Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SPOCK1_chr5_136970298_137504326	137292426	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02976.hp2 HG01099.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0013 a0001c0001t0007g0039 a0001c0001t0006g0013 a0001c0001t0007g0039	2	152	0.0132	-24	c.187 others(43): Show c.187-25395_187-25372delTTTTTTTTTTTTTTTTTTTTTTTT		SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10						chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166847647	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02895.hp1 others(7): Show HG02258.hp2 HG02451.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 NA18906.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0002 a0002c0004t0002 a0002c0004t0003 a0002c0004t0005	a0001c0001t0001g0144 a0001c0001t0002g0014 a0001c0001t0003g0042 others(7): Show a0001c0001t0001g0144 a0001c0001t0002g0014 a0001c0001t0003g0042 a0001c0006t0002g0006 a0002c0004t0002g0138 a0002c0004t0003g0043 a0002c0004t0003g0137 a0002c0004t0003g0140 a0002c0004t0005g0013 a0002c0004t0005g0040	10	144	0.0694	-24	c.589 others(43): Show c.589+41459_589+41482delTATATATATATATATATATATATA		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167121009	CTTATCAT others(17): Show CTTATCATTCAGTGGATTTTGATAG	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19063.hp2 NA19070.hp2 NA18947.hp1 NA19063.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117	3	144	0.0208	-24	c.190 others(43): Show c.190-58496_190-58473delCTATCAAAATCCACTGAATGATAA		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18946.hp2 HG03516.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0059 a0001c0001t0015g0041 a0001c0001t0001g0059 a0001c0001t0015g0041	2	224	0.0089	-24	c.677 others(43): Show c.677-21823_677-21800delTTTTTTTTTTTTTTTTTTTTTTTT		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160511	ATATATAT others(17): Show ATATATATATTTACATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp2 HG02717.hp1 others(4): Show HG02602.hp1 HG02683.hp2 HG02717.hp1 HG03017.hp1 HG03688.hp1 HG03688.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0002	a0001c0001t0002g0008 a0001c0001t0002g0152 a0001c0001t0004g0178 others(4): Show a0001c0001t0002g0008 a0001c0001t0002g0152 a0001c0001t0004g0178 a0001c0001t0004g0205 a0001c0002t0001g0120 a0001c0002t0001g0158 a0001c0003t0002g0099	7	224	0.0313	-24	c.825 others(43): Show c.825+24953_825+24976delTTACATATATATATTTATATATAT		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SPPL2B_chr19_2323684_2360095	2350571	CTGCAGCT others(17): Show CTGCAGCTGTGGATTTCACTAGCTG	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0081 a0003c0006t0001g0081	1	414	0.0024	-24	c.135 others(41): Show c.1355-861_1355-838delGCAGCTGTGGATTTCACTAGCTGT		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2356831	ATCCATCC others(17): Show ATCCATCCATCCGTCCGTCCGTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01884.hp2 others(26): Show HG01109.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 NA18906.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0002c0005t0003 others(4): Show a0001c0001t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0007 a0002c0005t0019 a0002c0005t0025	a0001c0001t0001g0119 a0002c0005t0001g0006 a0002c0005t0001g0149 others(18): Show a0001c0001t0001g0119 a0002c0005t0001g0006 a0002c0005t0001g0149 a0002c0005t0003g0051 a0002c0005t0003g0152 a0002c0005t0003g0162 a0002c0005t0003g0163 a0002c0005t0004g0006 a0002c0005t0004g0030 a0002c0005t0004g0031 a0002c0005t0004g0032 a0002c0005t0004g0150 a0002c0005t0004g0151 a0002c0005t0004g0164 a0002c0005t0004g0183 a0002c0005t0007g0033 a0002c0005t0007g0158 a0002c0005t0007g0159 a0002c0005t0007g0160 a0002c0005t0019g0184 a0002c0005t0025g0148	29	414	0.0701	-24	c.36 others(35): Show c.3623_*3646delTCCATCCATCCGTCCGTCCGTCTG		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding					1737		chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2356843	GTCCGTCC others(17): Show GTCCGTCCGTCTGTCCATCCATCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	414	0.0024	-24	c.36 others(35): Show c.3635_*3658delTCCGTCCGTCTGTCCATCCATCCA		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding					1749		chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2357794	TCCACCCA others(17): Show TCCACCCATCCATCCATCTGCCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0082 a0003c0006t0001g0082	1	414	0.0024	-24	c.45 others(35): Show c.4586_*4609delCCACCCATCCATCCATCTGCCCAC		SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding					2700		chr19	TogoVar
