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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Select column to sort.

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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
SPATA48_chr7_50090883_50164256	50125253	TATATATA others(17): Show TATATATACACACATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0287 a0003c0003t0001g0287	1	328	0.0031	-24	c.652 others(41): Show c.652-4452_652-4429delCATATATATACACATATATACACA	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA48_chr7_50090883_50164256	50145614	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02074.hp2 HG02080.hp2 others(14): Show HG00423.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02523.hp2 NA18944.hp1 NA18947.hp2 NA18972.hp2 NA18977.hp2 NA18981.hp1 NA18988.hp1 NA18991.hp1 NA18995.hp2 NA19056.hp2 NA19065.hp2 NA19087.hp1 NA19089.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0030 a0001c0001t0001g0122 a0001c0001t0001g0143 others(14): Show a0001c0001t0001g0030 a0001c0001t0001g0122 a0001c0001t0001g0143 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0234 a0001c0001t0001g0235 a0005c0008t0001g0190 a0005c0008t0001g0208	17	328	0.0518	-24	c.108 others(43): Show c.1085+4228_1085+4251delGTGTATATATATATATATATATAT	SPATA48	ENSG00000164500.7	transcript	ENST00000297001.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA5_chr4_122918078_123324433	122956504	CTAAGGAG others(17): Show CTAAGGAGAGCATCAGTTGATAAAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(214): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19003.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0003c0003 a0004c0006 a0005c0007 a0007c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(72): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0004t0002 a0001c0004t0011 a0001c0004t0013 a0001c0004t0031 a0001c0004t0032 a0001c0004t0069 a0001c0005t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0002c0002t0017 a0002c0002t0018 a0002c0002t0033 a0002c0002t0049 a0002c0002t0053 a0002c0002t0071 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0022 a0003c0003t0023 a0003c0003t0042 a0003c0003t0055 a0004c0006t0054 a0004c0006t0056 a0005c0007t0064 a0005c0007t0066 a0007c0011t0002 a0008c0010t0002	a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(214): Show a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0255 a0001c0001t0003g0066 a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0003g0182 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0249 a0001c0001t0004g0102 a0001c0001t0004g0170 a0001c0001t0004g0196 a0001c0001t0004g0228 a0001c0001t0004g0239 a0001c0001t0005g0028 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0070 a0001c0001t0006g0003 a0001c0001t0006g0098 a0001c0001t0006g0240 a0001c0001t0007g0177 a0001c0001t0007g0198 a0001c0001t0007g0259 a0001c0001t0008g0017 a0001c0001t0011g0178 a0001c0001t0013g0071 a0001c0001t0015g0181 a0001c0001t0016g0044 a0001c0001t0016g0213 a0001c0001t0018g0184 a0001c0001t0019g0001 a0001c0001t0019g0002 a0001c0001t0020g0052 a0001c0001t0020g0210 a0001c0001t0021g0179 a0001c0001t0021g0180 a0001c0001t0024g0029 a0001c0001t0024g0048 a0001c0001t0025g0067 a0001c0001t0025g0069 a0001c0001t0027g0106 a0001c0001t0028g0025 a0001c0001t0034g0262 a0001c0001t0035g0261 a0001c0001t0037g0153 a0001c0001t0038g0154 a0001c0001t0040g0248 a0001c0001t0043g0172 a0001c0001t0044g0236 a0001c0001t0045g0215 a0001c0001t0046g0183 a0001c0001t0047g0225 a0001c0001t0048g0030 a0001c0001t0050g0190 a0001c0001t0051g0174 a0001c0001t0058g0226 a0001c0001t0060g0081 a0001c0001t0061g0047 a0001c0001t0062g0237 a0001c0001t0063g0053 a0001c0001t0065g0063 a0001c0001t0068g0056 a0001c0001t0072g0045 a0001c0001t0073g0019 a0001c0001t0074g0076 a0001c0001t0075g0260 a0001c0004t0002g0142 a0001c0004t0002g0145 a0001c0004t0011g0148 a0001c0004t0011g0149 a0001c0004t0013g0144 a0001c0004t0031g0147 a0001c0004t0032g0146 a0001c0004t0069g0143 a0001c0005t0002g0020 a0001c0005t0002g0073 a0001c0005t0002g0074 a0001c0005t0002g0075 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 a0002c0002t0003g0152 a0002c0002t0003g0161 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0007g0166 a0002c0002t0010g0150 a0002c0002t0010g0151 a0002c0002t0010g0169 a0002c0002t0017g0158 a0002c0002t0017g0165 a0002c0002t0018g0155 a0002c0002t0033g0159 a0002c0002t0049g0157 a0002c0002t0053g0156 a0002c0002t0071g0164 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0002g0015 a0003c0003t0005g0005 a0003c0003t0022g0009 a0003c0003t0022g0013 a0003c0003t0023g0007 a0003c0003t0023g0008 a0003c0003t0042g0006 a0003c0003t0055g0012 a0004c0006t0054g0004 a0004c0006t0056g0014 a0005c0007t0064g0256 a0005c0007t0066g0254 a0007c0011t0002g0018 a0008c0010t0002g0036	217	262	0.8282	-24	c.171 others(43): Show c.1714+9043_1714+9066delAGGAGAGCATCAGTTGATAAAGTA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007568	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01071.hp2 others(18): Show HG00099.hp2 HG00733.hp1 HG01071.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01516.hp2 HG01934.hp1 HG01975.hp1 HG02602.hp2 HG02622.