTGGTATTACAGATGTGAGC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02523.hp1 HG00621.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0123 a0001c0001t0001g0128	2	442	0.0045	-28	c.104 others(45): Show c.1044+803_1044+830delCAAATTGCTGGTATTACAGATGTGAGCC	SMPDL3A	ENSG00000172594.13	transcript	ENST00000368440.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPDL3A_chr6_122784258_122814720	122808589	CCCTTCCT others(21): Show CCCTTCCTCCCTCCCTCCCTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	442	0.0023	-28	c.104 others(45): Show c.1045-494_1045-467delCCCTCCCTCCCTCCCTTCCTTCCTTCCT	SMPDL3A	ENSG00000172594.13	transcript	ENST00000368440.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPX_chrX_21700978_21763116	21728214	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	289	0.0035	-28	c.14 others(45): Show c.14+9307_*14+9334delGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMPX_chrX_21700978_21763116	21731728	ATGTGTAT others(21): Show ATGTGTATATGTGTATATGTACACATTTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	289	0.0035	-28	c.14 others(45): Show c.14+5793_*14+5820delCAAATGTGTACATATACACATATACACA	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMUG1_chr12_54175366_54193985	54188266	GAAATAAT others(21): Show GAAATAATAATAATAATAATAATAATAAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp2 others(87): Show HG00140.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp1 HG02630.hp1 HG02698.hp1 HG02735.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG04115.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18955.hp2 NA18959.hp1 NA18967.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0007 a0001c0001 a0002c0002 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0002c0002t0019 a0007c0007t0003	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 others(37): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0044 a0001c0001t0003g0001 a0001c0001t0003g0032 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0004g0010 a0001c0001t0004g0036 a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0007g0096 a0001c0001t0007g0099 a0001c0001t0011g0094 a0001c0001t0011g0098 a0001c0001t0011g0102 a0001c0001t0012g0165 a0001c0001t0018g0164 a0002c0002t0019g0159 a0007c0007t0003g0097	90	438	0.2055	-28	c.-10 others(45): Show c.-103-392_-103-365delATTATTATTATTATTATTATTATTATTT	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	1/3			chr12	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	264	0.0038	-28	c.56- others(43): Show c.56-1432_56-1405delTATATATATATATATATATATATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD2_chr1_214276159_214342131	214293011	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01884.hp2 others(2): Show HG00642.hp2 HG01109.hp2 HG01884.hp2 HG02109.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 others(2): Show a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036	5	380	0.0132	-28	c.173 others(47): Show c.173+11614_173+11641delGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245813860	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01433.hp2 others(14): Show HG01109.hp1 HG01243.hp1 HG01433.hp2 HG02451.hp2 HG02486.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp1 HG03579.hp1 NA18522.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0003 others(5): Show a0001c0001 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0003c0010	a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 others(8): Show a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0008t0001 a0002c0008t0002 a0003c0010t0001	a0001c0001t0001g0019 a0001c0006t0001g0022 a0001c0006t0001g0025 others(14): Show a0001c0001t0001g0019 a0001c0006t0001g0022 a0001c0006t0001g0025 a0001c0006t0001g0076 a0002c0003t0001g0105 a0002c0003t0001g0148 a0002c0003t0002g0095 a0002c0003t0002g0116 a0002c0004t0001g0107 a0002c0005t0001g0146 a0002c0005t0002g0106 a0002c0007t0001g0120 a0002c0007t0001g0132 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0003c0010t0001g0031	17	150	0.1133	-28	c.107 others(49): Show c.1076+44608_1076+44635delTATATATATATATATATATATATA TATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246324932	GATCTATT others(21): Show GATCTATTTAGGTTAATTTAGGATCTTTC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	150	0.0067	-28	c.531 others(45): Show c.531+2241_531+2268delGAAAGATCCTAAATTAACCTAAATAGAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246395609	CCACCATG others(21): Show CCACCATGGCTGGACAGGGAAGACGAACA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0144	1	150	0.0067	-28	c.165 others(47): Show c.165-40543_165-40516delTGTTCGTCTTCCCTGTCCAGCCATGG TG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246395754	AGTCAGAC others(21): Show AGTCAGACAGGGAAGAGGAACCCACCATG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp2 HG02280.