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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SNIP1_chr1_37529449_37559293	37559064	GGAACAGT others(26): Show GGAACAGTGGGGAATGATTTCACAGAGGCCCGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	394	0.0025	-33	c.-48 others(44): Show c.-4868_-4836delAACGGGCCTCTGTGAAATCATTCCCCACTGTTC		SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding					4772		chr1	TogoVar
SNTG2_chr2_945849_1372613	1167623	CAAGCCGC others(26): Show CAAGCCGCCCACAGACGGCAGAACTGAAGCCTAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(29): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01975.hp1 HG02015.hp1 HG02071.hp1 HG02148.hp2 HG02293.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18942.hp1 NA18943.hp2 NA18963.hp1 NA18986.hp2 NA19084.hp1 NA19084.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0002c0005 others(1): Show a0001c0001 a0002c0003 a0002c0005 a0005c0015	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0005c0015t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(29): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0002c0003t0001g0026 a0002c0003t0001g0030 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0064 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0138 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0014 a0002c0005t0001g0032 a0002c0005t0001g0107 a0002c0005t0001g0114 a0002c0005t0001g0167 a0002c0005t0001g0168 a0005c0015t0001g0037	32	190	0.1684	-33	c.499 others(50): Show c.499+2120_499+2152delGAAGCCGCCCACAGACGGCAGAACTGAA GCCTA		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1168189	TGCCCACA others(26): Show TGCCCACAGACGGCAGAACTGAAGCCTACAGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(31): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01975.hp1 HG02015.hp1 HG02071.hp1 HG02109.hp1 HG02148.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18942.hp1 NA18943.hp2 NA18963.hp1 NA18983.hp2 NA18986.hp2 NA19084.hp1 NA19084.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0012	a0001c0001 a0002c0003 a0002c0005 others(4): Show a0001c0001 a0002c0003 a0002c0005 a0003c0008 a0005c0015 a0007c0017 a0012c0019	a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 others(4): Show a0001c0001t0001 a0002c0003t0001 a0002c0005t0001 a0003c0008t0001 a0005c0015t0001 a0007c0017t0001 a0012c0019t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(31): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0002c0003t0001g0026 a0002c0003t0001g0030 a0002c0003t0001g0051 a0002c0003t0001g0064 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0138 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0014 a0002c0005t0001g0032 a0002c0005t0001g0107 a0002c0005t0001g0114 a0002c0005t0001g0167 a0003c0008t0001g0060 a0005c0015t0001g0037 a0007c0017t0001g0118 a0012c0019t0001g0122 a0012c0019t0001g0159	34	190	0.1790	-33	c.499 others(50): Show c.499+2615_499+2647delCAGGCCGCCCACAGACGGCAGAACTGAA GCCTA		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842513	AGAGAGAG others(26): Show AGAGAGAGAGAGAAAGAGAAAGAAAACGAGCGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	306	0.0033	-33	c.-52 others(42): Show c.-521_-489delCTCGCTCGTTTTCTTTCTCTTTCTCTCTCTCTC		SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding					329		chr8	TogoVar
SNX18_chr5_54512759_54551586	54512804	GCCTTCCT others(26): Show GCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02523.hp1 HG02165.hp2 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	390	0.0051	-33	c.-51 others(44): Show c.-5148_-5116delCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTT		SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding					4954		chr5	TogoVar
SNX27_chr1_151607050_151704080	151676270	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18997.hp2 NA18979.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0052 a0001c0001t0006 a0001c0001t0052	a0001c0001t0006g0188 a0001c0001t0052g0238 a0001c0001t0006g0188 a0001c0001t0052g0238	2	366	0.0055	-33	c.115 others(52): Show c.1150-7065_1150-7033delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12476374	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0051 a0001c0002t0003g0051	1	176	0.0057	-33	c.203 others(52): Show c.2038-1343_2038-1311delAAAAAAAAATATATATATATATATAT ATATATA		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX6_chr14_34556093_34635148	34557496	ATTCTTCT others(26): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	322	0.0031	-33	c.55 others(44): Show c.5593_*5625delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding					3596		chr14	TogoVar
