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
TSPAN4_chr11_837852_872111	859320	TTCACACG others(10): Show TTCACACGCACCCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00597.hp2 others(66): Show HG00408.hp1 HG00423.hp1 HG00597.hp2 HG00673.hp1 HG01071.hp1 HG01081.hp2 HG01192.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18970.hp1 NA18973.hp1 NA18979.hp2 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19063.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0012 a0001c0013 others(1): Show a0001c0001 a0001c0012 a0001c0013 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0012t0001 a0001c0013t0001 a0004c0011t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(54): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0151 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0001g0225 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0002g0187 a0001c0001t0002g0301 a0001c0001t0002g0307 a0001c0001t0007g0240 a0001c0001t0010g0237 a0001c0012t0001g0039 a0001c0013t0001g0245 a0004c0011t0001g0239	69	394	0.1751	-17	c.64- others(32): Show c.64-3199_64-3183delGGGCTCACACGCACCCC		TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN4_chr11_837852_872111	859419	CTCTCACA others(10): Show CTCTCACACGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03209.hp1 HG03453.hp2 HG02055.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161	3	394	0.0076	-17	c.64- others(32): Show c.64-3130_64-3114delTCTCACACGCACCCCGG		TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	3/8						chr11	TogoVar
TSPAN4_chr11_837852_872111	859451	CCTCACAC others(10): Show CCTCACACGCACCCCGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(53): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01192.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01981.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp1 HG02965.hp2 HG03453.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18939.hp1 NA18941.hp1 NA18946.hp2 NA18950.hp1 NA18959.hp2 NA18961.hp2 NA18978.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19043.hp2 NA19066.hp2 NA19067.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0010t0002	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0019 others(45): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0190 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0265 a0001c0001t0001g0291 a0001c0001t0002g0024 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0307 a0001c0001t0003g0024 a0001c0001t0003g0158 a0001c0001t0004g0028 a0001c0001t0008g0045 a0001c0010t0002g0049	56	394	0.1421	-17	c.64- others(32): Show c.64-3050_64-3034delGGGCTCACACGCACCCC		TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
TSPAN4_chr11_837852_872111	867466	CGTGGTGG others(10): Show CGTGGTGGCGGGCGCCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	394	0.0025	-17	c.83 others(26): Show c.837_*853delGTGGTGGCGGGCGCCTG		TSPAN4	ENSG00000214063.12	transcript	ENST00000397397.7	protein_coding					356		chr11	TogoVar
TSPAN7_chrX_38556542_38693918	38572055	TTGTCAAA others(10): Show TTGTCAAAGACAAACCTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG02055.hp1 others(26): Show HG01255.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(26): Show a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0002g0028 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0002t0001g0068 a0001c0002t0001g0074 a0001c0002t0001g0092 a0001c0003t0001g0066 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0215	29	223	0.1300	-17	c.81+ others(34): Show c.81+10438_81+10454delCAAACCTCTGTCAAAGA		TSPAN7	ENSG00000156298.13	transcript	ENST00000378482.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
