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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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
SPAST_chr2_32058556_32162637	32083770	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0079 a0001c0001t0018g0079	1	342	0.0029	23	c.416 others(40): Show c.416-3721_416-3720insTTTTTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATATTTTT others(16): Show ATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	342	0.0029	23	c.416 others(40): Show c.416-3715_416-3714insATTTTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAST_chr2_32058556_32162637	32083776	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	342	0.0029	23	c.416 others(40): Show c.416-3701_416-3700insTTTTTTTTTTTTTTTTTTTTTTT	SPAST	ENSG00000021574.14	transcript	ENST00000315285.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189730	A A	ATTATATA others(16): Show ATTATATATAAAAGTATATATAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00673.hp2 others(19): Show HG00280.hp2 HG00423.hp1 HG00673.hp2 HG01074.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG02486.hp1 HG03669.hp1 HG03942.hp2 HG04204.hp2 NA18945.hp1 NA18951.hp2 NA18959.hp2 NA19009.hp2 NA19010.hp1 NA19066.hp1 NA19070.hp1 NA19081.hp2 NA19090.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0013 a0004c0012 a0004c0014	a0001c0001t0005 a0001c0001t0011 a0001c0001t0024 others(19): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0024 a0001c0001t0028 a0001c0001t0065 a0001c0002t0001 a0001c0003t0004 a0001c0003t0011 a0001c0003t0034 a0001c0003t0062 a0001c0004t0009 a0001c0004t0080 a0001c0005t0019 a0001c0006t0001 a0001c0006t0007 a0001c0006t0009 a0001c0006t0012 a0001c0006t0013 a0001c0006t0038 a0001c0013t0018 a0004c0012t0008 a0004c0014t0047	a0001c0001t0005g0177 a0001c0001t0011g0269 a0001c0001t0024g0040 others(19): Show a0001c0001t0005g0177 a0001c0001t0011g0269 a0001c0001t0024g0040 a0001c0001t0028g0219 a0001c0001t0065g0109 a0001c0002t0001g0126 a0001c0003t0004g0163 a0001c0003t0011g0185 a0001c0003t0034g0036 a0001c0003t0062g0258 a0001c0004t0009g0264 a0001c0004t0080g0179 a0001c0005t0019g0041 a0001c0006t0001g0146 a0001c0006t0007g0145 a0001c0006t0009g0312 a0001c0006t0012g0279 a0001c0006t0013g0212 a0001c0006t0038g0187 a0001c0013t0018g0355 a0004c0012t0008g0151 a0004c0014t0047g0235	22	356	0.0618	23	c.-11 others(44): Show c.-112+28798_-112+28799insTTATATATAAAAGTATATATAAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190347	A A	ATTATTTT others(16): Show ATTATTTTATATAACATATGATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19054.hp1 NA19060.hp2 NA18947.hp1 NA19054.hp1 NA19060.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0017 a0001c0005t0046 a0001c0006t0010 a0001c0005t0017 a0001c0005t0046 a0001c0006t0010	a0001c0005t0017g0277 a0001c0005t0046g0317 a0001c0006t0010g0318 a0001c0005t0017g0277 a0001c0005t0046g0317 a0001c0006t0010g0318	3	356	0.0084	23	c.-11 others(44): Show c.-112+29415_-112+29416insTTATTTTATATAACATATGATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATA22_chr17_3435019_3476819	3458855	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03704.hp2 HG02970.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0136 a0001c0001t0001g0068 a0001c0001t0001g0136	2	420	0.0048	23	c.329 others(40): Show c.329+3605_329+3627dupTTTTTTTTTTTTTTTTTTTTTTT	SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	5/8			chr17	TogoVar