SNX9_chr6_157818246_157950077	157827465	ACTTATAG others(26): Show ACTTATAGTTTATATAATATATAAACTTATAGTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19240.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0065 a0001c0001t0004g0066	2	302	0.0066	-33	c.12+ others(48): Show c.12+4020_12+4052delCTTATAGTTTATATAATATATAAACTTATA GTT		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17						chr6	TogoVar
SON_chr21_33538038_33582481	33552491	GTGCTGAC others(26): Show GTGCTGACCGGTCTATGATGTCGTCATACTCTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01952.hp2 HG01952.hp2	a0022 a0022	a0022c0029 a0022c0029	a0022c0029t0001 a0022c0029t0001	a0022c0029t0001g0054 a0022c0029t0001g0054	1	364	0.0028	-33	c.328 others(42): Show c.3282_3314delGTCATACTCTGCTGCTGACCGGTCTATGATGTC	p.Ser others(15): Show p.Ser1095_Ser1105del	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	3/12	3337/8393	3282/7281	1094/2426		INFO_REALIGN_3_PRIME	chr21	TogoVar
SON_chr21_33538038_33582481	33577668	CACACACA others(26): Show CACACACACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	364	0.0028	-33	c.12 others(44): Show c.1245_*1277delACACACACACACACACACACACACACACACACA		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					188		chr21	TogoVar
SORBS1_chr10_95306773_95566371	95333998	AGGTTCTC others(26): Show AGGTTCTCAGGTAAAATTCCCTCCCATTATTGGT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	300	0.0033	-33	c.363 others(52): Show c.3639+2490_3639+2522delACCAATAATGGGAGGGAATTTTACCT GAGAACC		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	30/32						chr10	TogoVar
SORCS2_chr4_7187538_7747827	7403977	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0019 a0001c0014t0019	a0001c0014t0019g0139 a0001c0014t0019g0139	1	168	0.0060	-33	c.548 others(50): Show c.548+7624_548+7656delATATATATATATATATATATTTTTTTTT TTTTT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7470600	CTTGGAGA others(26): Show CTTGGAGAGACACAGGTGATGGTCTGGGCGAGGA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp2 HG02615.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0018 a0001c0005t0042 a0001c0001t0018 a0001c0005t0042	a0001c0001t0018g0099 a0001c0005t0042g0157 a0001c0001t0018g0099 a0001c0005t0042g0157	2	168	0.0119	-33	c.549 others(52): Show c.549-60909_549-60877delGTCTGGGCGAGGATTGGAGAGACACA GGTGATG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7683238	ATCAGCTG others(26): Show ATCAGCTGAGCGGCTCTGCTGACCTTGGCTGGGC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03453.hp1 HG01175.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0038 a0001c0006 a0001c0038	a0001c0006t0005 a0001c0038t0038 a0001c0006t0005 a0001c0038t0038	a0001c0006t0005g0165 a0001c0038t0038g0128 a0001c0006t0005g0165 a0001c0038t0038g0128	2	168	0.0119	-33	c.148 others(50): Show c.1488+392_1488+424delCGGCTCTGCTGACCTTGGCTGGGCTCAG CTGAG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	10/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7683347	CGGCTCTG others(26): Show CGGCTCTGCTGATCTTGTCTGGGCTCAGCTGGGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp2 others(45): Show HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00642.hp2 HG01070.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp2 HG02040.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02622.hp1 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03492.hp1 HG03579.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA19000.hp1 NA19066.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0011	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0001c0014 a0001c0017 a0001c0026 a0001c0028 a0001c0029 a0001c0031 a0001c0036 a0001c0038 a0001c0047 a0002c0004 a0003c0046 a0005c0008 a0006c0018 a0006c0020 a0011c0027	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(43): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0041 a0001c0002t0053 a0001c0002t0054 a0001c0002t0061 a0001c0002t0065 a0001c0002t0067 a0001c0003t0001 a0001c0003t0008 a0001c0003t0010 a0001c0003t0015 a0001c0006t0001 a0001c0006t0017 a0001c0006t0066 a0001c0009t0001 a0001c0009t0029 a0001c0010t0076 a0001c0014t0019 