JoGo: Joint Open Genome and Omics Platform

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
SUSD1_chr9_112035783_112180297	112109599	TAAGATGC others(23): Show TAAGATGCAAAACCGGATCTGCCTGACTCCA	T T	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0306 a0001c0003t0008g0306	1	338	0.0030	-30	c.117 others(49): Show c.1171+2025_1171+2054delTGGAGTCAGGCAGATCCGGTTTTGCA TCTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	8/16			chr9	TogoVar
SUSD4_chr1_223215831_223369176	223304793	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01169.hp2 others(14): Show HG00408.hp2 HG01123.hp1 HG01169.hp2 HG02074.hp1 HG02523.hp1 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18965.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0068 others(14): Show a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0207	17	276	0.0616	-30	c.149 others(49): Show c.149-12172_149-12143delATATATATATATATATATATATATAT ATAT	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	2/8			chr1	TogoVar
SUSD5_chr3_33145043_33223810	33149492	TGGGGCAA others(23): Show TGGGGCAAGGAAGAGGGAAGTAGGGGGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	404	0.0025	-30	c.32 others(41): Show c.3220_*3249delGCCCCCCCCTACTTCCCTCTTCCTTGCCCC	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding		550		chr3	TogoVar
SV2B_chr15_91095257_91307565	91158633	CCTCTTCT others(23): Show CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0150 a0001c0001t0021g0151 a0001c0001t0021g0150 a0001c0001t0021g0151	2	214	0.0094	-30	c.-39 others(51): Show c.-392+58310_-392+58339delTCTCTTCTCTTCTCTTCTCTTCTC TTCTCT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2C_chr5_76078383_76338956	76223440	CATACATA others(23): Show CATACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02015.hp2 HG02056.hp1 others(9): Show HG00140.hp2 HG02015.hp2 HG02056.hp1 HG02559.hp1 HG02735.hp2 HG02809.hp1 HG02922.hp1 HG03139.hp2 HG04199.hp1 NA18955.hp1 NA19011.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006	a0001c0001t0002 a0001c0001t0018 a0001c0001t0043 others(9): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0043 a0001c0001t0131 a0001c0001t0135 a0001c0001t0138 a0001c0002t0025 a0001c0002t0107 a0001c0002t0154 a0002c0003t0001 a0002c0003t0059 a0002c0006t0094	a0001c0001t0002g0224 a0001c0001t0018g0067 a0001c0001t0043g0028 others(9): Show a0001c0001t0002g0224 a0001c0001t0018g0067 a0001c0001t0043g0028 a0001c0001t0131g0181 a0001c0001t0135g0198 a0001c0001t0138g0150 a0001c0002t0025g0232 a0001c0002t0107g0207 a0001c0002t0154g0197 a0002c0003t0001g0026 a0002c0003t0059g0043 a0002c0006t0094g0142	12	234	0.0513	-30	c.913 others(49): Show c.913+13557_913+13586delCATATATATATATATATATATATATA TATA	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110383823	GAGGTCCT others(23): Show GAGGTCCTGCTTAGCGAGGAGGAAGGAGTCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01261.hp1 HG01978.hp2 others(47): Show HG01070.hp2 HG01261.hp1 HG01978.hp2 HG02004.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp1 NA18612.hp1 NA18946.hp2 NA18951.hp2 NA18962.hp2 NA18980.hp1 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA19002.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19088.hp1 NA20805.hp2 NA21309.hp2	a0001 a0008 a0016 others(25): Show a0001 a0008 a0016 a0017 a0020 a0021 a0026 a0030 a0031 a0032 a0035 a0039 a0043 a0045 a0046 a0049 a0053 a0056 a0065 a0071 a0076 a0080 a0082 a0096 a0097 a0100 a0106 a0108	a0001c0162 a0008c0008 a0016c0014 others(29): Show a0001c0162 a0008c0008 a0016c0014 a0017c0017 a0017c0064 a0020c0024 a0021c0100 a0026c0113 a0026c0148 a0030c0055 a0031c0033 a0032c0034 a0035c0029 a0039c0067 a0043c0142 a0043c0166 a0045c0049 a0046c0101 a0049c0054 a0053c0115 a0053c0161 a0056c0042 a0065c0065 a0071c0084 a0076c0088 a0080c0103 a0082c0085 a0096c0112 a0097c0116 a0100c0118 a0106c0109 a0108c0076	a0001c0162t0006 a0008c0008t0001 a0008c0008t0002 others(30): Show a0001c0162t0006 a0008c0008t0001 a0008c0008t0002 a0016c0014t0004 a0017c0017t0001 a0017c0064t0001 a0020c0024t0001 