SPATA31A6_chr9_42178659_42194887	42184503	G G	GTGTTATT others(16): Show GTGTTATTTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0034 a0034	a0034c0043 a0034c0043	a0034c0043t0010 a0034c0043t0010	a0034c0043t0010g0031 a0034c0043t0010g0031	1	182	0.0055	23	c.190 others(38): Show c.190-565_190-564insGTTATTTTTATTTTATTTTATTT	SPATA31A6	ENSG00000185775.10	transcript	ENST00000332857.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31D4_chr9_81923428_81939998	81930201	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02004.hp1 HG02155.hp2 others(14): Show HG01358.hp1 HG02004.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG02735.hp2 HG03130.hp1 HG03209.hp1 HG03491.hp2 HG03654.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18983.hp1 NA18998.hp2 NA19062.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0010 a0020	a0001c0001 a0002c0002 a0005c0006 others(3): Show a0001c0001 a0002c0002 a0005c0006 a0007c0007 a0010c0011 a0020c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0002c0002t0001 a0005c0006t0007 a0007c0007t0016 a0010c0011t0001 a0020c0039t0018	a0001c0001t0001g0007 a0001c0001t0002g0007 a0001c0001t0005g0070 others(6): Show a0001c0001t0001g0007 a0001c0001t0002g0007 a0001c0001t0005g0070 a0001c0001t0018g0072 a0002c0002t0001g0007 a0005c0006t0007g0061 a0007c0007t0016g0007 a0010c0011t0001g0007 a0020c0039t0018g0007	17	360	0.0472	23	c.293 others(36): Show c.293+43_293+65dupTTTTTTTTTTTTTTTTTTTTTTT	SPATA31D4	ENSG00000189357.9	transcript	ENST00000419782.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPATA31F3_chr9_34884066_34900764	34890436	A A	AAAGTACC others(16): Show AAAGTACCTGGGCCTCTGTCATGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	434	0.0023	23	c.359 others(38): Show c.359-827_359-805dupACATGACAGAGGCCCAGGTACTT	SPATA31F3	ENSG00000187791.13	transcript	ENST00000340783.11	protein_coding	4/4			chr9	TogoVar
SPATA5_chr4_122918078_123324433	122992982	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG02965.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0035 a0001c0001t0034 a0001c0001t0035	a0001c0001t0034g0262 a0001c0001t0035g0261 a0001c0001t0034g0262 a0001c0001t0035g0261	2	262	0.0076	23	c.186 others(44): Show c.1869+13607_1869+13608insGGTGTGTGTGTATGTGTGTGTGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6L_chr9_4593316_4671480	4648714	T T	TAAATAAA others(16): Show TAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00673.hp2 others(43): Show HG00099.hp2 HG00408.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp2 HG01261.hp1 HG01496.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp2 HG02027.hp2 HG02129.hp1 HG02145.hp1 HG02723.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp2 HG03669.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18978.hp1 NA18991.hp1 NA18992.hp1 NA19005.hp1 NA19030.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19085.hp1 NA19087.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0010 a0012	a0001c0001 a0001c0004 a0001c0006 others(6): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0002c0005 a0003c0003 a0005c0009 a0010c0017 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0045 a0001c0004t0008 a0001c0006t0028 a0002c0002t0004 a0002c0002t0007 a0002c0005t0005 a0003c0003t0005 a0005c0009t0033 a0010c0017t0052 a0012c0015t0002	a0001c0001t0001g0066 a0001c0001t0001g0148 a0001c0001t0001g0235 others(43): Show a0001c0001t0001g0066 a0001c0001t0001g0148 a0001c0001t0001g0235 a0001c0001t0001g0319 a0001c0001t0002g0069 a0001c0001t0002g0086 a0001c0001t0002g0227 a0001c0001t0002g0329 a0001c0001t0004g0103 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0008g0108 a0001c0001t0008g0112 a0001c0001t0008g0113 a0001c0001t0008g0315 a0001c0001t0011g0089 a0001c0001t0019g0172 a0001c0001t0020g0058 a0001c0001t0045g0021 a0001c0004t0008g0114 a0001c0006t0028g0174 a0002c0002t0004g0101 a0002c0002t0004g0102 a0002c0002t0004g0105 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0007g0388 a0002c0002t0007g0389 a0002c0002t0007g0390 a0002c0005t0005g0093 a0003c0003t0005g0067 a0003c0003t0005g0068 a0003c0003t0005g0070 a0003c0003t0005g0125 a0003c0003t0005g0131 a0003c0003t0005g0134 a0003c0003t0005g0159 a0003c0003t0005g0171 a0003c0003t0005g0180 a0003c0003t0005g0322 a0005c0009t0033g0175 a0010c0017t0052g0185 a0012c0015t0002g0065	46	408	0.1128	23	c.226 others(40): Show c.226+7326_226+7327insTTTATTTATTTATTTATTTATTT	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	3/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4661749	T T	TCCAACTG others(16): Show TCCAACTGCGGTTTTGCTTCAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01070.hp1 others(25): Show HG00099.hp2 HG00733.hp1 HG01070.