SPPL3_chr12_120757510_120909358	120802375	ATATGTAT others(17): Show ATATGTATATATATACACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG03195.hp2 others(1): Show HG02109.hp2 HG02965.hp1 HG03195.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0028 a0001c0002t0005 a0001c0002t0028	a0001c0002t0005g0079 a0001c0002t0005g0110 a0001c0002t0005g0111 others(1): Show a0001c0002t0005g0079 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0028g0076	4	320	0.0125	-24	c.101 others(41): Show c.101+8410_101+8433delCATATATGTGTATATATATACATA		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	2/10						chr12	TogoVar
SPRED1_chr15_38247836_38362249	38273520	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0347 a0001c0001t0004g0347	1	378	0.0027	-24	c.32+ others(41): Show c.32+20318_32+20341delATATATATATATATATATATATAT		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRN_chr10_133415666_133429625	133429065	TCAAAAAA others(17): Show TCAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0033 a0002c0003t0033	a0002c0003t0033g0055 a0002c0003t0033g0055	1	474	0.0021	-24	c.-46 others(35): Show c.-4633_-4610delTTTTTTTTTTTTTTTTTTTTTTTG		SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding					4441		chr10	TogoVar
SPRR1A_chr1_152979081_152990814	152985344	GGAGCCCT others(17): Show GGAGCCCTGCCACCCCAAGGTGCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02109.hp2 HG02486.hp2 others(3): Show HG01891.hp1 HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG03540.hp2	a0004 a0005 a0004 a0005	a0004c0006 a0005c0005 a0004c0006 a0005c0005	a0004c0006t0001 a0005c0005t0001 a0004c0006t0001 a0005c0005t0001	a0004c0006t0001g0008 a0005c0005t0001g0010 a0005c0005t0001g0015 a0004c0006t0001g0008 a0005c0005t0001g0010 a0005c0005t0001g0015	6	402	0.0149	-24	c.132 others(31): Show c.132_155delGGTGCCTGAGCCCTGCCACCCCAA	p.Val others(11): Show p.Val45_Lys52del	SPRR1A	ENSG00000169474.5	transcript	ENST00000368762.2	protein_coding	2/2	196/648	132/270	44/89		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPRR3_chr1_152996749_153008856	153003182	AGAGCCAG others(17): Show AGAGCCAGGCTGTACCAAGGTCCCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(254): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0008	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0003c0004 a0005c0006 a0007c0010 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0003t0001 a0001c0003t0005 a0001c0008t0009 a0003c0004t0002 a0005c0006t0001 a0007c0010t0003 a0008c0009t0003	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0009 others(18): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0004g0001 a0001c0001t0004g0013 a0001c0001t0006g0001 a0001c0001t0007g0001 a0001c0001t0010g0001 a0001c0003t0001g0003 a0001c0003t0005g0007 a0001c0003t0005g0008 a0001c0008t0009g0010 a0003c0004t0002g0001 a0005c0006t0001g0002 a0007c0010t0003g0001 a0008c0009t0003g0001	257	420	0.6119	-24	c.219 others(31): Show c.219_242delCTGTACCAAGGTCCCTGAGCCAGG	p.Cys others(11): Show p.Cys74_Gly81del	SPRR3	ENSG00000163209.15	transcript	ENST00000295367.5	protein_coding	2/2	283/900	219/510	73/169		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPRR3_chr1_152996749_153008856	153006300	TTCCTTGA others(17): Show TTCCTTGAGCAGTGGTTTGTAGTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03540.hp2 HG02630.hp1 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0008 a0001c0003t0005g0008	2	420	0.0048	-24	c.27 others(35): Show c.2771_*2794delTCCTTGAGCAGTGGTTTGTAGTTC		SPRR3	ENSG00000163209.15	transcript	ENST00000295367.5	protein_coding					2445		chr1	TogoVar
