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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SP110_chr2_230160186_230224984	230198123	T T	TGGAAGTC others(12): Show TGGAAGTCCTTTGTAGGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00597.hp1 others(77): Show HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01943.hp2 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18959.hp2 NA18960.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19065.hp2 NA19076.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0007 a0008 a0010 a0011 a0015 a0016 a0026 a0031	a0001c0001 a0001c0007 a0001c0034 others(15): Show a0001c0001 a0001c0007 a0001c0034 a0004c0012 a0005c0006 a0005c0010 a0007c0008 a0007c0038 a0008c0011 a0010c0009 a0011c0014 a0011c0049 a0015c0016 a0016c0026 a0016c0032 a0016c0033 a0026c0039 a0031c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0048 a0001c0007t0009 a0001c0007t0014 a0001c0007t0047 a0001c0034t0035 a0004c0012t0013 a0004c0012t0028 a0004c0012t0056 a0005c0006t0001 a0005c0006t0005 a0005c0006t0012 a0005c0006t0018 a0005c0006t0081 a0005c0010t0014 a0007c0008t0006 a0007c0008t0037 a0007c0008t0088 a0007c0008t0090 a0007c0038t0001 a0008c0011t0001 a0008c0011t0002 a0008c0011t0006 a0008c0011t0014 a0008c0011t0028 a0008c0011t0029 a0010c0009t0001 a0010c0009t0002 a0010c0009t0005 a0010c0009t0019 a0010c0009t0034 a0010c0009t0092 a0011c0014t0008 a0011c0049t0055 a0015c0016t0004 a0015c0016t0020 a0015c0016t0054 a0016c0026t0013 a0016c0032t0032 a0016c0033t0032 a0026c0039t0003 a0031c0048t0036	a0001c0001t0001g0158 a0001c0001t0001g0269 a0001c0001t0001g0270 others(73): Show a0001c0001t0001g0158 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0345 a0001c0001t0002g0268 a0001c0001t0019g0070 a0001c0001t0021g0181 a0001c0001t0021g0273 a0001c0001t0025g0395 a0001c0001t0048g0272 a0001c0007t0009g0193 a0001c0007t0014g0194 a0001c0007t0014g0195 a0001c0007t0047g0347 a0001c0034t0035g0173 a0004c0012t0013g0029 a0004c0012t0013g0287 a0004c0012t0013g0292 a0004c0012t0013g0304 a0004c0012t0028g0291 a0004c0012t0056g0200 a0005c0006t0001g0006 a0005c0006t0001g0072 a0005c0006t0001g0074 a0005c0006t0001g0076 a0005c0006t0001g0127 a0005c0006t0001g0128 a0005c0006t0001g0285 a0005c0006t0005g0073 a0005c0006t0005g0075 a0005c0006t0005g0126 a0005c0006t0005g0129 a0005c0006t0012g0125 a0005c0006t0018g0022 a0005c0006t0081g0286 a0005c0010t0014g0364 a0007c0008t0006g0003 a0007c0008t0006g0308 a0007c0008t0006g0310 a0007c0008t0037g0305 a0007c0008t0037g0306 a0007c0008t0088g0309 a0007c0008t0090g0289 a0007c0038t0001g0163 a0008c0011t0001g0135 a0008c0011t0002g0349 a0008c0011t0006g0303 a0008c0011t0014g0197 a0008c0011t0028g0307 a0008c0011t0029g0198 a0010c0009t0001g0143 a0010c0009t0001g0144 a0010c0009t0002g0330 a0010c0009t0005g0156 a0010c0009t0019g0340 a0010c0009t0019g0355 a0010c0009t0034g0145 a0010c0009t0092g0339 a0011c0014t0008g0117 a0011c0014t0008g0356 a0011c0014t0008g0357 a0011c0014t0008g0358 a0011c0014t0008g0359 a0011c0014t0008g0360 a0011c0049t0055g0024 a0015c0016t0004g0020 a0015c0016t0004g0116 a0015c0016t0020g0186 a0015c0016t0054g0187 a0016c0026t0013g0114 a0016c0032t0032g0371 a0016c0033t0032g0038 a0026c0039t0003g0025 a0031c0048t0036g0400	80	428	0.1869	19	c.112 others(38): Show c.1129+2761_1129+2762insGGCCCTACAAAGGACTTCC	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	10/18			chr2	TogoVar
SP110_chr2_230160186_230224984	230198124	G G	GGAAGTCC others(12): Show GGAAGTCCTTTGTAGGGCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0050 a0008c0011t0003g0050	1	428	0.0023	19	c.112 others(38): Show c.1129+2760_1129+2761insTGGCCCTACAAAGGACTTC	SP110	ENSG00000135899.20	transcript	ENST00000258381.11	protein_coding	10/18			chr2	TogoVar
