Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SOX18_chr20_64042582_64054639	64042875	G G	GGGGTCGT others(33): Show GGGGTCGTGGGGGACGGGACGGGGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(81): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00558.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02129.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18943.hp2 NA18950.hp2 NA18964.hp2 NA18971.hp2 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19077.hp1 NA19081.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0003 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0004g0011 a0001c0001t0005g0012 a0001c0001t0006g0026 a0001c0001t0007g0028 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0018 a0004c0008t0001g0029	84	352	0.2386	40	c.52 others(51): Show c.5290_*5291insGCCCCGTCCCCCACGACCCCCGTCCCGTCCCCCA CGACCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4706		chr20	TogoVar
SOX18_chr20_64042582_64054639	64042917	G G	GGGGTCGT others(33): Show GGGGTCGTGGGGGACGGGACGGAGGTCGTGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG03491.hp1 others(1): Show HG01168.hp1 HG01169.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	4	352	0.0114	40	c.52 others(51): Show c.5248_*5249insGCCCCGTCCCCCACGACCTCCGTCCCGTCCCCCA CGACCC	SOX18	ENSG00000203883.7	transcript	ENST00000340356.9	protein_coding		4664		chr20	TogoVar
SOX5_chr12_23524504_23954670	23530818	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0192 a0001c0001t0093g0192	1	212	0.0047	40	c.34 others(51): Show c.3400_*3401insGCGCGCGCGCACACACACACACACACACACACAC ACACAC	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	15/15	3400		chr12	TogoVar
SOX5_chr12_23524504_23954670	23715292	C C	CAAAATAA others(33): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0149 a0001c0001t0043g0149	1	212	0.0047	40	c.810 others(59): Show c.810+19391_810+19392insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SOX6_chr11_15961449_16361546	16349674	G G	GAGGGAGG others(33): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	218	0.0046	40	c.-5+ others(55): Show c.-5+6419_-5+6420insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTCCCTCCCT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15			chr11	TogoVar
SP100_chr2_230411201_230550606	230436866	G G	GTATATGT others(33): Show GTATATGTGTATACACACACATATATGTGTATACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01081.hp2 others(7): Show HG00323.hp1 HG00738.hp2 HG01081.hp2 HG01433.hp2 HG02280.hp2 HG02602.hp1 HG03017.hp1 HG03471.hp1 HG04115.hp2 NA18973.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0003t0002 a0001c0003t0004 a0001c0009t0007 a0002c0002t0001 a0003c0004t0003	a0001c0001t0002g0104 a0001c0001t0004g0049 a0001c0001t0010g0129 others(7): Show a0001c0001t0002g0104 a0001c0001t0004g0049 a0001c0001t0010g0129 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0004g0124 a0001c0009t0007g0273 a0002c0002t0001g0106 a0003c0004t0003g0060 a0003c0004t0003g0272	10	290	0.0345	40	c.108 others(57): Show c.108-6032_108-6031insATATATGTGTATACACACACATATATGT GTATACACACAC	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230436866	G G	GTATATGT others(33): Show GTATATGTGTATACACACACATATATGTGTATACACACATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp1 HG01167.hp2 others(46): Show HG00408.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18950.hp2 NA18967.hp1 NA18970.hp2 NA18984.hp2 NA19002.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0019 a0002c0002 a0002c0005 a0002c0020 a0002c0021 a0003c0004 a0010c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 a0001c0001t0026 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0012 a0001c0007t0014 a0001c0007t0017 a0001c0009t0002 a0001c0009t0010 a0001c0019t0016 a0002c0002t0001 a0002c0002t0013 a0002c0005t0001 a0002c0005t0013 a0002c0020t0023 a0002c0021t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0010c0012t0009	a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0275 others(46): Show a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0275 a0001c0001t0003g0055 a0001c0001t0003g0073 a0001c0001t0003g0093 a0001c0001t0004g0048 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0019g0064 a0001c0001t0026g0059 a0001c0003t0003g0062 a0001c0003t0003g0109 a0001c0003t0004g0248 a0001c0003t0007g0054 a0001c0003t0007g0110 a0001c0003t0007g0114 a0001c0003t0007g0249 a0001c0003t0007g0250 a0001c0003t0012g0047 a0001c0003t0012g0246 a0001c0007t0014g0029 a0001c0007t0014g0031 a0001c0007t0014g0032 a0001c0007t0017g0030 a0001c0009t0002g0081 a0001c0009t0010g0063 a0001c0019t0016g0034 a0002c0002t0001g0077 a0002c0002t0013g0058 a0002c0005t0001g0051 a0002c0005t0001g0056 a0002c0005t0001g0057 a0002c0005t0001g0067 