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
SPATA22_chr17_3435019_3476819	3435327	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01361.hp2 others(11): Show HG00597.hp1 HG00639.hp2 HG01361.hp2 HG02818.hp1 HG03225.hp1 HG03471.hp1 HG04184.hp2 NA18972.hp2 NA18979.hp1 NA19006.hp1 NA19043.hp2 NA19068.hp1 NA19086.hp2 NA19087.hp1	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0009	a0002c0002 a0002c0005 a0003c0003 others(2): Show a0002c0002 a0002c0005 a0003c0003 a0007c0009 a0009c0013	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0003c0003t0001 a0007c0009t0001 a0009c0013t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0017 others(8): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0017 a0002c0002t0001g0042 a0002c0002t0001g0260 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0005t0001g0267 a0003c0003t0001g0103 a0007c0009t0001g0209 a0009c0013t0001g0253	14	420	0.0333	-17	c.48 others(28): Show c.4803_*4819delAAAAAAAAAAAAAAAAA	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding		4691		chr17	TogoVar
SPATA31D3_chr9_81938500_81955093	81945273	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03710.hp1 NA18970.hp1 others(2): Show HG01243.hp1 HG03710.hp1 NA18970.hp1 NA18986.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0019 a0002c0002t0001g0019 a0001c0001t0001g0019 a0002c0002t0001g0019	5	380	0.0132	-17	c.293 others(30): Show c.293+69_293+85delTTTTTTTTTTTTTTTTT	SPATA31D3	ENSG00000186788.14	transcript	ENST00000445385.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA45_chr1_212825141_212852649	212826131	TTAGGTTG others(10): Show TTAGGTTGGACAGCACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	402	0.0025	-17	c.40 others(28): Show c.4094_*4110delCTGTGCTGTCCAACCTA	SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding		4009		chr1	TogoVar
SPATA4_chr4_176179579_176200585	176194722	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	456	0.0022	-17	c.218 others(32): Show c.218+606_218+622delAAAAAAAAAAAAAAAAA	SPATA4	ENSG00000150628.7	transcript	ENST00000280191.7	protein_coding	1/5			chr4	TogoVar
SPATA5_chr4_122918078_123324433	122930909	TTGTTTTA others(10): Show TTGTTTTAAAAAATCTTA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01934.hp2 HG02165.hp1 others(9): Show HG01346.hp1 HG01934.hp2 HG02165.hp1 HG02280.hp2 HG03098.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG04199.hp1 HG04228.hp2 NA18992.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0006 a0003c0003 a0004c0006	a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0022 a0003c0003t0023 a0003c0003t0042 a0003c0003t0055 a0004c0006t0054 a0004c0006t0056	a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0002g0015 others(9): Show a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0002g0015 a0003c0003t0005g0005 a0003c0003t0022g0009 a0003c0003t0022g0013 a0003c0003t0023g0007 a0003c0003t0023g0008 a0003c0003t0042g0006 a0003c0003t0055g0012 a0004c0006t0054g0004 a0004c0006t0056g0014	12	262	0.0458	-17	c.446 others(34): Show c.446+1739_446+1755delAAATCTTATGTTTTAAA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007577	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02559.hp1 others(10): Show HG01361.hp1 HG01891.hp1 HG02559.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0002c0002t0017 a0002c0002t0018 a0002c0002t0033 a0002c0002t0049 a0002c0002t0053 a0002c0002t0071	a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(10): Show a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 a0002c0002t0003g0161 a0002c0002t0003g0167 a0002c0002t0007g0166 a0002c0002t0010g0169 a0002c0002t0017g0165 a0002c0002t0018g0155 a0002c0002t0033g0159 a0002c0002t0049g0157 a0002c0002t0053g0156 a0002c0002t0071g0164	13	262	0.0496	-17	c.187 others(38): Show c.1870-20608_1870-20592delGTGTGTGTGTGTGTGTG	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15			chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4605146	AAGCCAGC others(10): Show AAGCCAGCCCTGACTCCC	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	408	0.0025	-17	c.108 others(34): Show c.1089+184_1089+200delGGGAGTCAGGGCTGGCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	10/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4638780	