SP140L_chr2_230322193_230408732	230354848	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	336	0.0030	19	c.108 others(36): Show c.108-2957_108-2956insAAAGAAAGAAAGAAAGAAA	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18			chr2	TogoVar
SP140_chr2_230220736_230318215	230288518	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp1 NA18991.hp1 HG01099.hp1 HG01346.hp1 NA18991.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0204 a0001c0001t0001g0297 a0002c0002t0001g0348 a0001c0001t0001g0204 a0001c0001t0001g0297 a0002c0002t0001g0348	3	370	0.0081	19	c.172 others(36): Show c.1720+558_1720+559insCTTTCTTTCTTTCTTCTTT	SP140	ENSG00000079263.19	transcript	ENST00000392045.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP1_chr12_53375176_53421446	53420527	T T	TCAGGTGA others(12): Show TCAGGTGATCCACCGCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0211 a0001c0002t0002g0211	1	326	0.0031	19	c.92 others(30): Show c.9287_*9288insCAGGTGATCCACCGCTAGC	SP1	ENSG00000185591.10	transcript	ENST00000327443.9	protein_coding		4082		chr12	TogoVar
SP3_chr2_173895775_173970373	173939764	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp2 HG01884.hp2 others(3): Show HG01071.hp2 HG01167.hp2 HG01884.hp2 HG02109.hp1 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0001t0007 a0001c0004t0007 a0001c0001t0006 a0001c0001t0007 a0001c0004t0007	a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0007g0134 others(3): Show a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0007g0134 a0001c0004t0007g0316 a0001c0004t0007g0318 a0001c0004t0007g0319	6	356	0.0169	19	c.163 others(40): Show c.1639+15108_1639+15109insTTTTTTTTTTTTTTTTTTT	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	4/6			chr2	TogoVar
SP3_chr2_173895775_173970373	173964307	A A	ACGAGGAG others(12): Show ACGAGGAGGGAGGGGTGAGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03688.hp2 HG03669.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	356	0.0056	19	c.156 others(32): Show c.156+79_156+97dupCCTCACCCCTCCCTCCTCG	SP3	ENSG00000172845.18	transcript	ENST00000310015.12	protein_coding	2/6			chr2	TogoVar
SP4_chr7_21423083_21519822	21428010	C C	CCGCGCCG others(12): Show CCGCGCCGCGCGCCGCCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0251 a0001c0005t0026g0251	1	426	0.0024	19	c.-24 others(28): Show c.-242_-241insCGCGCCGCGCGCCGCCGCT	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding		72		chr7	TogoVar
SPACA4_chr19_48601742_48612714	48602704	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA19067.hp1 HG00408.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	392	0.0051	19	c.-42 others(30): Show c.-4275_-4274insAAAAAAAAAATATATATAT	SPACA4	ENSG00000177202.3	transcript	ENST00000321762.3	protein_coding		4037		chr19	TogoVar
SPACA5B_chrX_48125626_48137620	48135323	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	312	0.0032	19	c.27 others(30): Show c.2794_*2795insTTCTTTCTTTCTTTCTTTC	SPACA5B	ENSG00000171478.8	transcript	ENST00000304270.6	protein_coding		2704		chrX	TogoVar
SPACA5_chrX_48001988_48014733	48012915	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01167.hp1 HG01168.hp2 others(4): Show HG00323.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01934.hp1 HG02897.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	7	292	0.0240	19	c.32 others(30): Show c.3270_*3271insAAAAAAAAAAAAAAAAAAA	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3183		chrX	TogoVar
SPAG16_chr2_213279464_214415501	213642820	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18992.hp1 HG06807.hp2 NA18992.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0051 a0003c0003t0001g0043 a0002c0002t0001g0051 a0003c0003t0001g0043	2	86	0.0233	19	c.107 others(42): Show c.1070+152741_1070+152759dupAAAAAAAAAAAAAAAAAAA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118062366	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0018 a0018	a0018c0031 a0018c0031	a0018c0031t0002 a0018c0031t0002	a0018c0031t0002g0007 a0018c0031t0002g0007	1	266	0.0038	19	c.254 others(38): Show c.2540+4360_2540+4378dupTTTTTTTTTTTTTTTTTTT	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	18/48			chr1	TogoVar