a0021c0100t0001 a0026c0113t0004 a0026c0148t0004 a0030c0055t0001 a0031c0033t0005 a0032c0034t0005 a0035c0029t0001 a0039c0067t0001 a0043c0142t0002 a0043c0166t0006 a0045c0049t0002 a0046c0101t0001 a0049c0054t0001 a0053c0115t0009 a0053c0161t0011 a0056c0042t0001 a0065c0065t0012 a0071c0084t0005 a0076c0088t0004 a0080c0103t0005 a0082c0085t0001 a0096c0112t0001 a0097c0116t0005 a0100c0118t0004 a0106c0109t0001 a0108c0076t0001	a0001c0162t0006g0006 a0008c0008t0001g0067 a0008c0008t0001g0291 others(47): Show a0001c0162t0006g0006 a0008c0008t0001g0067 a0008c0008t0001g0291 a0008c0008t0001g0354 a0008c0008t0002g0194 a0008c0008t0002g0217 a0008c0008t0002g0224 a0016c0014t0004g0100 a0016c0014t0004g0103 a0016c0014t0004g0104 a0017c0017t0001g0108 a0017c0017t0001g0248 a0017c0017t0001g0301 a0017c0017t0001g0302 a0017c0064t0001g0264 a0020c0024t0001g0032 a0020c0024t0001g0247 a0020c0024t0001g0356 a0021c0100t0001g0048 a0026c0113t0004g0105 a0026c0148t0004g0355 a0030c0055t0001g0080 a0031c0033t0005g0043 a0031c0033t0005g0098 a0031c0033t0005g0099 a0032c0034t0005g0082 a0032c0034t0005g0120 a0035c0029t0001g0311 a0035c0029t0001g0312 a0035c0029t0001g0313 a0039c0067t0001g0141 a0043c0142t0002g0081 a0043c0166t0006g0007 a0045c0049t0002g0094 a0046c0101t0001g0191 a0049c0054t0001g0095 a0053c0115t0009g0068 a0053c0161t0011g0002 a0056c0042t0001g0345 a0056c0042t0001g0346 a0065c0065t0012g0314 a0071c0084t0005g0073 a0076c0088t0004g0069 a0080c0103t0005g0074 a0082c0085t0001g0258 a0096c0112t0001g0190 a0097c0116t0005g0065 a0100c0118t0004g0071 a0106c0109t0001g0146 a0108c0076t0001g0223	50	362	0.1381	-30	c.102 others(51): Show c.10237+2045_10237+2074delTGACTCCTTCCTCCTCGCTAAGCA GGACCT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	43/47			chr9	TogoVar
SVIP_chr11_22813927_22834801	22830012	CACCCACA others(23): Show CACCCACAGCTCCGCCTACCCCCGCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	430	0.0023	-30	c.-29 others(39): Show c.-294_-265delCGCGGGGCGGGGGTAGGCGGAGCTGTGGGT	SVIP	ENSG00000198168.9	transcript	ENST00000354193.5	protein_coding		212		chr11	TogoVar
SVOPL_chr7_138589285_138706362	138637439	TATAGATA others(23): Show TATAGATAGATAGATAGATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp1 HG01258.hp1 others(2): Show HG01106.hp1 HG01167.hp1 HG01258.hp1 HG02738.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 others(1): Show a0001c0002 a0001c0005 a0002c0003 a0002c0006	a0001c0002t0001 a0001c0005t0002 a0002c0003t0001 others(1): Show a0001c0002t0001 a0001c0005t0002 a0002c0003t0001 a0002c0006t0002	a0001c0002t0001g0073 a0001c0002t0001g0143 a0001c0005t0002g0103 others(2): Show a0001c0002t0001g0073 a0001c0002t0001g0143 a0001c0005t0002g0103 a0002c0003t0001g0320 a0002c0006t0002g0176	5	360	0.0139	-30	c.789 others(47): Show c.789+7248_789+7277delCTATATATATATATCTATCTATCTATCT AT	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	9/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138637475	GATATAGA others(23): Show GATATAGATATAGATAGATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG03195.hp1 others(2): Show HG02109.hp1 HG02572.hp2 HG03195.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0062 a0001c0001t0001g0345 a0001c0001t0002g0021 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0345 a0001c0001t0002g0021 a0001c0002t0001g0329 a0002c0003t0001g0327	5	360	0.0139	-30	c.789 others(47): Show c.789+7212_789+7241delATATATATATATATCTATCTATATCTAT AT	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	9/15			chr7	TogoVar
SWAP70_chr11_9659077_9757993	9675346	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02559.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0026 a0002c0004t0001 a0001c0003t0026 a0002c0004t0001	a0001c0003t0026g0015 a0002c0004t0001g0024 a0001c0003t0026g0015 a0002c0004t0001g0024	2	294	0.0068	-30	c.99+ others(47): Show c.99+11114_99+11143delAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWI5_chr9_128271276_128293989	128291978	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01106.hp2 others(1): Show HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0112 a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0112	4	386	0.0104	-30	c.32 others(41): Show c.3263_*3292delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding		2990		chr9	TogoVar