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01952.hp2 HG02071.hp1 HG02080.hp2 HG02135.hp1 HG02602.hp1 HG03017.hp1 HG03239.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18942.hp2 NA18961.hp1 NA19009.hp2 NA19060.hp1 NA19079.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0001t0044 a0001c0004t0008 a0002c0002t0003 a0002c0002t0004 a0003c0003t0005	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(24): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0214 a0001c0001t0002g0011 a0001c0001t0002g0043 a0001c0001t0002g0069 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0335 a0001c0001t0004g0046 a0001c0001t0006g0049 a0001c0001t0016g0396 a0001c0001t0044g0045 a0001c0004t0008g0048 a0002c0002t0003g0004 a0002c0002t0004g0328 a0003c0003t0005g0042 a0003c0003t0005g0068 a0003c0003t0005g0070	28	408	0.0686	23	c.177 others(38): Show c.177+149_177+150insCCTTGAAGCAAAACCGCAGTTGG	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	2/11			chr9	TogoVar
SPATA6L_chr9_4593316_4671480	4661749	T T	TCCGACTG others(16): Show TCCGACTGCGGTTTTGCTTCAAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(167): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0011 a0012 a0013 a0015	a0001c0001 a0001c0004 a0001c0006 others(12): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013 a0002c0002 a0002c0005 a0003c0003 a0004c0007 a0005c0009 a0006c0019 a0009c0012 a0011c0014 a0012c0015 a0013c0016 a0015c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0049 a0001c0001t0055 a0001c0001t0059 a0001c0001t0062 a0001c0004t0022 a0001c0006t0010 a0001c0006t0028 a0001c0006t0032 a0001c0013t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0017 a0002c0002t0056 a0002c0002t0057 a0002c0002t0060 a0002c0005t0010 a0002c0005t0031 a0003c0003t0005 a0004c0007t0001 a0005c0009t0033 a0006c0019t0042 a0009c0012t0005 a0011c0014t0015 a0012c0015t0002 a0013c0016t0020 a0015c0010t0002	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(165): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0173 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0319 a0001c0001t0001g0326 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0063 a0001c0001t0002g0177 a0001c0001t0002g0194 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0227 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0325 a0001c0001t0003g0208 a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0006g0026 a0001c0001t0006g0130 a0001c0001t0006g0211 a0001c0001t0006g0243 a0001c0001t0008g0060 a0001c0001t0010g0124 a0001c0001t0010g0142 a0001c0001t0011g0220 a0001c0001t0011g0247 a0001c0001t0012g0079 a0001c0001t0012g0118 a0001c0001t0012g0119 a0001c0001t0012g0120 a0001c0001t0012g0145 a0001c0001t0012g0149 a0001c0001t0012g0224 a0001c0001t0013g0121 a0001c0001t0015g0189 a0001c0001t0015g0190 a0001c0001t0015g0236 a0001c0001t0015g0239 a0001c0001t0016g0375 a0001c0001t0016g0387 a0001c0001t0016g0392 a0001c0001t0016g0394 a0001c0001t0016g0402 a0001c0001t0017g0391 a0001c0001t0017g0403 a0001c0001t0018g0336 a0001c0001t0019g0080 a0001c0001t0019g0151 a0001c0001t0019g0179 a0001c0001t0020g0058 a0001c0001t0020g0204 a0001c0001t0020g0245 a0001c0001t0023g0176 a0001c0001t0026g0349 a0001c0001t0026g0398 a0001c0001t0027g0143 a0001c0001t0029g0324 a0001c0001t0030g0343 a0001c0001t0030g0344 a0001c0001t0035g0400 a0001c0001t0037g0122 a0001c0001t0038g0147 a0001c0001t0049g0246 a0001c0001t0055g0154 a0001c0001t0059g0397 