CTTTTCTT others(10): Show CTTTTCTTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG06807.hp1 HG01891.hp2 HG02145.hp1 HG06807.hp1	a0005 a0010 a0005 a0010	a0005c0009 a0010c0017 a0005c0009 a0010c0017	a0005c0009t0033 a0010c0017t0052 a0005c0009t0033 a0010c0017t0052	a0005c0009t0033g0175 a0005c0009t0033g0178 a0010c0017t0052g0185 a0005c0009t0033g0175 a0005c0009t0033g0178 a0010c0017t0052g0185	3	408	0.0074	-17	c.227 others(34): Show c.227-3398_227-3382delAAAAAAAGAAAAGAAAA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA6_chr1_48290373_48477204	48418544	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	322	0.0031	-17	c.239 others(34): Show c.239-5410_239-5394delTTTTTTTTTTTTTTTTT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	3/12			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46183499	AGGGGAGA others(10): Show AGGGGAGACCAGCTTGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01243.hp2 others(5): Show HG01070.hp1 HG01071.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG02738.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0037 a0003c0004t0007 a0003c0004t0037	a0003c0004t0007g0018 a0003c0004t0007g0167 a0003c0004t0007g0168 others(4): Show a0003c0004t0007g0018 a0003c0004t0007g0167 a0003c0004t0007g0168 a0003c0004t0007g0169 a0003c0004t0007g0170 a0003c0004t0007g0171 a0003c0004t0037g0166	8	251	0.0319	-17	c.-70 others(26): Show c.-700_-684delCGCAAGCTGGTCTCCCC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5	684		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46183956	GGAGGAGA others(10): Show GGAGGAGACCAGTCTTGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp1 others(58): Show HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04228.hp1 NA18954.hp2 NA18969.hp2 NA18970.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19076.hp1 NA19079.hp2 NA19087.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0001c0010 a0003c0004 others(2): Show a0001c0001 a0001c0010 a0003c0004 a0004c0005 a0009c0015	a0001c0001t0001 a0001c0001t0013 a0001c0001t0035 others(6): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0010t0001 a0003c0004t0012 a0004c0005t0012 a0009c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0013g0088 a0001c0001t0013g0101 a0001c0001t0013g0102 a0001c0001t0035g0087 a0001c0001t0036g0100 a0001c0001t0038g0108 a0001c0010t0001g0084 a0003c0004t0012g0104 a0004c0005t0012g0093 a0004c0005t0012g0096 a0009c0015t0001g0071	61	251	0.2430	-17	c.-95 others(34): Show c.-958-199_-958-183delGCAAGACTGGTCTCCTC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	1/4			chr21	TogoVar
SPATS2L_chr2_200301693_200487264	200396034	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	300	0.0033	-17	c.39+ others(32): Show c.39+6752_39+6768delTATATATATATATATAT	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12			chr2	TogoVar
SPATS2_chr12_49362462_49532425	49442786	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01071.hp1 others(16): Show HG00099.hp2 HG01069.hp1 HG01071.hp1 HG02055.hp2 HG02080.hp2 HG02135.hp1 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02922.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp1 HG06807.hp1 NA18945.hp2 NA18951.hp1 NA18961.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0002c0006t0001 a0001c0001t0001 a0001c0001t0003 a0002c0006t0001	a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0113 others(16): Show a0001c0001t0001g0036 a0001c0001t0001g0070 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0003g0119 a0002c0006t0001g0136	19	158	0.1203	-17	c.-24 others(38): Show c.-243-17964_-243-17948delAAAAAAAAAAAAAAAAA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATS2_chr12_49362462_49532425	49516157	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04199.hp2 HG04115.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0038 a0001c0001t0003g0039	2	158	0.0127	-17	c.898 others(34): Show c.898+1546_898+1562delAAAAAAAAATATATATA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPC24_chr19_11140493_11160782	11142628	CGGGGGCG others(10): Show CGGGGGCGGGGGTGGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp2 others(20): Show HG00423.hp1 HG00544.hp1 HG00558.hp2 HG02040.hp2 HG02074.hp2 HG03942.hp1 NA18941.hp1 NA18942.hp2 NA18947.hp1 NA18964.hp2 NA18971.hp1 NA18974.