TSPAN9_chr12_3072379_3291559	3235218	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	288	0.0035	-17	c.63+ others(34): Show c.63+33963_63+33979delTATATATATATATATAT		TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8						chr12	TogoVar
TSPO2_chr6_41037467_41049337	41041325	TCCACCCT others(10): Show TCCACCCTCCTCCCAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	360	0.0028	-17	c.-14 others(28): Show c.-1473_-1457delCCACCCTCCTCCCAGCC		TSPO2	ENSG00000112212.12	transcript	ENST00000373161.6	protein_coding					1141		chr6	TogoVar
TSSC4_chr11_2395750_2408876	2405222	GGGACTAG others(10): Show GGGACTAGGAAAGCAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0001 a0006c0006t0001g0001	1	436	0.0023	-17	c.16 others(28): Show c.1600_*1616delGGACTAGGAAAGCAGCC		TSSC4	ENSG00000184281.15	transcript	ENST00000333256.11	protein_coding					1347		chr11	TogoVar
TSSK3_chr1_32357539_32369312	32360891	TAGATGAT others(10): Show TAGATGATAGATAGATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	292	0.0034	-17	c.-18 others(28): Show c.-1810_-1794delAGATGATAGATAGATAA		TSSK3	ENSG00000162526.7	transcript	ENST00000373534.4	protein_coding					1647		chr1	TogoVar
TTBK2_chr15_42733730_42925778	42763184	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0203 a0001c0001t0042g0203	1	248	0.0040	-17	c.199 others(36): Show c.1999-9954_1999-9938delAAAAAAAAATATATATA		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14						chr15	TogoVar
TTBK2_chr15_42733730_42925778	42763186	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0028 a0001c0005t0001g0028	1	248	0.0040	-17	c.199 others(36): Show c.1999-9956_1999-9940delAAAAAAAAAAATATATA		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14						chr15	TogoVar
TTBK2_chr15_42733730_42925778	42763192	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp1 HG03540.hp2 HG02809.hp1 HG03209.hp1 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0011 a0003c0003 a0003c0011	a0003c0003t0012 a0003c0011t0012 a0003c0003t0012 a0003c0011t0012	a0003c0003t0012g0171 a0003c0003t0012g0173 a0003c0011t0012g0172 a0003c0003t0012g0171 a0003c0003t0012g0173 a0003c0011t0012g0172	3	248	0.0121	-17	c.199 others(36): Show c.1999-9962_1999-9946delAAAAAAAAAAAAAAAAA		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14						chr15	TogoVar
TTBK2_chr15_42733730_42925778	42764924	AGCAATAT others(10): Show AGCAATATTTGCTGTTCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0203 a0001c0001t0042g0203	1	248	0.0040	-17	c.199 others(38): Show c.1998+10194_1998+10210delAGAACAGCAAATATTGC		TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	13/14						chr15	TogoVar
TTC23L_chr5_34834164_34905511	34858211	TCCTTGGC others(10): Show TCCTTGGCTTGGGAGGGC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	392	0.0026	-17	c.380 others(34): Show c.380-4686_380-4670delCCTTGGCTTGGGAGGGC		TTC23L	ENSG00000205838.15	transcript	ENST00000505624.6	protein_coding	4/10						chr5	TogoVar
TTC23_chr15_99131323_99254581	99146748	AAGGGATA others(10): Show AAGGGATAGCAAACATGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0095 a0001c0001t0019g0095	1	368	0.0027	-17	c.114 others(36): Show c.1144-7366_1144-7350delCCATGTTTGCTATCCCT		TTC23	ENSG00000103852.13	transcript	ENST00000394132.7	protein_coding	12/13						chr15	TogoVar
TTC27_chr2_32623050_32826051	32706077	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp2 others(45): Show HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG01106.hp1 HG01175.hp2 HG01952.hp1 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG03516.hp2 NA18939.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18964.hp1 NA18971.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp1 NA19000.