a0001c0001t0062g0384 a0001c0004t0022g0156 a0001c0006t0010g0240 a0001c0006t0028g0174 a0001c0006t0032g0153 a0001c0013t0010g0085 a0002c0002t0001g0030 a0002c0002t0001g0117 a0002c0002t0001g0207 a0002c0002t0002g0062 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0029 a0002c0002t0003g0195 a0002c0002t0003g0201 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0216 a0002c0002t0003g0320 a0002c0002t0003g0321 a0002c0002t0004g0205 a0002c0002t0004g0221 a0002c0002t0004g0223 a0002c0002t0004g0317 a0002c0002t0005g0027 a0002c0002t0007g0368 a0002c0002t0007g0374 a0002c0002t0007g0376 a0002c0002t0007g0380 a0002c0002t0007g0381 a0002c0002t0007g0382 a0002c0002t0007g0383 a0002c0002t0007g0385 a0002c0002t0007g0386 a0002c0002t0007g0388 a0002c0002t0007g0389 a0002c0002t0007g0390 a0002c0002t0007g0401 a0002c0002t0007g0404 a0002c0002t0009g0366 a0002c0002t0009g0367 a0002c0002t0009g0370 a0002c0002t0009g0371 a0002c0002t0009g0372 a0002c0002t0009g0373 a0002c0002t0009g0377 a0002c0002t0009g0378 a0002c0002t0009g0379 a0002c0002t0009g0393 a0002c0002t0009g0395 a0002c0002t0017g0365 a0002c0002t0056g0346 a0002c0002t0057g0084 a0002c0002t0060g0369 a0002c0005t0010g0158 a0002c0005t0031g0146 a0003c0003t0005g0064 a0003c0003t0005g0067 a0003c0003t0005g0125 a0003c0003t0005g0131 a0003c0003t0005g0159 a0003c0003t0005g0180 a0003c0003t0005g0322 a0004c0007t0001g0323 a0005c0009t0033g0175 a0005c0009t0033g0178 a0006c0019t0042g0155 a0009c0012t0005g0157 a0011c0014t0015g0230 a0012c0015t0002g0065 a0013c0016t0020g0318 a0015c0010t0002g0059	170	408	0.4167	23	c.177 others(38): Show c.177+149_177+150insCCTTGAAGCAAAACCGCAGTCGG	SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	2/11			chr9	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0283 a0001c0001t0041g0283	1	300	0.0033	23	c.39+ others(38): Show c.39+6751_39+6752insAAAAAAAAAAAAATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	300	0.0033	23	c.39+ others(38): Show c.39+6751_39+6752insAAAAAAATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATS2L_chr2_200301693_200487264	200396033	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	300	0.0033	23	c.39+ others(38): Show c.39+6751_39+6752insAAAAATATATATATATATATATA	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01167.hp1 others(14): Show HG00323.hp2 HG00544.hp2 HG01167.hp1 HG01934.hp1 HG02015.hp2 HG02451.hp1 HG02735.hp2 HG02970.hp1 HG03490.hp1 NA18941.hp1 NA18982.hp2 NA19003.hp1 NA19043.hp1 NA19057.hp1 NA19063.hp2 NA19068.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0035 a0001c0001t0059 others(11): Show a0001c0001t0034 a0001c0001t0035 a0001c0001t0059 a0001c0001t0074 a0001c0001t0107 a0001c0001t0111 a0001c0001t0113 a0001c0001t0114 a0001c0001t0119 a0001c0001t0134 a0001c0001t0135 a0001c0001t0166 a0001c0001t0187 a0001c0001t0200	a0001c0001t0034g0209 a0001c0001t0034g0214 a0001c0001t0035g0040 others(13): Show a0001c0001t0034g0209 a0001c0001t0034g0214 a0001c0001t0035g0040 a0001c0001t0059g0140 a0001c0001t0059g0168 a0001c0001t0074g0212 a0001c0001t0107g0227 a0001c0001t0111g0278 a0001c0001t0113g0292 a0001c0001t0114g0299 a0001c0001t0119g0281 a0001c0001t0134g0119 a0001c0001t0135g0123 a0001c0001t0166g0288 a0001c0001t0187g0169 a0001c0001t0200g0174	17	438	0.0388	23	c.71 others(32): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPC25_chr2_168865891_168895430	168887421	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG06807.hp2 HG02818.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0053 a0001c0001t0006g0054	2	360	0.0056	23	c.199 others(40): Show c.199+1804_199+1805insTTTTTTTTTTTTTTTTTTTTTTT	SPC25	ENSG00000152253.9	transcript	ENST00000282074.7	protein_coding	3/6			chr2	TogoVar
SPCS2_chr11_74944266_74984033	74955851	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18954.hp2 HG01952.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	378	0.0053	23	c.114 others(40): Show c.114+6452_114+6453insTATATATATATATATATATATAT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4			chr11	TogoVar