a0002c0005t0001g0068 a0002c0005t0001g0079 a0002c0005t0013g0105 a0002c0020t0023g0035 a0002c0021t0001g0100 a0003c0004t0002g0112 a0003c0004t0002g0116 a0003c0004t0003g0080 a0003c0004t0003g0102 a0003c0004t0003g0111 a0003c0004t0003g0113 a0003c0004t0003g0115 a0003c0004t0004g0050 a0003c0004t0004g0247 a0010c0012t0009g0086	49	290	0.1690	40	c.108 others(57): Show c.108-6033_108-6032insTATATATGTGTATACACACACATATATG TGTATACACACA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497534	G G	GAGGAAAG others(33): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18974.hp1 HG02523.hp2 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0062 a0001c0003t0003g0187 a0001c0003t0003g0062 a0001c0003t0003g0187	2	290	0.0069	40	c.164 others(57): Show c.1646-923_1646-922insAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	G G	GAGGAAAG others(33): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0152 a0004c0006t0004g0152	1	290	0.0035	40	c.164 others(57): Show c.1646-882_1646-843dupAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	G G	GAGGAGAG others(33): Show GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0257 a0002c0005t0001g0257	1	290	0.0035	40	c.164 others(57): Show c.1646-913_1646-912insGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAAAGGAAAGGA	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA3_chr17_32986847_33002877	33001210	G G	GTATATGA others(33): Show GTATATGATGAGAGACAGGGGTCGTTTCATTCTTCTGCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	470	0.0021	40	c.34 others(51): Show c.3432_*3433insTATATGATGAGAGACAGGGGTCGTTTCATTCTTC TGCACA	SPACA3	ENSG00000141316.13	transcript	ENST00000269053.8	protein_coding		3334		chr17	TogoVar
SPAG16_chr2_213279464_214415501	213860433	A A	ATATCTAT others(33): Show ATATCTATATATAGATATATGTATATATATATACATATATC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG02976.hp2 HG02615.hp1 HG02886.hp2 HG02976.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0005 a0007c0011 a0001c0001 a0005c0005 a0007c0011	a0001c0001t0002 a0005c0005t0001 a0007c0011t0001 a0001c0001t0002 a0005c0005t0001 a0007c0011t0001	a0001c0001t0002g0067 a0005c0005t0001g0081 a0007c0011t0001g0086 a0001c0001t0002g0067 a0005c0005t0001g0081 a0007c0011t0001g0086	3	86	0.0349	40	c.107 others(59): Show c.1071-2049_1071-2048insCTATATATAGATATATGTATATATAT ATACATATATCTAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118089354	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19065.hp1 NA19064.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0041 a0002c0002t0001g0042	2	266	0.0075	40	c.135 others(59): Show c.1359+2251_1359+2252insTCACACACACACACACACACACACAC ACACACACACACAC	SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	10/48			chr1	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AAGGAAAG others(33): Show AAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02818.hp1 HG01081.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	320	0.0063	40	c.-58 others(49): Show c.-580_-579insAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG AAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	40	c.-18 others(51): Show c.-1805_-1804insATATATATATATATATATATATATATATATATAT TTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG6_chr10_22340496_22422610	22413688	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	142	0.0070	40	c.146 others(59): Show c.1460+2532_1460+2533insATATATATATATATATATATATATAT ATATATATATATAT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAG9_chr17_50957174_51125868	51077005	G G	GCTATCTA others(33): Show GCTATCTAGCTATCTAGCTAGCTAGCTATCTATCTAGCTAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG01109.hp1 others(9): Show HG00558.hp1 HG00639.hp2 HG01109.hp1 HG01192.hp1 HG01934.hp1 HG01981.hp1 HG02300.hp2 HG03225.hp1 NA18955.hp1 NA18982.hp1 NA18984.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0001 a0001c0005t0004	a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0237 others(9): Show a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0005t0001g0208 a0001c0005t0001g0209 a0001c0005t0001g0235 a0001c0005t0001g0241 a0001c0005t0001g0255 a0001c0005t0001g0264 a0001c0005t0004g0243	12	292	0.0411	40	c.424 others(57): Show c.424+2578_424+2579insATAGCTAGATAGATAGCTAGCTAGCTAG ATAGCTAGATAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077029	T T	TCTATCTA others(33): Show TCTATCTAGCTATCTAGCTATCTAGCTAGCTATCTAGCTAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	292	0.0034	40	c.424 others(57): Show c.424+2515_424+2554dupCTAGCTAGATAGCTAGCTAGATAGCTAG ATAGCTAGATAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18959.hp1 NA19067.hp2 HG00408.hp2 NA18959.