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0002c0003t0004 a0003c0004t0001 a0001c0001t0001 a0002c0003t0004 a0003c0004t0001	a0001c0001t0001g0127 a0001c0001t0001g0155 a0001c0001t0001g0204 others(45): Show a0001c0001t0001g0127 a0001c0001t0001g0155 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0217 a0002c0003t0004g0311 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0039 a0003c0004t0001g0040 a0003c0004t0001g0041 a0003c0004t0001g0042 a0003c0004t0001g0043 a0003c0004t0001g0093 a0003c0004t0001g0095 a0003c0004t0001g0100 a0003c0004t0001g0111 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0117 a0003c0004t0001g0122 a0003c0004t0001g0128 a0003c0004t0001g0129 a0003c0004t0001g0130 a0003c0004t0001g0131 a0003c0004t0001g0132 a0003c0004t0001g0176 a0003c0004t0001g0183 a0003c0004t0001g0189 a0003c0004t0001g0190 a0003c0004t0001g0205 a0003c0004t0001g0209 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0263 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0268 a0003c0004t0001g0269 a0003c0004t0001g0299 a0003c0004t0001g0309 a0003c0004t0001g0323	48	324	0.1482	-17	c.123 others(36): Show c.1233+3166_1233+3182delTTTTTTTTTTTTTTTTT		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32745054	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	324	0.0031	-17	c.145 others(36): Show c.1452+8249_1452+8265delAAAAAAAAAAAAAAAAA		TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	12/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC28_chr22_27973014_28684840	28032173	TATATATA others(10): Show TATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG06807.hp2 NA19240.hp2 HG02280.hp1 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0062 a0001c0001t0008 a0001c0001t0062	a0001c0001t0008g0045 a0001c0001t0008g0145 a0001c0001t0062g0144 a0001c0001t0008g0045 a0001c0001t0008g0145 a0001c0001t0062g0144	3	196	0.0153	-17	c.393 others(36): Show c.3933-1824_3933-1808delTTTATATATATATATAT		TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	12/22						chr22	TogoVar
TTC28_chr22_27973014_28684840	28032190	AATATATA others(10): Show AATATATATATATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19030.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0007 a0001c0001t0017 a0001c0002t0007	a0001c0001t0017g0057 a0001c0002t0007g0110 a0001c0001t0017g0057 a0001c0002t0007g0110	2	196	0.0102	-17	c.393 others(36): Show c.3933-1841_3933-1825delATTTTATATATATATAT		TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	12/22						chr22	TogoVar
TTC28_chr22_27973014_28684840	28032205	AATATATA others(10): Show AATATATATATATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03704.hp1 HG03130.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0004t0001 a0001c0001t0008 a0001c0004t0001	a0001c0001t0008g0189 a0001c0004t0001g0063 a0001c0001t0008g0189 a0001c0004t0001g0063	2	196	0.0102	-17	c.393 others(36): Show c.3933-1856_3933-1840delATTTTATATATATATAT		TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	12/22						chr22	TogoVar
TTC29_chr4_146701617_146950864	146703001	AATGATCA others(10): Show AATGATCACATATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA19076.hp2 NA18957.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0291 a0001c0001t0001g0278 a0001c0001t0001g0291	2	292	0.0069	-17	c.41 others(28): Show c.4140_*4156delATATAATATGTGATCAT		TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding					3615		chr4	TogoVar
TTC29_chr4_146701617_146950864	146708307	TTTATATA others(10): Show TTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	292	0.0034	-17	c.133 others(34): Show c.1331-773_1331-757delTATATATATATATATAA		TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding	11/12						chr4	TogoVar
