Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
SMG6_chr17_2054843_2308785	2121587	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp2 others(109): Show HG00140.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02055.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp1 NA18951.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18995.hp2 NA18999.hp1 NA19005.hp2 NA19011.hp2 NA19043.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19080.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0002 a0003 a0004 others(12): Show a0002 a0003 a0004 a0006 a0007 a0010 a0013 a0014 a0015 a0016 a0017 a0021 a0022 a0023 a0024	a0002c0002 a0002c0012 a0002c0034 others(14): Show a0002c0002 a0002c0012 a0002c0034 a0003c0003 a0004c0004 a0006c0005 a0007c0007 a0010c0011 a0013c0017 a0014c0018 a0015c0030 a0016c0029 a0017c0031 a0021c0026 a0022c0033 a0023c0016 a0024c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(30): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0010 a0002c0002t0023 a0002c0002t0024 a0002c0012t0003 a0002c0012t0028 a0002c0034t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0008 a0004c0004t0012 a0004c0004t0021 a0004c0004t0022 a0006c0005t0001 a0007c0007t0001 a0007c0007t0002 a0007c0007t0014 a0010c0011t0010 a0013c0017t0001 a0014c0018t0001 a0015c0030t0001 a0016c0029t0001 a0017c0031t0001 a0021c0026t0016 a0022c0033t0002 a0023c0016t0001 a0024c0015t0004	a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0014 others(109): Show a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0108 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0002g0033 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0096 a0002c0002t0002g0109 a0002c0002t0002g0125 a0002c0002t0005g0035 a0002c0002t0005g0074 a0002c0002t0005g0107 a0002c0002t0006g0005 a0002c0002t0010g0128 a0002c0002t0023g0063 a0002c0002t0024g0034 a0002c0012t0003g0009 a0002c0012t0028g0006 a0002c0034t0001g0099 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0165 a0003c0003t0002g0163 a0003c0003t0002g0177 a0004c0004t0001g0011 a0004c0004t0001g0032 a0004c0004t0001g0051 a0004c0004t0001g0052 a0004c0004t0001g0053 a0004c0004t0001g0057 a0004c0004t0001g0092 a0004c0004t0002g0085 a0004c0004t0004g0091 a0004c0004t0004g0093 a0004c0004t0008g0015 a0004c0004t0008g0016 a0004c0004t0008g0054 a0004c0004t0008g0055 a0004c0004t0008g0056 a0004c0004t0012g0058 a0004c0004t0021g0216 a0004c0004t0022g0050 a0006c0005t0001g0111 a0007c0007t0001g0013 a0007c0007t0001g0019 a0007c0007t0001g0023 a0007c0007t0001g0024 a0007c0007t0001g0025 a0007c0007t0001g0026 a0007c0007t0002g0028 a0007c0007t0014g0020 a0010c0011t0010g0276 a0010c0011t0010g0277 a0010c0011t0010g0278 a0013c0017t0001g0225 a0014c0018t0001g0137 a0015c0030t0001g0066 a0016c0029t0001g0072 a0017c0031t0001g0097 a0021c0026t0016g0110 a0022c0033t0002g0098 a0023c0016t0001g0002 a0024c0015t0004g0134	112	278	0.4029	-38	c.335 others(59): Show c.3358-35724_3358-35687delCACACACACACACACACACACACA CACACACACACACA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2154210	CAGAGTGT others(31): Show CAGAGTGTGACGGTGACTGGGAAACCTGGGGATGCATCT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03669.hp2 HG03688.hp2 others(3): Show HG01358.hp1 HG03669.hp2 HG03688.hp2 HG04199.hp1 HG04204.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0263 a0002c0002t0001g0042 a0002c0002t0001g0049 others(3): Show a0001c0001t0002g0263 a0002c0002t0001g0042 a0002c0002t0001g0049 a0002c0002t0001g0068 a0002c0002t0002g0047 a0002c0002t0002g0048	6	278	0.0216	-38	c.335 others(59): Show c.3357+18410_3357+18447delAGATGCATCCCCAGGTTTCCCAGT CACCGTCACACTCT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMIM1_chr1_3767749_3780956	3776909	TTCCCCCC others(31): Show TTCCCCCCACCCCGATCCTGGCCTCCAGTCCCAGCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	420	0.0024	-38	c.98 others(48): Show c.989_*1026delTCCCCCCACCCCGATCCTGGCCTCCAGTCCCAGCC CCC	SMIM1	ENSG00000235169.11	transcript	ENST00000642557.4	protein_coding		954		chr1	TogoVar
SMIM38_chr11_69150935_69167440	69154575	AGATCCAT others(31): Show AGATCCATCCTCAGAGGCCCGGGGCTGGGAGCATCCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(88): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01975.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02523.hp2 HG02622.hp2 HG02735.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03239.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18972.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19068.