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
SNTG1_chr8_49906407_50801692	50542035	C C	CATATGTA others(26): Show CATATGTATATATACATATATATATGAATGTAGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01192.hp2 others(37): Show HG00280.hp2 HG01167.hp2 HG01192.hp2 HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18944.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0020 a0001c0001t0024 a0001c0001t0033 a0001c0001t0037 a0001c0001t0046 a0001c0001t0049 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0002t0021 a0001c0002t0034 a0001c0002t0036 a0001c0002t0044 a0001c0002t0045 a0001c0002t0047 a0001c0005t0019 a0002c0003t0018 a0002c0003t0043	a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0026 others(37): Show a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0003g0007 a0001c0001t0003g0027 a0001c0001t0004g0072 a0001c0001t0004g0079 a0001c0001t0004g0090 a0001c0001t0004g0094 a0001c0001t0005g0035 a0001c0001t0006g0051 a0001c0001t0006g0066 a0001c0001t0007g0006 a0001c0001t0008g0071 a0001c0001t0008g0091 a0001c0001t0012g0049 a0001c0001t0020g0043 a0001c0001t0024g0058 a0001c0001t0033g0056 a0001c0001t0037g0034 a0001c0001t0046g0104 a0001c0001t0049g0106 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0003g0029 a0001c0002t0003g0041 a0001c0002t0006g0054 a0001c0002t0014g0014 a0001c0002t0014g0076 a0001c0002t0021g0073 a0001c0002t0034g0062 a0001c0002t0036g0016 a0001c0002t0044g0047 a0001c0002t0045g0046 a0001c0002t0047g0103 a0001c0005t0019g0044 a0002c0003t0018g0045 a0002c0003t0043g0050	40	106	0.3774	33	c.680 others(50): Show c.680+5250_680+5282dupATGAATGTAGTATATGTATATATACATA TATAT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50542061	A A	AATGTAGT others(26): Show AATGTAGTATATGTATATATACATATATATATGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01071.hp1 HG01167.hp1 others(27): Show HG00621.hp2 HG01071.hp1 HG01167.hp1 HG01884.hp1 HG01978.hp1 HG02055.hp1 HG02300.hp1 HG02451.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03942.hp1 HG04115.hp2 NA18906.hp1 NA18952.hp1 NA18968.hp2 NA18992.hp2 NA19060.hp2 NA19068.hp1 NA19085.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0032 a0001c0001t0040 a0001c0001t0048 a0001c0001t0050 a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0025 a0001c0002t0039	a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0003g0019 others(27): Show a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0004g0102 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0010g0030 a0001c0001t0013g0009 a0001c0001t0017g0057 a0001c0001t0022g0004 a0001c0001t0023g0002 a0001c0001t0030g0053 a0001c0001t0032g0052 a0001c0001t0040g0005 a0001c0001t0048g0105 a0001c0001t0050g0038 a0001c0002t0001g0082 a0001c0002t0006g0064 a0001c0002t0006g0065 a0001c0002t0010g0028 a0001c0002t0025g0089 a0001c0002t0039g0075	30	106	0.2830	33	c.680 others(50): Show c.680+5282_680+5283insATGGATGTAGTATATGTATATATACATA TATAT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50660426	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp2 HG02897.hp1 HG02055.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0009 a0001c0001t0010	a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0010g0030 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0010g0030	3	106	0.0283	33	c.103 others(52): Show c.1038+1765_1038+1766insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50701579	T T	TTTCTTCT others(26): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 HG03540.hp1 others(2): Show HG03139.hp2 HG03516.hp1 HG03540.hp1 HG04115.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0030 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0030 a0001c0001t0031	a0001c0001t0005g0018 a0001c0001t0005g0035 a0001c0001t0013g0009 others(2): Show a0001c0001t0005g0018 a0001c0001t0005g0035 a0001c0001t0013g0009 a0001c0001t0030g0053 a0001c0001t0031g0055	5	106	0.0472	33	c.103 others(52): Show c.1039-3015_1039-3014insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1056277	A A	AGCGCTGC others(26): Show AGCGCTGCGCTGTGCTGTGGGGAGGGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01256.hp1 HG01261.hp2 others(9): Show HG01169.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG02148.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02683.hp1 NA18970.