TTC29_chr4_146701617_146950864	146946925	TGTGTGAA others(10): Show TGTGTGAATTCTTTTCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG02004.hp1 others(8): Show HG01928.hp1 HG01934.hp1 HG02004.hp1 NA18942.hp1 NA18955.hp1 NA18970.hp1 NA18971.hp1 NA18992.hp1 NA18999.hp1 NA19074.hp1 NA19091.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 others(8): Show a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0111	11	292	0.0377	-17	c.-12 others(28): Show c.-1287_-1271delTGGAAAAGAATTCACAC		TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding					1062		chr4	TogoVar
TTC39B_chr9_15158622_15312216	15167005	TATATATA others(10): Show TATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02622.hp2 NA18522.hp2 HG02109.hp1 HG02622.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0211 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0211	3	262	0.0115	-17	c.49 others(28): Show c.4997_*5013delTATATATATATATATAT		TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	20/20				4997		chr9	TogoVar
TTC39B_chr9_15158622_15312216	15167011	TATATATA others(10): Show TATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0134 a0006c0010t0134	a0006c0010t0134g0182 a0006c0010t0134g0182	1	262	0.0038	-17	c.49 others(28): Show c.4991_*5007delTATATATATATATATAT		TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	20/20				4991		chr9	TogoVar
TTC39B_chr9_15158622_15312216	15300891	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG00741.hp1 others(41): Show HG00099.hp2 HG00621.hp1 HG00741.hp1 HG01346.hp2 HG01891.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp2 NA18968.hp2 NA18973.hp1 NA18992.hp1 NA19030.hp2 NA19081.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(37): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0049 a0001c0001t0062 a0001c0001t0074 a0001c0001t0079 a0001c0001t0097 a0001c0001t0103 a0001c0001t0108 a0001c0001t0111 a0001c0001t0113 a0001c0001t0133 a0001c0001t0148 a0001c0001t0160 a0001c0004t0164 a0001c0004t0165 a0001c0006t0172 a0001c0006t0173 a0002c0002t0014 a0002c0002t0034 a0002c0002t0037 a0002c0002t0039 a0002c0002t0043 a0002c0002t0186 a0002c0002t0197 a0002c0002t0198 a0002c0002t0199 a0002c0002t0202 a0002c0002t0203 a0002c0002t0204 a0003c0003t0027 a0003c0003t0161	a0001c0001t0003g0153 a0001c0001t0004g0060 a0001c0001t0007g0160 others(41): Show a0001c0001t0003g0153 a0001c0001t0004g0060 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0008g0155 a0001c0001t0009g0144 a0001c0001t0009g0157 a0001c0001t0010g0174 a0001c0001t0011g0152 a0001c0001t0018g0137 a0001c0001t0019g0135 a0001c0001t0023g0138 a0001c0001t0049g0142 a0001c0001t0062g0159 a0001c0001t0074g0148 a0001c0001t0079g0166 a0001c0001t0097g0151 a0001c0001t0103g0147 a0001c0001t0108g0183 a0001c0001t0111g0143 a0001c0001t0113g0134 a0001c0001t0133g0179 a0001c0001t0148g0162 a0001c0001t0160g0156 a0001c0004t0164g0139 a0001c0004t0165g0140 a0001c0006t0172g0168 a0001c0006t0173g0185 a0002c0002t0014g0150 a0002c0002t0014g0178 a0002c0002t0034g0171 a0002c0002t0037g0172 a0002c0002t0039g0149 a0002c0002t0043g0158 a0002c0002t0186g0173 a0002c0002t0197g0146 a0002c0002t0198g0145 a0002c0002t0199g0170 a0002c0002t0202g0167 a0002c0002t0203g0177 a0002c0002t0204g0059 a0003c0003t0027g0141 a0003c0003t0027g0169 a0003c0003t0161g0154	44	262	0.1679	-17	c.42+ others(32): Show c.42+6176_42+6192delTTTTTTTTTTTTTTTTT		TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	1/19						chr9	TogoVar
TTC39C_chr18_24009754_24140600	24045908	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02165.hp1 HG02717.hp2 others(13): Show HG01943.hp2 HG02165.hp1 HG02717.hp2 HG02735.hp2 HG03486.hp2 HG03688.hp2 HG03710.hp2 NA18971.hp2 NA18974.hp1 NA18978.hp2 NA18998.hp1 NA19056.hp1 NA19056.hp2 NA19064.hp2 NA19077.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0026 a0001c0001t0030	a0001c0001t0001g0067 a0001c0001t0001g0282 a0001c0001t0001g0324 others(13): Show a0001c0001t0001g0067 a0001c0001t0001g0282 a0001c0001t0001g0324 a0001c0001t0002g0182 a0001c0001t0003g0269 a0001c0001t0003g0303 a0001c0001t0004g0173 a0001c0001t0008g0287 a0001c0001t0009g0058 a0001c0001t0011g0061 a0001c0001t0015g0080 a0001c0001t0015g0271 a0001c0001t0017g0160 a0001c0001t0021g0122 a0001c0001t0026g0127 a0001c0001t0030g0126	16	328	0.0488	-17	c.168 others(36): Show c.168-18231_168-18215delATATATATATATATATA		TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13						chr18	TogoVar