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG04204.hp2 NA18945.hp1 NA18992.hp1 NA19066.hp1 NA19240.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0004 a0004c0006 others(1): Show a0001c0001 a0001c0004 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0027 a0001c0001t0035 a0001c0001t0040 a0001c0004t0002 a0001c0004t0011 a0001c0004t0032 a0004c0006t0054 a0005c0007t0066	a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 others(18): Show a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0004g0102 a0001c0001t0006g0098 a0001c0001t0015g0181 a0001c0001t0027g0106 a0001c0001t0035g0261 a0001c0001t0040g0248 a0001c0004t0002g0142 a0001c0004t0002g0145 a0001c0004t0011g0148 a0001c0004t0032g0146 a0004c0006t0054g0004 a0005c0007t0066g0254	21	262	0.0802	-24	c.187 others(45): Show c.1870-20600_1870-20577delGTGTGTGTGTGTGTGTGTGTGTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007586	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03669.hp1 HG01071.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0197 a0001c0001t0001g0220	2	262	0.0076	-24	c.187 others(45): Show c.1870-20598_1870-20575delGTGTGTGTGTGTGTGTGTGTGTAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123007588	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp1 NA19043.hp2 others(1): Show HG01106.hp2 HG01123.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0003 a0001c0001t0009 a0002c0002t0003	a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0095 others(1): Show a0001c0001t0009g0093 a0001c0001t0009g0094 a0001c0001t0009g0095 a0002c0002t0003g0168	4	262	0.0153	-24	c.187 others(45): Show c.1870-20596_1870-20573delGTGTGTGTGTGTGTGTGTGTATAT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA5_chr4_122918078_123324433	123016098	CAGTAGGG others(17): Show CAGTAGGGGCGGCCGGGCAGAGGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(191): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19003.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0003c0003 a0004c0006 a0005c0007 a0007c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0004t0002 a0001c0004t0011 a0001c0004t0013 a0001c0004t0031 a0001c0004t0032 a0001c0004t0069 a0001c0005t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0022 a0003c0003t0023 a0003c0003t0042 a0003c0003t0055 a0004c0006t0054 a0004c0006t0056 a0005c0007t0064 a0005c0007t0066 a0007c0011t0002 a0008c0010t0002	a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(191): Show a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0255 a0001c0001t0003g0066 a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0003g0182 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0249 a0001c0001t0004g0102 a0001c0001t0004g0170 a0001c0001t0004g0196 a0001c0001t0004g0228 a0001c0001t0004g0239 a0001c0001t0005g0028 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0070 a0001c0001t0006g0003 a0001c0001t0006g0098 a0001c0001t0006g0240 a0001c0001t0007g0177 a0001c0001t0007g0198 a0001c0001t0007g0259 a0001c0001t0008g0017 a0001c0001t0011g0178 a0001c0001t0013g0071 a0001c0001t0015g0181 a0001c0001t0016g0044 a0001c0001t0016g0213 a0001c0001t0018g0184 a0001c0001t0019g0001 a0001c0001t0019g0002 a0001c0001t0020g0052 a0001c0001t0020g0210 a0001c0001t0021g0179 a0001c0001t0021g0180 a0001c0001t0024g0029 a0001c0001t0024g0048 a0001c0001t0025g0067 a0001c0001t0025g0069 a0001c0001t0027g0106 a0001c0001t0028g0025 a0001c0001t0037g0153 a0001c0001t0038g0154 a0001c0001t0040g0248 a0001c0001t0044g0236 a0001c0001t0045g0215 a0001c0001t0046g0183 a0001c0001t0047g0225 a0001c0001t0048g0030 a0001c0001t0050g0190 a0001c0001t0051g0174 a0001c0001t0058g0226 a0001c0001t0060g0081 a0001c0001t0061g0047 a0001c0001t0062g0237 a0001c0001t0063g0053 a0001c0001t0065g0063 a0001c0001t0068g0056 a0001c0001t0072g0045 a0001c0001t0073g0019 a0001c0001t0074g0076 a0001c0004t0002g0142 a0001c0004t0002g0145 a0001c0004t0011g0148 a0001c0004t0011g0149 a0001c0004t0013g0144 a0001c0004t0031g0147 a0001c0004t0032g0146 a0001c0004t0069g0143 a0001c0005t0002g0020 a0001c0005t0002g0073 a0001c0005t0002g0074 a0001c0005t0002g0075 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0002g0015 a0003c0003t0005g0005 a0003c0003t0022g0009 a0003c0003t0022g0013 a0003c0003t0023g0007 a0003c0003t0023g0008 a0003c0003t0042g0006 a0003c0003t0055g0012 a0004c0006t0054g0004 a0004c0006t0056g0014 a0005c0007t0064g0256 a0005c0007t0066g0254 a0007c0011t0002g0018 a0008c0010t0002g0036	194	262	0.7405	-24	c.187 others(45): Show c.1870-12087_1870-12064delAGTAGGGGCGGCCGGGCAGAGGCG	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15			chr4	TogoVar
SPATA5_chr4_122918078_123324433	123323088	TATATATA others(17): Show TATATATATACATATATATACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02040.hp2 HG01243.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0207 a0001c0001t0003g0182 a0001c0001t0001g0207 a0001c0001t0003g0182	2	262	0.0076	-24	c.90 others(35): Show c.9025_*9048delATATATATACATATATATACACAC	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding		3656		chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4650824	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0150 a0001c0004t0022g0150	1	408	0.0025	-24	c.226 others(41): Show c.226+5193_226+5216delCACACACACACACACACACACACA	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4656482	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19240.hp2 HG03471.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0025 a0001c0001t0015 a0001c0001t0025	a0001c0001t0015g0239 a0001c0001t0025g0200 a0001c0001t0015g0239 a0001c0001t0025g0200	2	408	0.0049	-24	c.178 others(39): Show c.178-417_178-394delCCCTTCCTTCCTTCCTTCCTTCCT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	2/11			chr9	TogoVar
