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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
TPD52L1_chr6_125148773_125269407	125172112	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02896.hp1 HG02897.hp2 others(4): Show HG00408.hp2 HG02896.hp1 HG02897.hp2 NA18980.hp1 NA18988.hp2 NA19009.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 others(4): Show a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0287 a0001c0001t0001g0298 a0001c0001t0002g0239 a0001c0001t0002g0307	7	320	0.0219	-45	c.19+ others(62): Show c.19+18190_19+18234delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT		TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
TPK1_chr7_144446941_144841053	144781083	TGTAATAT others(38): Show TGTAATATATTATATATTATATATGTAATATGTAATATATGTAATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	118	0.0085	-45	c.44- others(62): Show c.44-15177_44-15133delTATTACATATATTACATATTACATATAT AATATATAATATATTAC		TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8						chr7	TogoVar
TPSAB1_chr16_1235705_1247554	1245208	TTTCTGTG others(38): Show TTTCTGTGTCTTTTTATTTAAAATACACTTATTATTTTAGGACAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0017	1	290	0.0035	-45	c.29 others(56): Show c.2969_*3013delTTCTGTGTCTTTTTATTTAAAATACACTTATTAT TTTAGGACAGG		TPSAB1	ENSG00000172236.19	transcript	ENST00000338844.8	protein_coding					2655		chr16	TogoVar
TRABD2B_chr1_47755528_48002385	47969696	AGCATGGC others(38): Show AGCATGGCATTAGTAATTTGGCCTAAAAAGAAAGGCCAAATAGAAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0081 a0001c0009t0011g0081	1	244	0.0041	-45	c.666 others(64): Show c.666+24293_666+24337delATTCTATTTGGCCTTTCTTTTTAGGC CAAATTACTAATGCCATGC		TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6						chr1	TogoVar
TRAPPC12_chr2_3374694_3484565	3437292	TCACCCCT others(38): Show TCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02004.hp2 HG03942.hp1 HG01258.hp2 HG02004.hp2 HG03942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0147 a0001c0004t0003g0148 a0001c0004t0003g0152 a0001c0004t0003g0147 a0001c0004t0003g0148 a0001c0004t0003g0152	3	344	0.0087	-45	c.141 others(64): Show c.1418-6471_1418-6427delACCCCATCACCCCTGAATTAATCCCC CCACCACCCCTGGATTAAT		TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC2B_chr19_57358551_57370405	57366201	TTTGTGTG others(38): Show TTTGTGTGTGTGTGTATGTTTTTGTTTTTTTGTTTTTGAGATGGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	410	0.0024	-45	c.94 others(54): Show c.946_*990delTTGTGTGTGTGTGTATGTTTTTGTTTTTTTGTTTTT GAGATGGAG		TRAPPC2B	ENSG00000256060.3	transcript	ENST00000543226.2	protein_coding					797		chr19	TogoVar
TRAPPC9_chr8_139722725_140462744	139997545	AGAGACAA others(38): Show AGAGACAACGCATCCTACCCAGGGGAACAATGCATCCTACCCAGGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02486.hp2 others(1): Show HG01884.hp2 HG02109.hp2 HG02486.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0008 a0001c0002 a0001c0003 a0001c0008	a0001c0002t0003 a0001c0002t0022 a0001c0003t0007 others(1): Show a0001c0002t0003 a0001c0002t0022 a0001c0003t0007 a0001c0008t0003	a0001c0002t0003g0038 a0001c0002t0022g0009 a0001c0003t0007g0037 others(1): Show a0001c0002t0003g0038 a0001c0002t0022g0009 a0001c0003t0007g0037 a0001c0008t0003g0021	4	98	0.0408	-45	c.270 others(64): Show c.2700-8754_2700-8710delCCCTGGGTAGGATGCATTGTTCCCCT GGGTAGGATGCGTTGTCTC		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	18/22						chr8	TogoVar