SPDYE10_chr7_73099008_73160431	73123788	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	216	0.0046	23	c.-63 others(42): Show c.-639-8247_-639-8246insAGAGAGAGAGAGAGAGAGAGAGA	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73134523	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18971.hp2 NA18989.hp1 others(1): Show HG03831.hp2 NA18971.hp2 NA18989.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0020 a0001c0002t0001 a0001c0001t0018 a0001c0001t0020 a0001c0002t0001	a0001c0001t0018g0015 a0001c0001t0020g0190 a0001c0002t0001g0048 others(1): Show a0001c0001t0018g0015 a0001c0001t0020g0190 a0001c0002t0001g0048 a0001c0002t0001g0115	4	216	0.0185	23	c.-63 others(44): Show c.-639-18982_-639-18981insCTTTCTTTCTTTCTTTCTTTCTT	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73137712	G G	GGAGGGGA others(16): Show GGAGGGGAAGGGGGAGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02071.hp2 HG02132.hp1 others(3): Show HG00621.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp1 NA18945.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0021 a0001c0002t0001 a0001c0002t0021	a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 others(3): Show a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0021g0061	6	216	0.0278	23	c.-64 others(44): Show c.-640+17588_-640+17610dupTCCCTCCCCTCCCCCTTCCCCTC	SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding	1/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG01074.hp2 others(7): Show HG00323.hp2 HG00408.hp2 HG01074.hp2 HG01952.hp1 HG02273.hp1 HG02965.hp2 HG03486.hp1 NA19057.hp1 NA19065.hp1 NA21309.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0002 a0003c0003t0019 a0005c0006t0002 a0003c0003t0002 a0003c0003t0019 a0005c0006t0002	a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0075 others(5): Show a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0078 a0003c0003t0002g0081 a0003c0003t0019g0077 a0005c0006t0002g0083	10	255	0.0392	23	c.380 others(38): Show c.380-266_380-265insCAACAACAACAAAAAAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTGTTGTTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0066 a0003c0003t0002g0066	1	255	0.0039	23	c.380 others(38): Show c.380-266_380-265insCAACAACAAAAAAAAAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76539081	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTGTTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0023 a0004c0005t0023	a0004c0005t0023g0140 a0004c0005t0023g0140	1	255	0.0039	23	c.380 others(38): Show c.380-266_380-265insCAACAAAAAAAAAAAAAAAAAAA	SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	3/8			chr7	TogoVar
SPDYE2B_chr7_102645319_102667625	102654344	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0027 a0003c0004t0027	a0003c0004t0027g0112 a0003c0004t0027g0112	1	128	0.0078	23	c.380 others(38): Show c.380-638_380-637insAAAAAAAAAAAAAAAAAAAGGAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE2_chr7_102546226_102568538	102547832	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	164	0.0061	23	c.-38 others(34): Show c.-3878_-3877insAAAGAAAGAAAGAAAGAAAGAAA	SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding		3393		chr7	TogoVar