TTC39C_chr18_24009754_24140600	24045910	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00673.hp2 others(50): Show HG00544.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01109.hp1 HG01169.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01934.hp2 HG01975.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02698.hp2 HG03239.hp2 HG03654.hp1 HG03688.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18971.hp1 NA18972.hp1 NA18981.hp1 NA18986.hp2 NA18990.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19058.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0046 a0001c0001t0056 a0001c0001t0059 a0001c0001t0063 a0001c0001t0067 a0001c0001t0070	a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0084 others(50): Show a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0240 a0001c0001t0001g0256 a0001c0001t0001g0300 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0108 a0001c0001t0002g0177 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0325 a0001c0001t0003g0286 a0001c0001t0004g0096 a0001c0001t0004g0136 a0001c0001t0004g0150 a0001c0001t0004g0241 a0001c0001t0005g0207 a0001c0001t0005g0233 a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0006g0239 a0001c0001t0007g0040 a0001c0001t0008g0068 a0001c0001t0008g0088 a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0008g0206 a0001c0001t0017g0293 a0001c0001t0019g0195 a0001c0001t0021g0308 a0001c0001t0022g0143 a0001c0001t0022g0228 a0001c0001t0027g0232 a0001c0001t0027g0235 a0001c0001t0028g0149 a0001c0001t0031g0144 a0001c0001t0032g0033 a0001c0001t0032g0039 a0001c0001t0036g0032 a0001c0001t0046g0172 a0001c0001t0056g0125 a0001c0001t0059g0069 a0001c0001t0063g0243 a0001c0001t0067g0215 a0001c0001t0070g0009	53	328	0.1616	-17	c.168 others(36): Show c.168-18229_168-18213delATATATATATATATATA		TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13						chr18	TogoVar
TTC39C_chr18_24009754_24140600	24045911	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG01346.hp1 others(5): Show HG01106.hp2 HG01123.hp1 HG01346.hp1 HG01978.hp1 HG04115.hp1 NA18962.hp1 NA19081.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016	a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0002g0072 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0002g0072 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0008g0261 a0001c0001t0009g0047 a0001c0001t0016g0112	8	328	0.0244	-17	c.168 others(36): Show c.168-18227_168-18211delATATATATATATATATT		TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC39C_chr18_24009754_24140600	24045915	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0166 a0001c0001t0016g0166	1	328	0.0031	-17	c.168 others(36): Show c.168-18223_168-18207delATATATATATATTTTTT		TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC39C_chr18_24009754_24140600	24045919	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0027 a0001c0001t0018g0027	1	328	0.0031	-17	c.168 others(36): Show c.168-18219_168-18203delATATATATTTTTTTTTT		TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC6_chr14_37590629_37847717	37651417	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0101 a0004c0004t0003g0101	1	220	0.0046	-17	c.939 others(36): Show c.939+28416_939+28432delATATATATTTTTTTTTT		TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	3/32					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC6_chr14_37590629_37847717	37651421	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0144 