SPAG17_chr1_117948590_118190228	118069344	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04184.hp1 HG04204.hp2 others(3): Show HG00423.hp1 HG04184.hp1 HG04204.hp2 NA18973.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0003 a0004 a0009 others(1): Show a0003 a0004 a0009 a0028	a0003c0003 a0004c0005 a0009c0012 others(1): Show a0003c0003 a0004c0005 a0009c0012 a0028c0040	a0003c0003t0001 a0004c0005t0001 a0009c0012t0001 others(1): Show a0003c0003t0001 a0004c0005t0001 a0009c0012t0001 a0028c0040t0001	a0003c0003t0001g0118 a0003c0003t0001g0129 a0003c0003t0001g0130 others(3): Show a0003c0003t0001g0118 a0003c0003t0001g0129 a0003c0003t0001g0130 a0004c0005t0001g0243 a0009c0012t0001g0246 a0028c0040t0001g0122	6	266	0.0226	19	c.238 others(38): Show c.2386-2446_2386-2445insTTTTTTTTTTTTTTTTTTT	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	17/48			chr1	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02683.hp1 HG03516.hp1 others(1): Show HG02080.hp2 HG02683.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	320	0.0125	19	c.-58 others(28): Show c.-580_-579insAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG4_chr20_35610829_35626094	35615450	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	320	0.0031	19	c.-55 others(28): Show c.-554_-553insAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		378		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	330	0.0030	19	c.-18 others(30): Show c.-1805_-1804insATATATATATATTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	330	0.0030	19	c.-18 others(30): Show c.-1805_-1804insATATATATATATATATTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG8_chr9_35804795_35817262	35814490	C C	CTGACCTC others(12): Show CTGACCTCCGAGCCGCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	19	c.-23 others(30): Show c.-2362_-2344dupAGAAGCGGCTCGGAGGTCA	SPAG8	ENSG00000137098.14	transcript	ENST00000396638.7	protein_coding		2229		chr9	TogoVar
SPAG9_chr17_50957174_51125868	51027490	C C	CAACAGTA others(12): Show CAACAGTACACTCATAAGAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18994.hp1 NA19011.hp1 others(1): Show NA18944.hp1 NA18994.hp1 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0042 a0001c0001t0003g0046 others(1): Show a0001c0001t0003g0035 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0048	4	292	0.0137	19	c.783 others(36): Show c.783+4172_783+4190dupATCTTATGAGTGTACTGTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	6/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51104932	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02055.hp1 HG02970.hp2 others(2): Show HG01168.hp2 HG02055.hp1 HG02970.hp2 HG03516.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0005 a0002c0004t0005 a0002c0004t0015 a0002c0003t0005 a0002c0004t0005 a0002c0004t0015	a0002c0003t0005g0093 a0002c0004t0005g0001 a0002c0004t0005g0006 others(2): Show a0002c0003t0005g0093 a0002c0004t0005g0001 a0002c0004t0005g0006 a0002c0004t0005g0010 a0002c0004t0015g0008	5	292	0.0171	19	c.303 others(38): Show c.303+15421_303+15422insTTTTTTTTTTTTTTTTTTT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	1/29			chr17	TogoVar
SPANXB1_chrX_140997594_141008706	141000925	A A	AAGAGAAA others(12): Show AAGAGAAAAGTAGCTCAGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0010 a0004c0005t0003g0010	1	301	0.0033	19	c.-17 others(30): Show c.-1769_-1768insAGAGAAAAGTAGCTCAGTT	SPANXB1	ENSG00000227234.2	transcript	ENST00000449283.2	protein_coding		1668		chrX	TogoVar