SYCP2L_chr6_10882052_10979309	10888066	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0248 a0002c0024t0002g0248	1	354	0.0028	-30	c.9+9 others(41): Show c.9+950_9+979delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP2L_chr6_10882052_10979309	10891609	CTCTCTGT others(23): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00741.hp2 others(5): Show HG00099.hp2 HG00280.hp2 HG00741.hp2 HG01074.hp1 HG01256.hp1 HG01258.hp1 HG01943.hp1 HG02572.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 others(5): Show a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0004c0005t0001g0163	8	354	0.0226	-30	c.78+ others(41): Show c.78+30_78+59delCTCTGTGTGTGTGTGTGTGTGTGTGTGTGT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYK_chr9_90796819_90903549	90884220	TATACACA others(23): Show TATACACATACACATACGTGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	376	0.0027	-30	c.158 others(49): Show c.1582-3497_1582-3468delTACACATACACATACGTGTATATATA CACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN2_chr3_11999388_12197032	12003803	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	264	0.0038	-30	c.-74 others(39): Show c.-748_-719delGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding		584		chr3	TogoVar
SYN3_chr22_32502820_33063381	33028661	GTGGTGGT others(23): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0042	1	184	0.0054	-30	c.-16 others(51): Show c.-162-21867_-162-21838delTCACCACCACCACCACCACCACCA CCACCA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	1/13			chr22	TogoVar
SYNDIG1_chr20_24464629_24671616	24575671	TGGATTAT others(23): Show TGGATTATTTTCTTCTAAAAATACCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	270	0.0037	-30	c.481 others(47): Show c.481-9184_481-9155delGGATTATTTTCTTCTAAAAATACCTCCC TC	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	2/3			chr20	TogoVar
SYNE1_chr6_152116687_152642362	152371845	CAGGAAAG others(23): Show CAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03831.hp1 NA18961.hp2 others(3): Show HG01346.hp1 HG03831.hp1 NA18961.hp2 NA18977.hp2 NA18979.hp1 NA19066.hp1	a0008 a0056 a0077 others(3): Show a0008 a0056 a0077 a0078 a0107 a0129	a0008c0129 a0056c0045 a0077c0080 others(3): Show a0008c0129 a0056c0045 a0077c0080 a0078c0079 a0107c0121 a0129c0021	a0008c0129t0003 a0056c0045t0007 a0077c0080t0006 others(3): Show a0008c0129t0003 a0056c0045t0007 a0077c0080t0006 a0078c0079t0007 a0107c0121t0001 a0129c0021t0002	a0008c0129t0003g0070 a0056c0045t0007g0161 a0077c0080t0006g0131 others(3): Show a0008c0129t0003g0070 a0056c0045t0007g0161 a0077c0080t0006g0131 a0078c0079t0007g0123 a0107c0121t0001g0110 a0129c0021t0002g0076	6	174	0.0345	-30	c.950 others(49): Show c.9507+1162_9507+1191delTTCCTTTCCTTTCCTTTCCTTTCCTT TCCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	59/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152371900	AAGGAAAG others(23): Show AAGGAAAGGAAAGGAAAGGAAAGGACAGGAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00738.hp1 others(12): Show HG00140.hp1 HG00621.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01346.hp2 HG01928.hp2 HG02071.hp2 HG02572.hp2 HG02809.hp1 HG03492.hp2 HG03710.hp1 NA18950.hp1 NA18995.hp2 NA19060.hp2	a0003 a0005 a0010 others(10): Show a0003 a0005 a0010 a0018 a0040 a0041 a0064 a0076 a0083 a0094 a0099 a0127 a0131	a0003c0148 a0003c0149 a0005c0062 others(12): Show a0003c0148 a0003c0149 a0005c0062 a0010c0016 a0010c0022 a0018c0091 a0040c0053 a0041c0065 a0064c0093 a0076c0097 a0083c0039 a0094c0143 a0099c0152 a0127c0015 a0131c0164	a0003c0148t0009 a0003c0149t0009 a0005c0062t0012 others(12): Show a0003c0148t0009 a0003c0149t0009 a0005c0062t0012 a0010c0016t0005 a0010c0022t0005 a0018c0091t0001 a0040c0053t0001 a0041c0065t0001 a0064c0093t0003 a0076c0097t0007 a0083c0039t0002 a0094c0143t0004 