SPRR5_chr1_152942206_152954255	152944620	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01109.hp1 others(14): Show HG00280.hp2 HG00733.hp1 HG01109.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02015.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02559.hp1 HG02809.hp2 HG03209.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0005 a0002c0002t0001 a0003c0004t0005	a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0022 others(3): Show a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0022 a0003c0004t0005g0008 a0003c0004t0005g0014 a0003c0004t0005g0021	17	436	0.0390	-24	c.-26 others(35): Show c.-2646_-2623delGTGTGTGTGTGTGTGTGTGTGTGC		SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding					2585		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359054	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01952.hp2 HG02015.hp1 others(19): Show HG01346.hp2 HG01952.hp2 HG02015.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02280.hp1 HG02300.hp1 HG02976.hp2 HG03041.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18947.hp1 NA18947.hp2 NA18960.hp2 NA18964.hp1 NA18979.hp1 NA18998.hp2 NA19002.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0002g0031 a0001c0001t0003g0010 a0001c0001t0003g0088 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0050 a0002c0002t0002g0122	22	352	0.0625	-24	c.56 others(35): Show c.5694_*5717delTATATATATATATATATATATATA		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4032		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359087	TATATATA others(17): Show TATATATATATATATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03486.hp1 HG03471.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0001c0001t0003 a0002c0002t0004	a0001c0001t0003g0089 a0002c0002t0004g0044 a0001c0001t0003g0089 a0002c0002t0004g0044	2	352	0.0057	-24	c.57 others(35): Show c.5727_*5750delATATATATATATATATATATATAA		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4065		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02572.hp1 HG00544.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0095 a0001c0002t0094 a0001c0001t0095 a0001c0002t0094	a0001c0001t0095g0035 a0001c0002t0094g0051 a0001c0001t0095g0035 a0001c0002t0094g0051	2	231	0.0087	-24	c.-28 others(45): Show c.-282+25699_-282+25722delATATATATATATATATATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155738984	CTGGCCAG others(17): Show CTGGCCAGAGGCAGCAGGCTGGAGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG01891.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0076 a0001c0001t0010 a0001c0002t0076	a0001c0001t0010g0104 a0001c0002t0076g0103 a0001c0001t0010g0104 a0001c0002t0076g0103	2	231	0.0087	-24	c.-28 others(45): Show c.-281-28953_-281-28930delTGGCCAGAGGCAGCAGGCTGGAGA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTAN1_chr9_128547587_128638662	128562969	AAAATATA others(17): Show AAAATATATATATACATGTATGTGT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02055.hp1 HG02109.hp2 others(17): Show HG02040.hp2 HG02055.hp1 HG02109.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 NA18949.hp1 NA18968.hp1 NA18975.hp2 NA18998.hp1 NA18999.hp1 NA19057.hp2 NA19081.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0001c0022 others(1): Show a0001c0002 a0001c0007 a0001c0022 a0002c0004	a0001c0002t0001 a0001c0007t0001 a0001c0022t0001 others(2): Show a0001c0002t0001 a0001c0007t0001 a0001c0022t0001 a0002c0004t0001 a0002c0004t0002	a0001c0002t0001g0180 a0001c0002t0001g0219 a0001c0002t0001g0220 others(17): Show a0001c0002t0001g0180 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0261 a0001c0007t0001g0272 a0001c0022t0001g0262 a0002c0004t0001g0285 a0002c0004t0002g0275 a0002c0004t0002g0276 a0002c0004t0002g0277 a0002c0004t0002g0278 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0281 a0002c0004t0002g0282 a0002c0004t0002g0283 a0002c0004t0002g0284	20	312	0.0641	-24	c.-3- others(39): Show c.