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0010	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007 a0003c0008 a0006c0009 a0010c0012	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0007t0001 a0003c0008t0001 a0006c0009t0001 a0010c0012t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0002t0001g0027 a0002c0003t0001g0021 a0002c0003t0001g0026 a0003c0007t0001g0008 a0003c0008t0001g0013 a0006c0009t0001g0011 a0006c0009t0001g0121 a0010c0012t0001g0066	12	190	0.0632	33	c.73- others(50): Show c.73-27240_73-27239insCGCTGCGCTGTGCTGTGGGGAGGGAGGG AGAGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1167326	T T	TAGGCCGC others(26): Show TAGGCCGCCCACAGACGGCAGAACTGAAGCCTAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0108 a0003c0007t0001g0108	1	190	0.0053	33	c.499 others(50): Show c.499+1703_499+1735dupAGACGGCAGAACTGAAGCCTACAGGCCG CCCAC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1167623	C C	CAAGCCGC others(26): Show CAAGCCGCCCACAGACGGCAGAACTGAAGCCTAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	190	0.0053	33	c.499 others(50): Show c.499+2120_499+2152dupGAAGCCGCCCACAGACGGCAGAACTGAA GCCTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1167757	A A	AGCCGCCC others(26): Show AGCCGCCCACAGACGGCAGAACTGAAGCCTACAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0068 a0003c0007t0001g0068	1	190	0.0053	33	c.499 others(50): Show c.499+2170_499+2202dupGCAGAACTGAAGCCTACAGGCCGCCCAC AGACG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1168087	G G	GGCCGCCC others(26): Show GGCCGCCCACAGACGGCAGAACTGAAGCCTAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG03540.hp1 HG02451.hp2 HG02970.hp1 HG03540.hp1	a0003 a0014 a0019 a0003 a0014 a0019	a0003c0026 a0014c0035 a0019c0025 a0003c0026 a0014c0035 a0019c0025	a0003c0026t0001 a0014c0035t0001 a0019c0025t0001 a0003c0026t0001 a0014c0035t0001 a0019c0025t0001	a0003c0026t0001g0097 a0014c0035t0001g0071 a0019c0025t0001g0034 a0003c0026t0001g0097 a0014c0035t0001g0071 a0019c0025t0001g0034	3	190	0.0158	33	c.499 others(50): Show c.499+2470_499+2471insAACTGAAGCCTAGAAGCCGCCCACAGAC GGCAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX10_chr7_26286862_26379383	26325306	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	390	0.0026	33	c.-23 others(52): Show c.-23-21114_-23-21113insTATATATATATATATATATATATATA TATATAT	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6			chr7	TogoVar
SNX10_chr7_26286862_26379383	26358805	G G	GTTTTTGT others(26): Show GTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	390	0.0026	33	c.25- others(48): Show c.25-2165_25-2164insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX12_chrX_71054247_71073334	71071604	T T	TATATATA others(26): Show TATATATATAAATATATAATATTTATATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0010	1	309	0.0032	33	c.-32 others(44): Show c.-3299_-3298insTAATATATATAAATATTATATATTTATATATAT	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3271		chrX	TogoVar
SNX18_chr5_54512759_54551586	54513684	T T	TTATATAT others(26): Show TTATATATAATATATAAATTATATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0009	a0001c0011t0009g0051 a0001c0011t0009g0051	1	390	0.0026	33	c.-42 others(44): Show c.-4269_-4268insTATATATAATATATAAATTATATATAATATATA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4074		chr5	TogoVar
SNX18_chr5_54512759_54551586	54513684	T T	TTATATAT others(26): Show TTATATATAATATATATATTATATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00609.hp1 others(67): Show HG00423.hp1 HG00558.hp2 HG00609.hp1 HG01099.hp2 HG01978.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp2 HG02572.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19076.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0014 a0002c0017 others(1): Show a0001c0001 a0001c0014 a0002c0017 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0021 a0001c0001t0027 a0001c0001t0034 a0001c0001t0036 a0001c0014t0002 a0002c0017t0027 a0005c0010t0003	a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0001g0078 others(40): Show a0001c0001t0001g0035 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0055 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0082 a0001c0001t0003g0091 a0001c0001t0003g0101 a0001c0001t0015g0001 a0001c0001t0015g0061 a0001c0001t0015g0093 a0001c0001t0021g0001 a0001c0001t0021g0016 a0001c0001t0021g0088 a0001c0001t0027g0095 a0001c0001t0034g0001 a0001c0001t0036g0018 a0001c0014t0002g0017 a0002c0017t0027g0016 a0005c0010t0003g0001	70	390	0.1795	33	c.-42 others(44): Show c.-4269_-4268insTATATATAATATATATATTATATATAATATATA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4074		chr5	TogoVar