TRIM13_chr13_49992042_50023467	50015089	AAAAAAAT others(38): Show AAAAAAATATATATATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0036 a0001c0001t0088g0036	1	390	0.0026	-45	c.19 others(56): Show c.1927_*1971delAAAAATATATATATATATATATATATATATATAT ATATATATATA		TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding	2/2				1927	INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM2_chr4_153199443_153344317	153244140	TCTTGTTC others(38): Show TCTTGTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	268	0.0037	-45	c.31- others(62): Show c.31-26191_31-26147delGTTCTTCTTGTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTCCTT		TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151782	GGGGTTGA others(38): Show GGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	228	0.0044	-45	c.44 others(56): Show c.4411_*4455delGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGA		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4040		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151811	TGAGAAGG others(38): Show TGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	228	0.0044	-45	c.44 others(56): Show c.4440_*4484delGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGT GAGAGTGGGGG		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4069		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151830	GGTTGAGA others(38): Show GGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	228	0.0044	-45	c.44 others(56): Show c.4459_*4503delGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGA		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4088		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151996	GGGGTTGA others(38): Show GGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 NA19077.hp2 HG01975.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0040 a0001c0001t0003g0006 a0001c0001t0001g0040 a0001c0001t0003g0006	2	228	0.0088	-45	c.46 others(56): Show c.4625_*4669delGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGGGAGA		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4254		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188152020	GGGGGTGA others(38): Show GGGGGTGAGAAGGGGAGGGAGAGGGGTTGAGAAGGGGAGTGAGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	228	0.0044	-45	c.46 others(56): Show c.4649_*4693delGGGGTGAGAAGGGGAGGGAGAGGGGTTGAGAAGG GGAGTGAGAGT		TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding					4278		chr4	TogoVar
TRMT9B_chr8_12940673_13034777	12996936	CTTTATTT others(38): Show CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp2 others(14): Show HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01243.hp2 HG02080.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG03017.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0002c0002 a0003c0006 others(2): Show a0001c0003 a0002c0002 a0003c0006 a0003c0011 a0004c0005	a0001c0003t0056 a0002c0002t0024 a0002c0002t0025 others(9): Show a0001c0003t0056 a0002c0002t0024 a0002c0002t0025 a0002c0002t0055 a0003c0006t0057 a0003c0006t0058 a0003c0011t0026 a0003c0011t0060 a0003c0011t0061 a0003c0011t0062 a0004c0005t0014 a0004c0005t0059	a0001c0003t0056g0156 a0002c0002t0024g0223 a0002c0002t0024g0224 others(13): Show a0001c0003t0056g0156 a0002c0002t0024g0223 a0002c0002t0024g0224 a0002c0002t0025g0009 a0002c0002t0055g0222 a0003c0006t0057g0221 a0003c0006t0058g0220 a0003c0011t0026g0013 a0003c0011t0026g0286 a0003c0011t0060g0284 a0003c0011t0061g0285 a0003c0011t0062g0013 a0004c0005t0014g0022 a0004c0005t0014g0137 a0004c0005t0014g0159 a0004c0005t0059g0158	17	384	0.0443	-45	c.-2+ others(60): Show c.-2+5934_-2+5978delATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTT		TRMT9B	ENSG00000250305.9	transcript	ENST00000524591.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
TTC28_chr22_27973014_28684840	28032175	TATATATA others(38): Show TATATATATATATAAAATATATATATATAAAATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 NA18975.hp1 others(2): Show HG02647.hp1 HG03209.hp1 NA18975.hp1 NA19010.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 a0001c0005t0019	a0001c0001t0001g0002 a0001c0001t0001g0103 a0001c0001t0005g0097 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0103 a0001c0001t0005g0097 a0001c0001t0019g0188 a0001c0005t0019g0044	5	196	0.0255	-45	c.393 others(64): Show c.3933-1854_3933-1810delTTTATATATATATATTTTATATATAT ATATTTTATATATATATAT		TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	12/22						chr22	TogoVar