SPATA6_chr1_48290373_48477204	48380866	TAAACACT others(17): Show TAAACACTATACAGCAGCAGTCCCC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	322	0.0031	-24	c.909 others(41): Show c.909+4419_909+4442delGGGGACTGCTGCTGTATAGTGTTT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48383886	CCCAGACG others(17): Show CCCAGACGATGGGTGGCCAAGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	322	0.0031	-24	c.909 others(41): Show c.909+1399_909+1422delTCTGCTTGGCCACCCATCGTCTGG	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384350	CAGGGAGA others(17): Show CAGGGAGAGGGAGAGGGAGAGGGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(19): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00642.hp2 HG01123.hp2 HG01168.hp2 HG01261.hp2 HG01517.hp2 HG02074.hp2 HG02602.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 NA18952.hp2 NA18964.hp1 NA18964.hp2 NA18990.hp2 NA18998.hp1 NA19062.hp1 NA19065.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0009 a0002c0002t0001 others(7): Show a0001c0001t0003 a0001c0001t0009 a0002c0002t0001 a0002c0002t0005 a0002c0002t0019 a0002c0002t0027 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0003c0003t0003	a0001c0001t0003g0107 a0001c0001t0003g0115 a0001c0001t0003g0135 others(19): Show a0001c0001t0003g0107 a0001c0001t0003g0115 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0009g0140 a0002c0002t0001g0016 a0002c0002t0001g0084 a0002c0002t0005g0066 a0002c0002t0005g0067 a0002c0002t0005g0068 a0002c0002t0005g0069 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0082 a0002c0002t0005g0090 a0002c0002t0019g0076 a0002c0002t0019g0080 a0002c0002t0027g0062 a0002c0002t0029g0061 a0002c0002t0030g0065 a0002c0002t0031g0075 a0003c0003t0003g0110	22	322	0.0683	-24	c.909 others(39): Show c.909+935_909+958delCTCCCTCTCCCTCTCCCTCTCCCT	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATS2L_chr2_200301693_200487264	200352311	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp1 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0096 a0001c0001t0012g0095 a0001c0001t0010g0096 a0001c0001t0012g0095	2	300	0.0067	-24	c.-23 others(43): Show c.-23+22833_-23+22856delTTATATATATATATATATATATAT	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2_chr12_49362462_49532425	49375141	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp2 HG02809.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0034 a0001c0001t0007g0035	2	158	0.0127	-24	c.-24 others(43): Show c.-244+3883_-244+3906delTGTGTGTGTGTGTGTGTGTGTGTG	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATS2_chr12_49362462_49532425	49403594	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	158	0.0063	-24	c.-24 others(45): Show c.-244+32328_-244+32351delCACACACACACACACACACACACA	SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPC25_chr2_168865891_168895430	168889011	GTATATAT others(17): Show GTATATATATACACATATATATACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(65): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01256.hp1 HG01261.hp1 HG01516.hp2 HG01517.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18943.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA19002.hp1 NA19006.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19064.hp1 NA19074.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0017 others(33): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0002g0071 a0001c0001t0003g0014 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0007g0076 a0001c0001t0007g0080	68	360	0.1889	-24	c.199 others(39): Show c.199+191_199+214delTGTATATATATGTGTATATATATA	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPDYA_chr2_28805834_28855610	28815283	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04199.hp2 HG03688.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0181 a0001c0001t0001g0182	2	338	0.0059	-24	c.-19 others(39): Show c.-19+618_-19+641delACACACACACACACACACACACAC	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819843	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA20805.hp1 HG01069.hp1 HG01071.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222	3	338	0.0089	-24	c.294 others(39): Show c.294+739_294+762delAAAAAATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819845	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01361.hp1 HG03688.hp1 others(4): Show HG01069.hp2 HG01361.hp1 HG03688.hp1 NA18953.hp2 NA18987.hp2 NA19010.