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
STK33_chr11_8386870_8599228	8553174	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATGGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19078.hp1 HG01175.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0090 a0001c0001t0002g0006 a0001c0001t0002g0090	2	334	0.0060	29	c.-46 others(50): Show c.-466+40908_-466+40909insCACCATATATATATATATATATAT ATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8553201	G G	GTATATAT others(22): Show GTATATATATATATATATATATATGGTGTA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	334	0.0030	29	c.-46 others(50): Show c.-466+40881_-466+40882insTACACCATATATATATATATATAT ATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8572045	T T	TAAATTTT others(22): Show TAAATTTTAATTTTAAAAAATAAACAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02886.hp1 others(2): Show HG02486.hp2 HG02559.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0152 a0001c0001t0004g0153 others(1): Show a0001c0001t0004g0001 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154	5	334	0.0150	29	c.-46 others(50): Show c.-466+22037_-466+22038insTTTTTGTTTATTTTTTAAAATTAA AATTT	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK38L_chr12_27239286_27330959	27241070	A A	ATATATAT others(22): Show ATATATATTACATATATGACTATGTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03139.hp2 HG02257.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	2	374	0.0054	29	c.-32 others(40): Show c.-3274_-3273insTATATATTACATATATGACTATGTATAGT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3215		chr12	TogoVar
STK39_chr2_167949022_168252595	168018538	A A	AAAAGAAA others(22): Show AAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19086.hp2 NA19083.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0079 a0002c0002t0002g0081	2	270	0.0074	29	c.137 others(48): Show c.1377-1444_1377-1443insCTTTCTTTCTTTCTTTCTTTTCTTTC TTT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	14/17			chr2	TogoVar
STK39_chr2_167949022_168252595	168242560	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	270	0.0037	29	c.208 others(46): Show c.208+4667_208+4668insATATATATATATATATATTTTTTTTTTT T	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/17			chr2	TogoVar
STK39_chr2_167949022_168252595	168242560	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	270	0.0037	29	c.208 others(46): Show c.208+4667_208+4668insATATATATATATATATATATTTTTTTTT T	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/17			chr2	TogoVar
STK39_chr2_167949022_168252595	168242560	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	270	0.0037	29	c.208 others(46): Show c.208+4667_208+4668insATATATATATATATATATATATATTTTT T	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/17			chr2	TogoVar
STK3_chr8_98449633_98830688	98484082	C C	CTTAAAGA others(22): Show CTTAAAGACTTAATACTAAGTCTTTAAGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(74): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02074.hp2 HG02080.hp1 HG02145.hp1 HG02165.hp1 HG02280.hp2 HG02559.hp1 HG02602.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03579.hp2 HG03942.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18960.hp2 NA18963.hp2 NA18968.hp2 NA18982.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19064.hp1 NA19066.hp1 NA19077.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0166 others(74): Show a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0166 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0003g0003 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0002t0002g0021 a0001c0002t0002g0065	77	170	0.4529	29	c.131 others(50): Show c.1318-28111_1318-28083dupTACTTAAAGACTTAGTATTAAGTC TTTAA	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	10/10			chr8	TogoVar
STK4_chr20_44961512_45085021	45011730	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01517.hp2 HG02735.hp1 HG00639.hp2 HG01517.hp2 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0036 a0002c0002t0003 a0002c0002t0007 a0002c0002t0036	a0002c0002t0003g0166 a0002c0002t0007g0164 a0002c0002t0036g0167 a0002c0002t0003g0166 a0002c0002t0007g0164 a0002c0002t0036g0167	3	328	0.0092	29	c.114 others(50): Show c.1147+10377_1147+10378insATATATATATATATATATATATAT ATATA	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	9/10			chr20	TogoVar
STK4_chr20_44961512_45085021	45062989	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	328	0.0031	29	c.130 others(50): Show c.1306-12027_1306-11999dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
STMND1_chr6_17097050_17136378	17126070	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	428	0.0023	29	c.412 others(46): Show c.412-3041_412-3040insATATATATATATATATATATATATATAT T	STMND1	ENSG00000230873.9	transcript	ENST00000536551.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