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0034 a0001c0001t0037 a0001c0001t0040 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0062 a0001c0001t0073	a0001c0001t0001g0037 a0001c0001t0003g0003 a0001c0001t0004g0005 others(29): Show a0001c0001t0001g0037 a0001c0001t0003g0003 a0001c0001t0004g0005 a0001c0001t0004g0036 a0001c0001t0006g0006 a0001c0001t0006g0026 a0001c0001t0006g0039 a0001c0001t0009g0003 a0001c0001t0009g0010 a0001c0001t0009g0042 a0001c0001t0010g0020 a0001c0001t0012g0003 a0001c0001t0012g0006 a0001c0001t0013g0003 a0001c0001t0013g0044 a0001c0001t0017g0017 a0001c0001t0018g0012 a0001c0001t0019g0012 a0001c0001t0023g0005 a0001c0001t0026g0003 a0001c0001t0034g0005 a0001c0001t0037g0003 a0001c0001t0040g0026 a0001c0001t0046g0003 a0001c0001t0051g0003 a0001c0001t0052g0003 a0001c0001t0055g0003 a0001c0001t0056g0003 a0001c0001t0058g0006 a0001c0001t0059g0006 a0001c0001t0062g0011 a0001c0001t0073g0046	91	438	0.2078	-38	c.-22 others(49): Show c.-2212_-2175delGATCCATCCTCAGAGGCCCGGGGCTGGGAGCATC CCCG	SMIM38	ENSG00000284713.2	transcript	ENST00000686237.1	protein_coding		1359		chr11	TogoVar
SMKR1_chr7_129497531_129517918	129502239	GCCCGCGC others(31): Show GCCCGCGCCCGCCCCCTCGCCCCGCGCCCGCCCCCTCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02647.hp2 HG02976.hp2 others(2): Show HG01123.hp2 HG02647.hp2 HG02976.hp2 HG03540.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0050 a0001c0001t0001g0091 a0003c0003t0001g0044 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0091 a0003c0003t0001g0044 a0003c0003t0001g0049 a0003c0003t0001g0061	5	422	0.0119	-38	c.-58 others(47): Show c.-585_-548delCCCGCGCCCGCCCCCTCGCCCCGCGCCCGCCCCCTC GC	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		291		chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063241	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18747.hp2 HG01884.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0138 a0001c0001t0006g0174 a0001c0001t0001g0138 a0001c0001t0006g0174	2	264	0.0076	-38	c.56- others(53): Show c.56-1442_56-1405delTATATATATATATATATATATATATATATA TATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD1_chr2_88062825_88118384	88065224	CCCTCCCC others(31): Show CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01361.hp1 HG01496.hp2 others(1): Show HG01123.hp2 HG01361.hp1 HG01496.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0003t0002 a0001c0003t0004 others(1): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0004 a0001c0005t0002	a0001c0001t0002g0174 a0001c0003t0002g0074 a0001c0003t0004g0063 others(1): Show a0001c0001t0002g0174 a0001c0003t0002g0074 a0001c0003t0004g0063 a0001c0005t0002g0180	4	338	0.0118	-38	c.-26 others(49): Show c.-2640_-2603delCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2600		chr2	TogoVar
SMYD2_chr1_214276159_214342131	214293011	TTGTGTGT others(31): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	380	0.0026	-38	c.173 others(57): Show c.173+11604_173+11641delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01934.hp1 others(22): Show HG01109.hp1 HG01243.hp2 HG01934.hp1 HG01952.hp1 HG02109.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp1 NA18942.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0004t0001 a0001c0001t0001 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0137 a0001c0001t0001g0138 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0181 a0001c0001t0006g0007 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0153 a0001c0004t0001g0001 a0001c0004t0001g0139 a0001c0004t0001g0141	25	258	0.0969	-38	c.732 others(53): Show c.732-450_732-413delATATATATATATATATATATATATATATAT ATATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNTG2_chr2_945849_1372613	965169	ACCCCAAT others(31): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02258.hp1 HG03490.hp2 others(1): Show HG00673.hp2 HG02258.hp1 HG03490.hp2 NA19000.hp1	a0003 a0004 a0003 a0004	a0003c0007 a0004c0004 a0004c0014 a0003c0007 a0004c0004 a0004c0014	a0003c0007t0001 a0004c0004t0001 a0004c0014t0001 a0003c0007t0001 a0004c0004t0001 a0004c0014t0001	a0003c0007t0001g0055 a0004c0004t0001g0040 a0004c0004t0001g0088 others(1): Show a0003c0007t0001g0055 a0004c0004t0001g0040 a0004c0004t0001g0088 a0004c0014t0001g0054	4	190	0.0211	-38	c.72+ others(55): Show c.72+14137_72+14174delGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965324	ACCCCAAT others(31): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0089 a0004c0004t0001g0089	1	190	0.0053	-38	c.72+ others(55): Show c.72+14292_72+14329delGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1255825	TATATATA others(31): Show TATATATAAATATATATAAATATATATAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01192.hp1 others(18): Show HG00735.hp1 HG01099.hp1 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG02683.hp1 HG02717.hp2 HG02922.hp1 HG02976.hp2 HG03471.hp2 HG03710.hp1 HG03942.hp2 NA18522.hp2 NA18942.hp2 NA18968.hp2 