a0001c0017t0005 a0001c0017t0016 a0001c0026t0062 a0001c0028t0028 a0001c0029t0074 a0001c0031t0026 a0001c0036t0044 a0001c0038t0038 a0001c0047t0071 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0004t0014 a0003c0046t0001 a0005c0008t0013 a0006c0018t0059 a0006c0020t0020 a0011c0027t0002	a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0005g0067 others(45): Show a0001c0001t0002g0089 a0001c0001t0003g0048 a0001c0001t0005g0067 a0001c0001t0005g0130 a0001c0001t0006g0055 a0001c0001t0007g0063 a0001c0001t0009g0014 a0001c0001t0050g0106 a0001c0002t0001g0087 a0001c0002t0002g0062 a0001c0002t0002g0133 a0001c0002t0003g0131 a0001c0002t0041g0096 a0001c0002t0053g0082 a0001c0002t0054g0050 a0001c0002t0061g0121 a0001c0002t0065g0004 a0001c0002t0067g0115 a0001c0003t0001g0081 a0001c0003t0008g0135 a0001c0003t0010g0021 a0001c0003t0015g0140 a0001c0006t0001g0119 a0001c0006t0017g0117 a0001c0006t0066g0084 a0001c0009t0001g0151 a0001c0009t0029g0038 a0001c0010t0076g0163 a0001c0014t0019g0139 a0001c0017t0005g0056 a0001c0017t0016g0124 a0001c0026t0062g0049 a0001c0028t0028g0152 a0001c0029t0074g0162 a0001c0031t0026g0144 a0001c0036t0044g0022 a0001c0038t0038g0128 a0001c0047t0071g0051 a0002c0004t0002g0013 a0002c0004t0003g0095 a0002c0004t0006g0136 a0002c0004t0008g0060 a0002c0004t0014g0110 a0003c0046t0001g0164 a0005c0008t0013g0155 a0006c0018t0059g0145 a0006c0020t0020g0037 a0011c0027t0002g0116	48	168	0.2857	-33	c.148 others(50): Show c.1488+516_1488+548delCAGCTGGGTGGCTCTGCTGATCTTGTCT GGGCT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	10/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724115	ATGGTGGT others(26): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTCG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01981.hp1 HG02293.hp1 others(1): Show HG01934.hp1 HG01981.hp1 HG02293.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0041 a0001c0001t0012 a0001c0002t0041	a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 others(1): Show a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0002t0041g0096	4	168	0.0238	-33	c.261 others(50): Show c.2611+247_2611+279delGTGGTGGTGGTGATGGTCGTGGTGGTGG TGGTG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724139	GTGATGGT others(26): Show GTGATGGTCGTGGTGGTGGTGGTGATGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0042 a0001c0005t0042	a0001c0005t0042g0157 a0001c0005t0042g0157	1	168	0.0060	-33	c.261 others(50): Show c.2611+259_2611+291delATGGTCGTGGTGGTGGTGGTGATGGTGG TGATG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724270	GATGGTGG others(26): Show GATGGTGGTGGTGGTGGTGGTGATAATGGTGACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG00639.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0061 a0001c0002t0043 a0001c0002t0061	a0001c0002t0043g0070 a0001c0002t0061g0121 a0001c0002t0043g0070 a0001c0002t0061g0121	2	168	0.0119	-33	c.261 others(50): Show c.2611+412_2611+444delATGGTGACAATGGTGGTGGTGGTGGTGG TGATA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23570931	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0044 a0001c0001t0013g0045 a0001c0001t0013g0044 a0001c0001t0013g0045	2	212	0.0094	-33	c.134 others(52): Show c.1342+4697_1342+4729delATATATATATATATATATATATATAT ATATATA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX6_chr11_15961449_16361546	16132386	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	218	0.0046	-33	c.778 others(52): Show c.778-20496_778-20464delTTCTTTCTTTCTTTCTTTTTTCTTTC TTTCTTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132390	GAAAGAAA others(26): Show GAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18960.hp1 NA18971.hp1 HG01952.hp2 NA18960.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0131 a0001c0001t0002g0172 a0001c0001t0005g0113 a0001c0001t0002g0131 a0001c0001t0002g0172 a0001c0001t0005g0113	3	218	0.0138	-33	c.778 others(52): Show c.778-20500_778-20468delTTCTTTCTTTCTTTCTTTCTTTTTTC TTTCTTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132398	GAAAAAAG others(26): Show GAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18947.hp2 NA19085.hp1 HG03239.hp2 NA18947.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0051 a0001c0001t0005g0091 a0001c0001t0008g0020 a0001c0001t0002g0051 a0001c0001t0005g0091 a0001c0001t0008g0020	3	218	0.0138	-33	c.778 others(52): Show c.778-20508_778-20476delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16132419	AAGAAAGA others(26): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0038 a0001c0001t0009g0038	1	218	0.0046	-33	c.778 others(52): Show c.778-20529_778-20497delCTTTCTTTTTTCTTTCTTTCTTTCTT TCTTTCT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SPACA7_chr13_112371355_112439689	112383116	AAAAGAAA others(26): Show AAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02622.hp1 HG02895.hp1 others(6): Show HG01496.hp2 HG02622.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03579.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0001c0001t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0298 a0001c0001t0001g0299 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0002c0002t0001g0162 a0003c0005t0001g0252	9	391	0.0230	-33	c.94+ others(48): Show c.94+6645_94+6677delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA		SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPAG16_chr2_213279464_214415501	214126025	TCCTTCCT others(26): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	86	0.0116	-33	c.159 others(54): Show c.1593+17766_1593+17798delCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCC		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	214126027	CTTCCTTC others(26): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0086 a0007c0011t0001g0086	1	86	0.0116	-33	c.159 others(54): Show c.1593+17769_1593+17801delCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG6_chr10_22340496_22422610	22346467	TTCTTCTT others(26): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	142	0.0070	-33	c.121 others(48): Show c.121+651_121+683delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT TCT		SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAG7_chr17_4954226_4972817	4955807	TTGTCTCT others(26): Show TTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG01192.hp1 others(31): Show HG00609.hp1 HG00621.hp1 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG02148.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp2 HG03834.hp1 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA19002.hp2 NA19005.hp2 NA19057.hp2 NA19060.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0018 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0068 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0005g0179 a0002c0002t0004g0010 a0002c0002t0004g0169	34	424	0.0802	-33	c.36 others(44): Show c.3694_*3726delGGGCAGAGACAGAGCAGAGACAGGGCAGAGACA		SPAG7	ENSG00000091640.8	transcript	ENST00000206020.8	protein_coding					3418		chr17	TogoVar
SPATA13_chr13_24155720_24312069	24187317	TGTCTGGC others(26): Show TGTCTGGCCTCTTTTCTGAGTAGTCCTAGCTATC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0049 a0001c0006t0049	a0001c0006t0049g0017 a0001c0006t0049g0017	1	356	0.0028	-33	c.-11 others(54): Show c.-112+26386_-112+26418delGTCTGGCCTCTTTTCTGAGTAGTC CTAGCTATC		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12						chr13	TogoVar
SPATA13_chr13_24155720_24312069	24189683	TATATATA others(26): Show TATATATAATATATAATATATTATATATAAAAGC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0019 a0001c0001t0029g0019	1	356	0.0028	-33	c.-11 others(54): Show c.-112+28809_-112+28841delTATAAAAGCATATATAATATATAA TATATTATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA18_chr4_52046304_52102299	52091580	TGCCTGGG others(26): Show TGCCTGGGTATCACCAGTGGAGGCTGCAGAGCAG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	308	0.0033	-33	c.156 others(52): Show c.1564-2946_1564-2914delGCCTGGGTATCACCAGTGGAGGCTGC AGAGCAG		SPATA18	ENSG00000163071.11	transcript	ENST00000295213.9	protein_coding	11/12						chr4	TogoVar
SPATA2L_chr16_89691357_89706705	89694814	CCCCCGCC others(26): Show CCCCCGCCCGTGCCCACGCCCTCTGCGCCCGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0055 a0001c0001t0017g0055	1	418	0.0024	-33	c.24 others(44): Show c.2487_*2519delCTGCGGGCGCAGAGGGCGTGGGCACGGGCGGGG		SPATA2L	ENSG00000158792.16	transcript	ENST00000289805.10	protein_coding					1542		chr16	TogoVar
SPATA31D3_chr9_81938500_81955093	81954064	AGAGTGGG others(26): Show AGAGTGGGTAATTTATGAAGAAAAGAGGTTTCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0024 a0004c0004t0024	a0004c0004t0024g0039 a0004c0004t0024g0039	1	380	0.0026	-33	c.60 others(44): Show c.6058_*6090delGAGTGGGTAATTTATGAAGAAAAGAGGTTTCAT		SPATA31D3	ENSG00000186788.14	transcript	ENST00000445385.3	protein_coding					3972		chr9	TogoVar