-3-3767_-3-3744delAATATATATATACATGTATGTGTA		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54481391	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01123.hp1 others(23): Show HG00738.hp2 HG00741.hp2 HG01123.hp1 HG01175.hp1 HG01361.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02615.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0004t0004 a0001c0005t0008 a0001c0007t0013 a0001c0008t0005	a0001c0001t0001g0156 a0001c0001t0002g0367 a0001c0002t0001g0147 others(23): Show a0001c0001t0001g0156 a0001c0001t0002g0367 a0001c0002t0001g0147 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0154 a0001c0002t0006g0155 a0001c0002t0006g0157 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0006g0160 a0001c0002t0006g0281 a0001c0002t0006g0299 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0004t0004g0170 a0001c0005t0008g0176 a0001c0005t0008g0368 a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0007t0013g0108 a0001c0008t0005g0045 a0001c0008t0005g0046 a0001c0008t0005g0243 a0001c0008t0005g0245 a0001c0008t0005g0260	26	370	0.0703	-24	c.-48 others(43): Show c.-48+24900_-48+24923delGTGTGTGTGTGTGTGTGTGTGTGT		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54506123	CTAAATAA others(17): Show CTAAATAAATAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0110 a0001c0004t0007g0110	1	370	0.0027	-24	c.-47 others(43): Show c.-47-20232_-47-20209delTAAATAAATAAATAAATAAATAAA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54571576	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0038 a0001c0005t0011g0038	1	370	0.0027	-24	c.149 others(43): Show c.149-27514_149-27491delCACACACACACACACACACACACA		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40498373	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0012 a0012	a0012c0050 a0012c0050	a0012c0050t0001 a0012c0050t0001	a0012c0050t0001g0023 a0012c0050t0001g0023	1	234	0.0043	-24	c.784 others(39): Show c.784+793_784+816delATTTATTTATTTATTTATTTATTT		SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	7/35					INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64797467	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02572.hp1 others(1): Show HG01884.hp2 HG02280.hp2 HG02572.hp1 HG03486.hp2	a0001 a0006 a0001 a0006	a0001c0028 a0006c0029 a0001c0028 a0006c0029	a0001c0028t0012 a0006c0029t0001 a0001c0028t0012 a0006c0029t0001	a0001c0028t0012g0172 a0001c0028t0012g0173 a0006c0029t0001g0103 others(1): Show a0001c0028t0012g0172 a0001c0028t0012g0173 a0006c0029t0001g0103 a0006c0029t0001g0157	4	268	0.0149	-24	c.118 others(41): Show c.1182+238_1182+261delTTTTTTTTTTTTTTTTTTTTTTTT		SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	10/35						chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77564400	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG01071.hp2 others(24): Show HG00323.hp2 HG01069.hp1 HG01071.hp2 HG01256.hp2 HG01258.hp1 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp2 HG04228.hp1 NA18946.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019 a0001c0002t0020 a0001c0002t0051 a0001c0006t0018 a0001c0006t0022 a0001c0011t0041	a0001c0001t0001g0096 a0001c0001t0004g0005 a0001c0001t0004g0006 others(24): Show a0001c0001t0001g0096 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0111 a0001c0001t0004g0228 a0001c0001t0012g0227 a0001c0002t0005g0076 a0001c0002t0005g0077 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0007g0236 a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0007g0240 a0001c0002t0007g0241 a0001c0002t0007g0243 a0001c0002t0010g0066 a0001c0002t0010g0067 a0001c0002t0017g0214 a0001c0002t0019g0235 a0001c0002t0020g0002 a0001c0002t0051g0244 a0001c0006t0018g0075 a0001c0006t0022g0004 a0001c0011t0041g0079	27	246	0.1098	-24	c.757 others(41): Show c.757-1935_757-1912delGTGTGTGTGTGTGTGTGTGTGTGT		SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	5/11						chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13064284	GTTTTGTT others(17): Show GTTTTGTTTTTGTTTTTGTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02895.hp2 HG01884.hp1 HG02622.hp1 HG02895.