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0001c0006 a0002c0005	a0001c0006t0001 a0002c0005t0001 a0001c0006t0001 a0002c0005t0001	a0001c0006t0001g0035 a0002c0005t0001g0138 a0001c0006t0001g0035 a0002c0005t0001g0138	2	150	0.0133	-28	c.165 others(47): Show c.165-40688_165-40661delCATGGTGGGTTCCTCTTCCCTGTCTG AC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAI1_chr20_49977980_49993886	49978464	CATATATA others(21): Show CATATATACATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0032 a0002c0002t0014g0032	1	440	0.0023	-28	c.-45 others(39): Show c.-4595_-4568delATATATACATATATATATATATATATAT	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		4515		chr20	TogoVar
SNAP25_chr20_10213830_10312418	10282146	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGATGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp2 HG02280.hp2 others(2): Show HG00642.hp2 HG01106.hp2 HG02280.hp2 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019	a0001c0001t0003g0018 a0001c0001t0006g0227 a0001c0001t0008g0210 others(2): Show a0001c0001t0003g0018 a0001c0001t0006g0227 a0001c0001t0008g0210 a0001c0001t0008g0281 a0001c0001t0019g0177	5	340	0.0147	-28	c.115 others(45): Show c.115-2562_115-2535delTGGAAGGAAGGAAGGAAGGAAGGAAGGA	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNAP91_chr6_83547885_83714101	83610720	TATATATA others(21): Show TATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA20905.hp2 HG03492.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0313 a0001c0002t0001g0314	2	366	0.0055	-28	c.885 others(41): Show c.885-71_885-44delTTATATATATATATATATATATATATAT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	11/29			chr6	TogoVar
SND1_chr7_127647194_128097593	127953151	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp2 HG02004.hp1 others(18): Show HG00280.hp1 HG01515.hp2 HG02004.hp1 HG02071.hp2 HG02080.hp1 HG02155.hp1 HG02602.hp2 HG03579.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18966.hp1 NA18977.hp2 NA18980.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19057.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0094 others(18): Show a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0002g0037 a0001c0002t0001g0151	21	262	0.0802	-28	c.166 others(49): Show c.1669+23865_1669+23892delGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNED1_chr2_240993618_241100568	241019055	AGGACCAG others(21): Show AGGACCAGGAGCACATGCCCATGGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG02015.hp2 others(17): Show HG00741.hp2 HG01074.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02155.hp2 HG02258.hp2 HG02300.hp2 HG03130.hp2 NA18942.hp1 NA18951.hp2 NA19004.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp2 NA19082.hp1 NA19090.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0013	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0008 a0002c0009 a0002c0010 a0002c0036 a0003c0004 a0003c0023 a0004c0026 a0005c0014 a0013c0029	a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 others(14): Show a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0058 a0002c0003t0008 a0002c0008t0033 a0002c0009t0046 a0002c0010t0014 a0002c0036t0025 a0003c0004t0007 a0003c0023t0006 a0003c0023t0007 a0004c0026t0013 a0005c0014t0001 a0013c0029t0006 a0013c0029t0007	a0001c0001t0002g0158 a0001c0001t0002g0301 a0001c0002t0001g0075 others(17): Show a0001c0001t0002g0158 a0001c0001t0002g0301 a0001c0002t0001g0075 a0001c0006t0001g0108 a0001c0006t0001g0258 a0001c0006t0002g0076 a0001c0006t0002g0084 a0001c0006t0058g0085 a0002c0003t0008g0070 a0002c0008t0033g0287 a0002c0009t0046g0082 a0002c0010t0014g0038 a0002c0036t0025g0022 a0003c0004t0007g0152 a0003c0023t0006g0237 a0003c0023t0007g0236 a0004c0026t0013g0048 a0005c0014t0001g0279 a0013c0029t0006g0106 a0013c0029t0007g0153	20	344	0.0581	-28	c.214 others(47): Show c.214-11104_214-11077delCATGCCCATGGTGTGTGGACCAGGAG CA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19002.hp1 HG03516.