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0020 a0001c0004t0001 a0001c0005t0003 a0001c0001t0020 a0001c0004t0001 a0001c0005t0003	a0001c0001t0020g0087 a0001c0004t0001g0160 a0001c0005t0003g0316 a0001c0001t0020g0087 a0001c0004t0001g0160 a0001c0005t0003g0316	3	356	0.0084	40	c.65 others(51): Show c.6510_*6511insTATATATATATATATATATATATATATATATATA TATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	172960875	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	200	0.0050	40	c.934 others(57): Show c.934-4052_934-4051insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA16_chr3_172884357_173146235	173028013	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0181 a0010c0010t0001g0181	1	200	0.0050	40	c.759 others(57): Show c.759-8439_759-8438insAAGGAAAGAAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGG	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	3/10			chr3	TogoVar
SPATA5_chr4_122918078_123324433	123132614	A A	ATATATAT others(33): Show ATATATATATATATGTGTACATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	262	0.0038	40	c.234 others(61): Show c.2340+41910_2340+41911insATATATATATATGTGTACATATAT ATATATATATATATGT	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATS2L_chr2_200301693_200487264	200468347	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01993.hp1 HG03540.hp1 HG01123.hp1 HG01993.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0019 a0001c0001t0002 a0002c0004t0019	a0001c0001t0002g0150 a0001c0001t0002g0174 a0002c0004t0019g0135 a0001c0001t0002g0150 a0001c0001t0002g0174 a0002c0004t0019g0135	3	300	0.0100	40	c.957 others(55): Show c.957+980_957+981insACACACACACACACACACACACACACACAC ACACACACAC	SPATS2L	ENSG00000196141.14	transcript	ENST00000409140.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPCS3_chr4_176314966_176337245	176327443	T T	TCCCCCCC others(33): Show TCCCCCCCCCCCGGCCTGCCCCCCCCTACCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	470	0.0021	40	c.410 others(55): Show c.410+167_410+168insCCCCCCCCCCGGCCTGCCCCCCCCTACCCC CCCCCCCCCC	SPCS3	ENSG00000129128.13	transcript	ENST00000503362.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	394	0.0025	40	c.-39 others(51): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPEF2_chr5_35612863_35819611	35751001	A A	ATATATAC others(33): Show ATATATACGTATATATATACACATATGTATATATATATACG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02451.hp2 HG02622.hp1 others(2): Show HG01099.hp1 HG02451.hp2 HG02622.hp1 HG02976.hp2 NA18522.hp2	a0007 a0007	a0007c0011 a0007c0044 a0007c0011 a0007c0044	a0007c0011t0001 a0007c0044t0001 a0007c0011t0001 a0007c0044t0001	a0007c0011t0001g0142 a0007c0011t0001g0143 a0007c0011t0001g0144 others(2): Show a0007c0011t0001g0142 a0007c0011t0001g0143 a0007c0011t0001g0144 a0007c0011t0001g0147 a0007c0044t0001g0146	5	268	0.0187	40	c.333 others(59): Show c.3331-2617_3331-2616insCGTATATATATACACATATGTATATA TATATACGTATATA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	23/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPHK2_chr19_48614506_48635405	48616643	C C	CCAGCACA others(33): Show CCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	398	0.0025	40	c.-30 others(51): Show c.-3014_-3013insCAGCACAGCACAGCACAGCACAGCACAGCACAGC ACAGCA	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		2862		chr19	TogoVar
SPHKAP_chr2_227974955_228186687	228113603	A A	ATCTCTCT others(33): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18992.hp1 HG01433.hp2 NA18992.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0011 a0002c0002 a0010c0011	a0002c0002t0001 a0010c0011t0001 a0002c0002t0001 a0010c0011t0001	a0002c0002t0001g0173 a0010c0011t0001g0202 a0002c0002t0001g0173 a0010c0011t0001g0202	2	322	0.0062	40	c.139 others(57): Show c.139-4704_139-4665dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	2/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01167.hp1 others(20): Show HG00408.hp2 HG00738.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp2 HG01346.hp2 HG01358.hp2 HG01978.hp1 HG02132.hp2 HG02145.hp2 HG02293.hp2 HG02300.hp2 HG02683.hp2 HG02723.hp1 HG03239.hp1 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19058.hp2 NA19068.hp1 NA19081.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0021	a0001c0001 a0002c0002 a0003c0005 others(5): Show a0001c0001 a0002c0002 a0003c0005 a0004c0004 a0004c0020 a0005c0003 a0008c0009 a0021c0031	a0001c0001t0002 a0001c0001t0008 a0002c0002t0013 others(9): Show a0001c0001t0002 a0001c0001t0008 a0002c0002t0013 a0003c0005t0001 a0003c0005t0007 a0004c0004t0003 a0004c0020t0003 a0005c0003t0001 a0005c0003t0003 a0005c0003t0004 a0008c0009t0003 a0021c0031t0015	a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0219 others(20): Show a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0008g0264 a0002c0002t0013g0145 a0003c0005t0001g0248 a0003c0005t0001g0294 a0003c0005t0007g0140 a0004c0004t0003g0070 a0004c0004t0003g0227 a0004c0004t0003g0237 a0004c0004t0003g0245 a0004c0020t0003g0142 a0005c0003t0001g0247 a0005c0003t0003g0238 a0005c0003t0004g0311 a0005c0003t0004g0313 a0005c0003t0004g0314 a0008c0009t0003g0154 a0021c0031t0015g0266	23	322	0.0714	40	c.33- others(55): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(33): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG01261.hp1 others(18): Show HG00280.hp1 HG00408.hp1 HG01261.hp1 HG01884.hp1 HG02109.