a0099c0152t0010 a0127c0015t0002 a0131c0164t0010	a0003c0148t0009g0121 a0003c0149t0009g0154 a0005c0062t0012g0128 others(12): Show a0003c0148t0009g0121 a0003c0149t0009g0154 a0005c0062t0012g0128 a0010c0016t0005g0035 a0010c0022t0005g0038 a0018c0091t0001g0112 a0040c0053t0001g0108 a0041c0065t0001g0087 a0064c0093t0003g0027 a0076c0097t0007g0142 a0083c0039t0002g0025 a0094c0143t0004g0037 a0099c0152t0010g0169 a0127c0015t0002g0014 a0131c0164t0010g0130	15	174	0.0862	-30	c.950 others(49): Show c.9507+1107_9507+1136delGTCCTGTCCTTTCCTTTCCTTTCCTT TCCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	59/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152530950	CCTGGGAC others(23): Show CCTGGGACATGAATCATCCCTTTGCCCAGGG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02723.hp1 others(1): Show HG02258.hp2 HG02559.hp2 HG02723.hp1 HG02976.hp1	a0034 a0037 a0044 others(1): Show a0034 a0037 a0044 a0091	a0034c0103 a0037c0102 a0044c0101 others(1): Show a0034c0103 a0037c0102 a0044c0101 a0091c0111	a0034c0103t0004 a0037c0102t0005 a0044c0101t0004 others(1): Show a0034c0103t0004 a0037c0102t0005 a0044c0101t0004 a0091c0111t0001	a0034c0103t0004g0092 a0037c0102t0005g0094 a0044c0101t0004g0085 others(1): Show a0034c0103t0004g0092 a0037c0102t0005g0094 a0044c0101t0004g0085 a0091c0111t0001g0095	4	174	0.0230	-30	c.130 others(47): Show c.130-4805_130-4776delCCCTGGGCAAAGGGATGATTCATGTCCC AG	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	4/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152604978	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18979.hp2 NA18957.hp2 NA18979.hp2	a0060 a0070 a0060 a0070	a0060c0075 a0070c0081 a0060c0075 a0070c0081	a0060c0075t0001 a0070c0081t0011 a0060c0075t0001 a0070c0081t0011	a0060c0075t0001g0061 a0070c0081t0011g0060 a0060c0075t0001g0061 a0070c0081t0011g0060	2	174	0.0115	-30	c.67+ others(47): Show c.67+23257_67+23286delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152604986	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0035 a0035	a0035c0068 a0035c0068	a0035c0068t0004 a0035c0068t0004	a0035c0068t0004g0010 a0035c0068t0004g0010	1	174	0.0058	-30	c.67+ others(47): Show c.67+23249_67+23278delCTCTCTCTCTTTCTTTCTTTCTTTCTTT CT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152605007	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp1 HG03453.hp2 HG02257.hp2 HG03098.hp1 HG03453.hp2	a0012 a0051 a0097 a0012 a0051 a0097	a0012c0113 a0051c0071 a0097c0150 a0012c0113 a0051c0071 a0097c0150	a0012c0113t0004 a0051c0071t0002 a0097c0150t0002 a0012c0113t0004 a0051c0071t0002 a0097c0150t0002	a0012c0113t0004g0018 a0051c0071t0002g0015 a0097c0150t0002g0017 a0012c0113t0004g0018 a0051c0071t0002g0015 a0097c0150t0002g0017	3	174	0.0172	-30	c.67+ others(47): Show c.67+23228_67+23257delCCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE2_chr14_63848004_64231433	63861518	CTGTAGCA others(23): Show CTGTAGCATATGCCTGTAATCCCAGCATTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02809.hp1 others(1): Show HG01496.hp2 HG02257.hp1 HG02809.hp1 NA18906.hp1	a0007 a0073 a0007 a0073	a0007c0011 a0073c0038 a0007c0011 a0073c0038	a0007c0011t0004 a0007c0011t0010 a0073c0038t0003 a0007c0011t0004 a0007c0011t0010 a0073c0038t0003	a0007c0011t0004g0029 a0007c0011t0004g0055 a0007c0011t0010g0054 others(1): Show a0007c0011t0004g0029 a0007c0011t0004g0055 a0007c0011t0010g0054 a0073c0038t0003g0028	4	150	0.0267	-30	c.-52 others(47): Show c.-52+8376_-52+8405delTGTAGCATATGCCTGTAATCCCAGCATT TT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	1/115			chr14	TogoVar