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0098 a0001c0001t0003g0059 a0001c0001t0002g0098 a0001c0001t0003g0059	2	258	0.0078	-28	c.732 others(43): Show c.732-440_732-413delATATATATATATATATATATATATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRPG_chr2_70276362_70298740	70291014	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00621.hp1 others(50): Show HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG01074.hp1 HG01934.hp2 HG01943.hp1 HG02004.hp2 HG02071.hp2 HG02080.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02895.hp1 HG03710.hp2 HG04204.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18975.hp1 NA18976.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19067.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 others(26): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079	53	424	0.1250	-28	c.33- others(43): Show c.33-1670_33-1643delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SNRPG	ENSG00000143977.14	transcript	ENST00000272348.7	protein_coding	1/3			chr2	TogoVar
SNTB2_chr16_69182164_69314052	69278889	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	218	0.0046	-28	c.114 others(47): Show c.1149-5142_1149-5115delGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTB2_chr16_69182164_69314052	69279967	TGAACAAA others(21): Show TGAACAAAGGTCTCTGGTTTTCCTATGCA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	218	0.0046	-28	c.114 others(47): Show c.1149-4079_1149-4052delAACAAAGGTCTCTGGTTTTCCTATGC AG	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTB2_chr16_69182164_69314052	69292362	ATATATAT others(21): Show ATATATATATATATATATTATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01256.hp1 HG01258.hp2 others(18): Show HG00544.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01517.hp1 HG01993.hp2 HG02129.hp1 HG02698.hp2 HG02735.hp2 HG03491.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp1 NA18950.hp2 NA18963.hp1 NA18973.hp1 NA18983.hp1 NA18998.hp2 NA19007.hp1 NA19010.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0129 a0001c0001t0002g0083 a0001c0001t0002g0098 others(18): Show a0001c0001t0001g0129 a0001c0001t0002g0083 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0181 a0001c0001t0002g0213	21	218	0.0963	-28	c.134 others(47): Show c.1346-7171_1346-7144delTATATATATATATATATTATATATAT AT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	190	0.0053	-28	c.72+ others(45): Show c.72+54780_72+54807delTATATATATATATATATATATATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81834139	TGGTGGAA others(21): Show TGGTGGAAAGTGAAGGCACATCTCACATG	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0068 a0001c0002t0003g0068	1	306	0.0033	-28	c.376 others(45): Show c.376-4651_376-4624delCATGTGAGATGTGCCTTCACTTTCCACC	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding	2/7			chr8	TogoVar
SNX18_chr5_54512759_54551586	54513357	GGGAGTGC others(21): Show GGGAGTGCAGGCTTGAGCCAGGCTTTCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0010 a0001c0003t0007g0010	1	390	0.0026	-28	c.-45 others(39): Show c.-4595_-4568delGGAGTGCAGGCTTGAGCCAGGCTTTCTA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4401		chr5	TogoVar
SNX21_chr20_45828799_45848276	45836789	GATGACAA others(21): Show GATGACAAGATAGAGCAGGATGGCCAAGT	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0072 a0001c0001t0014g0072	1	432	0.0023	-28	c.447 others(45): Show c.447+1677_447+1704delACAAGATAGAGCAGGATGGCCAAGTATG	SNX21	ENSG00000124104.19	transcript	ENST00000491381.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG03098.hp2 others(3): Show HG02258.hp1 HG02647.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0127 a0001c0001t0129 others(3): Show a0001c0001t0104 a0001c0001t0127 a0001c0001t0129 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140	a0001c0001t0104g0081 a0001c0001t0127g0084 a0001c0001t0129g0083 others(3): Show a0001c0001t0104g0081 a0001c0001t0127g0084 a0001c0001t0129g0083 a0001c0001t0138g0086 a0001c0001t0139g0259 a0001c0001t0140g0093	6	366	0.0164	-28	c.115 others(47): Show c.1150-7060_1150-7033delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12393384	TCATTCAT others(21): Show TCATTCATTCATGCATGCATGCATGCATG	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0095 a0001c0001t0011g0095	1	176	0.0057	-28	c.190 others(47): Show c.1900-5050_1900-5023delGCATGCATGCATGCATGCATTCATTC AT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12403192	TTGTGTGT others(21): Show TTGTGTGTGTATGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0029 a0001c0003t0016g0029	1	176	0.0057	-28	c.195 others(45): Show c.1956-246_1956-219delATGTGTGTGTGTGTGTGTGTGTGTGTGT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476381	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0057 a0001c0018t0007g0057	1	176	0.0057	-28	c.203 others(47): Show c.2038-1336_2038-1309delAATATATATATATATATATATATATA TA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12575841	TTTTTTTG others(21): Show TTTTTTTGTTTTTTTTGTTTTTGTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02922.hp2 NA18906.hp2 HG02615.hp2 HG02922.