SPDYE6_chr7_102340746_102361444	102359659	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01891.hp1 HG00597.hp1 HG01891.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0011 a0003c0003 a0007c0011	a0003c0003t0003 a0007c0011t0003 a0003c0003t0003 a0007c0011t0003	a0003c0003t0003g0003 a0007c0011t0003g0155 a0003c0003t0003g0003 a0007c0011t0003g0155	2	439	0.0046	23	c.-36 others(34): Show c.-3637_-3636insTTTTTTTTTTTTTTTTTTTTTTT	SPDYE6	ENSG00000260097.3	transcript	ENST00000563237.3	protein_coding		3216		chr7	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0038 a0004c0005t0038	a0004c0005t0038g0237 a0004c0005t0038g0237	1	250	0.0040	23	c.-22 others(42): Show c.-22+12279_-22+12280insATATATATATATATATTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20194502	A A	ATTATTTT others(16): Show ATTATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp1 HG02970.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0097 a0001c0001t0028 a0001c0001t0097	a0001c0001t0028g0150 a0001c0001t0097g0149 a0001c0001t0028g0150 a0001c0001t0097g0149	2	250	0.0080	23	c.284 others(40): Show c.284-9829_284-9828insATTTTTTTTTTTTTTTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20251224	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp2 HG01934.hp2 others(17): Show HG00323.hp1 HG01192.hp2 HG01934.hp2 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02083.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp2 HG03017.hp2 HG03491.hp1 HG04199.hp1 NA18522.hp2 NA18951.hp1 NA18966.hp2 NA18974.hp2 NA19070.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0025 a0001c0001t0026 a0001c0001t0079 a0001c0001t0084 a0001c0001t0094 a0001c0010t0100	a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0112 others(17): Show a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0182 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0004g0007 a0001c0001t0004g0245 a0001c0001t0006g0005 a0001c0001t0006g0120 a0001c0001t0006g0157 a0001c0001t0010g0250 a0001c0001t0013g0249 a0001c0001t0025g0158 a0001c0001t0026g0184 a0001c0001t0026g0186 a0001c0001t0079g0119 a0001c0001t0084g0188 a0001c0001t0094g0171 a0001c0010t0100g0102	20	250	0.0800	23	c.259 others(42): Show c.2599-2264_2599-2263insAAAAAAAAAAAAAAAAAAAAAAA	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35756027	T T	TATTTTCC others(16): Show TATTTTCCATAGTTTGTTACCCAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0030 a0030	a0030c0043 a0030c0043	a0030c0043t0001 a0030c0043t0001	a0030c0043t0001g0226 a0030c0043t0001g0226	1	268	0.0037	23	c.346 others(42): Show c.3468+2268_3468+2290dupTTTTCCATAGTTTGTTACCCACA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEN_chr1_15842707_15945456	15904452	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03654.hp1 NA19090.hp1 HG02132.hp1 HG03654.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0061 a0001c0015t0001g0046 a0001c0015t0001g0062 a0001c0001t0001g0061 a0001c0015t0001g0046 a0001c0015t0001g0062	3	304	0.0099	23	c.882 others(40): Show c.882-4866_882-4844dupAAAAAAAAAAAAAAAAAAAAAAA	SPEN	ENSG00000065526.13	transcript	ENST00000375759.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPHK1_chr17_76379609_76392855	76388640	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	412	0.0024	23	c.10 others(34): Show c.1054_*1055insTTTTTTTTTTTTTTTTTTTTTTT	SPHK1	ENSG00000176170.14	transcript	ENST00000592299.6	protein_coding		786		chr17	TogoVar
SPI1_chr11_47349860_47383547	47380586	T T	TTGTTGTT others(16): Show TTGTTGTTGTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	390	0.0026	23	c.-22 others(34): Show c.-2234_-2233insCAACAACAACAACAACAACAACA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2040		chr11	TogoVar
SPI1_chr11_47349860_47383547	47381507	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02257.hp1 HG03098.hp1 HG01358.hp1 HG02257.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0238 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0238	3	390	0.0077	23	c.-31 others(34): Show c.-3155_-3154insATATATATATATATATATATATA	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding		2961		chr11	TogoVar