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0209 others(4): Show a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0254	7	338	0.0207	-24	c.294 others(39): Show c.294+741_294+764delAAAATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819847	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01257.hp2 HG01515.hp2 others(3): Show HG00733.hp2 HG01257.hp2 HG01515.hp2 HG03130.hp2 HG03453.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0227 a0001c0001t0001g0243 others(3): Show a0001c0001t0001g0091 a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0274	6	338	0.0178	-24	c.294 others(39): Show c.294+743_294+766delAATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819849	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp2 HG01433.hp2 others(6): Show HG00323.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG02258.hp1 HG03579.hp1 HG03654.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0203 others(6): Show a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0263	9	338	0.0266	-24	c.294 others(39): Show c.294+774_294+797delATATATATATATATATATATATAT	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28823702	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	338	0.0030	-24	c.380 others(41): Show c.380+1312_380+1335delTATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73123765	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0129 a0001c0005t0013g0129	1	216	0.0046	-24	c.-63 others(43): Show c.-639-8247_-639-8224delGGGAGAGAGAGAGAGAGAGAGAGA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156132	ACACACAC others(17): Show ACACACACTCTCTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0096 a0001c0014t0001g0096	1	216	0.0046	-24	c.-14 others(35): Show c.-1473_-1450delAGAGAGAGAGAGAGAGAGTGTGTG	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding		702		chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67274831	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01256.hp2 HG01496.hp2 others(14): Show HG01123.hp2 HG01256.hp2 HG01496.hp2 HG01978.hp2 HG02055.hp2 HG02280.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0012 a0005c0005t0018 a0005c0005t0004 a0005c0005t0012 a0005c0005t0018	a0005c0005t0004g0009 a0005c0005t0004g0024 a0005c0005t0004g0056 others(5): Show a0005c0005t0004g0009 a0005c0005t0004g0024 a0005c0005t0004g0056 a0005c0005t0004g0122 a0005c0005t0004g0124 a0005c0005t0012g0024 a0005c0005t0012g0123 a0005c0005t0018g0009	17	460	0.0370	-24	c.-26 others(35): Show c.-2653_-2630delAAAAAAAAAAAAAAAAAAAAAAAA	SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding		2109		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270348	TATATGTA others(17): Show TATATGTATATACATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0035 a0001c0010t0035	a0001c0010t0035g0067 a0001c0010t0035g0067	1	326	0.0031	-24	c.-77 others(33): Show c.-776_-753delATATGTATATACATATATATATAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		482		chr22	TogoVar
SPECC1_chr17_20004359_20324026	20019207	CATTCATT others(17): Show CATTCATTTATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02622.hp2 HG03098.hp2 others(2): Show HG01358.hp1 HG02622.hp2 HG03098.hp2 HG03540.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0006 a0003c0004 a0001c0003 a0001c0006 a0003c0004	a0001c0003t0070 a0001c0003t0071 a0001c0003t0072 others(2): Show a0001c0003t0070 a0001c0003t0071 a0001c0003t0072 a0001c0006t0052 a0003c0004t0011	a0001c0003t0070g0053 a0001c0003t0071g0054 a0001c0003t0072g0042 others(2): Show a0001c0003t0070g0053 a0001c0003t0071g0054 a0001c0003t0072g0042 a0001c0006t0052g0014 a0003c0004t0011g0078	5	250	0.0200	-24	c.-22 others(41): Show c.-22+9787_-22+9810delCATTTATTTATTTATTTATTTATT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051068	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01258.hp1 HG01934.hp1 others(4): Show HG01106.hp2 HG01258.hp1 HG01934.hp1 HG02129.hp2 HG02895.hp1 NA19043.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0003c0012 a0001c0001 a0003c0007 a0003c0012	a0001c0001t0002 a0001c0001t0006 a0001c0001t0073 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0073 a0001c0001t0077 a0003c0007t0003 a0003c0012t0108 a0003c0012t0111	a0001c0001t0002g0168 a0001c0001t0006g0126 a0001c0001t0073g0122 others(4): Show a0001c0001t0002g0168 a0001c0001t0006g0126 a0001c0001t0073g0122 a0001c0001t0077g0170 a0003c0007t0003g0076 a0003c0012t0108g0100 a0003c0012t0111g0098	7	250	0.0280	-24	c.-22 others(43): Show c.-22+41693_-22+41716delTTTCTTTCTTTCTTTCTTTCTTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20051117	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG02280.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0097 a0001c0001t0086 a0001c0001t0097	a0001c0001t0086g0159 a0001c0001t0097g0149 a0001c0001t0086g0159 a0001c0001t0097g0149	2	250	0.0080	-24	c.-22 others(43): Show c.-22+41701_-22+41724delTTTCTTTCTTTCTTTCCTTCTTTC	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20276501	ATTCCTCT others(17): Show ATTCCTCTAACAGGGCAGCTTAGCC	A A	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0151 a0001c0001t0010g0151	1	250	0.0040	-24	c.294 others(45): Show c.2940+16209_2940+16232delTCCTCTAACAGGGCAGCTTAGCCT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35661254	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02451.hp2 HG02615.hp1 others(17): Show HG01099.