SYNE2_chr14_63848004_64231433	64014929	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp1 HG03041.hp2 others(1): Show HG02145.hp1 HG02970.hp1 HG03041.hp2 HG03516.hp1	a0010 a0044 a0010 a0044	a0010c0006 a0044c0075 a0010c0006 a0044c0075	a0010c0006t0006 a0044c0075t0001 a0010c0006t0006 a0044c0075t0001	a0010c0006t0006g0037 a0010c0006t0006g0039 a0010c0006t0006g0058 others(1): Show a0010c0006t0006g0037 a0010c0006t0006g0039 a0010c0006t0006g0058 a0044c0075t0001g0130	4	150	0.0267	-30	c.472 others(49): Show c.4729-1527_4729-1498delTATATATATATATATATATATATATA TATA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	32/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64015035	ATGTATAT others(23): Show ATGTATATATGTATATATATAAATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04228.hp2 NA18986.hp2 HG03704.hp2 HG04228.hp2 NA18986.hp2	a0019 a0046 a0019 a0046	a0019c0021 a0046c0074 a0019c0021 a0046c0074	a0019c0021t0002 a0046c0074t0003 a0019c0021t0002 a0046c0074t0003	a0019c0021t0002g0020 a0019c0021t0002g0021 a0046c0074t0003g0022 a0019c0021t0002g0020 a0019c0021t0002g0021 a0046c0074t0003g0022	3	150	0.0200	-30	c.472 others(49): Show c.4729-1417_4729-1388delAATATATATGTGTATATATGTATATA TATA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	32/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNJ2_chr6_157976863_158104176	158084918	ATTATACA others(23): Show ATTATACAGTCATGTCATACGGTCACATCAT	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	312	0.0032	-30	c.320 others(47): Show c.3208+746_3208+775delTATACAGTCATGTCATACGGTCACATCA TT	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNPO2_chr4_118883854_119066247	118900681	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 NA19030.hp2 HG02145.hp1 HG02717.hp2 NA19030.hp2	a0005 a0010 a0005 a0010	a0005c0009 a0010c0013 a0005c0009 a0010c0013	a0005c0009t0001 a0010c0013t0018 a0005c0009t0001 a0010c0013t0018	a0005c0009t0001g0042 a0010c0013t0018g0041 a0010c0013t0018g0101 a0005c0009t0001g0042 a0010c0013t0018g0041 a0010c0013t0018g0101	3	310	0.0097	-30	c.105 others(49): Show c.105+11542_105+11571delCTCTCTCTCTCTCTCTCTCTCTATAT ATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118900683	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0010 a0002c0019t0010	a0002c0019t0010g0043 a0002c0019t0010g0043	1	310	0.0032	-30	c.105 others(49): Show c.105+11544_105+11573delCTCTCTCTCTCTCTCTCTCTATATAT ATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63314038	TATATATA others(23): Show TATATATATATATCCATATATATATATATCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	246	0.0041	-30	c.84+ others(47): Show c.84+35309_84+35338delCCATATATATATATATCCATATATATAT AT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63336519	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	246	0.0041	-30	c.84+ others(47): Show c.84+57791_84+57820delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595715	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp2 HG02809.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0001 a0001c0001t0004g0227 a0001c0001t0003g0001 a0001c0001t0004g0227	2	246	0.0081	-30	c.409 others(49): Show c.409-13408_409-13379delTTATATATATATATATATATATATAT ATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595717	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19030.hp1 NA20129.hp2 HG03453.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0153 a0001c0001t0002g0101 a0001c0001t0003g0080 a0001c0001t0001g0153 a0001c0001t0002g0101 a0001c0001t0003g0080	3	246	0.0122	-30	c.409 others(49): Show c.409-13385_409-13356delTATATATATATATATATATATATATA TATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595951	TTATATAT others(23): Show TTATATATATAGTTTTATATATAGTTTTATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG06807.hp1 HG00544.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0058 a0001c0001t0007g0182 a0001c0001t0001g0058 a0001c0001t0007g0182	2	246	0.0081	-30	c.409 others(49): Show c.409-13165_409-13136delTAGTTTTATATATAGTTTTATATATA TATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNRG_chr17_37509807_37614418	37594154	TATTATTT others(23): Show TATTATTTTAATTATATTAATTACAATATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(156): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02129.