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0001c0012 a0005c0010 a0001c0005 a0001c0012 a0005c0010	a0001c0005t0010 a0001c0012t0023 a0005c0010t0037 a0001c0005t0010 a0001c0012t0023 a0005c0010t0037	a0001c0005t0010g0231 a0001c0012t0023g0165 a0005c0010t0037g0167 a0001c0005t0010g0231 a0001c0012t0023g0165 a0005c0010t0037g0167	3	292	0.0103	-24	c.304 others(41): Show c.304-7950_304-7927delTGTTTTTGTTTTTGTTTTTGTTTT		SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTLC3_chr20_13003972_13174103	13116142	ACACCCGT others(17): Show ACACCCGTTGGTCTGGGTGACTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0037 a0005c0010t0037	a0005c0010t0037g0167 a0005c0010t0037g0167	1	292	0.0034	-24	c.933 others(41): Show c.933-1360_933-1337delCCGTTGGTCTGGGTGACTGTGCAC		SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
SRBD1_chr2_45383680_45616267	45414462	TAGTGTGT others(17): Show TAGTGTGTATATAGTGTGTGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03017.hp1 HG03239.hp2 others(2): Show HG02109.hp2 HG03017.hp1 HG03239.hp2 HG03942.hp2 NA20752.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0002c0004 a0009c0011 a0002c0002 a0002c0004 a0009c0011	a0002c0002t0001 a0002c0004t0001 a0009c0011t0001 a0002c0002t0001 a0002c0004t0001 a0009c0011t0001	a0002c0002t0001g0003 a0002c0004t0001g0076 a0002c0004t0001g0078 others(2): Show a0002c0002t0001g0003 a0002c0004t0001g0076 a0002c0004t0001g0078 a0002c0004t0001g0079 a0009c0011t0001g0117	5	358	0.0140	-24	c.233 others(43): Show c.2334-1193_2334-1170delGTACACACACACTATATACACACT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45421506	CAAACAAA others(17): Show CAAACAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03453.hp2 NA18522.hp1 HG02896.hp2 HG03453.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121	3	358	0.0084	-24	c.205 others(43): Show c.2050-1636_2050-1613delTTTTTTTTTTTTTTTTTTTTGTTT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20						chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31583628	ACAAAAAA others(17): Show ACAAAAAAAAAGCAAAAAAAAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02818.hp1 HG03225.hp2 others(1): Show HG01884.hp2 HG02818.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0143 a0001c0001t0001g0196 a0001c0001t0001g0320 others(1): Show a0001c0001t0001g0143 a0001c0001t0001g0196 a0001c0001t0001g0320 a0001c0001t0017g0144	4	386	0.0104	-24	c.-27 others(35): Show c.-2752_-2729delGGTTTTTTTTTTGCTTTTTTTTTG		SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding					2691		chr2	TogoVar
SRGAP1_chr12_63839700_64167217	63983797	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0112 a0001c0001t0006g0112	1	170	0.0059	-24	c.68- others(36): Show c.68-115_68-92delATATATATATATATATATATATAT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63983832	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0097 a0001c0001t0117g0097	1	170	0.0059	-24	c.68- others(36): Show c.68-105_68-82delATATATATATATATTTATATATAT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63992660	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01069.hp1 others(78): Show HG00408.hp1 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01978.hp2 HG02055.hp1 HG02056.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18979.hp1 NA18988.hp1 NA19030.hp1 NA19060.hp2 NA19079.hp1 NA19084.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0002c0004 a0003c0005 a0004c0012	a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 others(69): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0095 a0001c0001t0097 a0001c0001t0102 a0001c0001t0104 a0001c0001t0107 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0116 a0001c0001t0117 a0001c0001t0120 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0134 a0001c0001t0140 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0032 a0001c0002t0035 a0001c0002t0038 a0001c0002t0046 a0001c0002t0049 a0001c0002t0050 a0001c0002t0053 a0001c0002t0054 a0001c0002t0056 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0065 a0001c0002t0066 a0001c0002t0132 a0001c0003t0001 a0001c0003t0088 a0001c0006t0085 a0001c0006t0105 a0001c0007t0133 a0001c0010t0019 a0001c0013t0044 