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02976.hp2 HG03209.hp2 HG03516.hp2 HG03579.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19240.hp1 NA20300.hp2	a0004 a0006 a0007 others(4): Show a0004 a0006 a0007 a0010 a0016 a0025 a0032	a0004c0012 a0006c0008 a0007c0011 others(6): Show a0004c0012 a0006c0008 a0007c0011 a0007c0044 a0010c0015 a0010c0024 a0016c0018 a0025c0054 a0032c0036	a0004c0012t0001 a0006c0008t0001 a0007c0011t0001 others(6): Show a0004c0012t0001 a0006c0008t0001 a0007c0011t0001 a0007c0044t0001 a0010c0015t0001 a0010c0024t0001 a0016c0018t0001 a0025c0054t0001 a0032c0036t0001	a0004c0012t0001g0145 a0006c0008t0001g0025 a0006c0008t0001g0039 others(17): Show a0004c0012t0001g0145 a0006c0008t0001g0025 a0006c0008t0001g0039 a0006c0008t0001g0040 a0006c0008t0001g0072 a0006c0008t0001g0090 a0006c0008t0001g0126 a0007c0011t0001g0142 a0007c0011t0001g0143 a0007c0011t0001g0144 a0007c0011t0001g0147 a0007c0044t0001g0146 a0010c0015t0001g0068 a0010c0015t0001g0138 a0010c0015t0001g0140 a0010c0024t0001g0139 a0016c0018t0001g0151 a0016c0018t0001g0152 a0025c0054t0001g0185 a0032c0036t0001g0155	20	268	0.0746	-24	c.116 others(43): Show c.1167+2069_1167+2092delATATATATATATATATATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35661276	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG01891.hp2 HG02976.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0001 a0017c0019t0001	a0017c0019t0001g0015 a0017c0019t0001g0105 a0017c0019t0001g0015 a0017c0019t0001g0105	2	268	0.0075	-24	c.116 others(43): Show c.1167+2070_1167+2093delTATATATATATATATATATATATT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	8/36			chr5	TogoVar
SPEG_chr2_219429843_219498629	219431548	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(250): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(35): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0015 a0016 a0019 a0020 a0021 a0022 a0024 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0036 a0037 a0038 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0049 a0050	a0001c0001 a0001c0002 a0001c0019 others(61): Show a0001c0001 a0001c0002 a0001c0019 a0001c0037 a0001c0039 a0001c0057 a0001c0066 a0001c0076 a0002c0003 a0002c0004 a0002c0008 a0002c0045 a0002c0048 a0002c0064 a0002c0068 a0002c0074 a0002c0085 a0003c0005 a0003c0011 a0003c0038 a0003c0075 a0004c0009 a0004c0012 a0004c0016 a0004c0080 a0005c0006 a0005c0081 a0006c0007 a0006c0053 a0006c0058 a0007c0013 a0007c0020 a0008c0014 a0010c0051 a0010c0052 a0011c0036 a0012c0018 a0013c0021 a0015c0024 a0016c0026 a0019c0032 a0020c0050 a0021c0034 a0022c0033 a0024c0047 a0028c0063 a0029c0044 a0030c0031 a0031c0030 a0032c0042 a0033c0062 a0034c0056 a0036c0059 a0037c0040 a0038c0043 a0040c0046 a0041c0073 a0042c0049 a0043c0029 a0044c0079 a0045c0084 a0046c0083 a0049c0023 a0050c0086	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(69): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0019t0001 a0001c0037t0001 a0001c0039t0001 a0001c0057t0002 a0001c0066t0001 a0001c0076t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0008t0002 a0002c0045t0002 a0002c0048t0004 a0002c0064t0002 a0002c0068t0002 a0002c0074t0002 a0002c0085t0002 a0003c0005t0001 a0003c0011t0001 a0003c0038t0001 a0003c0075t0001 a0004c0009t0002 a0004c0012t0002 a0004c0016t0002 a0004c0080t0002 a0005c0006t0001 a0005c0006t0002 a0005c0081t0002 a0006c0007t0002 a0006c0053t0002 a0006c0058t0002 a0007c0013t0005 a0007c0020t0002 a0008c0014t0003 a0010c0051t0002 a0010c0052t0002 a0011c0036t0003 a0012c0018t0001 a0013c0021t0002 a0015c0024t0001 a0016c0026t0002 a0019c0032t0001 a0020c0050t0002 a0021c0034t0001 a0022c0033t0002 a0024c0047t0001 a0028c0063t0009 a0029c0044t0002 a0030c0031t0003 a0031c0030t0002 a0032c0042t0001 a0033c0062t0001 a0034c0056t0001 a0036c0059t0001 a0037c0040t0001 a0038c0043t0001 a0040c0046t0001 a0041c0073t0001 a0042c0049t0002 a0043c0029t0002 a0044c0079t0002 a0045c0084t0001 a0046c0083t0005 a0049c0023t0001 a0050c0086t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(235): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0260 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0007g0123 a0001c0001t0008g0164 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0113 a0001c0002t0001g0129 a0001c0002t0001g0135 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0242 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0257 a0001c0002t0001g0263 a0001c0002t0001g0269 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0002g0201 a0001c0002t0010g0127 a0001c0019t0001g0224 a0001c0019t0001g0225 a0001c0037t0001g0143 a0001c0039t0001g0141 a0001c0057t0002g0069 a0001c0066t0001g0089 a0001c0076t0001g0103 a0002c0003t0002g0005 a0002c0003t0002g0014 a0002c0003t0002g0028 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0077 a0002c0003t0002g0081 a0002c0003t0002g0085 a0002c0003t0002g0097 a0002c0003t0002g0101 a0002c0003t0002g0121 a0002c0003t0002g0134 a0002c0003t0002g0194 a0002c0003t0002g0206 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0243 a0002c0003t0002g0248 a0002c0003t0002g0251 