SPATA5_chr4_122918078_123324433	123017156	GAGGGAAG others(26): Show GAGGGAAGGGGAGAGGGAGAGGGGGGAGAGGGAA	G G	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	-33	c.187 others(54): Show c.1870-11024_1870-10992delAGGGGAGAGGGAGAGGGGGGAGAG GGAAAGGGA		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYA_chr2_28805834_28855610	28819836	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	338	0.0030	-33	c.294 others(48): Show c.294+732_294+764delAAAAAAAAAAAAATATATATATATATATAT ATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819842	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02083.hp2 NA18945.hp1 HG02040.hp1 HG02083.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0317 a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0317	3	338	0.0089	-33	c.294 others(48): Show c.294+738_294+770delAAAAAAATATATATATATATATATATATAT ATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819844	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG02083.hp1 others(11): Show HG00544.hp1 HG00544.hp2 HG02083.hp1 HG02273.hp1 HG02273.hp2 HG02698.hp1 HG03491.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18980.hp2 NA18990.hp2 NA18999.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(11): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0103 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0327	14	338	0.0414	-33	c.294 others(48): Show c.294+740_294+772delAAAAATATATATATATATATATATATATAT ATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819846	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00609.hp1 others(31): Show HG00280.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG01070.hp1 HG01106.hp1 HG01192.hp2 HG01243.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02132.hp1 HG02148.hp1 HG02698.hp2 HG04199.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18975.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp2 NA18999.hp2 NA19005.hp2 NA19012.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 others(31): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184	34	338	0.1006	-33	c.294 others(48): Show c.294+742_294+774delAAATATATATATATATATATATATATATAT ATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819848	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01081.hp2 others(19): Show HG00140.hp1 HG00639.hp1 HG01081.hp2 HG01255.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG01978.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG03491.hp1 HG03654.hp1 HG04199.hp1 NA18965.hp1 NA18989.hp2 NA19056.hp1 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0057 others(19): Show a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0186	22	338	0.0651	-33	c.294 others(48): Show c.294+744_294+776delATATATATATATATATATATATATATATAT ATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819850	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp1 HG02897.hp1 others(1): Show HG02572.hp1 HG02886.hp1 HG02897.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0083	4	338	0.0118	-33	c.294 others(48): Show c.294+745_294+777delTATATATATATATATATATATATATATATA TAT		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7						chr2	TogoVar
SPDYE16_chr7_76526313_76548297	76547267	AGCCCCCA others(26): Show AGCCCCCACAACTGACTCAGTGGACTCCCCTGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	255	0.0039	-33	c.-45 others(44): Show c.-4546_-4514delAACAGGGGAGTCCACTGAGTCAGTTGTGGGGGC		SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding					3971		chr7	TogoVar
SPG7_chr16_89503403_89562766	89536469	GGGTGAGG others(26): Show GGGTGAGGCGGGTGAGGTCAGGTGAGGCAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02970.hp1 others(1): Show HG02451.hp2 HG02717.hp1 HG02970.hp1 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0231 a0003c0003t0002g0232 a0003c0003t0002g0233 others(1): Show a0003c0003t0002g0231 a0003c0003t0002g0232 a0003c0003t0002g0233 a0003c0003t0002g0234	4	358	0.0112	-33	c.132 others(52): Show c.1324+3861_1324+3893delAGGTGAGGTGAGGCGGGTGAGGTCAG GTGAGGC		SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIDR_chr8_47255938_47741306	47525511	GAGGTCAC others(26): Show GAGGTCACAGCTGGGCGCGGTGGCTCACGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(50): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp2 HG02486.hp2 HG02735.hp2 HG03017.