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02896.hp2 HG03453.hp2 HG03579.hp1 HG04228.hp1 NA18906.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18975.hp1 NA18977.hp2 NA19056.hp1 NA19060.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0015 others(4): Show a0001c0001 a0001c0004 a0001c0015 a0002c0003 a0002c0008 a0003c0005 a0004c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0004t0004 a0001c0015t0002 a0002c0003t0005 a0002c0003t0009 a0002c0008t0012 a0003c0005t0004 a0004c0006t0002	a0001c0001t0002g0033 a0001c0001t0004g0049 a0001c0001t0004g0187 others(18): Show a0001c0001t0002g0033 a0001c0001t0004g0049 a0001c0001t0004g0187 a0001c0001t0006g0322 a0001c0001t0006g0324 a0001c0001t0010g0239 a0001c0001t0010g0240 a0001c0004t0004g0107 a0001c0004t0004g0113 a0001c0004t0004g0115 a0001c0004t0004g0118 a0001c0015t0002g0072 a0002c0003t0005g0338 a0002c0003t0005g0341 a0002c0003t0005g0353 a0002c0003t0009g0345 a0002c0008t0012g0165 a0003c0005t0004g0167 a0003c0005t0004g0172 a0003c0005t0004g0174 a0004c0006t0002g0066	21	364	0.0577	40	c.611 others(57): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIDR_chr8_47255938_47741306	47458323	G G	GTATTTTA others(33): Show GTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19056.hp2 NA18982.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0056 a0001c0001t0002g0028 a0001c0001t0002g0056	2	216	0.0093	40	c.109 others(61): Show c.1097+17811_1097+17850dupTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp1 HG02559.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0044 a0001c0001t0008g0070 a0001c0001t0008g0044 a0001c0001t0008g0070	2	176	0.0114	40	c.53- others(55): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGCG CGCGCGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0045	1	176	0.0057	40	c.53- others(55): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG CGCGCGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	176	0.0057	40	c.53- others(55): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGCGCGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	176	0.0057	40	c.53- others(55): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGCGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA20300.hp2 HG02080.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0051 a0001c0001t0003g0040 a0001c0001t0002g0051 a0001c0001t0003g0040	2	176	0.0114	40	c.53- others(55): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01515.hp1 HG01517.hp2 HG00099.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0019 a0001c0001t0005g0011 a0001c0001t0005g0027 a0001c0001t0003g0019 a0001c0001t0005g0011 a0001c0001t0005g0027	3	176	0.0171	40	c.53- others(55): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK6_chr5_148198042_148220137	148210007	C C	CATACACA others(33): Show CATACACACGTACGTATGTATACATACACACGTACGTATGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	438	0.0023	40	c.82- others(55): Show c.82-3901_82-3900insACACACGTACGTATGTATACATACACACGT ACGTATGTAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148212649	T T	TATATATT others(33): Show TATATATTTATATTATATATTATATATTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03710.hp1 HG03654.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0165 a0001c0001t0001g0094 a0001c0001t0001g0165	2	438	0.0046	40	c.82- others(55): Show c.82-1255_82-1254insTTATATTATATATTATATATTATATATAAT ATAAATATAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT4_chr20_45717347_45730830	45728372	C C	CAAAAGCA others(33): Show CAAAAGCAATTGCAACAAAAATAAATAAATAGCAAAATTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(222): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 others(4): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(102): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0004g0012 a0002c0002t0004g0032 a0002c0002t0004g0088 a0002c0002t0004g0089 a0002c0002t0004g0093 a0002c0002t0004g0094 a0002c0002t0004g0120 a0002c0002t0005g0004 a0002c0002t0006g0015 a0003c0003t0001g0014 a0003c0003t0001g0086 a0004c0004t0001g0034 a0004c0004t0001g0101 a0005c0005t0001g0071	225	458	0.4913	40	c.27 others(51): Show c.2737_*2738insAAAAGCAATTGCAACAAAAATAAATAAATAGCAA AATTAA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding		2543		chr20	TogoVar