NA18986.hp1 NA18990.hp2 NA19000.hp2 homoSapiens_chm13v2.hp1	a0003 a0005 a0006 others(5): Show a0003 a0005 a0006 a0008 a0010 a0016 a0017 a0023	a0003c0007 a0003c0008 a0005c0006 others(6): Show a0003c0007 a0003c0008 a0005c0006 a0006c0010 a0008c0011 a0010c0012 a0016c0034 a0017c0031 a0023c0027	a0003c0007t0001 a0003c0008t0001 a0005c0006t0001 others(6): Show a0003c0007t0001 a0003c0008t0001 a0005c0006t0001 a0006c0010t0001 a0008c0011t0001 a0010c0012t0001 a0016c0034t0001 a0017c0031t0001 a0023c0027t0001	a0003c0007t0001g0018 a0003c0007t0001g0068 a0003c0007t0001g0080 others(18): Show a0003c0007t0001g0018 a0003c0007t0001g0068 a0003c0007t0001g0080 a0003c0008t0001g0013 a0003c0008t0001g0044 a0003c0008t0001g0060 a0003c0008t0001g0095 a0003c0008t0001g0106 a0005c0006t0001g0176 a0005c0006t0001g0189 a0006c0010t0001g0006 a0008c0011t0001g0004 a0008c0011t0001g0128 a0008c0011t0001g0182 a0008c0011t0001g0188 a0010c0012t0001g0096 a0010c0012t0001g0147 a0010c0012t0001g0166 a0016c0034t0001g0146 a0017c0031t0001g0110 a0023c0027t0001g0127	21	190	0.1105	-38	c.100 others(57): Show c.1006-3537_1006-3500delAATATATATAAATATATATAAATATA TATAAATATATA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX13_chr7_17785761_17945494	17801009	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(205): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0002c0009 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0002t0001 a0001c0007t0001 a0001c0010t0014 a0002c0009t0001 a0003c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 others(204): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0002g0336 a0001c0001t0003g0184 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0217 a0001c0001t0003g0246 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0120 a0001c0001t0004g0149 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0005g0008 a0001c0001t0005g0078 a0001c0001t0005g0138 a0001c0001t0005g0144 a0001c0001t0010g0140 a0001c0001t0010g0141 a0001c0001t0010g0235 a0001c0001t0016g0252 a0001c0001t0016g0253 a0001c0001t0018g0218 a0001c0001t0019g0145 a0001c0001t0020g0193 a0001c0001t0021g0136 a0001c0001t0022g0212 a0001c0001t0026g0251 a0001c0001t0028g0083 a0001c0001t0031g0244 a0001c0002t0001g0036 a0001c0002t0001g0292 a0001c0007t0001g0181 a0001c0010t0014g0018 a0002c0009t0001g0055 a0003c0012t0001g0182	208	338	0.6154	-38	c.229 others(55): Show c.2298+541_2298+578delATATATATATATATATATATATATATAT ATATATATAT	SNX13	ENSG00000071189.21	transcript	ENST00000428135.7	protein_coding	22/25			chr7	TogoVar
SNX16_chr8_81794583_81847185	81842523	AGAAAGAG others(31): Show AGAAAGAGAAAGAAAACGAGCGAGGGAGAGAGCGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG02273.hp1 others(6): Show HG01928.hp2 HG01943.hp1 HG02273.hp1 HG03688.hp2 NA18944.hp1 NA18983.hp2 NA19007.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003	a0001c0001t0002g0002 a0001c0001t0002g0167 a0001c0001t0002g0180 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0167 a0001c0001t0002g0180 a0001c0001t0002g0205 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0002t0003g0011 a0001c0002t0003g0014 a0001c0002t0003g0098	9	306	0.0294	-38	c.-53 others(47): Show c.-536_-499delGCTCTCGCTCTCTCCCTCGCTCGTTTTCTTTCTCTT TC	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		339		chr8	TogoVar
SOBP_chr6_107485117_107666306	107656332	AAAGAAAG others(31): Show AAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp1 HG02970.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0263 a0001c0001t0005g0139 a0001c0001t0005g0263	2	296	0.0068	-38	c.4- others(53): Show c.4-1871_*4-1834delAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG AAAGTAAG	SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOHLH2_chr13_36163217_36219556	36209568	TAAGGCAC others(31): Show TAAGGCACTAATCCCATTCACAAGGGCTCCTCCCTTATG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0212 a0001c0003t0001g0212	1	420	0.0024	-38	c.48+ others(53): Show c.48+4873_48+4910delCATAAGGGAGGAGCCCTTGTGAATGGGATT AGTGCCTT	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	1/10			chr13	TogoVar
SON_chr21_33538038_33582481	33577603	CTACACAC others(31): Show CTACACACACACACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	364	0.0028	-38	c.11 others(49): Show c.1180_*1217delTACACACACACACACACACACACACACACACACA CACA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		123		chr21	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG02055.hp1 HG02258.hp1 others(9): Show HG01517.hp1 HG02055.hp1 HG02258.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03704.hp1 NA18947.hp1 NA18951.hp2 NA18981.hp1 NA19006.hp1 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0081 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0166 a0001c0002t0001g0002 a0001c0002t0001g0135 a0002c0003t0001g0004 a0002c0003t0001g0017 a0002c0003t0001g0182	12	364	0.0330	-38	c.11 others(49): Show c.1181_*1218delACACACACACACACACACACACACACACACACAC ACAC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		124		chr21	TogoVar