a0001c0034t0001g0144	1	220	0.0046	-17	c.939 others(36): Show c.939+28420_939+28436delATATTTTTTTTTTTTTT		TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	3/32					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC6_chr14_37590629_37847717	37741273	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0206 a0006c0010t0002g0206	1	220	0.0046	-17	c.236 others(36): Show c.2363+2140_2363+2156delTTTTTTTTTTTTTTTTT		TTC6	ENSG00000139865.17	transcript	ENST00000553443.6	protein_coding	12/32					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTC7B_chr14_90519564_90821430	90573528	TCTCTCAG others(10): Show TCTCTCAGCTCACGGTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0076 a0001c0001t0034g0076	1	200	0.0050	-17	c.231 others(36): Show c.2310+4561_2310+4577delGGACCGTGAGCTGAGAG		TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	19/19						chr14	TogoVar
TTC9C_chr11_62723486_62743636	62740400	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG00741.hp2 others(46): Show HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02135.hp2 HG02293.hp2 HG02300.hp2 HG02647.hp1 HG02683.hp1 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19089.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0009 a0001c0003t0001g0010 others(27): Show a0001c0003t0001g0005 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0016 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0003t0001g0043 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0161	49	368	0.1332	-17	c.20 others(28): Show c.2019_*2035delAAAAAAAAAAAAAAAAA		TTC9C	ENSG00000162222.14	transcript	ENST00000316461.9	protein_coding					1765		chr11	TogoVar
TTC9_chr14_70636916_70680366	70654587	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(86): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01081.hp2 HG01106.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02615.hp2 HG02738.hp1 HG02976.hp1 HG03017.hp2 HG03453.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0001c0001t0063 a0001c0001t0081 a0001c0001t0103 a0001c0003t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0009 a0003c0004t0004 a0003c0004t0007 a0003c0004t0008 a0003c0004t0035 a0003c0004t0090	a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0305 others(77): Show a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0320 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0363 a0001c0001t0002g0039 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0330 a0001c0001t0002g0335 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0353 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0321 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0345 a0001c0001t0005g0236 a0001c0001t0006g0004 a0001c0001t0006g0243 a0001c0001t0006g0349 a0001c0001t0009g0306 a0001c0001t0009g0327 a0001c0001t0010g0315 a0001c0001t0011g0235 a0001c0001t0011g0311 a0001c0001t0016g0008 a0001c0001t0018g0063 a0001c0001t0020g0242 a0001c0001t0020g0337 a0001c0001t0024g0240 a0001c0001t0024g0241 a0001c0001t0030g0244 a0001c0001t0034g0313 a0001c0001t0036g0304 a0001c0001t0063g0312 a0001c0001t0081g0310 a0001c0001t0103g0372 a0001c0003t0001g0115 a0001c0007t0001g0361 a0001c0007t0001g0362 a0002c0002t0001g0118 a0002c0002t0001g0140 a0002c0002t0001g0196 a0002c0002t0009g0195 a0003c0004t0004g0011 a0003c0004t0004g0012 a0003c0004t0004g0324 a0003c0004t0004g0326 a0003c0004t0004g0329 a0003c0004t0004g0336 a0003c0004t0004g0346 a0003c0004t0004g0347 a0003c0004t0004g0358 a0003c0004t0007g0012 a0003c0004t0007g0245 a0003c0004t0008g0314 a0003c0004t0035g0370 a0003c0004t0090g0371	89	446	0.1996	-17	c.406 others(36): Show c.406+12071_406+12087delAAAAAAAAAAAAAAAAA		TTC9	ENSG00000133985.3	transcript	ENST00000256367.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTF1_chr9_132370548_132411840	132378264	GTGCATGT others(10): Show GTGCATGTGGTGTGTGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp2 HG02451.hp1 HG03453.hp2	a0004 a0010 a0004 a0010	a0004c0004 a0010c0017 a0004c0004 a0010c0017	a0004c0004t0002 a0010c0017t0001 a0004c0004t0002 a0010c0017t0001	a0004c0004t0002g0106 a0010c0017t0001g0161 a0004c0004t0002g0106 a0010c0017t0001g0161	2	400	0.0050	-17	c.246 others(34): Show c.2464+778_2464+794delTTCACACACCACATGCA		TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10						chr9	TogoVar