a0002c0003t0002g0255 a0002c0003t0002g0258 a0002c0003t0002g0261 a0002c0003t0002g0262 a0002c0003t0002g0264 a0002c0003t0002g0266 a0002c0003t0002g0267 a0002c0003t0002g0273 a0002c0003t0002g0275 a0002c0003t0005g0099 a0002c0004t0001g0009 a0002c0004t0001g0016 a0002c0004t0002g0009 a0002c0004t0002g0029 a0002c0004t0002g0046 a0002c0004t0002g0048 a0002c0004t0002g0052 a0002c0004t0002g0055 a0002c0004t0002g0102 a0002c0004t0002g0137 a0002c0004t0002g0145 a0002c0004t0002g0149 a0002c0004t0002g0161 a0002c0004t0002g0162 a0002c0004t0002g0171 a0002c0004t0002g0185 a0002c0004t0002g0189 a0002c0004t0002g0190 a0002c0004t0002g0270 a0002c0004t0004g0024 a0002c0004t0004g0159 a0002c0004t0004g0160 a0002c0008t0002g0100 a0002c0008t0002g0105 a0002c0008t0002g0107 a0002c0008t0002g0212 a0002c0045t0002g0049 a0002c0048t0004g0139 a0002c0064t0002g0082 a0002c0068t0002g0068 a0002c0074t0002g0211 a0002c0085t0002g0170 a0003c0005t0001g0070 a0003c0005t0001g0075 a0003c0005t0001g0076 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0083 a0003c0005t0001g0086 a0003c0005t0001g0087 a0003c0005t0001g0088 a0003c0005t0001g0091 a0003c0005t0001g0092 a0003c0005t0001g0187 a0003c0005t0001g0237 a0003c0005t0001g0244 a0003c0005t0001g0256 a0003c0011t0001g0057 a0003c0011t0001g0124 a0003c0011t0001g0130 a0003c0011t0001g0157 a0003c0038t0001g0172 a0003c0075t0001g0094 a0004c0009t0002g0061 a0004c0009t0002g0062 a0004c0009t0002g0063 a0004c0009t0002g0227 a0004c0009t0002g0228 a0004c0009t0002g0229 a0004c0012t0002g0233 a0004c0012t0002g0234 a0004c0012t0002g0235 a0004c0012t0002g0236 a0004c0016t0002g0165 a0004c0016t0002g0181 a0004c0080t0002g0036 a0005c0006t0001g0114 a0005c0006t0002g0003 a0005c0006t0002g0006 a0005c0006t0002g0110 a0005c0006t0002g0112 a0005c0006t0002g0116 a0005c0006t0002g0118 a0005c0006t0002g0119 a0005c0006t0002g0259 a0005c0081t0002g0115 a0006c0007t0002g0040 a0006c0007t0002g0047 a0006c0007t0002g0050 a0006c0007t0002g0059 a0006c0007t0002g0140 a0006c0007t0002g0169 a0006c0007t0002g0176 a0006c0007t0002g0178 a0006c0007t0002g0191 a0006c0053t0002g0133 a0006c0058t0002g0285 a0007c0013t0005g0074 a0007c0013t0005g0200 a0007c0020t0002g0278 a0007c0020t0002g0279 a0008c0014t0003g0220 a0010c0051t0002g0271 a0010c0052t0002g0093 a0011c0036t0003g0138 a0012c0018t0001g0008 a0013c0021t0002g0090 a0015c0024t0001g0268 a0016c0026t0002g0034 a0019c0032t0001g0020 a0020c0050t0002g0098 a0021c0034t0001g0026 a0022c0033t0002g0025 a0024c0047t0001g0017 a0028c0063t0009g0128 a0029c0044t0002g0035 a0030c0031t0003g0216 a0031c0030t0002g0218 a0032c0042t0001g0019 a0033c0062t0001g0252 a0034c0056t0001g0067 a0036c0059t0001g0245 a0037c0040t0001g0037 a0038c0043t0001g0182 a0040c0046t0001g0041 a0041c0073t0001g0071 a0042c0049t0002g0230 a0043c0029t0002g0136 a0044c0079t0002g0276 a0045c0084t0001g0022 a0046c0083t0005g0111 a0049c0023t0001g0226 a0050c0086t0001g0168	253	304	0.8322	-24	c.-34 others(35): Show c.-3429_-3406delTTCCTTCCTTCCTTCCTTCCTTCC	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding		3294		chr2	TogoVar
SPEG_chr2_219429843_219498629	219465928	CGTGTGCG others(17): Show CGTGTGCGTGCACGTGTGCGTGCAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG02622.hp1 HG02818.hp1	a0021 a0022 a0021 a0022	a0021c0034 a0022c0033 a0021c0034 a0022c0033	a0021c0034t0001 a0022c0033t0002 a0021c0034t0001 a0022c0033t0002	a0021c0034t0001g0026 a0022c0033t0002g0025 a0021c0034t0001g0026 a0022c0033t0002g0025	2	304	0.0066	-24	c.288 others(43): Show c.2882-1236_2882-1213delCACGTGTGCGTGCATGTGTGCGTG	SPEG	ENSG00000072195.15	transcript	ENST00000312358.12	protein_coding	9/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPEM1_chr17_7415324_7426632	7424547	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00544.hp2 others(61): Show HG00280.hp1 HG00423.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02698.hp2 HG02723.hp2 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03453.hp1 HG03579.hp2 HG03927.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA19001.hp2 NA19005.hp2 NA19010.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19067.hp2 NA19074.hp2 NA19077.hp2 NA19082.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0002 a0001c0001 a0001c0011 a0002c0002	a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 a0001c0001t0001 a0001c0011t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0011t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0011t0001g0001 a0002c0002t0001g0001	64	398	0.1608	-24	c.29 others(35): Show c.2943_*2966delTTCCTTCCTTCCTTCCTTCCTTCC	SPEM1	ENSG00000181323.8	transcript	ENST00000323675.4	protein_coding		2916		chr17	TogoVar
SPEM2_chr17_7420616_7432568	7424547	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00642.hp1 others(55): Show HG00280.hp1 HG00423.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02698.hp2 HG02723.hp2 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03453.hp1 HG03579.hp1 HG03927.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18957.hp1 NA18963.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA19005.hp1 NA19010.hp1 NA19057.hp1 NA19058.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0012 a0001c0001 a0002c0002 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0009c0012t0001	a0001c0001t0001g0001 a0001c0001t0002g0001 a0002c0002t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0002c0002t0001g0001 a0009c0012t0001g0001	58	364	0.1593	-24	c.-11 others(35): Show c.-1141_-1118delTTCCTTCCTTCCTTCCTTCCTTCC	SPEM2	ENSG00000184560.8	transcript	ENST00000333870.8	protein_coding		1068		chr17	TogoVar