SORBS2_chr4_185580523_185817194	185731858	CTCTCTCT others(31): Show CTCTCTCTCTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0035 a0001c0001t0057g0035	1	312	0.0032	-38	c.-41 others(55): Show c.-41+2203_-41+2240delTATATATATATATATATATATATATATA TAGAGAGAGA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185735941	CTATTACA others(31): Show CTATTACAGCAAGCTCTTTTCCAAGTTCTTATATCAATA	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	312	0.0032	-38	c.-96 others(55): Show c.-96-1825_-96-1788delTATTGATATAAGAACTTGGAAAAGAGCT TGCTGTAATA	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7454389	TGTGTGTT others(31): Show TGTGTGTTGGGGTCAGGTGCTGTGTTGGGGTCAGGCTCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0076 a0001c0010t0076	a0001c0010t0076g0163 a0001c0010t0076g0163	1	168	0.0060	-38	c.548 others(57): Show c.548+58039_548+58076delGTTGGGGTCAGGTGCTGTGTTGGGGT CAGGCTCCGTGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7661212	CCCAACCC others(31): Show CCCAACCCCCTCAGCTCACGTAAGGAAGATGCAGAGACT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01106.hp1 others(18): Show HG00438.hp1 HG00642.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01952.hp2 HG02040.hp2 HG02056.hp1 HG02109.hp2 HG02148.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02615.hp1 HG02622.hp2 HG03209.hp1 HG04115.hp1 NA18962.hp2 NA18966.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0017 a0001c0026 a0001c0036 a0001c0041 a0001c0047 a0001c0049 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(18): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0041 a0001c0003t0008 a0001c0003t0010 a0001c0003t0022 a0001c0003t0052 a0001c0005t0007 a0001c0011t0017 a0001c0017t0016 a0001c0026t0062 a0001c0036t0044 a0001c0041t0013 a0001c0047t0071 a0001c0049t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0014 a0002c0004t0056	a0001c0001t0003g0098 a0001c0001t0005g0067 a0001c0001t0006g0111 others(18): Show a0001c0001t0003g0098 a0001c0001t0005g0067 a0001c0001t0006g0111 a0001c0002t0041g0096 a0001c0003t0008g0135 a0001c0003t0010g0021 a0001c0003t0022g0043 a0001c0003t0052g0147 a0001c0005t0007g0065 a0001c0011t0017g0120 a0001c0017t0016g0124 a0001c0026t0062g0049 a0001c0036t0044g0022 a0001c0041t0013g0031 a0001c0047t0071g0051 a0001c0049t0001g0059 a0002c0004t0002g0013 a0002c0004t0003g0095 a0002c0004t0006g0136 a0002c0004t0014g0083 a0002c0004t0056g0134	21	168	0.1250	-38	c.888 others(53): Show c.888-269_888-232delGTAAGGAAGATGCAGAGACTCCAACCCCCT CAGCTCAC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7661241	TGCAGAGA others(31): Show TGCAGAGACTCCAACCCCCTCAGCTCACTCAAGGAAAAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp2 HG01169.hp1 others(25): Show HG00323.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01361.hp1 HG01891.hp2 HG02109.hp1 HG02132.hp2 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03239.hp1 HG03471.hp1 HG03942.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp2 NA20752.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0009 a0013 a0015 a0018	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0016 a0003c0013 a0003c0035 a0003c0042 a0004c0007 a0005c0008 a0005c0045 a0009c0025 a0013c0032 a0015c0023 a0018c0055	a0001c0001t0004 a0001c0001t0005 a0001c0001t0025 others(24): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0025 a0001c0001t0032 a0001c0001t0050 a0001c0001t0057 a0001c0001t0068 a0001c0002t0003 a0001c0002t0005 a0001c0003t0016 a0001c0005t0001 a0001c0006t0001 a0001c0010t0027 a0001c0010t0073 a0001c0010t0076 a0001c0016t0013 a0003c0013t0021 a0003c0013t0033 a0003c0035t0007 a0003c0042t0003 a0004c0007t0001 a0005c0008t0001 a0005c0045t0001 a0009c0025t0031 a0013c0032t0030 a0015c0023t0008 a0018c0055t0048	a0001c0001t0004g0097 a0001c0001t0005g0130 a0001c0001t0025g0071 others(25): Show a0001c0001t0004g0097 a0001c0001t0005g0130 a0001c0001t0025g0071 a0001c0001t0025g0072 a0001c0001t0032g0141 a0001c0001t0050g0106 a0001c0001t0057g0094 a0001c0001t0068g0007 a0001c0002t0003g0131 a0001c0002t0005g0069 a0001c0003t0016g0091 a0001c0005t0001g0156 a0001c0006t0001g0119 a0001c0010t0027g0105 a0001c0010t0073g0167 a0001c0010t0076g0163 a0001c0016t0013g0039 a0003c0013t0021g0100 a0003c0013t0033g0041 a0003c0035t0007g0075 a0003c0042t0003g0066 a0004c0007t0001g0026 a0005c0008t0001g0006 a0005c0045t0001g0148 a0009c0025t0031g0025 a0013c0032t0030g0149 a0015c0023t0008g0122 a0018c0055t0048g0150	28	168	0.1667	-38	c.888 others(53): Show c.888-207_888-170delCCCCCTCAGCTCACTCAAGGAAAACGCAGA GACTCCAA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOWAHB_chr4_76889152_76903144	76895148	GGGACTCC others(31): Show GGGACTCCTGCTTCAGGAAACAATATGGCTTACTGTGCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0000 a0001c0001t0019g0000	1	438	0.0023	-38	c.28 others(47): Show c.282_*319delGGCACAGTAAGCCATATTGTTTCCTGAAGCAGGAGT CC	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding	1/1	282		chr4	TogoVar