TTLL1_chr22_43034516_43094391	43092927	AGTATTTG others(38): Show AGTATTTGTTATTTATTTATTTATTTATTTTTAGAGAGGACGTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0047 a0001c0001t0008g0047	1	360	0.0028	-45	c.-37 others(56): Show c.-3785_-3741delAAGACGTCCTCTCTAAAAATAAATAAATAAATAA ATAACAAATAC		TTLL1	ENSG00000100271.17	transcript	ENST00000266254.12	protein_coding					3537		chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028863	ACCCCCAT others(38): Show ACCCCCATCACACCATCCTAAAGACCCCACATACCCTCGTAAAGAC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0009 a0004c0004t0001g0009	1	224	0.0045	-45	c.225 others(64): Show c.2251+1522_2251+1566delGTCTTTACGAGGGTATGTGGGGTCTT TAGGATGGTGTGATGGGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TUBB4A_chr19_6489319_6507309	6494745	GGTCAGCG others(38): Show GGTCAGCGGTGAAGTGCAGCTCAGAGGGAGGGGTCAAACATAAACC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0231 a0001c0001t0027g0231	1	428	0.0023	-45	c.37 others(54): Show c.374_*418delGGTTTATGTTTGACCCCTCCCTCTGAGCTGCACTTC ACCGCTGAC		TUBB4A	ENSG00000104833.12	transcript	ENST00000264071.7	protein_coding	4/4				374		chr19	TogoVar
TUBGCP5_chr15_22994177_23044569	23043366	GGCGGGGG others(38): Show GGCGGGGGGAACTTCCTAACCCTACCTGGCCGGAGGTGCTGGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02717.hp1 HG01192.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	2	351	0.0057	-45	c.-38 others(56): Show c.-3868_-3824delACCCCCAGCACCTCCGGCCAGGTAGGGTTAGGAA GTTCCCCCCGC		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					3798		chr15	TogoVar
TVP23C_chr17_15531980_15568483	15563602	AGGGGCGG others(38): Show AGGGGCGGGGCGAGCGGGGGCGGGGCGAGCGGGGGCGGGGCGAGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(114): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02300.hp1 HG02698.hp2 HG03195.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18990.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0024 a0001c0001t0028 a0001c0001t0033 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0035 a0003c0003t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0001t0001g0230 a0001c0001t0004g0004 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0171 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0283 a0001c0001t0017g0048 a0001c0001t0024g0119 a0001c0001t0028g0179 a0001c0001t0033g0130 a0002c0002t0002g0248 a0002c0002t0002g0261 a0002c0002t0002g0271 a0002c0002t0002g0277 a0002c0002t0003g0002 a0002c0002t0003g0005 a0002c0002t0003g0018 a0002c0002t0003g0209 a0002c0002t0003g0213 a0002c0002t0003g0241 a0002c0002t0005g0082 a0002c0002t0005g0186 a0002c0002t0035g0206 a0003c0003t0001g0120 a0003c0003t0001g0121 a0004c0006t0001g0139	117	424	0.2759	-45	c.-19 others(54): Show c.-199_-155delCGCTCGCCCCGCCCCCGCTCGCCCCGCCCCCGCTCG CCCCGCCCC		TVP23C	ENSG00000175106.17	transcript	ENST00000518321.6	protein_coding					120		chr17	TogoVar
TXNDC2_chr18_9880973_9894275	9887391	GGAAGCCA others(38): Show GGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00323.hp1 HG00621.hp2 others(86): Show HG00099.hp1 HG00323.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03540.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19062.hp1 NA19065.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0009 others(1): Show a0002 a0003 a0009 a0012	a0002c0002 a0003c0003 a0003c0020 others(2): Show a0002c0002 a0003c0003 a0003c0020 a0009c0010 a0012c0014	a0002c0002t0002 a0002c0002t0011 a0002c0002t0013 others(5): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0013 a0003c0003t0002 a0003c0003t0004 a0003c0020t0002 a0009c0010t0002 a0012c0014t0002	a0002c0002t0002g0002 a0002c0002t0011g0002 a0002c0002t0013g0002 others(7): Show a0002c0002t0002g0002 a0002c0002t0011g0002 a0002c0002t0013g0002 a0003c0003t0002g0002 a0003c0003t0004g0002 a0003c0003t0004g0006 a0003c0003t0004g0007 a0003c0020t0002g0002 a0009c0010t0002g0002 a0012c0014t0002g0002	89	428	0.2079	-45	c.752 others(52): Show