SPIRE1_chr18_12441512_12663107	12461535	G G	GTACATAT others(33): Show GTACATATGTATATACATACATGTGTGTATATGTATGTACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01243.hp1 others(12): Show HG01167.hp1 HG01169.hp2 HG01243.hp1 HG02486.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03195.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0049 others(12): Show a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0003t0004g0041 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047	15	328	0.0457	40	c.163 others(59): Show c.1638+1815_1638+1816insTGTACATACATATACACACATGTATG TATATACATATGTA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	328	0.0031	40	c.372 others(59): Show c.372+19716_372+19717insATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89852391	C C	CCCGTCAT others(33): Show CCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01243.hp1 HG01358.hp2 others(4): Show HG00280.hp1 HG01243.hp1 HG01358.hp2 HG02293.hp2 NA18522.hp2 NA18977.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 others(1): Show a0001c0001 a0001c0003 a0001c0012 a0001c0018	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0012t0005 a0001c0018t0012	a0001c0001t0001g0290 a0001c0001t0001g0327 a0001c0001t0001g0352 others(4): Show a0001c0001t0001g0290 a0001c0001t0001g0327 a0001c0001t0001g0352 a0001c0003t0001g0274 a0001c0003t0005g0276 a0001c0012t0005g0272 a0001c0018t0012g0346	7	356	0.0197	40	c.645 others(57): Show c.645+1733_645+1734insGTCATCCGTCTTCTCTCTCACCCCCCGG ATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852441	T T	TCCTCCCT others(33): Show TCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCGTC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	356	0.0028	40	c.645 others(57): Show c.645+1785_645+1786insCCTCCACCCCCCGGATCCCCTGGCCCAT CTTCCGTCCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852469	C C	CCCGTCAT others(33): Show CCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18993.hp1 NA19088.hp1 HG03491.hp1 NA18993.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0167 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0167	3	356	0.0084	40	c.645 others(57): Show c.645+1811_645+1812insGTCATCCGTCTTCTCTCTCACCCCCCGG ATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852508	C C	CCCGTCAT others(33): Show CCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	356	0.0028	40	c.646 others(57): Show c.646-1776_646-1775insGTCATCCGTCTTCTCTCTCACCCCCCGG ATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852586	C C	CCCGTCAT others(33): Show CCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03654.hp2 NA18940.hp2 others(4): Show HG02738.hp1 HG03654.hp2 NA18940.hp2 NA18995.hp1 NA19057.hp2 NA19072.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0220 others(4): Show a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0220 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0265 a0001c0001t0004g0212	7	356	0.0197	40	c.646 others(57): Show c.646-1698_646-1697insGTCATCCGTCTTCTCTCTCACCCCCCGG ATCCCATGATCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(33): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG01071.hp1 others(16): Show HG00597.hp1 HG00733.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01346.hp2 HG02015.hp1 HG02015.hp2 HG02129.hp2 HG02148.hp1 HG02698.hp2 HG03490.hp2 NA18947.hp2 NA18954.hp1 NA18994.hp1 NA18995.hp2 NA19072.hp2 NA19081.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0018 others(2): Show a0001c0001 a0001c0006 a0001c0018 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0018t0012 a0002c0002t0002 a0004c0004t0001	a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0087 others(16): Show a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0190 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0001t0001g0267 a0001c0001t0004g0170 a0001c0001t0004g0224 a0001c0006t0001g0015 a0001c0018t0012g0346 a0002c0002t0002g0024 a0002c0002t0002g0031 a0002c0002t0002g0037 a0004c0004t0001g0197 a0004c0004t0001g0211	19	356	0.0534	40	c.646 others(57): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCGTCTT others(33): Show TCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	356	0.0028	40	c.646 others(57): Show c.646-1471_646-1432dupGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852761	C C	CCTCTCAC others(33): Show CCTCTCACCCTCAAGATCCCATGGCCCATCTTCCGTCCTCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	356	0.0028	40	c.646 others(57): Show c.646-1516_646-1515insTCAAGATCCCATGGCCCATCTTCCGTCC TCTCTCTCACCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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