SOX11_chr2_5687384_5706385	5706244	AGAGGAGC others(31): Show AGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0000 a0001c0001t0150g0000	1	434	0.0023	-38	c.12 others(51): Show c.12198_*12235delGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGG GAGGCT	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4860		chr2	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	412	0.0024	-38	c.21 others(49): Show c.2120_*2157delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding		998		chr3	TogoVar
SP3_chr2_173895775_173970373	173935854	ACAACGGA others(31): Show ACAACGGATTCATCTCTTGTATTCCTGATAGCTAATCAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02572.hp1 others(10): Show HG01884.hp1 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp2 HG03540.hp2 HG03579.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0001t0075 a0001c0001t0076 others(4): Show a0001c0001t0010 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0005t0074 a0001c0005t0097 a0001c0005t0098	a0001c0001t0010g0096 a0001c0001t0010g0098 a0001c0001t0010g0099 others(10): Show a0001c0001t0010g0096 a0001c0001t0010g0098 a0001c0001t0010g0099 a0001c0001t0010g0100 a0001c0001t0010g0101 a0001c0001t0010g0312 a0001c0001t0010g0328 a0001c0001t0075g0288 a0001c0001t0076g0097 a0001c0001t0077g0190 a0001c0005t0074g0191 a0001c0005t0097g0341 a0001c0005t0098g0340	13	356	0.0365	-38	c.164 others(59): Show c.1640-17107_1640-17070delGTGATTAGCTATCAGGAATACAAG AGATGAATCCGTTG	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SPACA7_chr13_112371355_112439689	112383111	AAAAGAAA others(31): Show AAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02132.hp1 NA18962.hp2 others(5): Show HG00621.hp1 HG02132.hp1 NA18962.hp2 NA18975.hp2 NA19054.hp1 NA19062.hp1 NA19079.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 others(5): Show a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0263	8	391	0.0205	-38	c.94+ others(53): Show c.94+6640_94+6677delAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	213643346	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG03239.hp1 others(3): Show HG01891.hp1 HG02559.hp2 HG03239.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0006 a0001c0001 a0004c0004 a0006c0006	a0001c0001t0001 a0004c0004t0001 a0006c0006t0001 a0001c0001t0001 a0004c0004t0001 a0006c0006t0001	a0001c0001t0001g0013 a0004c0004t0001g0020 a0004c0004t0001g0021 others(3): Show a0001c0001t0001g0013 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 a0006c0006t0001g0024	6	86	0.0698	-38	c.107 others(61): Show c.1070+153258_1070+153295delTTATATATATATATATATATAT ATATATATATATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213863133	TTCATTTG others(31): Show TTCATTTGTACCTAAAAGACCAAGGGCACAGAAGGGAGA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20129.hp2 HG02976.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0001g0002 a0001c0001t0002g0001	2	86	0.0233	-38	c.121 others(55): Show c.1214+511_1214+548delTGTACCTAAAAGACCAAGGGCACAGAAG GGAGATCATT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG03098.hp1 others(3): Show HG01243.hp1 HG02055.hp1 HG03098.hp1 HG03139.hp2 HG03471.hp2 NA19240.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0001 a0003c0004 a0009c0017 a0002c0001 a0003c0004 a0009c0017	a0002c0001t0001 a0003c0004t0001 a0003c0004t0005 others(1): Show a0002c0001t0001 a0003c0004t0001 a0003c0004t0005 a0009c0017t0001	a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0010 others(3): Show a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0010 a0003c0004t0001g0250 a0003c0004t0005g0254 a0009c0017t0001g0249	6	366	0.0164	-38	c.153 others(57): Show c.1535+1095_1535+1132delATATATATATATATATATATATATAT ATATATATATAT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAST_chr2_32058556_32162637	32110854	GAGTATAT others(31): Show GAGTATATATACAGTATACTATATCGTGTGTATAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp1 NA18906.hp1 HG02258.hp1 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008	3	342	0.0088	-38	c.683 others(55): Show c.683-3783_683-3746delAGTATATATACAGTATACTATATCGTGT GTATAGAGTA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16			chr2	TogoVar