c.752_796delCAGAAGAAGCCATCCAGCCCAAGGAGGGTGACATCCCC AAGTCCC	p.Pro others(13): Show p.Pro251_Ser265del	TXNDC2	ENSG00000168454.13	transcript	ENST00000357775.6	protein_coding	2/2	952/2795	752/1461	251/486		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667208	GTGATGGA others(38): Show GTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0346 a0001c0001t0009g0347 a0001c0001t0009g0346 a0001c0001t0009g0347	2	482	0.0042	-45	c.455 others(62): Show c.455-1861_455-1817delATGGAGATGGTGATGGTGATGGAGATGG AGATGGTGATGGTGATG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667411	GTGATGGT others(38): Show GTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA20129.hp2 NA20905.hp2 HG01433.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0007g0422 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0007g0422	3	482	0.0062	-45	c.455 others(62): Show c.455-1654_455-1610delTGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGTGATGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667418	TGATGGTG others(38): Show TGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0404 a0001c0001t0003g0404	1	482	0.0021	-45	c.455 others(62): Show c.455-1642_455-1598delAGATGGTGATGGTGATGGTGATGGTGAT GATGGAGATGGTGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667430	AGATGGTG others(38): Show AGATGGTGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02698.hp1 NA18956.hp1 others(1): Show HG02451.hp1 HG02698.hp1 NA18956.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0003g0330 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0003g0330 a0001c0001t0008g0039	4	482	0.0083	-45	c.455 others(62): Show c.455-1618_455-1574delTGATGATGGAGATGGTGATGGTGATGGT GATGGTGATGGTGATGG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667454	TGATGATG others(38): Show TGATGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG04199.hp2 NA20300.hp1 HG02922.hp1 HG04199.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0205 a0001c0001t0010g0019 a0001c0001t0003g0205 a0001c0001t0010g0019	3	482	0.0062	-45	c.455 others(62): Show c.455-1613_455-1569delATGGAGATGGTGATGGTGATGGTGATGG TGATGGTGATGGAGATG		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
TYW1_chr7_66991833_67244514	67184613	TTTTATTT others(38): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATGTTATG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01943.hp2 HG02004.hp1 others(11): Show HG01106.hp2 HG01943.hp2 HG02004.hp1 HG02451.hp1 HG02683.hp1 HG02723.hp1 HG02809.hp2 HG03098.hp2 HG03710.hp1 HG04184.hp2 HG04199.hp2 NA18981.hp2 NA19058.hp1 NA19077.hp2	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0003 a0002c0004 a0004c0006 others(1): Show a0002c0003 a0002c0004 a0004c0006 a0008c0009	a0002c0003t0004 a0002c0004t0002 a0002c0004t0004 others(2): Show a0002c0003t0004 a0002c0004t0002 a0002c0004t0004 a0004c0006t0005 a0008c0009t0004	a0002c0003t0004g0172 a0002c0003t0004g0205 a0002c0003t0004g0206 others(11): Show a0002c0003t0004g0172 a0002c0003t0004g0205 a0002c0003t0004g0206 a0002c0003t0004g0207 a0002c0004t0002g0302 a0002c0004t0002g0309 a0002c0004t0004g0287 a0002c0004t0004g0298 a0002c0004t0004g0362 a0004c0006t0005g0008 a0004c0006t0005g0107 a0004c0006t0005g0108 a0004c0006t0005g0250 a0008c0009t0004g0294	14	364	0.0385	-45	c.180 others(64): Show c.1809+1380_1809+1424delTATTTTATTTTATTTTATTTTATTTT ATTTTATTTATGTTATGTT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3A_chr15_25328728_25444024	25367217	ATATTTAC others(38): Show ATATTTACATATTTGTAAATATGTAAATATTTGCATATTTGTAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01167.hp1 others(31): Show HG00099.hp1 HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0001t0028 a0001c0001t0033 a0001c0001t0053 a0001c0001t0054 a0002c0005t0006	a0001c0001t0004g0021 a0001c0001t0004g0023 a0001c0001t0004g0024 others(31): Show a0001c0001t0004g0021 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0033 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0024g0032 a0001c0001t0024g0052 a0001c0001t0028g0050 a0001c0001t0033g0045 a0001c0001t0053g0055 a0001c0001t0054g0040 a0002c0005t0006g0014 a0002c0005t0006g0015 a0002c0005t0006g0028 a0002c0005t0006g0029	34	298	0.1141	-45	c.160 others(64): Show c.1608+3304_1608+3348delATTTACAAATATGCAAATATTTACAT ATTTACAAATATGTAAATA		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	6/12						chr15	TogoVar