STON1_chr2_48525154_48603513	48556121	T T	TCCTCACT others(22): Show TCCTCACTTCCCAGTAGGGGCGGCCGGGCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0038 a0013c0021t0001g0038	1	376	0.0027	29	c.-47 others(48): Show c.-47-24466_-47-24465insCCTCACTTCCCAGTAGGGGCGGCCGG GCA	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3			chr2	TogoVar
STRADA_chr17_63697832_63746799	63739776	A A	ATATATAC others(22): Show ATATATACATATAATGTACATAATTATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01243.hp2 others(6): Show HG01109.hp2 HG01123.hp2 HG01243.hp2 HG02723.hp1 HG03098.hp1 HG03486.hp2 NA18965.hp1 NA19080.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0223 a0001c0001t0001g0287 a0001c0001t0001g0303 others(6): Show a0001c0001t0001g0223 a0001c0001t0001g0287 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0222 a0001c0001t0002g0249 a0001c0001t0002g0288 a0001c0001t0003g0157 a0001c0001t0003g0179	9	324	0.0278	29	c.-45 others(46): Show c.-45+1936_-45+1964dupCATATAATTATGTACATTATATGTATAT A	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRN3_chr14_30888804_31031379	31013889	T T	TATTATTA others(22): Show TATTATTATTATTATTTGAGACAGAGTGTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp2 HG01981.hp2 others(2): Show HG00642.hp1 HG01346.hp2 HG01981.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0007 a0001c0004t0006 a0001c0004t0007	a0001c0004t0006g0081 a0001c0004t0006g0082 a0001c0004t0007g0080 others(2): Show a0001c0004t0006g0081 a0001c0004t0006g0082 a0001c0004t0007g0080 a0001c0004t0007g0083 a0001c0004t0007g0084	5	364	0.0137	29	c.282 others(48): Show c.282+12014_282+12015insGACACTCTGTCTCAAATAATAATAAT AAT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STRN_chr2_36832698_36971536	36948081	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0232 a0001c0001t0082g0232	1	302	0.0033	29	c.234 others(48): Show c.234+18120_234+18148dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	1/17			chr2	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0118 a0002c0002t0003g0118	1	380	0.0026	29	c.205 others(46): Show c.205+3503_205+3504insATATATATATTTTTTTTTTTTTTTTTTT T	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	380	0.0026	29	c.205 others(46): Show c.205+3503_205+3504insATATATATATATTTTTTTTTTTTTTTTT T	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02486.hp2 HG02622.hp2 HG01175.hp1 HG02486.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0018 a0002c0002t0002 a0002c0002t0018	a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0018g0073 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0018g0073	3	380	0.0079	29	c.205 others(46): Show c.205+3503_205+3504insATATATATATATATTTTTTTTTTTTTTT T	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	380	0.0026	29	c.205 others(46): Show c.205+3503_205+3504insATATATATATATATATATATTTTTTTTT T	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG02055.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0038 a0002c0002t0002 a0002c0002t0038	a0002c0002t0002g0286 a0002c0002t0038g0321 a0002c0002t0002g0286 a0002c0002t0038g0321	2	380	0.0053	29	c.205 others(46): Show c.205+3503_205+3504insATATATATATATATATATATATATTTTT T	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	380	0.0026	29	c.205 others(46): Show c.205+3503_205+3504insATATATATATATATATATATATATATAT A	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181023050	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	350	0.0029	29	c.-37 others(38): Show c.-378_-377insAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		181		chr1	TogoVar
STX8_chr17_9245471_9580820	9339070	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0095 a0001c0004t0001g0095	1	188	0.0053	29	c.643 others(48): Show c.643+39481_643+39482insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9430124	T T	TAAATATA others(22): Show TAAATATAAAATATATATAATTTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp1 others(7): Show HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG03453.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002	a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0002t0001g0037 others(7): Show a0001c0002t0001g0007 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0070 a0001c0002t0002g0024 a0001c0003t0001g0032 a0001c0004t0001g0106 a0001c0004t0001g0125 a0001c0004t0001g0144 a0001c0004t0002g0111	10	188	0.0532	29	c.542 others(48): Show c.542-51500_542-51472dupTATATATAAATTATATATATTTTATA TTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9430163	A A	ATATAATT others(22): Show ATATAATTTATATATAAATAAAATATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01069.hp2 others(10): Show HG00323.hp1 HG00642.hp1 HG01069.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp2 HG01993.hp2 HG02738.hp2 HG03017.hp2 HG03486.