SPEM3_chr17_7423857_7437820	7424547	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00642.hp1 others(56): Show HG00280.hp2 HG00423.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02698.hp1 HG02723.hp2 HG02970.hp1 HG03130.hp1 HG03453.hp1 HG03579.hp2 HG03927.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18957.hp2 NA18963.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA19005.hp1 NA19010.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19074.hp2 NA19077.hp2 NA19082.hp1 NA19082.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0009 a0016	a0001c0001 a0002c0002 a0002c0009 others(7): Show a0001c0001 a0002c0002 a0002c0009 a0002c0013 a0002c0018 a0003c0024 a0005c0005 a0008c0011 a0009c0010 a0016c0019	a0001c0001t0001 a0002c0002t0001 a0002c0009t0001 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0009t0001 a0002c0013t0001 a0002c0018t0001 a0003c0024t0001 a0005c0005t0001 a0008c0011t0001 a0009c0010t0001 a0016c0019t0001	a0001c0001t0001g0001 a0002c0002t0001g0001 a0002c0009t0001g0001 others(7): Show a0001c0001t0001g0001 a0002c0002t0001g0001 a0002c0009t0001g0001 a0002c0013t0001g0001 a0002c0018t0001g0001 a0003c0024t0001g0001 a0005c0005t0001g0001 a0008c0011t0001g0001 a0009c0010t0001g0001 a0016c0019t0001g0001	59	354	0.1667	-24	c.-43 others(35): Show c.-4355_-4332delTTCCTTCCTTCCTTCCTTCCTTCC	SPEM3	ENSG00000283439.4	transcript	ENST00000636696.4	protein_coding		4309		chr17	TogoVar
SPG11_chr15_44557696_44668662	44636934	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01496.hp1 HG02040.hp1 others(18): Show HG00621.hp1 HG01496.hp1 HG02040.hp1 HG02155.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02922.hp1 HG03017.hp1 HG03453.hp2 HG03516.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18986.hp1 NA18990.hp1 NA19004.hp2 NA19063.hp2	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0024	a0002c0002 a0004c0004 a0005c0005 others(1): Show a0002c0002 a0004c0004 a0005c0005 a0024c0025	a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 others(1): Show a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 a0024c0025t0001	a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0026 others(18): Show a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0026 a0004c0004t0001g0149 a0004c0004t0001g0158 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0166 a0004c0004t0001g0167 a0004c0004t0001g0168 a0004c0004t0001g0169 a0004c0004t0001g0171 a0004c0004t0001g0182 a0004c0004t0001g0183 a0005c0005t0001g0031 a0005c0005t0001g0032 a0005c0005t0001g0033 a0005c0005t0001g0034 a0005c0005t0001g0146 a0005c0005t0001g0147 a0024c0025t0001g0172	21	190	0.1105	-24	c.160 others(43): Show c.1603-3321_1603-3298delGTTTTTTTTTTTTTTTTTTTTTTT	SPG11	ENSG00000104133.16	transcript	ENST00000261866.12	protein_coding	7/39			chr15	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	ATCTCTCT others(17): Show ATCTCTCTCTCTCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02895.hp2 others(4): Show HG02572.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03540.hp1 HG03540.hp2	a0003 a0005 a0003 a0005	a0003c0005 a0003c0006 a0005c0003 a0003c0005 a0003c0006 a0005c0003	a0003c0005t0005 a0003c0006t0001 a0005c0003t0001 a0003c0005t0005 a0003c0006t0001 a0005c0003t0001	a0003c0005t0005g0086 a0003c0005t0005g0087 a0003c0006t0001g0097 others(4): Show a0003c0005t0005g0086 a0003c0005t0005g0087 a0003c0006t0001g0097 a0005c0003t0001g0265 a0005c0003t0001g0289 a0005c0003t0001g0290 a0005c0003t0001g0293	7	322	0.0217	-24	c.139 others(41): Show c.139-4688_139-4665delGAGAGAGAGAGAGAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPIDR_chr8_47255938_47741306	47331964	ACTTTTTT others(17): Show ACTTTTTTTTTTTTTTTTTTTTTCT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG01109.hp1 others(43): Show HG00323.hp1 HG00408.hp2 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01978.hp2 HG02083.hp1 HG02129.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG02897.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18947.hp1 NA18966.hp1 NA18971.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19079.