SPATA25_chr20_45881491_45892622	45891658	CGACCAGG others(31): Show CGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-38	c.-41 others(49): Show c.-4106_-4069delTTGGCCAGCCCGGGGAGGCGCTGGATCTCGTCCT GGTC	SPATA25	ENSG00000149634.5	transcript	ENST00000372519.4	protein_coding		4037		chr20	TogoVar
SPATA32_chr17_45249393_45267094	45262511	GGCACCCC others(31): Show GGCACCCCGTGTGCCCCAGCTCCATGACCAAGGAACTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01515.hp1 HG02572.hp1 others(3): Show HG01099.hp1 HG01515.hp1 HG02572.hp1 HG03654.hp2 HG03927.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0089 a0002c0002t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0089 a0002c0002t0001g0001	6	414	0.0145	-38	c.-53 others(47): Show c.-533_-496delTGAGTTCCTTGGTCATGGAGCTGGGGCACACGGGGT GC	SPATA32	ENSG00000184361.13	transcript	ENST00000331780.5	protein_coding		418		chr17	TogoVar
SPATC1L_chr21_46156160_46189459	46169551	TCCTGCTC others(31): Show TCCTGCTCTGTGTACATCCTCTGTGGATGGGGAGGAGCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01981.hp1 HG02257.hp2 others(17): Show HG01361.hp2 HG01981.hp1 HG02257.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02735.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03239.hp2 HG03492.hp1 HG03688.hp2 HG03831.hp2 HG04184.hp1 HG04228.hp2 NA18906.hp1 NA19043.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0007 a0001c0001 a0001c0003 a0007c0007	a0001c0001t0019 a0001c0001t0020 a0001c0003t0005 others(2): Show a0001c0001t0019 a0001c0001t0020 a0001c0003t0005 a0001c0003t0009 a0007c0007t0014	a0001c0001t0019g0062 a0001c0001t0020g0061 a0001c0001t0020g0063 others(16): Show a0001c0001t0019g0062 a0001c0001t0020g0061 a0001c0001t0020g0063 a0001c0003t0005g0024 a0001c0003t0005g0025 a0001c0003t0005g0026 a0001c0003t0005g0027 a0001c0003t0005g0028 a0001c0003t0005g0029 a0001c0003t0005g0030 a0001c0003t0005g0031 a0001c0003t0005g0032 a0001c0003t0005g0033 a0001c0003t0009g0008 a0001c0003t0009g0036 a0001c0003t0009g0037 a0001c0003t0009g0038 a0007c0007t0014g0054 a0007c0007t0014g0055	20	251	0.0797	-38	c.194 others(53): Show c.194-931_194-894delGGCTCCTCCCCATCCACAGAGGATGTACAC AGAGCAGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPATS2L_chr2_200301693_200487264	200352311	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(145): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0002t0016 a0001c0002t0069 a0001c0003t0001 a0001c0003t0024 a0001c0003t0028 a0001c0003t0038 a0001c0005t0029 a0002c0004t0068	a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0202 others(145): Show a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0157 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0209 a0001c0001t0002g0215 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0292 a0001c0001t0003g0030 a0001c0001t0003g0056 a0001c0001t0003g0066 a0001c0001t0004g0028 a0001c0001t0005g0156 a0001c0001t0005g0186 a0001c0001t0005g0217 a0001c0001t0005g0254 a0001c0001t0005g0259 a0001c0001t0005g0271 a0001c0001t0007g0171 a0001c0001t0007g0172 a0001c0001t0007g0184 a0001c0001t0007g0218 a0001c0001t0007g0229 a0001c0001t0007g0289 a0001c0001t0008g0015 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0027 a0001c0001t0008g0054 a0001c0001t0008g0063 a0001c0001t0008g0080 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0155 a0001c0001t0009g0160 a0001c0001t0009g0162 a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0009g0166 a0001c0001t0009g0176 a0001c0001t0011g0158 a0001c0001t0011g0205 a0001c0001t0011g0248 a0001c0001t0011g0295 a0001c0001t0015g0170 a0001c0001t0015g0188 a0001c0001t0015g0297 a0001c0001t0018g0024 a0001c0001t0018g0055 a0001c0001t0018g0079 a0001c0001t0018g0126 a0001c0001t0022g0263 a0001c0001t0022g0264 a0001c0001t0022g0267 a0001c0001t0023g0273 a0001c0001t0025g0239 a0001c0001t0025g0247 a0001c0001t0026g0236 a0001c0001t0026g0237 a0001c0001t0027g0178 a0001c0001t0027g0276 a0001c0001t0028g0206 a0001c0001t0031g0021 a0001c0001t0031g0052 a0001c0001t0035g0060 a0001c0001t0035g0061 a0001c0001t0036g0034 a0001c0001t0036g0076 a0001c0001t0037g0059 a0001c0001t0037g0064 a0001c0001t0039g0266 a0001c0001t0040g0197 a0001c0001t0041g0283 a0001c0001t0042g0189 a0001c0001t0043g0277 a0001c0001t0044g0261 a0001c0001t0046g0290 a0001c0001t0051g0149 a0001c0001t0052g0165 a0001c0001t0053g0167 a0001c0001t0054g0296 a0001c0001t0055g0293 a0001c0001t0056g0294 a0001c0001t0057g0298 a0001c0001t0072g0058 a0001c0001t0073g0090 a0001c0001t0074g0062 a0001c0001t0076g0091 a0001c0001t0077g0073 a0001c0001t0078g0057 a0001c0001t0079g0081 a0001c0001t0080g0016 a0001c0002t0016g0279 a0001c0002t0016g0280 a0001c0002t0016g0281 a0001c0002t0016g0282 a0001c0002t0016g0284 a0001c0002t0069g0053 a0001c0003t0001g0243 a0001c0003t0001g0250 a0001c0003t0001g0256 a0001c0003t0001g0258 a0001c0003t0001g0269 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0278 a0001c0003t0024g0169 a0001c0003t0024g0242 a0001c0003t0024g0270 a0001c0003t0028g0210 a0001c0003t0038g0168 a0001c0005t0029g0231 a0002c0004t0068g0002	148	300	0.4933	-38	c.