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18994.hp1 NA19007.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19068.hp2 NA19074.hp2 NA19089.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 others(17): Show a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0063 a0001c0001t0077 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0001t0149 a0001c0001t0166 a0003c0003t0062	a0001c0001t0036g0279 a0001c0001t0036g0290 a0001c0001t0037g0049 others(19): Show a0001c0001t0036g0279 a0001c0001t0036g0290 a0001c0001t0037g0049 a0001c0001t0038g0277 a0001c0001t0038g0305 a0001c0001t0063g0289 a0001c0001t0077g0283 a0001c0001t0111g0278 a0001c0001t0112g0284 a0001c0001t0113g0292 a0001c0001t0114g0299 a0001c0001t0115g0285 a0001c0001t0116g0286 a0001c0001t0117g0287 a0001c0001t0118g0291 a0001c0001t0119g0281 a0001c0001t0120g0073 a0001c0001t0121g0282 a0001c0001t0123g0280 a0001c0001t0149g0131 a0001c0001t0166g0288 a0003c0003t0062g0178	23	438	0.0525	-17	c.45 others(28): Show c.4538_*4554delATCCCACCCCCGCCCCC	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding		2864		chr19	TogoVar
SPDYA_chr2_28805834_28855610	28819850	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03710.hp2 HG02145.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0273 a0001c0001t0001g0043 a0001c0001t0001g0273	2	338	0.0059	-17	c.294 others(32): Show c.294+745_294+761delTATATATATATATATAT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7			chr2	TogoVar
SPDYA_chr2_28805834_28855610	28854738	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(22): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG02015.hp1 HG02145.hp1 HG02148.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04204.hp2 NA18959.hp1 NA18977.hp1 NA18983.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0200 others(22): Show a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0271 a0001c0001t0001g0272	25	338	0.0740	-17	c.47 others(28): Show c.4798_*4814delAAAAAAAAAAAAAAAAA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding		4129		chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73150908	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	216	0.0046	-17	c.-64 others(36): Show c.-640+4398_-640+4414delATATATATATATATATA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76537347	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02897.hp2 HG02486.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0021 a0002c0002t0017 a0002c0002t0021	a0002c0002t0017g0046 a0002c0002t0021g0047 a0002c0002t0017g0046 a0002c0002t0021g0047	2	255	0.0078	-17	c.669 others(32): Show c.669+129_669+145delTTTTTTTTTTTTTTTTT	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	5/8			chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67274831	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG02486.hp2 others(5): Show HG01106.hp1 HG01243.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02738.hp1 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0015 a0001c0001t0005g0029 others(4): Show a0001c0001t0005g0008 a0001c0001t0005g0015 a0001c0001t0005g0029 a0001c0001t0005g0048 a0001c0001t0005g0103 a0001c0001t0005g0106 a0001c0001t0005g0111	8	460	0.0174	-17	c.-26 others(28): Show c.-2653_-2637delAAAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding		2109		chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102658086	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02165.hp2 HG01168.hp1 HG02165.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0022 a0001c0001 a0008c0022	a0001c0001t0001 a0008c0022t0022 a0001c0001t0001 a0008c0022t0022	a0001c0001t0001g0050 a0008c0022t0022g0018 a0001c0001t0001g0050 a0008c0022t0022g0018	2	128	0.0156	-17	c.755 others(32): Show c.755+464_755+480delAAAAAAAAAAAAAAAAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102351914	CACACACA others(10): Show CACACACACACAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02109.hp2 others(11): Show HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG03130.