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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
STK39_chr2_167949022_168252595	168227834	TTTTTAGT others(20): Show TTTTTAGTAGAGATGGGGTTTCACCGTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01258.hp1 HG02109.hp2 others(16): Show HG00544.hp2 HG01258.hp1 HG02109.hp2 HG02630.hp2 HG02738.hp1 HG03490.hp2 HG03654.hp2 NA18940.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18970.hp2 NA18974.hp1 NA19011.hp1 NA19064.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0008 a0001c0001 a0002c0002 a0005c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0020 a0001c0001t0038 a0002c0002t0001 a0002c0002t0002 a0005c0008t0003	a0001c0001t0001g0199 a0001c0001t0001g0216 a0001c0001t0001g0239 others(16): Show a0001c0001t0001g0199 a0001c0001t0001g0216 a0001c0001t0001g0239 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0006g0009 a0001c0001t0010g0115 a0001c0001t0020g0003 a0001c0001t0038g0270 a0002c0002t0001g0154 a0002c0002t0002g0087 a0002c0002t0002g0101 a0005c0008t0003g0026	19	270	0.0704	-27	c.208 others(46): Show c.208+19367_208+19393delCACGGTGAAACCCCATCTCTACTAAA A		STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/17						chr2	TogoVar
STK39_chr2_167949022_168252595	168247350	GCCGGGGC others(20): Show GCCGGGGCCGCCGCCGCCGCCGCTGTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0010 a0003c0007t0010	a0003c0007t0010g0114 a0003c0007t0010g0114	1	270	0.0037	-27	c.59_ others(32): Show c.59_85delTGACAGCGGCGGCGGCGGCGGCCCCGG	p.Val others(11): Show p.Val20_Pro28del	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/18	245/3272	59/1638	20/545			chr2	TogoVar
STMN3_chr20_63634712_63658424	63647635	CATATATA others(20): Show CATATATATATATACATGTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0070 a0001c0001t0005g0070	1	388	0.0026	-27	c.20- others(42): Show c.20-3353_20-3327delTATATATATACATGTATATATATATAT		STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	1/4						chr20	TogoVar
STON1_chr2_48525154_48603513	48564465	TTCTTCTT others(20): Show TTCTTCTTCTTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	376	0.0027	-27	c.-47 others(46): Show c.-47-16120_-47-16094delCTTCTTCTTCTTCTTTCTTCTTCTTC T		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564468	TTCTTCTT others(20): Show TTCTTCTTCTTCTTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	376	0.0027	-27	c.-47 others(46): Show c.-47-16117_-47-16091delCTTCTTCTTCTTTCTTCTTCTTCTTC T		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564471	TTCTTCTT others(20): Show TTCTTCTTCTTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp2 HG02896.hp1 others(1): Show HG01099.hp2 HG01123.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0002 a0001c0001t0001 a0001c0001t0006 a0001c0003t0002	a0001c0001t0001g0262 a0001c0001t0006g0344 a0001c0003t0002g0037 others(1): Show a0001c0001t0001g0262 a0001c0001t0006g0344 a0001c0003t0002g0037 a0001c0003t0002g0042	4	376	0.0106	-27	c.-47 others(46): Show c.-47-16114_-47-16088delCTTCTTCTTTCTTCTTCTTCTTCTTC T		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564474	TTCTTCTT others(20): Show TTCTTCTTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA19030.hp1 HG03654.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0347 a0001c0003t0002g0185 a0001c0001t0001g0347 a0001c0003t0002g0185	2	376	0.0053	-27	c.-47 others(46): Show c.-47-16111_-47-16085delCTTCTTTCTTCTTCTTCTTCTTCTTC T		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564477	TTCTTTCT others(20): Show TTCTTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02572.hp1 HG01261.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0286 a0001c0001t0004g0191 a0001c0001t0001g0286 a0001c0001t0004g0191	2	376	0.0053	-27	c.-47 others(46): Show c.-47-16108_-47-16082delCTTTCTTCTTCTTCTTCTTCTTCTTC T		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STRA6_chr15_74174466_74207787	74177557	TGTGTGTG others(20): Show TGTGTGTGTACAGCAACCTGAGCGGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02647.hp1 others(5): Show HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0040 a0001c0001t0004g0113 a0001c0001t0004g0115 others(4): Show a0001c0001t0004g0040 a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0142 a0001c0001t0004g0152 a0001c0001t0004g0163 a0002c0002t0004g0123	8	360	0.0222	-27	c.24 others(38): Show c.2496_*2522delGCACCGCTCAGGTTGCTGTACACACAC		STRA6	ENSG00000137868.19	transcript	ENST00000395105.9	protein_coding					1908		chr15	TogoVar
STRN3_chr14_30888804_31031379	31009344	GCTGTCCC others(20): Show GCTGTCCCGTGCGTGTTTAGTAGCATCC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18943.hp1 NA18957.hp2 others(10): Show HG00621.hp1 NA18943.hp1 NA18957.hp2 NA18966.hp1 NA18968.hp2 NA18973.hp1 NA18983.hp2 NA18993.hp1 NA19009.hp1 NA19060.hp1 NA19068.hp2 NA19080.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 others(10): Show a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0264 a0001c0001t0005g0244 a0001c0001t0008g0242	13	364	0.0357	-27	c.282 others(46): Show c.282+16533_282+16559delGGATGCTACTAAACACGCACGGGACA G		STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17						chr14	TogoVar
STT3B_chr3_31527925_31642616	31568029	AATCATCA others(20): Show AATCATCATTCTGCTCTCTATCTCCATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	342	0.0029	-27	c.315 others(44): Show c.315-8365_315-8339delTCATCATTCTGCTCTCTATCTCCATGA		STT3B	ENSG00000163527.10	transcript	ENST00000295770.4	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
STUB1_chr16_675410_687801	679918	GGATGGGG others(20): Show GGATGGGGCTGGGGGCGGGGCCTCTGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-27	c.-60 others(36): Show c.-607_-581delGATGGGGCTGGGGGCGGGGCCTCTGCT		STUB1	ENSG00000103266.11	transcript	ENST00000219548.9	protein_coding					491		chr16	TogoVar
STX1B_chr16_30984256_31015638	31013302	TTCTTCTT others(20): Show TTCTTCTTCTTCTTCTTCTTCCTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	282	0.0036	-27	c.-29 others(38): Show c.-2933_-2907delGGAAGAGGAAGAAGAAGAAGAAGAAGA		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding					2665		chr16	TogoVar
STX1B_chr16_30984256_31015638	31013340	CCTCTTCC others(20): Show CCTCTTCCTCTTCTTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0101 a0001c0002t0037g0101	1	282	0.0036	-27	c.-29 others(38): Show c.-2971_-2945delAAGAAGAAGAAGAAAGAAGAGGAAGAG		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding					2703		chr16	TogoVar
STX1B_chr16_30984256_31015638	31013401	TTCTTCCT others(20): Show TTCTTCCTCTTCCTCTTCTTCCTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp2 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0033 a0001c0001t0026 a0001c0001t0033	a0001c0001t0026g0046 a0001c0001t0033g0056 a0001c0001t0026g0046 a0001c0001t0033g0056	2	282	0.0071	-27	c.-30 others(38): Show c.-3032_-3006delGGAAGAGGAAGAAGAGGAAGAGGAAGA		STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding					2764		chr16	TogoVar
STX6_chr1_180967725_181027870	181023095	CCTCTCTC others(20): Show CCTCTCTCTCCTCTCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0242 a0001c0002t0002g0242	1	350	0.0029	-27	c.-44 others(36): Show c.-449_-423delAGAGAGAGAGAGAGAGAGGAGAGAGAG		STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding					226		chr1	TogoVar
STX8_chr17_9245471_9580820	9327214	GAAGGAGG others(20): Show GAAGGAGGAAGAAGGAGGAAGGAGGACA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	188	0.0053	-27	c.643 others(46): Show c.643+51311_643+51337delTGTCCTCCTTCCTCCTTCTTCCTCCT T		STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7						chr17	TogoVar
STXBP5_chr6_147199417_147395473	147201509	GGAAACTG others(20): Show GGAAACTGGCTTAAATTGGTGACTCTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG01192.hp2 others(12): Show HG00323.hp2 HG01109.hp2 HG01192.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03471.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0003c0005 others(1): Show a0001c0001 a0001c0003 a0003c0005 a0006c0013	a0001c0001t0013 a0001c0001t0026 a0001c0003t0009 others(2): Show a0001c0001t0013 a0001c0001t0026 a0001c0003t0009 a0003c0005t0015 a0006c0013t0013	a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(12): Show a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 a0001c0001t0026g0176 a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 a0001c0003t0009g0189 a0001c0003t0009g0190 a0001c0003t0009g0191 a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 a0003c0005t0015g0183 a0006c0013t0013g0185	15	350	0.0429	-27	c.-30 others(38): Show c.-3023_-2997delGAAACTGGCTTAAATTGGTGACTCTTT		STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding					2907		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147372406	CCTTTTTT others(20): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03225.hp2 NA19000.hp1 HG01099.hp2 HG03225.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0029 a0001c0001t0001 a0002c0002t0002 a0002c0002t0029	a0001c0001t0001g0258 a0002c0002t0002g0074 a0002c0002t0029g0045 a0001c0001t0001g0258 a0002c0002t0002g0074 a0002c0002t0029g0045	3	350	0.0086	-27	c.308 others(46): Show c.3082-1324_3082-1298delCTTTTTTTTTTTTTTTTTTTTTTTTT T		STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	25/27						chr6	TogoVar
SULF1_chr8_69487847_69665912	69617408	TATATATA others(20): Show TATATATATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	296	0.0034	-27	c.137 others(46): Show c.1378-3626_1378-3600delATATATATATATATATATATATATAT G		SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22						chr8	TogoVar
SULT1B1_chr4_69716167_69765620	69725061	AACTACCA others(20): Show AACTACCATCAGCGTGAACAGGCAACCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02145.hp2 others(5): Show HG01243.hp1 HG01891.hp2 HG02145.hp2 HG02717.hp1 HG02976.hp2 HG03195.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0139 a0001c0001t0018 a0001c0001t0139	a0001c0001t0018g0012 a0001c0001t0018g0132 a0001c0001t0018g0167 others(2): Show a0001c0001t0018g0012 a0001c0001t0018g0132 a0001c0001t0018g0167 a0001c0001t0018g0181 a0001c0001t0139g0279	8	408	0.0196	-27	c.20 others(38): Show c.2000_*2026delAGGTTGCCTGTTCACGCTGATGGTAGT		SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding	8/8				2000		chr4	TogoVar
SULT2B1_chr19_48547172_48604423	48602705	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	376	0.0027	-27	c.33 others(38): Show c.3300_*3326delTATATATATATATATATATATATATAT		SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding					3283		chr19	TogoVar
SULT4A1_chr22_43819509_43867513	43834303	CCCCCACC others(20): Show CCCCCACCGCGTCCCTGTGCTTCCCGCG	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	386	0.0026	-27	c.509 others(42): Show c.509-596_509-570delCGCGGGAAGCACAGGGACGCGGTGGGG		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
SULT4A1_chr22_43819509_43867513	43834331	CCCCCACC others(20): Show CCCCCACCGCGGCCCTGAGCTTCCCGCG	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	386	0.0026	-27	c.509 others(42): Show c.509-624_509-598delCGCGGGAAGCTCAGGGCCGCGGTGGGG		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
SULT4A1_chr22_43819509_43867513	43834343	CCCTGAGC others(20): Show CCCTGAGCTTCCCGCGCCCCCACCGCGG	C C	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	386	0.0026	-27	c.509 others(42): Show c.509-636_509-610delCCGCGGTGGGGGCGCGGGAAGCTCAGG		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
SULT4A1_chr22_43819509_43867513	43834471	CCCCCACC others(20): Show CCCCCACCGCGGCCCTGAGCTTCCCACG	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	386	0.0026	-27	c.509 others(42): Show c.509-764_509-738delCGTGGGAAGCTCAGGGCCGCGGTGGGG		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
SUN1_chr7_827476_879934	871683	CCACCCCG others(20): Show CCACCCCGTATTTTTATTTCACTGGTGA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	418	0.0024	-27	c.214 others(44): Show c.2149-786_2149-760delCACCCCGTATTTTTATTTCACTGGTGA		SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	17/18						chr7	TogoVar
SUPT20HL1_chrX_24355639_24372839	24364299	TGCTGCTG others(20): Show TGCTGCTGCTGCTCCTGCTCCTGCTCTA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp1 HG01496.hp2 HG01884.hp1 others(28): Show HG01109.hp1 HG01496.hp2 HG01884.hp1 HG02055.hp1 HG02071.hp1 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03831.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp1 NA18942.hp1 NA18950.hp2 NA19043.hp1 NA19064.hp2 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0014 a0003c0003 a0003c0014	a0003c0003t0005 a0003c0003t0011 a0003c0003t0028 others(1): Show a0003c0003t0005 a0003c0003t0011 a0003c0003t0028 a0003c0014t0003	a0003c0003t0005g0000 a0003c0003t0011g0000 a0003c0003t0028g0000 others(1): Show a0003c0003t0005g0000 a0003c0003t0011g0000 a0003c0003t0028g0000 a0003c0014t0003g0000	31	316	0.0981	-27	c.155 others(36): Show c.1552_1578delCCTGCTCCTGCTCTAGCTGCTGCTGCT	p.Pro others(13): Show p.Pro518_Ala526del	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding	1/1	3674/7201	1552/2664	518/887		INFO_REALIGN_3_PRIME	chrX	TogoVar
SUPT3H_chr6_44821726_45382934	45375528	AGCCTTAA others(20): Show AGCCTTAAGACCAAGAGCATCATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	262	0.0038	-27	c.-1+ others(42): Show c.-1+2213_-1+2239delAAAAAATGATGCTCTTGGTCTTAAGGC		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	1/10						chr6	TogoVar
SUPT5H_chr19_39440582_39481670	39451837	TCAGATTT others(20): Show TCAGATTTTTGGATTAGGGATGTTCAAC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	378	0.0027	-27	c.76- others(42): Show c.76-1517_76-1491delAGATTTTTGGATTAGGGATGTTCAACC		SUPT5H	ENSG00000196235.14	transcript	ENST00000432763.7	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr19	TogoVar
SURF6_chr9_133323776_133341188	133336153	ACGACTCA others(20): Show ACGACTCACACCTTCCCCGCTGCGCGTG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02886.hp1 others(3): Show HG02572.hp1 HG02647.hp2 HG02886.hp1 HG03195.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0048 a0001c0001t0009 a0001c0001t0048	a0001c0001t0009g0015 a0001c0001t0009g0093 a0001c0001t0048g0094 a0001c0001t0009g0015 a0001c0001t0009g0093 a0001c0001t0048g0094	6	410	0.0146	-27	c.-48 others(34): Show c.-48_-22delCACGCGCAGCGGGGAAGGTGTGAGTCG		SURF6	ENSG00000148296.7	transcript	ENST00000372022.6	protein_coding	1/5				22		chr9	TogoVar
SV2B_chr15_91095257_91307565	91194973	CAGAATGA others(20): Show CAGAATGAAGATGAAGGCATGGAGCAGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02055.hp2 others(13): Show HG01109.hp1 HG01884.hp1 HG02055.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0016	a0001c0001t0002 a0001c0002t0011 a0001c0002t0071 others(7): Show a0001c0001t0002 a0001c0002t0011 a0001c0002t0071 a0001c0003t0004 a0001c0004t0024 a0001c0004t0026 a0001c0006t0004 a0001c0006t0036 a0001c0007t0002 a0001c0016t0005	a0001c0001t0002g0015 a0001c0002t0011g0021 a0001c0002t0071g0063 others(13): Show a0001c0001t0002g0015 a0001c0002t0011g0021 a0001c0002t0071g0063 a0001c0003t0004g0012 a0001c0004t0024g0071 a0001c0004t0026g0011 a0001c0004t0026g0075 a0001c0006t0004g0017 a0001c0006t0036g0211 a0001c0007t0002g0016 a0001c0007t0002g0060 a0001c0007t0002g0073 a0001c0007t0002g0080 a0001c0007t0002g0147 a0001c0007t0002g0187 a0001c0016t0005g0140	16	214	0.0748	-27	c.-39 others(48): Show c.-391-30899_-391-30873delAGAATGAAGATGAAGGCATGGAGC AGG		SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12						chr15	TogoVar
SV2C_chr5_76078383_76338956	76172173	CCGGCCGC others(20): Show CCGGCCGCCCCTACTGGGAAGTGAGGAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00558.hp2 others(47): Show HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00741.hp1 HG01074.hp1 HG01256.hp2 HG01496.hp2 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02523.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18945.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18975.hp2 NA18990.hp1 NA18992.hp2 NA19005.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp2 NA19072.hp2 NA19081.hp1 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0003c0004 a0003c0005 a0007c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(40): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0022 a0001c0001t0032 a0001c0001t0033 a0001c0001t0043 a0001c0001t0056 a0001c0001t0075 a0001c0001t0123 a0001c0001t0126 a0001c0002t0014 a0001c0002t0015 a0001c0002t0020 a0001c0002t0028 a0001c0002t0029 a0001c0002t0060 a0001c0002t0064 a0001c0002t0096 a0001c0002t0097 a0001c0002t0098 a0001c0002t0108 a0001c0002t0110 a0001c0002t0111 a0001c0002t0112 a0001c0002t0142 a0001c0002t0148 a0002c0003t0033 a0002c0006t0034 a0002c0006t0061 a0002c0006t0062 a0002c0006t0063 a0002c0006t0094 a0003c0004t0016 a0003c0004t0140 a0003c0005t0030 a0003c0005t0034 a0003c0005t0113 a0003c0005t0115 a0003c0005t0155 a0007c0014t0005	a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0003g0165 others(47): Show a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0003g0165 a0001c0001t0005g0099 a0001c0001t0008g0127 a0001c0001t0011g0056 a0001c0001t0011g0065 a0001c0001t0022g0108 a0001c0001t0032g0004 a0001c0001t0032g0160 a0001c0001t0033g0003 a0001c0001t0043g0028 a0001c0001t0056g0069 a0001c0001t0075g0115 a0001c0001t0123g0002 a0001c0001t0126g0172 a0001c0002t0014g0134 a0001c0002t0015g0138 a0001c0002t0020g0042 a0001c0002t0020g0073 a0001c0002t0028g0128 a0001c0002t0028g0129 a0001c0002t0029g0146 a0001c0002t0060g0052 a0001c0002t0064g0038 a0001c0002t0096g0112 a0001c0002t0097g0114 a0001c0002t0098g0113 a0001c0002t0108g0120 a0001c0002t0110g0124 a0001c0002t0111g0133 a0001c0002t0112g0116 a0001c0002t0142g0001 a0001c0002t0148g0158 a0002c0003t0033g0169 a0002c0006t0034g0168 a0002c0006t0061g0049 a0002c0006t0062g0068 a0002c0006t0063g0053 a0002c0006t0094g0142 a0003c0004t0016g0164 a0003c0004t0016g0166 a0003c0004t0140g0163 a0003c0005t0030g0118 a0003c0005t0030g0137 a0003c0005t0034g0173 a0003c0005t0113g0140 a0003c0005t0115g0139 a0003c0005t0155g0149 a0007c0014t0005g0180	50	234	0.2137	-27	c.581 others(46): Show c.581-22744_581-22718delGGCCGCCCCTACTGGGAAGTGAGGAG C		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172354	CCGGCCGC others(20): Show CCGGCCGCCCCTACTGGGAAGTGAGGAG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18960.hp1 HG02056.hp1 NA18960.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0018 a0003c0004t0005 a0001c0001t0018 a0003c0004t0005	a0001c0001t0018g0067 a0003c0004t0005g0161 a0001c0001t0018g0067 a0003c0004t0005g0161	2	234	0.0086	-27	c.581 others(46): Show c.581-22563_581-22537delGGCCGCCCCTACTGGGAAGTGAGGAG C		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
SWI5_chr9_128271276_128293989	128291978	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(89): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp2 HG01358.hp2 HG01515.hp1 HG01975.hp1 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(59): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0119 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0002g0042 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0002t0001g0011 a0001c0003t0001g0236	92	386	0.2383	-27	c.32 others(38): Show c.3263_*3289delAAAAAAAAAAAAAAAAAAAAAAAAAAA		SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding					2990		chr9	TogoVar
SYCP2_chr20_59858571_59938637	59876369	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp1 NA18968.hp1 HG03130.hp1 HG03195.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0191 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0191	3	276	0.0109	-27	c.315 others(44): Show c.3151-927_3151-901delTTTTTTTTTTTTTTTTTTTTTTTTTTT		SYCP2	ENSG00000196074.13	transcript	ENST00000357552.8	protein_coding	33/44						chr20	TogoVar
SYN3_chr22_32502820_33063381	33008924	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp2 HG00741.hp1 others(19): Show HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01433.hp2 HG01496.hp2 HG01978.hp2 HG02055.hp1 HG02572.hp1 HG02818.hp1 HG02970.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03669.hp1 HG03831.hp1 NA18960.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 a0001c0001t0059 a0001c0001t0074 a0001c0001t0076 a0001c0003t0004 a0001c0003t0052 a0002c0002t0004 a0002c0002t0005 a0002c0002t0022 a0002c0002t0048	a0001c0001t0001g0056 a0001c0001t0002g0057 a0001c0001t0003g0128 others(19): Show a0001c0001t0001g0056 a0001c0001t0002g0057 a0001c0001t0003g0128 a0001c0001t0003g0137 a0001c0001t0003g0151 a0001c0001t0005g0158 a0001c0001t0009g0090 a0001c0001t0010g0183 a0001c0001t0013g0081 a0001c0001t0013g0121 a0001c0001t0015g0058 a0001c0001t0020g0156 a0001c0001t0026g0026 a0001c0001t0059g0078 a0001c0001t0074g0071 a0001c0001t0076g0069 a0001c0003t0004g0040 a0001c0003t0052g0104 a0002c0002t0004g0152 a0002c0002t0005g0089 a0002c0002t0022g0001 a0002c0002t0048g0084	22	184	0.1196	-27	c.-16 others(46): Show c.-162-2127_-162-2101delTTTTTTTTTTTTTTTTTTTTTTTTTT T		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	1/13						chr22	TogoVar
SYN3_chr22_32502820_33063381	33028664	GTGGTGGT others(20): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG03453.hp2 others(1): Show HG02647.hp1 HG03209.hp1 HG03453.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0040 a0002c0002t0004 a0001c0001t0003 a0001c0001t0040 a0002c0002t0004	a0001c0001t0003g0107 a0001c0001t0040g0153 a0002c0002t0004g0154 others(1): Show a0001c0001t0003g0107 a0001c0001t0040g0153 a0002c0002t0004g0154 a0002c0002t0004g0163	4	184	0.0217	-27	c.-16 others(48): Show c.-162-21867_-162-21841delTCACCACCACCACCACCACCACCA CCA		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	1/13						chr22	TogoVar
SYNE1_chr6_152116687_152642362	152253813	GTTTGGTT others(20): Show GTTTGGTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01346.hp1 others(6): Show HG00544.hp2 HG00558.hp2 HG01346.hp1 HG02132.hp1 HG02970.hp1 HG03831.hp2 NA18955.hp1 NA19087.hp1 NA19088.hp1	a0004 a0007 a0018 others(6): Show a0004 a0007 a0018 a0031 a0053 a0068 a0110 a0111 a0129	a0004c0090 a0007c0084 a0018c0089 others(6): Show a0004c0090 a0007c0084 a0018c0089 a0031c0109 a0053c0067 a0068c0040 a0110c0123 a0111c0122 a0129c0021	a0004c0090t0001 a0007c0084t0005 a0018c0089t0008 others(6): Show a0004c0090t0001 a0007c0084t0005 a0018c0089t0008 a0031c0109t0005 a0053c0067t0003 a0068c0040t0011 a0110c0123t0003 a0111c0122t0007 a0129c0021t0002	a0004c0090t0001g0117 a0007c0084t0005g0109 a0018c0089t0008g0127 others(6): Show a0004c0090t0001g0117 a0007c0084t0005g0109 a0018c0089t0008g0127 a0031c0109t0005g0041 a0053c0067t0003g0020 a0068c0040t0011g0031 a0110c0123t0003g0105 a0111c0122t0007g0137 a0129c0021t0002g0076	9	174	0.0517	-27	c.194 others(48): Show c.19470+1040_19470+1066delAAAAAAAAAAAAAAAAAAAAAACC AAA		SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	104/145						chr6	TogoVar
SYNGR2_chr17_78163581_78177720	78176894	AGATGTCC others(20): Show AGATGTCCCCTGGGTGGGAATGGAGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	450	0.0022	-27	c.49 others(38): Show c.4959_*4985delGATGTCCCCTGGGTGGGAATGGAGAGG		SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding					4175		chr17	TogoVar
SYNM_chr15_99100080_99140593	99107942	TTTTGTTT others(20): Show TTTTGTTTTGTTTTTTTTTTGGTTTTGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02486.hp2 others(4): Show HG02145.hp1 HG02258.hp2 HG02486.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp2 NA19240.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0007 a0002c0005t0001 a0002c0005t0007	a0002c0005t0001g0179 a0002c0005t0007g0009 a0002c0005t0001g0179 a0002c0005t0007g0009	7	420	0.0167	-27	c.810 others(44): Show c.810+1937_810+1963delGTTTTGTTTTTTTTTTGGTTTTGGTTT		SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
SYNPR_chr3_63273308_63621924	63336519	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02040.hp1 NA18954.hp1 others(2): Show HG00597.hp2 HG02040.hp1 NA18954.hp1 NA18955.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0002g0050 a0001c0001t0002g0073 a0001c0001t0003g0045 others(2): Show a0001c0001t0002g0050 a0001c0001t0002g0073 a0001c0001t0003g0045 a0001c0001t0003g0064 a0001c0001t0016g0049	5	246	0.0203	-27	c.84+ others(44): Show c.84+57794_84+57820delAAAAAAAAAAAAAAAAAAAAAAAAAAA		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT1_chr12_78859774_79457008	78931199	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	62	0.0161	-27	c.-21 others(48): Show c.-216-46599_-216-46573delAAAGAAAGAAAGAAAGAAAGAAAG AAA		SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10						chr12	TogoVar
SYT1_chr12_78859774_79457008	78973939	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	62	0.0161	-27	c.-21 others(46): Show c.-216-3859_-216-3833delTATATATATATATATATATATATATA T		SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10						chr12	TogoVar
SYT2_chr1_202585596_202715454	202669824	GAAAGACA others(20): Show GAAAGACACGAAACATGTCTCTCATTCA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0058 a0001c0002t0056g0058	1	276	0.0036	-27	c.-18 others(46): Show c.-18+40407_-18+40433delTGAATGAGAGACATGTTTCGTGTCTT T		SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8						chr1	TogoVar
SYT6_chr1_114084292_114158869	114134627	AAGGTGGA others(20): Show AAGGTGGATTGGTTTGCACCAGGCAGAG	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0367 a0001c0001t0008g0367	1	426	0.0024	-27	c.107 others(46): Show c.1071+2841_1071+2867delCTCTGCCTGGTGCAAACCAATCCACC T		SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	3/7						chr1	TogoVar
SYT9_chr11_7246904_7474043	7432561	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	272	0.0037	-27	c.146 others(48): Show c.1467+11928_1467+11954delAAAAAAAAAAAAAAAAAAAAATAT ATA		SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
SYT9_chr11_7246904_7474043	7432575	AAAAAAAA others(20): Show AAAAAAAAATATATATACATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	272	0.0037	-27	c.146 others(48): Show c.1467+11942_1467+11968delAAAAAAATATATATACATATATAT ATA		SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
SYT9_chr11_7246904_7474043	7432579	AAAAATAT others(20): Show AAAAATATATATACATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03927.hp2 HG03225.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0167 a0001c0001t0004g0234 a0001c0001t0003g0167 a0001c0001t0004g0234	2	272	0.0074	-27	c.146 others(48): Show c.1467+11946_1467+11972delAAATATATATACATATATATATAT ATA		SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
SYT9_chr11_7246904_7474043	7432583	ATATATAT others(20): Show ATATATATACATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	272	0.0037	-27	c.146 others(48): Show c.1467+11949_1467+11975delTATATATACATATATATATATATA TAT		SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6						chr11	TogoVar

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