-23 others(57): Show c.-23+22833_-23+22870delTTATATATATATATATATATATATAT ATATATATATAT	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819839	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG06807.hp2 others(1): Show HG01884.hp1 HG02451.hp1 HG06807.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 others(1): Show a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027	4	338	0.0118	-38	c.294 others(53): Show c.294+735_294+772delAAAAAAAAAATATATATATATATATATATA TATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819841	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0330 a0002c0002t0002g0330	1	338	0.0030	-38	c.294 others(53): Show c.294+737_294+774delAAAAAAAATATATATATATATATATATATA TATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73156132	ACACACAC others(31): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	216	0.0046	-38	c.-14 others(49): Show c.-1487_-1450delAGACAGACAGAGAGAGAGAGAGAGAGAGAGAGTG TGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		702		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156134	ACACACTC others(31): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01978.hp1 others(6): Show HG00673.hp2 HG00735.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp1 NA18989.hp1 NA18992.hp1 NA19012.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 a0001c0002 a0001c0005 a0002c0004	a0001c0002t0001 a0001c0005t0001 a0002c0004t0001 a0001c0002t0001 a0001c0005t0001 a0002c0004t0001	a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0084 others(6): Show a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0005t0001g0004 a0002c0004t0001g0113	9	216	0.0417	-38	c.-14 others(49): Show c.-1489_-1452delAGAGACAGACAGAGAGAGAGAGAGAGAGAGAGAG TGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		704		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156136	ACACTCTC others(31): Show ACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG03195.hp2 others(3): Show HG02258.hp1 HG02965.hp2 HG03195.hp2 HG03540.hp2 HG03579.hp2 HG03834.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0008 a0001c0002 a0002c0003 a0004c0008	a0001c0002t0001 a0002c0003t0004 a0004c0008t0004 a0001c0002t0001 a0002c0003t0004 a0004c0008t0004	a0001c0002t0001g0069 a0002c0003t0004g0054 a0002c0003t0004g0056 others(3): Show a0001c0002t0001g0069 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0057 a0004c0008t0004g0051 a0004c0008t0004g0053	6	216	0.0278	-38	c.-14 others(49): Show c.-1491_-1454delAGAGAGACAGACAGAGAGAGAGAGAGAGAGAGAG AGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		706		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(31): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0135 a0003c0006t0005g0135	1	216	0.0046	-38	c.-14 others(49): Show c.-1493_-1456delAGAGAGAGACAGACAGAGAGAGAGAGAGAGAGAG AGAG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		708		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270302	TGTATATA others(31): Show TGTATATATATACATATATATATACGTATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00438.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0208 a0001c0001t0001g0209	2	326	0.0061	-38	c.-82 others(47): Show c.-822_-785delGTATATATATACATATATATATACGTATATATATAT AC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		528		chr22	TogoVar
SPEF2_chr5_35612863_35819611	35734401	ATTCTCTT others(31): Show ATTCTCTTGGGCCACTCATAAAATACACTAACACCAATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(81): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02056.hp1 HG02109.hp1 HG02148.hp1 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18963.hp1 NA18966.hp2 NA18971.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA19001.hp1 NA19007.hp2 NA19011.hp1 NA19079.