a0002c0004t0153 a0003c0005t0135 a0004c0012t0017	a0001c0001t0006g0112 a0001c0001t0007g0039 a0001c0001t0007g0077 others(78): Show a0001c0001t0006g0112 a0001c0001t0007g0039 a0001c0001t0007g0077 a0001c0001t0021g0150 a0001c0001t0068g0075 a0001c0001t0069g0163 a0001c0001t0070g0118 a0001c0001t0074g0134 a0001c0001t0077g0080 a0001c0001t0078g0128 a0001c0001t0079g0057 a0001c0001t0081g0164 a0001c0001t0082g0085 a0001c0001t0095g0010 a0001c0001t0097g0022 a0001c0001t0102g0166 a0001c0001t0104g0051 a0001c0001t0107g0054 a0001c0001t0110g0030 a0001c0001t0111g0055 a0001c0001t0112g0138 a0001c0001t0113g0152 a0001c0001t0116g0058 a0001c0001t0117g0097 a0001c0001t0120g0044 a0001c0001t0126g0050 a0001c0001t0127g0042 a0001c0001t0128g0031 a0001c0001t0134g0119 a0001c0001t0140g0092 a0001c0001t0142g0003 a0001c0001t0143g0007 a0001c0001t0144g0004 a0001c0001t0145g0005 a0001c0001t0146g0013 a0001c0001t0147g0132 a0001c0001t0148g0116 a0001c0002t0002g0008 a0001c0002t0002g0086 a0001c0002t0002g0161 a0001c0002t0003g0099 a0001c0002t0003g0124 a0001c0002t0004g0056 a0001c0002t0004g0111 a0001c0002t0013g0087 a0001c0002t0014g0129 a0001c0002t0016g0089 a0001c0002t0022g0169 a0001c0002t0024g0043 a0001c0002t0025g0146 a0001c0002t0026g0023 a0001c0002t0027g0046 a0001c0002t0032g0147 a0001c0002t0035g0029 a0001c0002t0038g0091 a0001c0002t0046g0048 a0001c0002t0049g0110 a0001c0002t0050g0088 a0001c0002t0053g0093 a0001c0002t0054g0084 a0001c0002t0056g0061 a0001c0002t0060g0125 a0001c0002t0061g0135 a0001c0002t0062g0041 a0001c0002t0065g0126 a0001c0002t0066g0104 a0001c0002t0132g0140 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0065 a0001c0003t0001g0079 a0001c0003t0001g0081 a0001c0003t0088g0066 a0001c0006t0085g0015 a0001c0006t0105g0151 a0001c0007t0133g0103 a0001c0010t0019g0168 a0001c0013t0044g0155 a0002c0004t0153g0114 a0003c0005t0135g0162 a0004c0012t0017g0113	81	170	0.4765	-24	c.426 others(41): Show c.426+2621_426+2644delACACACACACACACACACACACAC		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	145044650	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	56	0.0179	-24	c.67+ others(41): Show c.67+48161_67+48184delTTTTTTTTTTTTTTTTTTTTTTTT		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9						chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121354259	CTCCTTTC others(17): Show CTCCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0054 a0001c0005t0054	a0001c0005t0054g0270 a0001c0005t0054g0270	1	274	0.0037	-24	c.424 others(43): Show c.424-11032_424-11009delCCTTTCTTTCTTTCTTTCTTTCTT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121395945	ACGGCTTT others(17): Show ACGGCTTTTTGCCCCCCCGCCGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0022 a0003c0004t0022	a0003c0004t0022g0027 a0003c0004t0022g0027	1	274	0.0037	-24	c.80 others(35): Show c.8091_*8114delCGGCTTTTTGCCCCCCCGCCGCCG		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding					3072		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396263	GCCGCCGC others(17): Show GCCGCCGCGACTTTTTGCCCCCACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01934.hp1 HG02015.hp2 others(14): Show HG01361.hp1 HG01934.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02683.hp2 HG03654.hp2 HG04204.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18981.hp2 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0001 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0208 others(14): Show a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0008g0249 a0001c0001t0014g0218 a0001c0001t0014g0220	17	274	0.0620	-24	c.84 others(35): Show c.8409_*8432delCCGCCGCGACTTTTTGCCCCCACC		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding					3390		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121396410	CCCGCCGC others(17): Show CCCGCCGCCGCGGCTTTTTGCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG04204.hp1 HG02145.