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0011 a0003c0004 a0003c0010 a0003c0013 a0004c0008 a0007c0017 a0012c0020 a0013c0019 a0014c0021	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(39): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0028 a0001c0003t0007 a0001c0003t0030 a0001c0003t0041 a0001c0005t0005 a0001c0005t0008 a0001c0005t0009 a0001c0005t0029 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0014 a0002c0002t0016 a0002c0002t0024 a0002c0002t0033 a0002c0011t0007 a0002c0011t0015 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0007 a0003c0004t0009 a0003c0004t0010 a0003c0004t0015 a0003c0004t0018 a0003c0004t0025 a0003c0004t0026 a0003c0010t0002 a0003c0013t0009 a0004c0008t0020 a0007c0017t0002 a0012c0020t0027 a0013c0019t0002 a0014c0021t0002	a0001c0001t0004g0334 a0001c0001t0005g0115 a0001c0001t0008g0315 others(155): Show a0001c0001t0004g0334 a0001c0001t0005g0115 a0001c0001t0008g0315 a0001c0001t0011g0117 a0001c0001t0011g0118 a0001c0001t0028g0116 a0001c0003t0007g0169 a0001c0003t0030g0187 a0001c0003t0041g0176 a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0273 a0001c0005t0005g0274 a0001c0005t0005g0275 a0001c0005t0005g0277 a0001c0005t0005g0278 a0001c0005t0005g0279 a0001c0005t0005g0280 a0001c0005t0008g0266 a0001c0005t0009g0005 a0001c0005t0009g0265 a0001c0005t0009g0281 a0001c0005t0029g0276 a0002c0002t0001g0201 a0002c0002t0001g0234 a0002c0002t0001g0249 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0192 a0002c0002t0002g0195 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0202 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0211 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0248 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0261 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0335 a0002c0002t0004g0233 a0002c0002t0005g0203 a0002c0002t0006g0034 a0002c0002t0006g0197 a0002c0002t0006g0198 a0002c0002t0006g0210 a0002c0002t0006g0222 a0002c0002t0006g0241 a0002c0002t0006g0246 a0002c0002t0006g0247 a0002c0002t0008g0196 a0002c0002t0014g0212 a0002c0002t0014g0250 a0002c0002t0014g0251 a0002c0002t0014g0252 a0002c0002t0016g0193 a0002c0002t0016g0219 a0002c0002t0016g0230 a0002c0002t0024g0255 a0002c0002t0033g0006 a0002c0011t0007g0194 a0002c0011t0015g0167 a0003c0004t0001g0119 a0003c0004t0001g0337 a0003c0004t0001g0338 a0003c0004t0001g0339 a0003c0004t0002g0122 a0003c0004t0002g0124 a0003c0004t0002g0125 a0003c0004t0002g0126 a0003c0004t0002g0175 a0003c0004t0002g0293 a0003c0004t0002g0299 a0003c0004t0002g0314 a0003c0004t0002g0323 a0003c0004t0003g0123 a0003c0004t0003g0283 a0003c0004t0003g0292 a0003c0004t0004g0127 a0003c0004t0004g0267 a0003c0004t0004g0282 a0003c0004t0004g0285 a0003c0004t0004g0287 a0003c0004t0004g0289 a0003c0004t0004g0290 a0003c0004t0004g0291 a0003c0004t0004g0294 a0003c0004t0004g0295 a0003c0004t0004g0297 a0003c0004t0004g0298 a0003c0004t0004g0300 a0003c0004t0004g0301 a0003c0004t0004g0302 a0003c0004t0004g0306 a0003c0004t0004g0307 a0003c0004t0004g0310 a0003c0004t0004g0311 a0003c0004t0004g0312 a0003c0004t0004g0313 a0003c0004t0007g0121 a0003c0004t0009g0304 a0003c0004t0009g0309 a0003c0004t0010g0308 a0003c0004t0015g0288 a0003c0004t0018g0321 a0003c0004t0018g0322 a0003c0004t0025g0303 a0003c0004t0026g0286 a0003c0010t0002g0120 a0003c0010t0002g0284 a0003c0013t0009g0305 a0004c0008t0020g0257 a0004c0008t0020g0258 a0007c0017t0002g0296 a0012c0020t0027g0220 a0013c0019t0002g0209 a0014c0021t0002g0224	159	349	0.4556	-30	c.240 others(47): Show c.240+2039_240+2068delTAATATTGTAATTAATATAATTAAAATA AT	SYNRG	ENSG00000275066.5	transcript	ENST00000612223.5	protein_coding	3/21			chr17	TogoVar
SYT10_chr12_33369238_33444819	33378832	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTTTGTAGATGCATT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA20300.hp2 HG01256.hp1 NA20300.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0013 a0004c0008t0013	a0004c0008t0013g0114 a0004c0008t0013g0115 a0004c0008t0013g0114 a0004c0008t0013g0115	2	320	0.0063	-30	c.150 others(47): Show c.1500+970_1500+999delAATGCATCTACAAACACACACACACACA CA	SYT10	ENSG00000110975.8	transcript	ENST00000228567.7	protein_coding	6/6			chr12	TogoVar