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0004 a0005 others(12): Show a0001 a0004 a0005 a0006 a0007 a0009 a0011 a0016 a0017 a0021 a0024 a0033 a0034 a0036 a0040	a0001c0002 a0001c0003 a0004c0005 others(17): Show a0001c0002 a0001c0003 a0004c0005 a0004c0012 a0004c0038 a0005c0006 a0006c0007 a0006c0008 a0007c0011 a0007c0044 a0009c0013 a0011c0010 a0016c0018 a0017c0019 a0021c0047 a0024c0046 a0033c0028 a0034c0026 a0036c0029 a0040c0032	a0001c0002t0001 a0001c0003t0001 a0004c0005t0001 others(17): Show a0001c0002t0001 a0001c0003t0001 a0004c0005t0001 a0004c0012t0001 a0004c0038t0001 a0005c0006t0001 a0006c0007t0001 a0006c0008t0001 a0007c0011t0001 a0007c0044t0001 a0009c0013t0001 a0011c0010t0001 a0016c0018t0001 a0017c0019t0001 a0021c0047t0001 a0024c0046t0001 a0033c0028t0001 a0034c0026t0001 a0036c0029t0001 a0040c0032t0001	a0001c0002t0001g0007 a0001c0002t0001g0020 a0001c0002t0001g0045 others(78): Show a0001c0002t0001g0007 a0001c0002t0001g0020 a0001c0002t0001g0045 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0091 a0001c0002t0001g0199 a0001c0003t0001g0035 a0001c0003t0001g0037 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0004c0005t0001g0064 a0004c0012t0001g0170 a0004c0012t0001g0234 a0004c0038t0001g0198 a0005c0006t0001g0001 a0005c0006t0001g0172 a0005c0006t0001g0173 a0005c0006t0001g0174 a0005c0006t0001g0175 a0005c0006t0001g0176 a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180 a0005c0006t0001g0256 a0005c0006t0001g0257 a0006c0007t0001g0171 a0006c0007t0001g0181 a0006c0007t0001g0182 a0006c0007t0001g0183 a0006c0007t0001g0186 a0006c0007t0001g0187 a0006c0007t0001g0188 a0006c0008t0001g0025 a0006c0008t0001g0039 a0006c0008t0001g0040 a0006c0008t0001g0072 a0006c0008t0001g0090 a0007c0011t0001g0142 a0007c0011t0001g0143 a0007c0011t0001g0144 a0007c0011t0001g0147 a0007c0044t0001g0146 a0009c0013t0001g0194 a0011c0010t0001g0012 a0011c0010t0001g0047 a0011c0010t0001g0048 a0011c0010t0001g0070 a0016c0018t0001g0151 a0016c0018t0001g0152 a0017c0019t0001g0015 a0017c0019t0001g0105 a0021c0047t0001g0132 a0024c0046t0001g0252 a0033c0028t0001g0190 a0034c0026t0001g0191 a0036c0029t0001g0041 a0040c0032t0001g0023	84	268	0.3134	-38	c.306 others(57): Show c.3064-5517_3064-5480delTTCTCTTGGGCCACTCATAAAATACA CTAACACCAATG	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	21/36			chr5	TogoVar
SPIB_chr19_50413938_50436314	50435046	CCTGGACT others(31): Show CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18959.hp1 NA18973.hp1 others(1): Show NA18954.hp1 NA18959.hp1 NA18973.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	4	388	0.0103	-38	c.67 others(49): Show c.6711_*6748delCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGGT	SPIB	ENSG00000269404.7	transcript	ENST00000595883.6	protein_coding		3733		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38259625	ATATATAT others(31): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	400	0.0025	-38	c.-52 others(49): Show c.-5267_-5230delTATATATATATATATTTTTTTTTTTTTTTTTTTT TTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4947		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38259627	ATATATAT others(31): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 NA19030.hp2 NA20300.hp1 HG03130.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0170 a0001c0001t0002g0307 a0001c0001t0002g0327 a0001c0001t0001g0170 a0001c0001t0002g0307 a0001c0001t0002g0327	3	400	0.0075	-38	c.-52 others(49): Show c.-5265_-5228delTATATATATATATTTTTTTTTTTTTTTTTTTTTT TTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4945		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38259629	ATATATAT others(31): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00673.hp2 others(33): Show HG00544.hp2 HG00609.hp1 HG00673.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG02055.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02615.hp2 HG02647.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 NA18747.hp1 NA18943.hp2 NA18945.hp2 NA18950.hp1 NA18959.hp2 NA18962.hp2 NA18970.hp2 NA18975.hp1 NA18985.hp2 NA18992.hp2 NA18997.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19070.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0038 others(24): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0007g0040	36	400	0.0900	-38	c.-52 others(49): Show c.-5263_-5226delTATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4943		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38259631	ATATATAT others(31): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01346.hp1 HG01358.hp2 others(5): Show HG00733.hp2 HG01346.hp1 HG01358.hp2 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02300.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0250 a0001c0001t0002g0316 others(4): Show a0001c0001t0002g0039 a0001c0001t0002g0250 a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0325	8	400	0.0200	-38	c.-52 others(49): Show c.-5261_-5224delTATATATATTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4941		chr19	TogoVar
SPIRE2_chr16_89823475_89876319	89852037	TGGCCCAT others(31): Show TGGCCCATCTTCCATCCTCCCCCAACCCGCCAGATCCCC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0012 a0001c0006t0001g0012	1	356	0.0028	-38	c.645 others(55): Show c.645+1378_645+1415delGGCCCATCTTCCATCCTCCCCCAACCCG CCAGATCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar

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