TTF1_chr9_132370548_132411840	132378421	GTGCATGT others(10): Show GTGCATGTGGTGTGTGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00735.hp2 others(94): Show HG00280.hp2 HG00609.hp1 HG00735.hp2 HG01099.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01433.hp1 HG01952.hp2 HG01978.hp1 HG02056.hp1 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG04204.hp1 HG04228.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0001c0022 others(3): Show a0001c0001 a0001c0005 a0001c0022 a0001c0023 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0005t0002 a0001c0022t0002 others(4): Show a0001c0001t0001 a0001c0005t0002 a0001c0022t0002 a0001c0023t0002 a0002c0002t0001 a0002c0002t0002 a0005c0011t0001	a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0146 others(53): Show a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0243 a0001c0005t0002g0012 a0001c0005t0002g0016 a0001c0005t0002g0027 a0001c0005t0002g0028 a0001c0005t0002g0061 a0001c0005t0002g0062 a0001c0005t0002g0064 a0001c0005t0002g0066 a0001c0005t0002g0067 a0001c0005t0002g0068 a0001c0005t0002g0070 a0001c0005t0002g0071 a0001c0022t0002g0072 a0001c0023t0002g0073 a0002c0002t0001g0007 a0002c0002t0001g0143 a0002c0002t0001g0247 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0022 a0002c0002t0002g0026 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0109 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0141 a0005c0011t0001g0050 a0005c0011t0001g0235 a0005c0011t0001g0236	97	400	0.2425	-17	c.246 others(34): Show c.2464+621_2464+637delTTCACACACCACATGCA		TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10						chr9	TogoVar
TTF1_chr9_132370548_132411840	132391212	CATAGTGT others(10): Show CATAGTGTAACAATATAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02015.hp2 HG02738.hp1 others(3): Show HG00544.hp2 HG02015.hp2 HG02738.hp1 HG03688.hp1 HG04115.hp2 NA19000.hp2	a0003 a0004 a0009 others(1): Show a0003 a0004 a0009 a0014	a0003c0003 a0004c0004 a0009c0016 others(1): Show a0003c0003 a0004c0004 a0009c0016 a0014c0024	a0003c0003t0002 a0004c0004t0002 a0009c0016t0002 others(1): Show a0003c0003t0002 a0004c0004t0002 a0009c0016t0002 a0014c0024t0002	a0003c0003t0002g0031 a0004c0004t0002g0104 a0009c0016t0002g0075 others(2): Show a0003c0003t0002g0031 a0004c0004t0002g0104 a0009c0016t0002g0075 a0009c0016t0002g0094 a0014c0024t0002g0093	6	400	0.0150	-17	c.198 others(34): Show c.1988-398_1988-382delTTATATTGTTACACTAT		TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	6/10						chr9	TogoVar
TTI2_chr8_33493722_33518135	33495685	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03195.hp2 HG03471.hp1 others(2): Show HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0254 a0002c0002t0002g0256 others(1): Show a0002c0002t0002g0046 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0257	5	398	0.0126	-17	c.34 others(28): Show c.3471_*3487delAAAAAAAAAAAAAAAAA		TTI2	ENSG00000129696.13	transcript	ENST00000431156.7	protein_coding					3036		chr8	TogoVar
TTLL11_chr9_121810674_122098308	121944547	ATTGACAG others(10): Show ATTGACAGTAATGGTGTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0008 a0010c0010t0008	a0010c0010t0008g0024 a0010c0010t0008g0024	1	174	0.0058	-17	c.148 others(38): Show c.1481+29445_1481+29461delAACACCATTACTGTCAA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8						chr9	TogoVar