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0010	a0001c0001 a0005c0005 a0009c0009 others(1): Show a0001c0001 a0005c0005 a0009c0009 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0005c0005t0001 a0009c0009t0001 a0010c0007t0001	a0001c0001t0001g0127 a0001c0001t0001g0164 a0001c0001t0001g0165 others(43): Show a0001c0001t0001g0127 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0209 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0210 a0005c0005t0001g0167 a0005c0005t0001g0192 a0009c0009t0001g0173 a0010c0007t0001g0200	46	216	0.2130	-24	c.525 others(43): Show c.525+37957_525+37980delCTCTTTTTTTTTTTTTTTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47545071	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	216	0.0046	-24	c.109 others(45): Show c.1098-50712_1098-50689delCTTTCTTTCTTTCTTTCTTTCTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47702085	TCTCTCTC others(17): Show TCTCTCTCTCTCTTACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	216	0.0046	-24	c.197 others(39): Show c.1977+72_1977+95delTCTCTCTCTCTTACACACACACAC	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88405997	TTGTGTGT others(17): Show TTGTGTGTCTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18612.hp1 NA18950.hp1 others(2): Show HG02083.hp1 NA18612.hp1 NA18950.hp1 NA18955.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0023 others(2): Show a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0028	5	176	0.0284	-24	c.-15 others(45): Show c.-159+17467_-159+17490delCTGTGTGTGTGTGTGTGTGTGTGT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88434330	CAAATTAT others(17): Show CAAATTATAAAATAGTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00733.hp2 others(44): Show HG00099.hp2 HG00639.hp1 HG00733.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01993.hp1 HG01993.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02735.hp1 HG02896.hp2 HG03471.hp2 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18969.hp2 NA18978.hp1 NA18998.hp2 NA19003.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19079.hp1 NA19079.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(44): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0106 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0069 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0071 a0001c0001t0005g0011 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0027 a0001c0001t0012g0049	47	176	0.2671	-24	c.52+ others(39): Show c.52+7793_52+7816delATAAAATAGTTTATTTTATAAATT	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK5_chr5_148058980_148142382	148073814	TCACACAC others(17): Show TCACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02559.hp2 HG01106.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0244 a0001c0001t0001g0245	2	384	0.0052	-24	c.282 others(41): Show c.282+1619_282+1642delCACACACACACACACACACACACA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148198474	TATACTTA others(17): Show TATACTTATTAATGACATAGAAGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(246): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0046 a0002c0002t0001g0057 a0002c0002t0001g0124 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0002g0029 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0003c0003t0001g0125	249	438	0.5685	-24	c.-46 others(35): Show c.-4622_-4599delATACTTATTAATGACATAGAAGAC	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding		4567		chr5	TogoVar
SPNS2_chr17_4493881_4544035	4542742	CTAGGCCA others(17): Show CTAGGCCAGGGGAGAGCGAGCTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0118 a0001c0001t0012g0118	1	404	0.0025	-24	c.52 others(35): Show c.5295_*5318delTAGGCCAGGGGAGAGCGAGCTGGG	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3708		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4436478	GGAGGCTG others(17): Show GGAGGCTGAAGCAGGAGGATTGCTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02922.hp1 NA21309.hp2 HG01106.hp1 HG02922.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0031 a0003c0005 a0001c0006 a0001c0031 a0003c0005	a0001c0006t0001 a0001c0031t0005 a0003c0005t0002 a0001c0006t0001 a0001c0031t0005 a0003c0005t0002	a0001c0006t0001g0035 a0001c0031t0005g0036 a0003c0005t0002g0157 a0001c0006t0001g0035 a0001c0031t0005g0036 a0003c0005t0002g0157	3	362	0.0083	-24	c.199 others(41): Show c.199+2348_199+2371delAGGAGGATTGCTTGAGGCTGAAGC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4436514	AGGAGGAT others(17): Show AGGAGGATTGCTTGAGGCTGAAGCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01069.hp2 others(15): Show HG00280.hp2 HG00738.hp2 HG01069.hp2 HG01516.hp2 HG02145.hp2 HG02148.hp2 HG02647.hp1 HG02738.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0007 others(7): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0035 a0002c0032 a0002c0033 a0003c0016 a0003c0029	a0001c0001t0001 a0001c0006t0002 a0001c0007t0003 others(9): Show a0001c0001t0001 a0001c0006t0002 a0001c0007t0003 a0001c0009t0002 a0001c0010t0001 a0001c0010t0002 a0001c0035t0002 a0002c0032t0001 a0002c0033t0003 a0003c0016t0001 a0003c0016t0002 a0003c0029t0003	a0001c0001t0001g0111 a0001c0006t0002g0089 a0001c0007t0003g0250 others(15): Show a0001c0001t0001g0111 a0001c0006t0002g0089 a0001c0007t0003g0250 a0001c0007t0003g0251 a0001c0009t0002g0028 a0001c0010t0001g0080 a0001c0010t0001g0084 a0001c0010t0002g0081 a0001c0010t0002g0086 a0001c0010t0002g0087 a0001c0010t0002g0088 a0001c0010t0002g0090 a0001c0035t0002g0043 a0002c0032t0001g0079 a0002c0033t0003g0091 a0003c0016t0001g0083 a0003c0016t0002g0082 a0003c0029t0003g0085	18	362	0.0497	-24	c.199 others(41): Show c.199+2368_199+2391delAAGCGGGAGGATTGCTTGAGGCTG	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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