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0006t0001	a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0002g0116 others(10): Show a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0137 a0001c0003t0001g0006 a0001c0003t0001g0031 a0001c0003t0001g0066 a0001c0003t0002g0018 a0001c0004t0002g0145 a0001c0004t0002g0180 a0001c0006t0001g0090	13	188	0.0692	29	c.542 others(48): Show c.542-51511_542-51510insATTTATATTTTATTTATATATAAATT ATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9503105	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	188	0.0053	29	c.448 others(46): Show c.448+1932_448+1933insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9535424	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03942.hp1 NA20905.hp2 HG02738.hp2 HG03942.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0023 a0001c0003t0002g0018 a0001c0003t0002g0030 a0001c0003t0001g0023 a0001c0003t0002g0018 a0001c0003t0002g0030	3	188	0.0160	29	c.323 others(46): Show c.323+9747_323+9748insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108747110	G G	GCCGCGCT others(22): Show GCCGCGCTCCCCACTCTTCTCCGCTCCCGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(128): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18953.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA18997.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19068.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19083.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0002c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0293 a0001c0001t0001g0294 others(116): Show a0001c0001t0001g0013 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0005g0200 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0309 a0001c0002t0004g0212 a0002c0003t0001g0225 a0002c0003t0001g0234 a0002c0003t0001g0242 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0262 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0312	131	334	0.3922	29	c.49+ others(42): Show c.49+334_49+362dupCCACTCTTCTCCGCTCCCGTCCGCGCTCC	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108772380	A A	ATATCTGT others(22): Show ATATCTGTATATATAAATACATATGATATC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01981.hp2 HG01928.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0041 a0001c0007t0002g0108 a0001c0001t0002g0041 a0001c0007t0002g0108	2	334	0.0060	29	c.439 others(44): Show c.439-245_439-217dupTATAAATACATATGATATCTATCTGTATA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03225.hp1 HG01243.hp2 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0148 a0005c0008t0001g0119 a0001c0001t0001g0148 a0005c0008t0001g0119	2	280	0.0071	29	c.106 others(50): Show c.1063-21651_1063-21623dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCO_chr1_172528150_172616833	172538166	T T	TGGAGGGT others(22): Show TGGAGGGTAAAGTGGAATGTAGGGGCCGTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	340	0.0029	29	c.62+ others(44): Show c.62+4693_62+4694insCCGTAGGAGGGTAAAGTGGAATGTAGGGG	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
SULT2B1_chr19_48547172_48604423	48602704	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	376	0.0027	29	c.32 others(40): Show c.3298_*3299insAAAAAATATATATATATATATATATATAT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding		3282		chr19	TogoVar
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG00738.hp1 others(28): Show HG00609.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01243.hp1 HG01884.hp1 HG02109.hp2 HG02135.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03139.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18944.hp2 NA18956.hp1 NA18966.hp1 NA18974.hp2 NA18994.hp1 NA18997.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0001g0155 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0292 a0002c0002t0001g0056 a0003c0003t0001g0280 a0003c0003t0001g0284 a0003c0003t0001g0293 a0004c0004t0001g0087 a0004c0004t0001g0093	31	382	0.0812	29	c.212 others(44): Show c.212-242_212-241insAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(22): Show ATATATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	422	0.0024	29	c.-14 others(40): Show c.-1456_-1455insTATATATTTTTTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01346.hp1 HG02135.hp2 others(6): Show HG00140.hp2 HG01346.hp1 HG02135.hp2 HG02683.hp1 HG03704.hp1 HG03831.hp2 NA18941.hp2 NA18953.hp1 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 others(5): Show a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0003t0001g0016 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0004t0001g0021	9	236	0.0381	29	c.-32 others(46): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUSD5_chr3_33145043_33223810	33183930	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02717.hp2 HG01106.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0119 a0003c0003t0004g0152 a0003c0003t0004g0119 a0003c0003t0004g0152	2	404	0.0050	29	c.410 others(46): Show c.410-8857_410-8856insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	3/4			chr3	TogoVar