SPIC_chr12_101470336_101491997	101479172	A A	AAAAGAAA others(16): Show AAAAGAAAAAAGAAAGAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	398	0.0025	23	c.98- others(36): Show c.98-403_98-402insAAAGAAAGAAGAAAAGAAAGAAA	SPIC	ENSG00000166211.8	transcript	ENST00000551346.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01257.hp2 HG06807.hp1 others(1): Show HG01081.hp1 HG01257.hp2 HG06807.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0106	4	216	0.0185	23	c.109 others(44): Show c.1098-29818_1098-29817insATATATATATATATATATATATT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02015.hp2 HG02056.hp2 others(1): Show HG01123.hp2 HG02015.hp2 HG02056.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0092	4	216	0.0185	23	c.109 others(44): Show c.1098-29818_1098-29817insATATATATATATATATATATTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47565992	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19066.hp1 HG01074.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0076 a0001c0001t0001g0084	2	216	0.0093	23	c.109 others(44): Show c.1098-29818_1098-29817insATATATATATATATATTTTTTTT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02615.hp1 NA19003.hp1 others(1): Show HG02071.hp1 HG02615.hp1 NA19003.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0057 a0001c0001t0001g0144 a0001c0001t0003g0273 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0144 a0001c0001t0003g0273 a0001c0001t0013g0011	4	328	0.0122	23	c.372 others(42): Show c.372+19716_372+19717insATATATTTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03098.hp2 HG02165.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0003 a0001c0001t0030	a0001c0001t0003g0298 a0001c0001t0030g0275 a0001c0001t0003g0298 a0001c0001t0030g0275	2	328	0.0061	23	c.372 others(42): Show c.372+19716_372+19717insATATATATTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	328	0.0031	23	c.372 others(42): Show c.372+19716_372+19717insATATATATATATTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	328	0.0031	23	c.372 others(42): Show c.372+19716_372+19717insATATATATATATATTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89828383	C C	CCCCTCCG others(16): Show CCCCTCCGCGCCCCGCCCCCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18993.hp1 NA19088.hp1 NA18971.hp2 NA18993.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108	3	356	0.0084	23	c.-16 others(32): Show c.-168_-167insCCCTCCGCGCCCCGCCCCCCGCG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding		91		chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(16): Show ACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18943.hp1 NA18967.hp1 others(1): Show HG02165.hp1 NA18943.hp1 NA18967.hp1 NA18982.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0025 a0002c0002 a0009c0025	a0002c0002t0002 a0009c0025t0002 a0002c0002t0002 a0009c0025t0002	a0002c0002t0002g0027 a0002c0002t0002g0035 a0002c0002t0002g0053 others(1): Show a0002c0002t0002g0027 a0002c0002t0002g0035 a0002c0002t0002g0053 a0009c0025t0002g0039	4	356	0.0112	23	c.180 others(40): Show c.1807-522_1807-521insCATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	356	0.0028	23	c.180 others(40): Show c.1807-513_1807-512insAAAAATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01358.hp2 HG02970.hp2 HG00735.hp2 HG01358.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0147 a0001c0001t0001g0290 a0001c0001t0001g0293	3	356	0.0084	23	c.180 others(40): Show c.1807-513_1807-512insAAATATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS3_chr17_4428940_4493204	4458618	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0029 a0001c0006t0002g0029	1	362	0.0028	23	c.111 others(42): Show c.1113+5416_1113+5438dupCTTTCTTTCTTTCTTTCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458642	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0003 a0001c0038t0003	a0001c0038t0003g0293 a0001c0038t0003g0293	1	362	0.0028	23	c.111 others(42): Show c.1113+5444_1113+5445insTTTCTTTCTTTCTTTCTTCTTTC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar

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