SYT16_chr14_61807703_62117550	62092173	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0051 a0001c0002t0047g0051	1	174	0.0058	-30	c.162 others(49): Show c.1624+7813_1624+7842delACACACACACACACACACACACACAC ACAC	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT1_chr12_78859774_79457008	78973928	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	62	0.0161	-30	c.-21 others(49): Show c.-216-3869_-216-3840delAAAAAAAAAATATATATATATATATA TATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	78973930	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	62	0.0161	-30	c.-21 others(49): Show c.-216-3867_-216-3838delAAAAAAAATATATATATATATATATA TATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79293325	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02145.hp2 HG02257.hp1 others(5): Show HG01256.hp1 HG02145.hp2 HG02257.hp1 HG02559.hp2 HG02647.hp1 HG02897.hp1 HG02965.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0020	a0001c0001t0001g0031 a0001c0001t0002g0010 a0001c0001t0003g0025 others(5): Show a0001c0001t0001g0031 a0001c0001t0002g0010 a0001c0001t0003g0025 a0001c0001t0003g0035 a0001c0001t0008g0060 a0001c0001t0010g0014 a0001c0001t0017g0023 a0001c0001t0020g0012	8	62	0.1290	-30	c.474 others(47): Show c.474+1251_474+1280delAAAATAAAATAAAATAAAATAAAATAAA AT	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79293381	AAAATAAA others(23): Show AAAATAAAATAAAATAAAATAAAATAAAATT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02647.hp2 HG02922.hp2 others(2): Show HG01978.hp2 HG02647.hp2 HG02922.hp2 HG03704.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0002t0015 others(2): Show a0001c0001t0007 a0001c0002t0002 a0001c0002t0015 a0001c0002t0018 a0001c0002t0021	a0001c0001t0007g0038 a0001c0002t0002g0013 a0001c0002t0015g0041 others(2): Show a0001c0001t0007g0038 a0001c0002t0002g0013 a0001c0002t0015g0041 a0001c0002t0018g0044 a0001c0002t0021g0045	5	62	0.0807	-30	c.474 others(47): Show c.474+1255_474+1284delTAAAATAAAATAAAATAAAATAAAATTA AA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYTL2_chr11_85689229_85816141	85789338	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG02015.hp1 others(17): Show HG01261.hp1 HG01358.hp1 HG02015.hp1 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG02559.hp1 HG03942.hp1 NA18942.hp2 NA18947.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18962.hp1 NA18998.hp2 NA19005.hp2 NA19060.hp1 NA19080.hp2 NA19086.hp1	a0002 a0008 a0021 others(2): Show a0002 a0008 a0021 a0026 a0038	a0002c0002 a0002c0030 a0008c0008 others(3): Show a0002c0002 a0002c0030 a0008c0008 a0021c0022 a0026c0025 a0038c0045	a0002c0002t0002 a0002c0030t0002 a0008c0008t0002 others(3): Show a0002c0002t0002 a0002c0030t0002 a0008c0008t0002 a0021c0022t0002 a0026c0025t0002 a0038c0045t0002	a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0099 others(17): Show a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0030t0002g0077 a0008c0008t0002g0070 a0021c0022t0002g0139 a0026c0025t0002g0120 a0038c0045t0002g0101	20	366	0.0546	-30	c.-39 others(51): Show c.-390+21586_-390+21615delTATATATATATATATATATATATA TATACA	SYTL2	ENSG00000137501.18	transcript	ENST00000359152.10	protein_coding	1/19			chr11	TogoVar
SYTL2_chr11_85689229_85816141	85789348	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	366	0.0027	-30	c.-39 others(51): Show c.-390+21576_-390+21605delCATATATATATATATATATATATA TATATA	SYTL2	ENSG00000137501.18	transcript	ENST00000359152.10	protein_coding	1/19			chr11	TogoVar
SYTL5_chrX_38001553_38133816	38043662	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	250	0.0040	-30	c.119 others(47): Show c.119+9666_119+9695delTATATATATATATATATACATATATATA TA	SYTL5	ENSG00000147041.12	transcript	ENST00000297875.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
SZT2_chr1_43384899_43459247	43392083	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0191 a0005c0007t0001g0191	1	290	0.0035	-30	c.27+ others(45): Show c.27+2103_27+2132delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SZT2	ENSG00000198198.17	transcript	ENST00000634258.3	protein_coding	1/71		INFO_REALIGN_3_PRIME	chr1	TogoVar