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0005 a0001c0004t0013 a0002c0002t0006 a0001c0004t0005 a0001c0004t0013 a0002c0002t0006	a0001c0004t0005g0009 a0001c0004t0005g0051 a0001c0004t0005g0243 others(5): Show a0001c0004t0005g0009 a0001c0004t0005g0051 a0001c0004t0005g0243 a0001c0004t0005g0244 a0001c0004t0013g0055 a0002c0002t0006g0218 a0002c0002t0006g0219 a0002c0002t0006g0221	14	439	0.0319	-17	c.669 others(32): Show c.669+135_669+151delTTTTTTTGTGTGTGTGT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding	4/7			chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102351918	CACACACA others(10): Show CACACACAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18965.hp2 HG01168.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0030 a0002c0002 a0002c0030	a0002c0002t0008 a0002c0030t0002 a0002c0002t0008 a0002c0030t0002	a0002c0002t0008g0058 a0002c0030t0002g0091 a0002c0002t0008g0058 a0002c0030t0002g0091	2	439	0.0046	-17	c.669 others(32): Show c.669+131_669+147delTTTTTTTTTTTGTGTGT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding	4/7			chr7	TogoVar
SPECC1_chr17_20004359_20324026	20051128	CTTTCTTT others(10): Show CTTTCTTTCTTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0187 a0001c0001t0027g0187	1	250	0.0040	-17	c.-22 others(36): Show c.-22+41707_-22+41723delTCTTTCTTTCCTTCTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20240060	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0110 a0003c0004t0110	a0003c0004t0110g0083 a0003c0004t0110g0083	1	250	0.0040	-17	c.235 others(36): Show c.2352-5850_2352-5834delTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35687915	ATTGCAAG others(10): Show ATTGCAAGCAAAAAATTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0025 a0025	a0025c0054 a0025c0054	a0025c0054t0001 a0025c0054t0001	a0025c0054t0001g0185 a0025c0054t0001g0185	1	268	0.0037	-17	c.152 others(36): Show c.1525-3107_1525-3091delTTTTTGCAAGCAAAAAA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	10/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEN_chr1_15842707_15945456	15849066	TGTAGTGC others(10): Show TGTAGTGCGTTTTCTTTG	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0292 a0002c0002t0001g0292	1	304	0.0033	-17	c.83+ others(30): Show c.83+917_83+933delGTAGTGCGTTTTCTTTG	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	1/14			chr1	TogoVar
SPG11_chr15_44557696_44668662	44633324	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	190	0.0053	-17	c.173 others(34): Show c.1735+164_1735+180delTTTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	8/39			chr15	TogoVar
SPG11_chr15_44557696_44668662	44636941	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02970.hp1 others(4): Show HG02572.hp1 HG02895.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG06807.hp1	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0022	a0002c0002 a0006c0006 a0007c0008 others(1): Show a0002c0002 a0006c0006 a0007c0008 a0022c0014	a0002c0002t0001 a0006c0006t0001 a0007c0008t0001 others(1): Show a0002c0002t0001 a0006c0006t0001 a0007c0008t0001 a0022c0014t0001	a0002c0002t0001g0176 a0002c0002t0001g0177 a0006c0006t0001g0043 others(4): Show a0002c0002t0001g0176 a0002c0002t0001g0177 a0006c0006t0001g0043 a0006c0006t0001g0179 a0007c0008t0001g0186 a0007c0008t0001g0187 a0022c0014t0001g0185	7	190	0.0368	-17	c.160 others(36): Show c.1603-3321_1603-3305delGTTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39			chr15	TogoVar
SPG7_chr16_89503403_89562766	89514308	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	358	0.0028	-17	c.376 others(34): Show c.376+1287_376+1303delTTTTTTTTTTTTTTTTT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPHKAP_chr2_227974955_228186687	228012280	TGCTTGTC others(10): Show TGCTTGTCTTCCTTTAAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp1 NA21309.hp1 HG02723.hp1 HG03130.hp1 NA21309.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0031 a0001c0001 a0021c0031	a0001c0001t0008 a0021c0031t0015 a0001c0001t0008 a0021c0031t0015	a0001c0001t0008g0112 a0001c0001t0008g0264 a0021c0031t0015g0266 a0001c0001t0008g0112 a0001c0001t0008g0264 a0021c0031t0015g0266	3	322	0.0093	-17	c.444 others(36): Show c.4448+4109_4448+4125delTTTAAAGGAAGACAAGC	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	7/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228092465	TGCCATAT others(10): Show TGCCATATATATGTATAC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0001	a0017c0022t0001g0159 a0017c0022t0001g0159	1	322	0.0031	-17	c.246 others(36): Show c.246+16350_246+16366delGTATACATATATATGGC	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228092537	ATGTGCCA others(10): Show ATGTGCCATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02895.hp2 HG02897.hp2 others(2): Show HG01358.