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0017 a0001c0001t0001 a0002c0002t0017	a0001c0001t0001g0232 a0002c0002t0017g0032 a0001c0001t0001g0232 a0002c0002t0017g0032	2	274	0.0073	-24	c.85 others(35): Show c.8556_*8579delCCGCCGCCGCGGCTTTTTGCCCCT		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding					3537		chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206372964	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0177 a0001c0003t0006g0177	1	182	0.0055	-24	c.424 others(43): Show c.424-11009_424-10986delCTTTCTTTCTTTCTTTCTTTCTTT		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9049914	GCCAAGTA others(17): Show GCCAAGTAGCTGGGACCTCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0055 a0001c0001t0032g0055	1	228	0.0044	-24	c.132 others(43): Show c.1324-2463_1324-2440delGAGGCTGAGGTCCCAGCTACTTGG		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	9/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9096937	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0079 a0001c0003t0018g0079	1	228	0.0044	-24	c.423 others(41): Show c.423+7719_423+7742delTATATATATATATATATATATATA		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9096958	TATATATA others(17): Show TATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0226 a0001c0004t0011g0226	1	228	0.0044	-24	c.423 others(41): Show c.423+7698_423+7721delGTATATATATATATATATATATAT		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21						chr3	TogoVar
SRMS_chr20_63533489_63552749	63535817	TCCTCACC others(17): Show TCCTCACCTGGCCTCCCGCCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-24	c.49 others(35): Show c.4977_*5000delGGGGGGGCGGGAGGCCAGGTGAGG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2671		chr20	TogoVar
SRP54_chr14_34977992_35034567	34998965	TTGTGTGT others(17): Show TTGTGTGTATGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0280 a0001c0001t0005g0280	1	396	0.0025	-24	c.79- others(37): Show c.79-585_79-562delATGTGTGTGTGTGTGTGTGTGTGT		SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76068067	GGATCACT others(17): Show GGATCACTTGATGTCAAGAGTTCGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	365	0.0027	-24	c.252 others(39): Show c.252-761_252-738delTCGAACTCTTGACATCAAGTGATC		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	2/15						chr17	TogoVar
SRPK1_chr6_35827966_35926098	35881426	CATATAGA others(17): Show CATATAGATATAGATATAGATATAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp2 others(68): Show HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02559.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA18991.hp1 NA19000.hp1 NA19001.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008 a0001c0002t0019	a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 others(67): Show a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0192 a0001c0001t0001g0222 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0002t0002g0005 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0299 a0001c0002t0002g0318 a0001c0002t0002g0329 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0008g0247 a0001c0002t0019g0291	71	342	0.2076	-24	c.478 others(41): Show c.478+5274_478+5297delCTATATCTATATCTATATCTATAT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15						chr6	TogoVar
SRPK1_chr6_35827966_35926098	35894221	AACTTAAA others(17): Show AACTTAAAAACTAGTTAATATGAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	342	0.0029	-24	c.75- others(39): Show c.75-3232_75-3209delATTCATATTAACTAGTTTTTAAGT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	2/15						chr6	TogoVar
SRPK2_chr7_105111374_105393921	105170836	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01106.hp2 others(5): Show HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG02080.hp2 HG02683.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0102 a0001c0001t0001g0138 a0001c0001t0001g0181 others(5): Show a0001c0001t0001g0102 a0001c0001t0001g0138 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0002g0228 a0001c0001t0002g0262 a0001c0001t0002g0272 a0001c0001t0004g0107	8	282	0.0284	-24	c.230 others(41): Show c.230-1595_230-1572delTCTTTCTTTCTTTCTTTCTTTCTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15						chr7	TogoVar

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