SVEP1_chr9_110360248_110584741	110434666	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03041.hp1 NA18980.hp1 HG02735.hp1 HG03041.hp1 NA18980.hp1	a0010 a0021 a0042 a0010 a0021 a0042	a0010c0013 a0021c0100 a0042c0058 a0010c0013 a0021c0100 a0042c0058	a0010c0013t0003 a0021c0100t0001 a0042c0058t0013 a0010c0013t0003 a0021c0100t0001 a0042c0058t0013	a0010c0013t0003g0344 a0021c0100t0001g0048 a0042c0058t0013g0130 a0010c0013t0003g0344 a0021c0100t0001g0048 a0042c0058t0013g0130	3	362	0.0083	29	c.488 others(46): Show c.4889-161_4889-160insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110572789	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03834.hp2 NA20805.hp1 HG02083.hp2 HG03834.hp2 NA20805.hp1	a0004 a0005 a0025 a0004 a0005 a0025	a0004c0094 a0005c0005 a0025c0020 a0004c0094 a0005c0005 a0025c0020	a0004c0094t0001 a0005c0005t0002 a0025c0020t0001 a0004c0094t0001 a0005c0005t0002 a0025c0020t0001	a0004c0094t0001g0174 a0005c0005t0002g0038 a0025c0020t0001g0173 a0004c0094t0001g0174 a0005c0005t0002g0038 a0025c0020t0001g0173	3	362	0.0083	29	c.531 others(46): Show c.531+6223_531+6224insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	1/47			chr9	TogoVar
SYBU_chr8_109568978_109649822	109645626	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	324	0.0031	29	c.-96 others(38): Show c.-968_-967insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SYBU	ENSG00000147642.17	transcript	ENST00000276646.14	protein_coding		805		chr8	TogoVar
SYCP2L_chr6_10882052_10979309	10907892	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	354	0.0028	29	c.819 others(44): Show c.819+226_819+227insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP2L_chr6_10882052_10979309	10978304	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0015 a0002c0007t0001g0015	1	354	0.0028	29	c.43 others(40): Show c.4390_*4391insATATATATATATATATATATATATATATA	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding		3996		chr6	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	426	0.0024	29	c.236 others(44): Show c.236-828_236-827insAAAAAAAAATATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03834.hp1 NA19075.hp2 HG01169.hp1 HG03834.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0194 a0001c0001t0001g0035 a0001c0001t0001g0194	3	426	0.0070	29	c.236 others(44): Show c.236-828_236-827insAAAAAAAAAAATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02698.hp2 HG02895.hp1 others(1): Show HG00558.hp2 HG02698.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0130 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132	4	426	0.0094	29	c.236 others(44): Show c.236-828_236-827insAAAAAAAAAAAAATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	426	0.0024	29	c.236 others(44): Show c.236-828_236-827insAAAAAAAAAAAAAAATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYN3_chr22_32502820_33063381	32572243	C C	CTCCTTCC others(22): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0143 a0001c0001t0031g0143	1	184	0.0054	29	c.774 others(48): Show c.774+24430_774+24431insAAGGAAGGAAGGAAGGAAGGAAGGAA GGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYNC_chr1_32674906_32707770	32687855	A A	ATTATTAT others(22): Show ATTATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01261.hp2 others(4): Show HG01070.hp1 HG01071.hp1 HG01261.hp2 HG02970.hp2 HG03942.hp1 NA18979.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0062 a0001c0001t0001g0110 a0001c0001t0001g0111 others(4): Show a0001c0001t0001g0062 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0002g0137 a0001c0001t0004g0184 a0001c0001t0004g0185	7	318	0.0220	29	c.123 others(48): Show c.1234-3474_1234-3473insAATAATAATAATAATAATAATAATAA TAA	SYNC	ENSG00000162520.15	transcript	ENST00000409190.8	protein_coding	2/4			chr1	TogoVar
SYNE1_chr6_152116687_152642362	152179673	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03831.hp1 HG03942.hp2 HG02280.hp2 HG03831.hp1 HG03942.hp2	a0005 a0008 a0014 a0005 a0008 a0014	a0005c0059 a0008c0129 a0014c0060 a0005c0059 a0008c0129 a0014c0060	a0005c0059t0012 a0008c0129t0003 a0014c0060t0007 a0005c0059t0012 a0008c0129t0003 a0014c0060t0007	a0005c0059t0012g0140 a0008c0129t0003g0070 a0014c0060t0007g0133 a0005c0059t0012g0140 a0008c0129t0003g0070 a0014c0060t0007g0133	3	174	0.0172	29	c.234 others(48): Show c.23460+434_23460+462dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	129/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152188984	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0019 a0019	a0019c0003 a0019c0003	a0019c0003t0004 a0019c0003t0004	a0019c0003t0004g0032 a0019c0003t0004g0032	1	174	0.0058	29	c.233 others(48): Show c.23301+267_23301+268insATATATATATATATATATATATATAT ATT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	128/145			chr6	TogoVar

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