SNX18_chr5_54512759_54551586	54513720	T T	TTATATAT others(26): Show TTATATATAATATATAAATTATATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG01515.hp1 others(9): Show HG00558.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG04228.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0002 a0001c0001t0029 a0001c0003t0006 others(6): Show a0001c0001t0002 a0001c0001t0029 a0001c0003t0006 a0001c0003t0009 a0001c0003t0014 a0001c0003t0019 a0001c0003t0023 a0001c0003t0026 a0001c0015t0010	a0001c0001t0002g0001 a0001c0001t0029g0073 a0001c0003t0006g0086 others(7): Show a0001c0001t0002g0001 a0001c0001t0029g0073 a0001c0003t0006g0086 a0001c0003t0009g0084 a0001c0003t0014g0024 a0001c0003t0019g0024 a0001c0003t0019g0089 a0001c0003t0023g0085 a0001c0003t0026g0033 a0001c0015t0010g0103	12	390	0.0308	33	c.-42 others(44): Show c.-4233_-4232insTATATATAATATATAAATTATATATAATATATA	SNX18	ENSG00000178996.14	transcript	ENST00000381410.5	protein_coding		4038		chr5	TogoVar
SNX19_chr11_130861250_130921479	130862944	C C	CCAGTCTC others(26): Show CCAGTCTCTTGCACCCAGCTGCAAGAGAAGACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA18522.hp1 HG02280.hp1 NA18522.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0116 a0004c0008t0117 a0004c0008t0116 a0004c0008t0117	a0004c0008t0116g0288 a0004c0008t0117g0289 a0004c0008t0116g0288 a0004c0008t0117g0289	2	414	0.0048	33	c.15 others(46): Show c.15477_*15478insAAGTCTTCTCTTGCAGCTGGGTGCAAGAGACT G	SNX19	ENSG00000120451.11	transcript	ENST00000265909.9	protein_coding		3305		chr11	TogoVar
SNX7_chr1_98656721_98765500	98763441	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	378	0.0027	33	c.33 others(44): Show c.3310_*3311insTATATATATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2942		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	378	0.0027	33	c.33 others(44): Show c.3312_*3313insAATATATATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763443	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG03579.hp2 HG01069.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0317 a0001c0001t0001g0001 a0001c0001t0001g0317	2	378	0.0053	33	c.33 others(44): Show c.3312_*3313insTATATATATATATATATATATATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2944		chr1	TogoVar
SNX8_chr7_2246770_2319441	2278987	G G	GACTCACT others(26): Show GACTCACTCACACTACGGAGTCGACGCCGGACTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00558.hp2 others(72): Show HG00099.hp1 HG00280.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01257.hp2 HG01346.hp2 HG01891.hp2 HG01934.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18947.hp1 NA18955.hp1 NA18959.hp2 NA18966.hp1 NA18971.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18991.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19065.hp2 NA19070.hp2 NA19082.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0001c0003 a0002c0004 others(3): Show a0001c0001 a0001c0003 a0002c0004 a0003c0007 a0006c0009 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0043 a0001c0001t0044 a0001c0003t0002 a0002c0004t0008 a0003c0007t0012 a0006c0009t0012 a0009c0017t0002	a0001c0001t0001g0146 a0001c0001t0002g0017 a0001c0001t0002g0018 others(71): Show a0001c0001t0001g0146 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0180 a0001c0001t0002g0191 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0268 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0343 a0001c0001t0008g0001 a0001c0001t0008g0048 a0001c0001t0008g0096 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0008g0125 a0001c0001t0008g0162 a0001c0001t0008g0170 a0001c0001t0009g0021 a0001c0001t0009g0081 a0001c0001t0009g0108 a0001c0001t0009g0111 a0001c0001t0009g0130 a0001c0001t0009g0148 a0001c0001t0009g0149 a0001c0001t0009g0202 a0001c0001t0009g0312 a0001c0001t0019g0069 a0001c0001t0019g0225 a0001c0001t0019g0226 a0001c0001t0021g0351 a0001c0001t0024g0099 a0001c0001t0024g0101 a0001c0001t0026g0201 a0001c0001t0026g0216 a0001c0001t0043g0251 a0001c0001t0044g0094 a0001c0003t0002g0064 a0002c0004t0008g0365 a0003c0007t0012g0009 a0003c0007t0012g0039 a0003c0007t0012g0092 a0003c0007t0012g0131 a0003c0007t0012g0133 a0006c0009t0012g0357 a0006c0009t0012g0368 a0009c0017t0002g0327	75	370	0.2027	33	c.95- others(46): Show c.95-683_95-682insGAGTCCGGCGTCGACTCCGTAGTGTGAGTGAG T	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(26): Show GTTTTTTTGTTTTTTTGTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	302	0.0033	33	c.12+ others(50): Show c.12+21148_12+21149insGTTTTTTTGTTTTTTTGTTTTTTTTTTT TTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(26): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18975.hp1 NA18939.