SPAST_chr2_32058556_32162637	32066998	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	342	0.0029	19	c.415 others(36): Show c.415+2761_415+2762insAAAAAAAACCAAAAAAAAA	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083774	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18972.hp2 NA18963.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0223 a0001c0001t0001g0151 a0001c0001t0001g0223	2	342	0.0059	19	c.416 others(36): Show c.416-3717_416-3716insTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18984.hp2 NA19000.hp1 HG02572.hp1 NA18984.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0167 a0001c0001t0001g0340 a0001c0001t0001g0120 a0001c0001t0001g0167 a0001c0001t0001g0340	3	342	0.0088	19	c.416 others(36): Show c.416-3701_416-3700insTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190260	C C	CATTATAT others(12): Show CATTATATAACATATGGTAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0102 a0002c0008t0102	a0002c0008t0102g0270 a0002c0008t0102g0270	1	356	0.0028	19	c.-11 others(40): Show c.-112+29330_-112+29331insTATATAACATATGGTATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190260	C C	CATTATAT others(12): Show CATTATATACCATATGGTAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp2 HG01255.hp1 others(12): Show HG00558.hp1 HG01081.hp2 HG01255.hp1 HG01257.hp2 HG02486.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA18992.hp2 NA19001.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0046 a0004c0012 a0006c0023	a0001c0001t0002 a0001c0001t0023 a0001c0002t0013 others(11): Show a0001c0001t0002 a0001c0001t0023 a0001c0002t0013 a0001c0002t0026 a0001c0002t0032 a0001c0002t0041 a0001c0002t0094 a0001c0002t0123 a0001c0003t0028 a0001c0003t0108 a0001c0004t0009 a0001c0046t0006 a0004c0012t0030 a0006c0023t0006	a0001c0001t0002g0162 a0001c0001t0023g0228 a0001c0002t0013g0075 others(12): Show a0001c0001t0002g0162 a0001c0001t0023g0228 a0001c0002t0013g0075 a0001c0002t0026g0206 a0001c0002t0032g0332 a0001c0002t0041g0083 a0001c0002t0094g0114 a0001c0002t0123g0234 a0001c0003t0028g0260 a0001c0003t0108g0215 a0001c0004t0009g0245 a0001c0046t0006g0005 a0004c0012t0030g0220 a0004c0012t0030g0242 a0006c0023t0006g0007	15	356	0.0421	19	c.-11 others(40): Show c.-112+29330_-112+29331insTATATACCATATGGTATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA16_chr3_172884357_173146235	173069112	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp1 HG02109.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0169 a0002c0005t0001g0075 a0001c0001t0001g0169 a0002c0005t0001g0075	2	200	0.0100	19	c.613 others(38): Show c.613-20019_613-20018insTTTTTTTTTTTTTTTTTTT	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	2/10			chr3	TogoVar
SPATA17_chr1_217626344_217876696	217770978	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG02109.hp2 others(5): Show HG01071.hp1 HG01071.hp2 HG02109.hp2 HG02622.hp1 HG02895.hp1 HG03195.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0056 a0001c0004t0004 a0001c0004t0008 a0001c0011t0037	a0001c0001t0001g0010 a0001c0001t0001g0164 a0001c0001t0002g0159 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0164 a0001c0001t0002g0159 a0001c0001t0004g0143 a0001c0001t0056g0075 a0001c0004t0004g0248 a0001c0004t0008g0241 a0001c0011t0037g0249	8	252	0.0318	19	c.520 others(36): Show c.520-3344_520-3326dupTTTTTTTTTTTTTTTTTTT	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG03017.hp2 others(3): Show HG00140.hp2 HG00438.hp2 HG03017.hp2 HG03486.hp2 HG03704.