TTLL11_chr9_121810674_122098308	122095916	ACATATAT others(10): Show ACATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0145 a0001c0001t0045g0145	1	174	0.0058	-17	c.-27 others(28): Show c.-2785_-2769delATATATATATATATATG		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding					2609		chr9	TogoVar
TTLL13_chr15_90244556_90270477	90246787	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA19064.hp2 NA19065.hp1 NA18972.hp2 NA19064.hp2 NA19065.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0017 a0004c0004t0003g0028 a0004c0004t0003g0273 a0001c0001t0001g0017 a0004c0004t0003g0028 a0004c0004t0003g0273	3	432	0.0069	-17	c.-30 others(28): Show c.-3032_-3016delAAAAAAAAAAAAAAAAA		TTLL13	ENSG00000213471.10	transcript	ENST00000641754.2	protein_coding					2768		chr15	TogoVar
TTLL13_chr15_90244556_90270477	90248718	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02723.hp2 others(2): Show HG02257.hp2 HG02258.hp1 HG02723.hp2 NA19030.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0001c0001t0003 a0002c0016t0003 a0001c0001t0001 a0001c0001t0003 a0002c0016t0003	a0001c0001t0001g0005 a0001c0001t0003g0036 a0001c0001t0003g0135 others(1): Show a0001c0001t0001g0005 a0001c0001t0003g0036 a0001c0001t0003g0135 a0002c0016t0003g0134	5	432	0.0116	-17	c.-11 others(28): Show c.-1101_-1085delAAAAAAAAAAAAAAAAA		TTLL13	ENSG00000213471.10	transcript	ENST00000641754.2	protein_coding					837		chr15	TogoVar
TTLL1_chr22_43034516_43094391	43035357	GCCCAGTC others(10): Show GCCCAGTCGCTGAGCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03654.hp1 HG02738.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0350 a0001c0001t0001g0351	2	360	0.0056	-17	c.44 others(28): Show c.4402_*4418delGCTGCTCAGCGACTGGG		TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding					4158		chr22	TogoVar
TTLL3_chr3_9805262_9841365	9813074	TAGCTCAG others(10): Show TAGCTCAGCGATGGGTGA	T T	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0002 a0019c0023t0002	a0019c0023t0002g0092 a0019c0023t0002g0092	1	400	0.0025	-17	c.181 others(24): Show c.181_197delAGCTCAGCGATGGGTGA	p.Ser others(4): Show p.Ser61fs	TTLL3	ENSG00000214021.18	transcript	ENST00000685419.1	protein_coding	3/14	355/3498	181/2448	61/815			chr3	TogoVar
TTLL5_chr14_75656246_75960079	75869046	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	198	0.0051	-17	c.352 others(36): Show c.3522+5186_3522+5202delGTGTGTGTGTGTGTGTT		TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	29/31					INFO_REALIGN_3_PRIME	chr14	TogoVar
TTLL6_chr17_48757234_48822229	48804924	GCTTTCCA others(10): Show GCTTTCCAAAGTCGGGCA	G G	frameshift_variant frameshift_variant	HIGH	HG01261.hp2 HG01433.hp1 NA18971.hp1 HG01261.hp2 HG01433.hp1 NA18971.hp1	a0008 a0018 a0008 a0018	a0008c0010 a0018c0016 a0008c0010 a0018c0016	a0008c0010t0001 a0018c0016t0001 a0008c0010t0001 a0018c0016t0001	a0008c0010t0001g0113 a0008c0010t0001g0114 a0018c0016t0001g0112 a0008c0010t0001g0113 a0008c0010t0001g0114 a0018c0016t0001g0112	3	330	0.0091	-17	c.154 others(24): Show c.154_170delTGCCCGACTTTGGAAAG	p.Cys others(4): Show p.Cys52fs	TTLL6	ENSG00000170703.16	transcript	ENST00000393382.8	protein_coding	2/16	327/3573	154/2676	52/891			chr17	TogoVar
TTLL8_chr22_50013575_50063298	50013592	TGTGTCTG others(10): Show TGTGTCTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG03491.hp1 HG02602.hp1 HG03491.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0105 a0003c0003t0002g0117 a0001c0001t0002g0105 a0003c0003t0002g0117	2	224	0.0089	-17	c.51 others(28): Show c.5175_*5191delCACACACACACAGACAC		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding					4982		chr22	TogoVar

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Search Results (Total: 9132 hits)