UBE4A_chr11_118354600_118404211	118355473	ATATATGT others(38): Show ATATATGTATATGTATATATACACATATACACATGTATATATACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02451.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0046 a0001c0001t0004g0048	2	320	0.0063	-45	c.-42 others(56): Show c.-4242_-4198delTATATGTATATGTATATATACACATATACACATG TATATATACAC		UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding					4126		chr11	TogoVar
UGCG_chr9_111891814_111940369	111911902	CAGGATAT others(38): Show CAGGATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00733.hp2 HG00738.hp2 others(15): Show HG00558.hp1 HG00733.hp2 HG00738.hp2 HG01074.hp2 HG04115.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18953.hp2 NA18954.hp1 NA18975.hp2 NA18990.hp1 NA18998.hp2 NA19009.hp2 NA19065.hp2 NA19070.hp1 NA19081.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0014 a0001c0003t0046 others(2): Show a0001c0003t0008 a0001c0003t0014 a0001c0003t0046 a0001c0003t0048 a0001c0003t0050	a0001c0003t0008g0124 a0001c0003t0008g0125 a0001c0003t0008g0126 others(15): Show a0001c0003t0008g0124 a0001c0003t0008g0125 a0001c0003t0008g0126 a0001c0003t0008g0127 a0001c0003t0008g0128 a0001c0003t0008g0129 a0001c0003t0008g0131 a0001c0003t0008g0132 a0001c0003t0008g0134 a0001c0003t0008g0135 a0001c0003t0008g0136 a0001c0003t0008g0137 a0001c0003t0014g0184 a0001c0003t0014g0185 a0001c0003t0014g0186 a0001c0003t0046g0130 a0001c0003t0048g0133 a0001c0003t0050g0371	18	424	0.0425	-45	c.99- others(60): Show c.99-2701_99-2657delGGATATATATATATATATATATATATATAT ATATATATATATATA		UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54286330	TGAGATTT others(38): Show TGAGATTTTTCTGGTATAGTTGCAGTGTGAAGTATATTTTAGTTGC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0068 a0001c0005t0003g0068	1	158	0.0063	-45	c.381 others(64): Show c.3819-7564_3819-7520delGAGATTTTTCTGGTATAGTTGCAGTG TGAAGTATATTTTAGTTGC		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	10/32						chr15	TogoVar
UROC1_chr3_126476166_126522773	126520789	AGGCGGAG others(38): Show AGGCGGAGGTTGCAGTGAGCCGAGACTGTGCCACTTCACTCCAGTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	380	0.0026	-45	c.-31 others(56): Show c.-3115_-3071delGACTGGAGTGAAGTGGCACAGTCTCGGCTCACTG CAACCTCCGCC		UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding					3017		chr3	TogoVar
USH1C_chr11_17488900_17549416	17527070	AGCTCCCC others(38): Show AGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01884.hp1 HG01978.hp1 others(15): Show HG00558.hp1 HG01884.hp1 HG01978.hp1 HG02145.hp1 HG02165.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0009 a0011 a0015	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0017 a0001c0021 a0001c0047 a0002c0015 a0002c0019 a0002c0046 a0004c0014 a0009c0045 a0011c0048 a0015c0029	a0001c0001t0001 a0001c0003t0004 a0001c0004t0003 others(11): Show a0001c0001t0001 a0001c0003t0004 a0001c0004t0003 a0001c0017t0001 a0001c0021t0001 a0001c0021t0002 a0001c0047t0001 a0002c0015t0002 a0002c0019t0002 a0002c0046t0002 a0004c0014t0005 a0009c0045t0016 a0011c0048t0001 a0015c0029t0001	a0001c0001t0001g0046 a0001c0001t0001g0137 a0001c0001t0001g0303 others(14): Show a0001c0001t0001g0046 a0001c0001t0001g0137 a0001c0001t0001g0303 a0001c0003t0004g0030 a0001c0004t0003g0138 a0001c0017t0001g0314 a0001c0017t0001g0315 a0001c0021t0001g0163 a0001c0021t0002g0162 a0001c0047t0001g0196 a0002c0015t0002g0319 a0002c0019t0002g0025 a0002c0046t0002g0160 a0004c0014t0005g0062 a0009c0045t0016g0159 a0011c0048t0001g0161 a0015c0029t0001g0293	18	360	0.0500	-45	c.497 others(58): