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
SNAPC4_chr9_136370571_136405170	136402025	T T	TTTTTTGG others(24): Show TTTTTTGGTGGGGTTTGTTTTTTGTTGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0210 a0003c0003t0002g0210	1	380	0.0026	31	c.-19 others(42): Show c.-1902_-1901insCCCACCAACAAAAAACAAACCCCACCAAAAA	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		1856		chr9	TogoVar
SNRPA1_chr15_101276510_101300248	101289925	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	442	0.0023	31	c.309 others(48): Show c.309+2036_309+2037insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SNRPA1	ENSG00000131876.18	transcript	ENST00000254193.11	protein_coding	3/8			chr15	TogoVar
SNRPD3_chr22_24550999_24579971	24561064	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	2	400	0.0050	31	c.126 others(48): Show c.126+3289_126+3290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
SNRPG_chr2_70276362_70298740	70283096	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	424	0.0024	31	c.181 others(48): Show c.181-1413_181-1412insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SNRPG	ENSG00000143977.14	transcript	ENST00000272348.7	protein_coding	3/3			chr2	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(24): Show TTTTCTTTTCTTTTTTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0095 a0001c0001t0026g0095	1	106	0.0094	31	c.-10 others(52): Show c.-103+26379_-103+26380insTCTTTTTTTTCTTTTCTTTCTTTC TTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50660410	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0006	1	106	0.0094	31	c.103 others(50): Show c.1038+1749_1038+1750insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50660426	G G	GAAAGAAA others(24): Show GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0030 a0001c0001t0013 a0001c0001t0030	a0001c0001t0013g0009 a0001c0001t0030g0053 a0001c0001t0013g0009 a0001c0001t0030g0053	2	106	0.0189	31	c.103 others(50): Show c.1038+1765_1038+1766insAGAAAGAAAGAGAAAGAAAGAAAGAA AGAAA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	996673	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0149 a0004c0004t0001g0149	1	190	0.0053	31	c.72+ others(48): Show c.72+45606_72+45636dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1031528	A A	ATATATAT others(24): Show ATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18943.hp1 HG01169.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0028 a0002c0003t0001g0021 a0001c0002t0001g0028 a0002c0003t0001g0021	2	190	0.0105	31	c.73- others(48): Show c.73-51989_73-51988insATATATATATATATATATATATTTTTTT TTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1031528	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	190	0.0053	31	c.73- others(48): Show c.73-51989_73-51988insATATATATATATATATATATTTTTTTTT TTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1049079	T T	TTCCCCAA others(24): Show TTCCCCAAACAGCCTCCCACACTATCAGCATC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0048 a0018c0023t0001g0048	1	190	0.0053	31	c.73- others(48): Show c.73-34436_73-34406dupCCCAAACAGCCTCCCACACTATCAGCAT CTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1056881	T T	TGGGGAGG others(24): Show TGGGGAGGGAGGGAGGGAGAGCGCAGCGCCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0119 a0002c0033t0001g0119	1	190	0.0053	31	c.73- others(48): Show c.73-26636_73-26635insGGGAGGGAGGGAGGGAGAGCGCAGCGCC ACG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842489	A A	AGGGAGGG others(24): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0186 a0001c0001t0006g0186	1	306	0.0033	31	c.-46 others(40): Show c.-465_-464insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		305		chr8	TogoVar
SNX18_chr5_54512759_54551586	54513684	T T	TTATATAT others(24): Show TTATATATAATATAATTTATATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 NA18906.hp2 HG02257.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	2	390	0.0051	31	c.-42 others(42): Show c.-4269_-4268insTATATATAATATAATTTATATATAATATATA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4074		chr5	TogoVar
SNX18_chr5_54512759_54551586	54513684	T T	TTATATAT others(24): Show TTATATATAATATATATTATATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02451.hp1 HG02970.hp1 others(3): Show HG02083.hp2 HG02451.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0006g0023 others(1): Show a0001c0001t0002g0018 a0001c0001t0002g0049 a0001c0001t0006g0023 a0001c0001t0006g0050	6	390	0.0154	31	c.-42 others(42): Show c.-4269_-4268insTATATATAATATATATTATATATAATATATA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4074		chr5	TogoVar
SNX18_chr5_54512759_54551586	54513727	A A	AATATATA others(24): Show AATATATAAATTATATATAATATATATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	390	0.0026	31	c.-42 others(42): Show c.-4226_-4225insATATATAAATTATATATAATATATATTATAT	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4031		chr5	TogoVar
SNX27_chr1_151607050_151704080	151681235	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG04115.hp2 NA19240.hp1 HG01978.hp2 HG04115.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0033 a0001c0001t0009 a0001c0001t0014 a0001c0001t0033	a0001c0001t0009g0202 a0001c0001t0014g0212 a0001c0001t0033g0254 a0001c0001t0009g0202 a0001c0001t0014g0212 a0001c0001t0033g0254	3	366	0.0082	31	c.115 others(50): Show c.1150-2097_1150-2096insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12063366	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0158 a0001c0003t0001g0158	1	176	0.0057	31	c.124 others(50): Show c.1243+1746_1243+1747insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX29_chr16_11971734_12579287	12476383	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0090 a0001c0001t0009g0090	1	176	0.0057	31	c.203 others(50): Show c.2038-1336_2038-1335insTATATATATATATATATATATATATA CATAT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20			chr16	TogoVar
SNX29_chr16_11971734_12579287	12483114	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02965.hp2 HG01069.hp1 HG01071.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0029 a0001c0003t0004 a0001c0003t0029	a0001c0003t0004g0092 a0001c0003t0004g0094 a0001c0003t0029g0053 a0001c0003t0004g0092 a0001c0003t0004g0094 a0001c0003t0029g0053	3	176	0.0171	31	c.217 others(50): Show c.2178+5284_2178+5285insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX30_chr9_112745760_112879987	112817401	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	338	0.0030	31	c.349 others(46): Show c.349-274_349-273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	378	0.0027	31	c.33 others(42): Show c.3312_*3313insTATATATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX9_chr6_157818246_157950077	157826878	A A	AATATATA others(24): Show AATATATAAATATATATTATAGTTTATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01074.hp1 others(5): Show HG00099.hp2 HG00642.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp2 HG01515.hp2 HG03669.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0003t0003 a0004c0005t0003 a0001c0001t0001 a0001c0003t0003 a0004c0005t0003	a0001c0001t0001g0280 a0001c0003t0003g0279 a0001c0003t0003g0281 others(5): Show a0001c0001t0001g0280 a0001c0003t0003g0279 a0001c0003t0003g0281 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0286 a0004c0005t0003g0282 a0004c0005t0003g0283	8	302	0.0265	31	c.12+ others(46): Show c.12+3461_12+3462insTTATATATAAATATATATTATAGTTTATAT A	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827578	T T	TTATATTA others(24): Show TTATATTATAGTTTATATATAATATATAAATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	302	0.0033	31	c.12+ others(46): Show c.12+4152_12+4153insATATATAAATATATATTATAGTTTATATAT A	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp2 HG02015.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0036 a0002c0002t0002g0038	2	302	0.0066	31	c.949 others(48): Show c.949+5616_949+5617insAAAAAAAAAAAAAAATATATATATATAT ATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	302	0.0033	31	c.949 others(48): Show c.949+5616_949+5617insAAAAAAAAAAATATATATATATATATAT ATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179317395	T T	TGGTGGCG others(24): Show TGGTGGCGGGCGCCTGTAGTCCCAGCTACTTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0260 a0001c0006t0004g0260	1	382	0.0026	31	c.119 others(48): Show c.119-6039_119-6009dupTGGCGGGCGCCTGTAGTCCCAGCTACTT GGG	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT1_chr1_179288797_179363680	179351721	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0065 a0001c0004t0065	a0001c0004t0065g0143 a0001c0004t0065g0143	1	382	0.0026	31	c.159 others(48): Show c.1596+275_1596+276insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOGA1_chr20_36772447_36868538	36826326	T T	TCCCCCCT others(24): Show TCCCCCCTCCCTCCCCCTCCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02717.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02717.hp1 HG02809.hp1 HG02922.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0010 a0002c0004t0012 a0001c0001t0001 a0002c0004t0010 a0002c0004t0012	a0001c0001t0001g0250 a0002c0004t0010g0079 a0002c0004t0010g0112 others(3): Show a0001c0001t0001g0250 a0002c0004t0010g0079 a0002c0004t0010g0112 a0002c0004t0010g0124 a0002c0004t0012g0064 a0002c0004t0012g0094	6	282	0.0213	31	c.107 others(50): Show c.1071+2727_1071+2728insGAGGGGGAGGGGGGAGGGGGAGGGAG GGGGG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14			chr20	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02976.hp2 NA19009.hp2 HG01515.hp1 HG02976.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0323 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0323	3	420	0.0071	31	c.641 others(48): Show c.641+5485_641+5486insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SORBS2_chr4_185580523_185817194	185751172	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18941.hp2 HG06807.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0138 a0001c0001t0002g0084 a0001c0001t0001g0138 a0001c0001t0002g0084	2	312	0.0064	31	c.-96 others(50): Show c.-96-17019_-96-17018insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS3_chr8_22546927_22580788	22565789	G G	GGTCGGAA others(24): Show GGTCGGAATGCTCGCTTTCCGCGCTGGTCGCC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0002 a0012c0029t0002	a0012c0029t0002g0282 a0012c0029t0002g0282	1	428	0.0023	31	c.904 others(44): Show c.904-36_904-35insTCGGAATGCTCGCTTTCCGCGCTGGTCGCCG	SORBS3	ENSG00000120896.14	transcript	ENST00000240123.12	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr8	TogoVar
SORCS1_chr10_106568663_107169706	106891504	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	130	0.0077	31	c.627 others(50): Show c.627-61832_627-61831insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0013 a0001c0041t0013	a0001c0041t0013g0031 a0001c0041t0013g0031	1	168	0.0060	31	c.481 others(50): Show c.481-22809_481-22808insATATATATATATATATATTTTTTTTT TTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp1 NA20129.hp1 HG02258.hp1 HG03209.hp1 NA20129.hp1	a0003 a0007 a0003 a0007	a0003c0027 a0003c0069 a0007c0072 a0003c0027 a0003c0069 a0007c0072	a0003c0027t0005 a0003c0069t0008 a0007c0072t0002 a0003c0027t0005 a0003c0069t0008 a0007c0072t0002	a0003c0027t0005g0181 a0003c0069t0008g0164 a0007c0072t0002g0256 a0003c0027t0005g0181 a0003c0069t0008g0164 a0007c0072t0002g0256	3	272	0.0110	31	c.205 others(50): Show c.2051+2016_2051+2017insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS2_chr14_50112130_50236578	50122391	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG01884.hp1 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0117 a0001c0003t0001g0118	2	382	0.0052	31	c.338 others(50): Show c.3380-2008_3380-2007insAAAAAAAAAAAAAAAAGAAAAAAAAA AAAAA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	21/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	2	404	0.0050	31	c.-58 others(40): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX3_chrX_140497985_140510069	140501073	C C	CACTGAAA others(24): Show CACTGAAAGGGTGACCCTGGCACTTCTAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	339	0.0030	31	c.26 others(42): Show c.2646_*2647insTTCTTAGAAGTGCCAGGGTCACCCTTTCAGT	SOX3	ENSG00000134595.9	transcript	ENST00000370536.5	protein_coding		1911		chrX	TogoVar
SPAG11B_chr8_7445603_7468542	7448302	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	205	0.0049	31	c.24 others(42): Show c.2410_*2411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPAG11B	ENSG00000164871.18	transcript	ENST00000398462.7	protein_coding		2300		chr8	TogoVar
SPAG16_chr2_213279464_214415501	213587677	G G	GAATTTTC others(24): Show GAATTTTCCAATTTTTAAATTGGAAATTTAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0017 a0005c0005t0001g0017	1	86	0.0116	31	c.107 others(52): Show c.1070+97605_1070+97606insTTGGAAATTTAAAAATTTTCCAAT TTTTAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100168687	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02055.hp1 HG01071.hp1 HG02055.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0001 a0003c0004t0001 a0002c0001t0001 a0003c0004t0001	a0002c0001t0001g0010 a0003c0004t0001g0071 a0002c0001t0001g0010 a0003c0004t0001g0071	2	366	0.0055	31	c.300 others(48): Show c.300+2725_300+2726insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	330	0.0030	31	c.-18 others(42): Show c.-1805_-1804insATATATATATATATATATTTTTTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03654.hp1 HG03471.hp2 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0004 a0003c0006t0001g0155 a0001c0001t0001g0004 a0003c0006t0001g0155	2	330	0.0061	31	c.-18 others(42): Show c.-1805_-1804insATATATATATATATATATATATATTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18982.hp1 NA18955.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0081 a0001c0001t0001g0017 a0001c0001t0001g0081	2	330	0.0061	31	c.-18 others(42): Show c.-1805_-1804insATATATATATATATATATATATATATTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	330	0.0030	31	c.-18 others(42): Show c.-1805_-1804insATATATATATATATATATATATATATATATA	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037689	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	292	0.0034	31	c.741 others(48): Show c.741+3811_741+3812insTATATATATATATATATATATATATATA TAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18951.hp2 HG02300.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0230 a0001c0005t0001g0235 a0001c0001t0001g0230 a0001c0005t0001g0235	2	292	0.0069	31	c.741 others(48): Show c.741+3809_741+3810insTATATATATATATATATATATATATATA TAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAST_chr2_32058556_32162637	32089218	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	342	0.0029	31	c.503 others(46): Show c.503-304_503-303insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT C	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	2/16			chr2	TogoVar
SPAST_chr2_32058556_32162637	32109875	T T	TACATATA others(24): Show TACATATATAGTTACATATGTTATATGCATAC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	342	0.0029	31	c.683 others(48): Show c.683-4743_683-4742insTATATGCATACACATATATAGTTACATA TGT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32110499	A A	AGTATATA others(24): Show AGTATATATAGTATATATATACTATATAGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02071.hp1 NA18612.hp2 others(2): Show HG00741.hp1 HG02071.hp1 NA18612.hp2 NA18964.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0026 a0001c0001t0002 a0001c0001t0004 a0001c0001t0026	a0001c0001t0002g0218 a0001c0001t0002g0230 a0001c0001t0002g0237 others(2): Show a0001c0001t0002g0218 a0001c0001t0002g0230 a0001c0001t0002g0237 a0001c0001t0004g0195 a0001c0001t0026g0238	5	342	0.0146	31	c.683 others(48): Show c.683-4087_683-4057dupCTATATAGTGTGTATATATAGTATATAT ATA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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