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03540.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0003 a0004c0004 a0005c0003	a0004c0004t0003 a0005c0003t0001 a0004c0004t0003 a0005c0003t0001	a0004c0004t0003g0259 a0005c0003t0001g0265 a0005c0003t0001g0289 others(2): Show a0004c0004t0003g0259 a0005c0003t0001g0265 a0005c0003t0001g0289 a0005c0003t0001g0290 a0005c0003t0001g0293	5	322	0.0155	-17	c.246 others(36): Show c.246+16278_246+16294delCACATATATATGGCACA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPICE1_chr3_113437718_113520156	113449293	GGCACATA others(10): Show GGCACATAGTACATGTTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00597.hp2 others(33): Show HG00323.hp1 HG00544.hp1 HG00597.hp2 HG01106.hp2 HG01891.hp1 HG02145.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02738.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp2 HG03471.hp1 HG03704.hp2 HG03927.hp1 NA18522.hp1 NA18951.hp1 NA18952.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18985.hp1 NA18989.hp2 NA18991.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19085.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0010 a0001c0012 a0002c0003 others(3): Show a0001c0010 a0001c0012 a0002c0003 a0002c0008 a0005c0009 a0006c0013	a0001c0010t0022 a0001c0010t0026 a0001c0012t0017 others(7): Show a0001c0010t0022 a0001c0010t0026 a0001c0012t0017 a0002c0003t0005 a0002c0003t0009 a0002c0003t0021 a0002c0003t0030 a0002c0008t0012 a0005c0009t0013 a0006c0013t0018	a0001c0010t0022g0010 a0001c0010t0026g0320 a0001c0012t0017g0315 others(33): Show a0001c0010t0022g0010 a0001c0010t0026g0320 a0001c0012t0017g0315 a0001c0012t0017g0316 a0002c0003t0005g0334 a0002c0003t0005g0335 a0002c0003t0005g0336 a0002c0003t0005g0338 a0002c0003t0005g0339 a0002c0003t0005g0340 a0002c0003t0005g0341 a0002c0003t0005g0342 a0002c0003t0005g0344 a0002c0003t0005g0347 a0002c0003t0005g0348 a0002c0003t0005g0352 a0002c0003t0005g0353 a0002c0003t0005g0354 a0002c0003t0005g0356 a0002c0003t0009g0343 a0002c0003t0009g0345 a0002c0003t0009g0346 a0002c0003t0009g0349 a0002c0003t0009g0350 a0002c0003t0009g0351 a0002c0003t0009g0355 a0002c0003t0021g0011 a0002c0003t0030g0337 a0002c0008t0012g0110 a0002c0008t0012g0165 a0002c0008t0012g0178 a0005c0009t0013g0242 a0005c0009t0013g0243 a0005c0009t0013g0244 a0006c0013t0018g0313 a0006c0013t0018g0314	36	364	0.0989	-17	c.232 others(36): Show c.2323+1026_2323+1042delGAACATGTACTATGTGC	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	15/17			chr3	TogoVar
SPIDR_chr8_47255938_47741306	47368343	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG02145.hp1 others(5): Show HG00323.hp2 HG01243.hp2 HG02145.hp1 HG03540.hp1 HG03942.hp1 NA18987.hp1 NA19056.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0101 others(5): Show a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0002g0050 a0001c0001t0002g0056	8	216	0.0370	-17	c.526 others(36): Show c.526-28008_526-27992delAAAAAAAAAAAAAAAAA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47536615	AAAATAGA others(10): Show AAAATAGATCATAGACCT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	216	0.0046	-17	c.109 others(38): Show c.1098-59191_1098-59175delAGATCATAGACCTAAAT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINDOC_chr11_63808456_63832716	63832007	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	392	0.0026	-17	c.48 others(28): Show c.4869_*4885delTTTTTTTTTTTTTTTTT	SPINDOC	ENSG00000168005.9	transcript	ENST00000294244.9	protein_coding		4292		chr11	TogoVar
SPINK2_chr4_56804861_56826701	56805163	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	428	0.0023	-17	c.49 others(28): Show c.4959_*4975delTTTTTTTTTTTTTTTTT	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding		4697		chr4	TogoVar