TACC2_chr10_121984163_122259542	122028752	CTTCCCCT others(23): Show CTTCCCCTTCTGTTCCCTTCCCTTGCCTCCG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0002 a0018c0022t0002	a0018c0022t0002g0094 a0018c0022t0002g0094	1	306	0.0033	-30	c.33+ others(45): Show c.33+6739_33+6768delTTCCCCTTCTGTTCCCTTCCCTTGCCTCCG	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	2/22			chr10	TogoVar
TACC2_chr10_121984163_122259542	122176091	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0064 a0064	a0064c0095 a0064c0095	a0064c0095t0001 a0064c0095t0001	a0064c0095t0001g0296 a0064c0095t0001g0296	1	306	0.0033	-30	c.583 others(51): Show c.5835-18947_5835-18918delCTCTCTCTCTCTCTCTCTCTCTCT CTATAT	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
TACR2_chr10_69398903_69421918	69409874	TATATATA others(23): Show TATATATACATATATACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03130.hp2 HG03195.hp2 others(1): Show HG02559.hp2 HG03130.hp2 HG03195.hp2 HG03486.hp2	a0007 a0009 a0010 others(1): Show a0007 a0009 a0010 a0018	a0007c0007 a0009c0008 a0010c0009 others(1): Show a0007c0007 a0009c0008 a0010c0009 a0018c0022	a0007c0007t0027 a0009c0008t0008 a0010c0009t0013 others(1): Show a0007c0007t0027 a0009c0008t0008 a0010c0009t0013 a0018c0022t0001	a0007c0007t0027g0084 a0009c0008t0008g0078 a0010c0009t0013g0077 others(1): Show a0007c0007t0027g0084 a0009c0008t0008g0078 a0010c0009t0013g0077 a0018c0022t0001g0169	4	382	0.0105	-30	c.588 others(45): Show c.588-829_588-800delGTATATATATATATGTATATATGTATATAT	TACR2	ENSG00000075073.16	transcript	ENST00000373306.5	protein_coding	2/4			chr10	TogoVar
TACR3_chr4_103581031_103724985	103650694	TATATTTA others(23): Show TATATTTATATATATAAATATATATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02055.hp1 others(16): Show HG01109.hp2 HG01884.hp2 HG02055.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03471.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 others(8): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0045	a0001c0001t0005g0166 a0001c0001t0006g0167 a0001c0001t0010g0243 others(16): Show a0001c0001t0005g0166 a0001c0001t0006g0167 a0001c0001t0010g0243 a0001c0001t0010g0248 a0001c0001t0010g0263 a0001c0001t0013g0162 a0001c0001t0013g0163 a0001c0001t0013g0164 a0001c0001t0013g0168 a0001c0001t0015g0270 a0001c0001t0017g0160 a0001c0001t0017g0165 a0001c0001t0023g0259 a0001c0001t0023g0261 a0001c0001t0024g0260 a0001c0001t0026g0276 a0001c0001t0026g0277 a0001c0001t0028g0026 a0001c0001t0045g0161	19	280	0.0679	-30	c.888 others(47): Show c.888+5470_888+5499delTTATTTATATATATTTATATATATAAAT AT	TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4			chr4	TogoVar
TAF3_chr10_7813505_8021631	7815566	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG00733.hp2 others(55): Show HG00099.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01884.hp1 HG01943.hp2 HG02004.hp1 HG02056.hp1 HG02145.hp2 HG02273.hp2 HG02698.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18969.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA19000.hp2 NA19004.hp2 NA19012.hp2 NA19063.hp2 NA19068.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0008c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0003c0003t0004 a0006c0006t0002 a0008c0009t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(55): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0223 a0001c0001t0001g0288 a0001c0001t0003g0140 a0001c0001t0003g0145 a0001c0001t0003g0152 a0001c0001t0008g0141 a0002c0002t0001g0118 a0002c0002t0001g0132 a0002c0002t0001g0143 a0002c0002t0001g0150 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0190 a0002c0002t0003g0170 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0205 a0003c0003t0001g0209 a0003c0003t0001g0211 a0003c0003t0001g0228 a0003c0003t0004g0149 a0006c0006t0002g0165 a0008c0009t0001g0283	58	344	0.1686	-30	c.-31 others(41): Show c.-3143_-3114delTATATATATATATATATATATTTTTTTTTT	TAF3	ENSG00000165632.9	transcript	ENST00000344293.6	protein_coding		2938		chr10	TogoVar

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