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG06807.hp1 NA18943.hp2 NA18954.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18974.hp1 NA18983.hp1 NA18998.hp2 NA19004.hp2 NA19058.hp2 NA19064.hp2 NA19066.hp1 NA19084.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0008c0010t0001 a0001c0001t0001 a0001c0001t0002 a0008c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(50): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0054 a0008c0010t0001g0213	53	216	0.2454	-33	c.109 others(54): Show c.1098-70298_1098-70266delGGTCACAGCTGGGCGCGGTGGCTC ACGCCTGTA		SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPINK4_chr9_33235167_33253567	33251886	GAGAAGGG others(26): Show GAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00621.hp2 others(46): Show HG00280.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01175.hp1 HG01175.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01978.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 NA18612.hp1 NA18950.hp1 NA18953.hp2 NA18957.hp2 NA18962.hp1 NA18980.hp2 NA18984.hp2 NA18995.hp1 NA18999.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19068.hp1 NA19075.hp1 NA19091.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0061 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0013 a0002c0002t0002g0078 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0090	49	378	0.1296	-33	c.34 others(44): Show c.3416_*3448delAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA		SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding					3320		chr9	TogoVar
SPINK5_chr5_148058980_148142382	148135772	AGAAAGTC others(26): Show AGAAAGTCTGGAATCTCAAGAATAGAATAAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0171 a0002c0002t0003g0171	1	384	0.0026	-33	c.318 others(52): Show c.3187-1210_3187-1178delGAAAGTCTGGAATCTCAAGAATAGAA TAAGAGT		SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	32/32						chr5	TogoVar
SPNS3_chr17_4428940_4493204	4473961	TCTTGGAT others(26): Show TCTTGGATAAGCCCTTTCTACCTGGCTTTCTGGG	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19043.hp1 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0014t0002 a0001c0001t0002 a0001c0014t0002	a0001c0001t0002g0327 a0001c0014t0002g0007 a0001c0001t0002g0327 a0001c0014t0002g0007	2	362	0.0055	-33	c.111 others(52): Show c.1114-4608_1114-4576delTGGATAAGCCCTTTCTACCTGGCTTT CTGGGCT		SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SPO11_chr20_57324803_57348993	57348063	GTAAGAGG others(26): Show GTAAGAGGAGTTCCATTGAAAAAGGATAAGAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	322	0.0031	-33	c.46 others(44): Show c.4604_*4636delTAAGAGGAGTTCCATTGAAAAAGGATAAGAAAA		SPO11	ENSG00000054796.13	transcript	ENST00000371263.8	protein_coding					4071		chr20	TogoVar
SPOCK3_chr4_166728384_167239494	166955504	TATATTAT others(26): Show TATATTATTAAATTATATTATATTATTAAATTTA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01261.hp1 others(25): Show HG00621.hp1 HG01109.hp1 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG02056.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02683.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA18947.hp1 NA18952.hp1 NA19030.hp1 NA19063.hp2 NA19070.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0005t0003	a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0096 others(25): Show a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0103 a0001c0001t0002g0141 a0001c0001t0003g0025 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0120 a0001c0001t0003g0133 a0001c0001t0004g0037 a0001c0001t0004g0105 a0001c0001t0012g0100 a0001c0001t0013g0062 a0001c0003t0001g0080 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0004g0074 a0001c0005t0003g0003	28	144	0.1944	-33	c.351 others(52): Show c.351-42794_351-42762delTAAATTTAATAATATAATATAATTTA ATAATAT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	4/10						chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167116716	TATATGTA others(26): Show TATATGTATATATACACACATATAGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0011 a0001c0010t0001g0011	1	144	0.0069	-33	c.190 others(52): Show c.190-54212_190-54180delGTATATATACTATATGTGTGTATATA TACATAT		SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10						chr4	TogoVar

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