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0018 a0001c0003t0002 a0001c0003t0016 a0001c0002t0018 a0001c0003t0002 a0001c0003t0016	a0001c0002t0018g0034 a0001c0003t0002g0058 a0001c0003t0016g0029 a0001c0002t0018g0034 a0001c0003t0002g0058 a0001c0003t0016g0029	3	176	0.0171	-28	c.72 others(39): Show c.7213_*7240delTTTTTTGTTTTTTTTGTTTTTGTTTTTA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding		1555		chr16	TogoVar
SNX30_chr9_112745760_112879987	112865624	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG04228.hp2 NA18941.hp1 others(3): Show HG02040.hp2 HG04228.hp2 NA18941.hp1 NA18955.hp1 NA19001.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0001c0001t0056 a0002c0003t0010 a0001c0001t0010 a0001c0001t0056 a0002c0003t0010	a0001c0001t0010g0065 a0001c0001t0010g0067 a0001c0001t0010g0195 others(3): Show a0001c0001t0010g0065 a0001c0001t0010g0067 a0001c0001t0010g0195 a0001c0001t0010g0244 a0001c0001t0056g0131 a0002c0003t0010g0336	6	338	0.0178	-28	c.125 others(47): Show c.1254+1236_1254+1263delATATATATATATATATATATATATAT AT	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNX8_chr7_2246770_2319441	2279098	GGACTCAC others(21): Show GGACTCACTCACACTACGGAGTCGACGCC	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	370	0.0027	-28	c.95- others(41): Show c.95-821_95-794delGGCGTCGACTCCGTAGTGTGAGTGAGTC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SOAT1_chr1_179288797_179363680	179348760	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0084 a0001c0001t0063g0084	1	382	0.0026	-28	c.121 others(43): Show c.1216-56_1216-29delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOBP_chr6_107485117_107666306	107656342	AGAGAAAG others(21): Show AGAGAAAGAAAGAAAGAAAGAAAGAAAGT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0033 a0001c0001t0014g0033	1	296	0.0034	-28	c.4- others(43): Show c.4-1864_*4-1837delGAGAAAGAAAGAAAGAAAGAAAGAAAGT	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6			chr6	TogoVar
SON_chr21_33538038_33582481	33577603	CTACACAC others(21): Show CTACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	364	0.0028	-28	c.11 others(39): Show c.1180_*1207delTACACACACACACACACACACACACACA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		123		chr21	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG00738.hp2 others(16): Show HG00621.hp1 HG00738.hp1 HG00738.hp2 HG01168.hp2 HG02486.hp2 HG02922.hp2 HG03225.hp1 HG03453.hp2 HG03669.hp1 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18956.hp1 NA18962.hp2 NA18963.hp1 NA18980.hp1 NA18987.hp2 NA18991.hp1 NA19002.hp2	a0001 a0002 a0019 others(2): Show a0001 a0002 a0019 a0023 a0024	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0019c0041 a0023c0043 a0024c0027	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0019c0041t0001 a0023c0043t0001 a0024c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0033 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0154 a0001c0001t0001g0227 a0001c0002t0001g0039 a0001c0002t0001g0070 a0002c0003t0001g0017 a0002c0003t0001g0174 a0002c0003t0001g0183 a0019c0041t0001g0115 a0023c0043t0001g0033 a0024c0027t0001g0005	19	364	0.0522	-28	c.11 others(39): Show c.1181_*1208delACACACACACACACACACACACACACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SON_chr21_33538038_33582481	33577675	ACACACAC others(21): Show ACACACACACACACACACACACACACACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18948.hp2 HG02027.hp2 NA18948.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0047 a0002c0003t0001g0173 a0002c0003t0001g0047 a0002c0003t0001g0173	2	364	0.0055	-28	c.12 others(39): Show c.1252_*1279delCACACACACACACACACACACACACACC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		195		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185731858	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0275 a0001c0001t0024g0275	1	312	0.0032	-28	c.-41 others(45): Show c.-41+2213_-41+2240delTATATATATATATATATATAGAGAGAGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar

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