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0106 a0001c0001t0001g0133 others(3): Show a0001c0001t0001g0064 a0001c0001t0001g0106 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0156	6	420	0.0143	19	c.329 others(36): Show c.329+3609_329+3627dupTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31A6_chr9_42178659_42194887	42184473	G G	GTGTGTAT others(12): Show GTGTGTATTTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0030 a0006c0008t0003g0030	1	182	0.0055	19	c.190 others(34): Show c.190-591_190-590insATTTTTATTTTATTTGTGT	SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31C2_chr9_88124305_88143475	88132789	C C	CCTCCACC others(12): Show CCTCCACCACGCCACACCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(237): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0000 a0001 a0002 others(19): Show a0000 a0001 a0002 a0005 a0008 a0010 a0013 a0015 a0016 a0018 a0019 a0020 a0023 a0026 a0027 a0028 a0030 a0031 a0032 a0036 a0038 a0043	a0000c0023 a0000c0035 a0000c0037 others(32): Show a0000c0023 a0000c0035 a0000c0037 a0000c0051 a0001c0001 a0001c0003 a0001c0010 a0001c0012 a0001c0020 a0001c0028 a0001c0034 a0001c0044 a0002c0002 a0002c0021 a0005c0006 a0008c0013 a0008c0032 a0010c0016 a0013c0015 a0015c0027 a0015c0036 a0016c0022 a0018c0025 a0019c0024 a0020c0029 a0023c0059 a0026c0040 a0027c0041 a0028c0045 a0030c0038 a0031c0043 a0032c0039 a0036c0054 a0038c0052 a0043c0061	a0000c0023t0001 a0000c0035t0001 a0000c0037t0001 others(35): Show a0000c0023t0001 a0000c0035t0001 a0000c0037t0001 a0000c0051t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0003t0004 a0001c0010t0001 a0001c0012t0001 a0001c0020t0001 a0001c0028t0001 a0001c0034t0001 a0001c0044t0001 a0002c0002t0001 a0002c0021t0001 a0005c0006t0003 a0005c0006t0005 a0008c0013t0001 a0008c0032t0001 a0010c0016t0001 a0013c0015t0001 a0015c0027t0001 a0015c0036t0001 a0016c0022t0001 a0018c0025t0001 a0019c0024t0001 a0020c0029t0001 a0023c0059t0001 a0026c0040t0001 a0027c0041t0001 a0028c0045t0001 a0030c0038t0001 a0031c0043t0001 a0032c0039t0001 a0036c0054t0001 a0038c0052t0001 a0043c0061t0003	a0000c0023t0001g0094 a0000c0023t0001g0095 a0000c0035t0001g0123 others(183): Show a0000c0023t0001g0094 a0000c0023t0001g0095 a0000c0035t0001g0123 a0000c0037t0001g0110 a0000c0051t0001g0245 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0004g0167 a0001c0003t0001g0005 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0093 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0102 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0127 a0001c0003t0004g0103 a0001c0010t0001g0022 a0001c0010t0001g0049 a0001c0010t0001g0201 a0001c0010t0001g0208 a0001c0012t0001g0014 a0001c0012t0001g0116 a0001c0012t0001g0117 a0001c0012t0001g0124 a0001c0020t0001g0037 a0001c0020t0001g0106 a0001c0028t0001g0050 a0001c0034t0001g0122 a0001c0044t0001g0206 a0002c0002t0001g0029 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0247 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0267 a0002c0002t0001g0270 a0002c0002t0001g0286 a0002c0002t0001g0294 a0002c0002t0001g0297 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0021t0001g0248 a0002c0021t0001g0302 a0002c0021t0001g0303 a0005c0006t0003g0069 a0005c0006t0003g0070 a0005c0006t0003g0071 a0005c0006t0003g0072 a0005c0006t0003g0073 a0005c0006t0003g0074 a0005c0006t0003g0075 a0005c0006t0003g0077 a0005c0006t0003g0084 a0005c0006t0003g0313 a0005c0006t0003g0314 a0005c0006t0003g0315 a0005c0006t0003g0316 a0005c0006t0003g0318 a0005c0006t0003g0319 a0005c0006t0005g0312 a0008c0013t0001g0008 a0008c0013t0001g0254 a0008c0013t0001g0256 a0008c0032t0001g0059 a0010c0016t0001g0047 a0010c0016t0001g0187 a0010c0016t0001g0224 a0010c0016t0001g0226 a0013c0015t0001g0087 a0013c0015t0001g0088 a0013c0015t0001g0089 a0013c0015t0001g0090 a0013c0015t0001g0091 a0015c0027t0001g0225 a0015c0027t0001g0227 a0015c0036t0001g0118 a0016c0022t0001g0268 a0016c0022t0001g0269 a0016c0022t0001g0287 a0018c0025t0001g0125 a0018c0025t0001g0126 a0019c0024t0001g0119 a0019c0024t0001g0121 