SPINK4_chr9_33235167_33253567	33249950	GGACTGAT others(10): Show GGACTGATTCATACCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	378	0.0027	-17	c.14 others(28): Show c.1480_*1496delGACTGATTCATACCTGT	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		1384		chr9	TogoVar
SPINT2_chr19_38259573_38297615	38259637	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	400	0.0025	-17	c.-52 others(28): Show c.-5255_-5239delTATTTTTTTTTTTTTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4935		chr19	TogoVar
SPINT2_chr19_38259573_38297615	38259639	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18977.hp1 NA19080.hp1 others(1): Show NA18966.hp1 NA18977.hp1 NA19080.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0184 a0001c0001t0001g0197 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0201	4	400	0.0100	-17	c.-52 others(28): Show c.-5253_-5237delTTTTTTTTTTTTTTTTT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding		4933		chr19	TogoVar
SPOCK1_chr5_136970298_137504326	137127102	GGGTCAGC others(10): Show GGGTCAGCCATCGCAACA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	152	0.0066	-17	c.347 others(36): Show c.347+13461_347+13477delTGTTGCGATGGCTGACC	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137292426	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0124 a0001c0001t0032g0124	1	152	0.0066	-17	c.187 others(36): Show c.187-25388_187-25372delTTTTTTTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137449886	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	152	0.0066	-17	c.186 others(36): Show c.186+48470_186+48486delTTTTTTTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPON1_chr11_13957723_14273133	13990373	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02258.hp2 HG02280.hp1 others(7): Show HG00642.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03516.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0017 a0001c0001t0003g0198 a0001c0001t0004g0183 others(7): Show a0001c0001t0001g0017 a0001c0001t0003g0198 a0001c0001t0004g0183 a0001c0001t0004g0222 a0001c0001t0014g0019 a0001c0001t0019g0218 a0001c0002t0001g0018 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0003t0001g0101	10	224	0.0446	-17	c.345 others(34): Show c.345+7438_345+7454delTTTTTTTTTTTTTTTTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	224	0.0045	-17	c.677 others(36): Show c.677-21816_677-21800delTTTTTTTTTTTTTTTTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPOUT1_chr9_128814651_128834794	128830632	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG01243.hp1 others(7): Show HG00408.hp1 HG00558.hp2 HG01243.hp1 HG02602.hp2 HG04115.hp2 HG06807.hp2 NA19000.hp2 NA19003.hp1 NA19010.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0002c0002t0002 a0003c0003t0004 others(1): Show a0001c0001t0003 a0002c0002t0002 a0003c0003t0004 a0003c0003t0009	a0001c0001t0003g0060 a0002c0002t0002g0005 a0003c0003t0004g0006 others(2): Show a0001c0001t0003g0060 a0002c0002t0002g0005 a0003c0003t0004g0006 a0003c0003t0004g0012 a0003c0003t0009g0013	10	410	0.0244	-17	c.-86 others(26): Show c.-869_-853delAAAAAAAAAAAAAAAAA	SPOUT1	ENSG00000198917.13	transcript	ENST00000361256.10	protein_coding		839		chr9	TogoVar
SPPL3_chr12_120757510_120909358	120777096	AATATGTG others(10): Show AATATGTGGTTCACAGTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0132 a0001c0001t0012g0132	1	320	0.0031	-17	c.502 others(34): Show c.502+5542_502+5558delGACTGTGAACCACATAT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	6/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120852607	TATAATAT others(10): Show TATAATATACATATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp1 HG00323.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0227 a0001c0001t0001g0237	2	320	0.0063	-17	c.24- others(34): Show c.24-41738_24-41722delTAAAATATGTATATTAT	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED2_chr2_65305851_65437599	65335905	AGCCCAAT others(10): Show AGCCCAATCTTGTTCTGG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18950.hp1 NA18612.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0156 a0001c0002t0001g0153 a0001c0002t0001g0156	2	276	0.0073	-17	c.205 others(34): Show c.205-1149_205-1133delCCAGAACAAGATTGGGC	SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	2/5			chr2	TogoVar

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