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0002 a0002c0002t0002g0004	2	302	0.0066	33	c.12+ others(50): Show c.12+21148_12+21149insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01928.hp1 HG01346.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0025 a0002c0002t0002g0026	2	302	0.0066	33	c.949 others(50): Show c.949+5616_949+5617insAAAAAAAAAAAAAAATATATATATATAT ATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 NA18941.hp2 HG00733.hp2 HG00735.hp1 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0016 a0002c0002t0008g0022 a0002c0002t0008g0024 a0002c0002t0002g0016 a0002c0002t0008g0022 a0002c0002t0008g0024	3	302	0.0099	33	c.949 others(50): Show c.949+5616_949+5617insAAAAAAAAAAAAATATATATATATATAT ATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	302	0.0033	33	c.949 others(50): Show c.949+5616_949+5617insAAAAAAAAATATATATATATATATATAT ATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	394	0.0025	33	c.-90 others(50): Show c.-90-1143_-90-1142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS6_chr18_70284045_70335199	70324302	A A	AAATAATA others(26): Show AAATAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	358	0.0028	33	c.-12 others(50): Show c.-126-218_-126-217insTAATAATAATAATAATAATAATAATAAT AATAA	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr18	TogoVar
SOGA1_chr20_36772447_36868538	36826326	T T	TCCCCCCC others(26): Show TCCCCCCCTCCCTCCCCCTCCCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0009 a0002c0020t0009	a0002c0020t0009g0063 a0002c0020t0009g0063	1	282	0.0036	33	c.107 others(52): Show c.1071+2727_1071+2728insGAGGGGGAGGGGGGGAGGGGGAGGGA GGGGGGG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14			chr20	TogoVar
SORBS1_chr10_95306773_95566371	95332990	C C	CCCAAAAT others(26): Show CCCAAAATATATTTTTTTGACATATTTTGACATG	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+3498_3639+3530dupCATGTCAAAATATGTCAAAAAAATAT ATTTTGG	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	30/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95467886	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0007 a0003c0010t0007	a0003c0010t0007g0201 a0003c0010t0007g0201	1	300	0.0033	33	c.-46 others(52): Show c.-46+23148_-46+23149insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185751172	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0079 a0001c0001t0046g0079	1	312	0.0032	33	c.-96 others(52): Show c.-96-17019_-96-17018insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORBS2_chr4_185580523_185817194	185751190	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	312	0.0032	33	c.-96 others(52): Show c.-96-17037_-96-17036insCTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	2/26			chr4	TogoVar
SORCS2_chr4_7187538_7747827	7421911	T T	TGGGGCGG others(26): Show TGGGGCGGGCTTGCAGGAGAGGGAGGGCAGGGGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01192.hp2 HG01952.hp1 others(3): Show HG00438.hp1 HG01192.hp2 HG01952.hp1 HG01981.hp2 NA18966.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0002t0010 a0002c0004t0012	a0001c0001t0003g0053 a0001c0001t0003g0098 a0001c0001t0006g0111 others(3): Show a0001c0001t0003g0053 a0001c0001t0003g0098 a0001c0001t0006g0111 a0001c0002t0002g0062 a0001c0002t0010g0045 a0002c0004t0012g0035	6	168	0.0357	33	c.548 others(52): Show c.548+25564_548+25565insCTTGCAGGAGAGGGAGGGCAGGGGCG GGGCGGG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724480	G G	GTGGTGAT others(26): Show GTGGTGATGGTGGTGGTGATGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 HG03540.hp2 others(1): Show HG02615.hp1 HG02922.hp1 HG03540.hp2 NA19043.hp2	a0001 a0006 a0017 a0001 a0006 a0017	a0001c0005 a0001c0009 a0006c0022 others(1): Show a0001c0005 a0001c0009 a0006c0022 a0017c0054	a0001c0005t0007 a0001c0009t0051 a0006c0022t0039 others(1): Show a0001c0005t0007 a0001c0009t0051 a0006c0022t0039 a0017c0054t0022	a0001c0005t0007g0065 a0001c0009t0051g0042 a0006c0022t0039g0153 others(1): Show a0001c0005t0007g0065 a0001c0009t0051g0042 a0006c0022t0039g0153 a0017c0054t0022g0113	4	168	0.0238	33	c.261 others(50): Show c.2611+599_2611+600insGTGATGGTGGTGGTGATGGTGATGGTGG TGATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORL1_chr11_121447314_121638763	121547417	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19077.hp1 NA18974.hp2 NA19077.hp1	a0002 a0002	a0002c0005 a0002c0007 a0002c0005 a0002c0007	a0002c0005t0001 a0002c0007t0001 a0002c0005t0001 a0002c0007t0001	a0002c0005t0001g0074 a0002c0007t0001g0060 a0002c0005t0001g0074 a0002c0007t0001g0060	2	272	0.0074	33	c.205 others(52): Show c.2051+2016_2051+2017insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr11	TogoVar