a0020c0029t0001g0211 a0020c0029t0001g0212 a0023c0059t0001g0309 a0026c0040t0001g0207 a0027c0041t0001g0165 a0028c0045t0001g0134 a0030c0038t0001g0115 a0031c0043t0001g0168 a0032c0039t0001g0109 a0036c0054t0001g0305 a0038c0052t0001g0249 a0043c0061t0003g0078	240	446	0.5381	19	c.327 others(32): Show c.327-98_327-80dupAGGGTGTGGCGTGGTGGAG	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	3/3			chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG03471.hp1 others(5): Show HG02965.hp1 HG03225.hp1 HG03471.hp1 NA18952.hp1 NA18970.hp2 NA19062.hp2 NA19068.hp1 NA19085.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0014	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0005c0006 a0014c0018	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0004c0004t0001 a0005c0006t0007 a0014c0018t0012	a0001c0001t0001g0015 a0001c0001t0005g0015 a0002c0002t0001g0015 others(3): Show a0001c0001t0001g0015 a0001c0001t0005g0015 a0002c0002t0001g0015 a0004c0004t0001g0015 a0005c0006t0007g0059 a0014c0018t0012g0046	8	360	0.0222	19	c.293 others(32): Show c.293+47_293+65dupTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA45_chr1_212825141_212852649	212826759	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG02809.hp1 NA18950.hp1 others(5): Show HG01516.hp2 HG02809.hp1 NA18950.hp1 NA18961.hp2 NA18969.hp2 NA19000.hp2 NA19068.hp1 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0136 a0002c0002t0001g0203 a0003c0003t0001g0190	8	402	0.0199	19	c.34 others(30): Show c.3482_*3483insTTTTTTTTTTTTTTTTTTT	SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding		3381		chr1	TogoVar
SPATA6L_chr9_4593316_4671480	4648714	T T	TAAATAAA others(12): Show TAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02273.hp1 HG02300.hp1 others(23): Show HG01361.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18981.hp2 NA18993.hp2 NA19000.hp1 NA19005.hp2 NA19063.hp2 NA19083.hp2 NA19088.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0036 a0001c0001t0038 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0097 others(23): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0090 a0001c0001t0002g0152 a0001c0001t0002g0330 a0001c0001t0010g0095 a0001c0001t0010g0166 a0001c0001t0013g0126 a0001c0001t0014g0167 a0001c0001t0019g0233 a0001c0001t0036g0192 a0001c0001t0038g0147 a0002c0002t0003g0260 a0002c0002t0003g0264 a0002c0002t0004g0254 a0002c0002t0004g0255 a0002c0002t0004g0261 a0002c0002t0004g0262 a0002c0002t0009g0377 a0002c0002t0009g0395	26	408	0.0637	19	c.226 others(36): Show c.226+7326_226+7327insTTTATTTATTTATTTATTT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	300	0.0033	19	c.39+ others(34): Show c.39+6751_39+6752insAAAAAAAAAAATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03942.hp2 HG01123.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0151 a0001c0001t0003g0049 a0001c0001t0002g0151 a0001c0001t0003g0049	2	300	0.0067	19	c.39+ others(34): Show c.39+6751_39+6752insAAAAAAAAATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0248 a0001c0001t0011g0248	1	300	0.0033	19	c.39+ others(34): Show c.39+6751_39+6752insAAAAAAATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG02896.hp1 HG02896.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0017 a0003c0006t0032 a0001c0001t0017 a0003c0006t0032	a0001c0001t0017g0142 a0003c0006t0032g0012 a0001c0001t0017g0142 a0003c0006t0032g0012	2	300	0.0067	19	c.39+ others(34): Show c.39+6751_39+6752insAAAAATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18954.hp1 NA18954.hp2 HG02071.hp1 NA18954.