SOS2_chr14_50112130_50236578	50122391	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03209.hp2 HG02622.hp1 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0113 a0001c0003t0001g0114	2	382	0.0052	33	c.338 others(52): Show c.3380-2008_3380-2007insAAAAAAAAAAAAAAAAAAGAAAAAAA AAAAAAA	SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	21/22			chr14	TogoVar
SOWAHA_chr5_132808302_132821786	132813036	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	404	0.0025	33	c.-58 others(42): Show c.-586_-585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SOWAHA	ENSG00000198944.6	transcript	ENST00000378693.4	protein_coding		265		chr5	TogoVar
SOX5_chr12_23524504_23954670	23603445	A A	AATATATA others(26): Show AATATATATATATATATATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0173 a0001c0001t0010g0173	1	212	0.0047	33	c.116 others(50): Show c.1164+941_1164+942insATATATATTTTATATATATATATATATA TATAT	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14			chr12	TogoVar
SOX5_chr12_23524504_23954670	23674336	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0199 a0001c0001t0016g0199	1	212	0.0047	33	c.811 others(50): Show c.811-8773_811-8772insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14			chr12	TogoVar
SP140L_chr2_230322193_230408732	230354881	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03017.hp1 HG03239.hp2 others(2): Show HG02080.hp1 HG03017.hp1 HG03239.hp2 NA18963.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0001t0001g0140	5	336	0.0149	33	c.108 others(50): Show c.108-2908_108-2907insAAAGAAAGAAAGAAAGAAAAGAAAGAAA GAAAG	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPACA5_chrX_48001988_48014733	48013051	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTTCTTTCTTTCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	292	0.0034	33	c.34 others(44): Show c.3406_*3407insCTTTCTTTCTTTCTTTTCTTTCTTTCTTCCTTC	SPACA5	ENSG00000171489.11	transcript	ENST00000376940.4	protein_coding		3319		chrX	TogoVar
SPAG16_chr2_213279464_214415501	214321859	C C	CACTTGTC others(26): Show CACTTGTCCTTAAGGTTAAACCTGTGTTTTGTTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0050 a0003c0003t0001g0050	1	86	0.0116	33	c.172 others(54): Show c.1721-88279_1721-88247dupCTTGTCCTTAAGGTTAAACCTGTG TTTTGTTGA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG4_chr20_35610829_35626094	35615424	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	33	c.-58 others(42): Show c.-580_-579insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		404		chr20	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	330	0.0030	33	c.-18 others(44): Show c.-1805_-1804insATATATATATATATATATATATATTTTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	33	c.-18 others(44): Show c.-1805_-1804insATATATATATATATATATATATATATTTTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	330	0.0030	33	c.-18 others(44): Show c.-1805_-1804insATATATATATATATATATATATATATATTTTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA20129.hp1 NA19009.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0148 a0001c0001t0001g0004 a0001c0001t0001g0148	2	330	0.0061	33	c.-18 others(44): Show c.-1805_-1804insATATATATATATATATATATATATATATATTTT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG5_chr17_28572574_28604025	28600750	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG03225.hp1 NA19010.hp1 HG00609.hp2 HG03225.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	330	0.0091	33	c.-18 others(44): Show c.-1805_-1804insATATATATATATATATATATATATATATATATT	SPAG5	ENSG00000076382.17	transcript	ENST00000321765.10	protein_coding		1726		chr17	TogoVar
SPAG9_chr17_50957174_51125868	51037691	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA20300.hp1 NA18947.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0259 a0001c0005t0001g0241 a0001c0001t0001g0259 a0001c0005t0001g0241	2	292	0.0069	33	c.741 others(50): Show c.741+3809_741+3810insTATATATATATATATATATATATATATA TATAT	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	5/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51053899	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	292	0.0034	33	c.495 others(50): Show c.495+2512_495+2513insATATATATATATATATATATATATATAT ATATA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	3/29			chr17	TogoVar

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