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0025 a0001c0001t0004 a0001c0001t0007 a0001c0001t0025	a0001c0001t0004g0046 a0001c0001t0007g0229 a0001c0001t0025g0239 a0001c0001t0004g0046 a0001c0001t0007g0229 a0001c0001t0025g0239	3	300	0.0100	19	c.39+ others(34): Show c.39+6751_39+6752insAAATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	ATATAAAT others(12): Show ATATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG02723.hp2 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0019 a0002c0004t0063 a0002c0004t0019 a0002c0004t0063	a0002c0004t0019g0285 a0002c0004t0063g0102 a0002c0004t0019g0285 a0002c0004t0063g0102	2	300	0.0067	19	c.39+ others(34): Show c.39+6750_39+6751insTATAAATATATATATATAT	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12			chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200477515	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0132 a0002c0004t0012g0132	1	300	0.0033	19	c.128 others(35): Show c.1282-116_1282-98dupAAAAAAAAAAAAAAAAAAA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49406379	A A	AGCTCAAG others(12): Show AGCTCAAGTGATCCTCCCAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	158	0.0063	19	c.-24 others(40): Show c.-244+35090_-244+35108dupGCTCAAGTGATCCTCCCAC	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPC24_chr19_11140493_11160782	11143635	C C	CAGGTCTT others(12): Show CAGGTCTTCAGGTCTTTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0150 a0001c0001t0079g0150	1	438	0.0023	19	c.35 others(30): Show c.3529_*3547dupCCCAAAGACCTGAAGACCT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding		1857		chr19	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 NA19030.hp1 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0182 a0001c0001t0185 a0001c0001t0182 a0001c0001t0185	a0001c0001t0182g0159 a0001c0001t0185g0157 a0001c0001t0182g0159 a0001c0001t0185g0157	2	438	0.0046	19	c.71 others(28): Show c.717_*718insTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	378	0.0027	19	c.114 others(36): Show c.114+6452_114+6453insTATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYC_chr11_65165233_65178374	65166385	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	19	c.-39 others(30): Show c.-3908_-3907insTTTTTTTTTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3847		chr11	TogoVar
SPDYC_chr11_65165233_65178374	65166391	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	19	c.-39 others(30): Show c.-3902_-3901insTTTTTTTTTTTTTTTTTTT	SPDYC	ENSG00000204710.3	transcript	ENST00000377185.3	protein_coding		3841		chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73111754	C C	CTTTTTTT others(12): Show CTTTTTTTCTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0179 a0001c0005t0001g0179	1	216	0.0046	19	c.130 others(34): Show c.130+368_130+369insAAAAAAAAGAAGAAAAAAA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	3/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73111754	C C	CTTTTTTT others(12): Show CTTTTTTTTCTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp1 HG01943.hp2 others(16): Show HG00438.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02300.hp1 HG03834.hp1 NA18747.hp2 NA18963.hp1 NA18971.hp1 NA18986.hp2 NA18992.hp1 NA19007.hp1 NA19012.hp2 NA19068.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 a0001c0002 a0001c0005 a0002c0004	a0001c0002t0001 a0001c0002t0021 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0021 a0001c0005t0001 a0002c0004t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0049 others(16): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0049 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0076 a0001c0002t0001g0091 a0001c0002t0001g0102 a0001c0002t0001g0108 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0021g0061 a0001c0005t0001g0087 a0002c0004t0001g0090	19	216	0.0880	19	c.130 others(34): Show c.130+368_130+369insAAAAAAAGAAGAAAAAAAA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	3/8			chr7	TogoVar

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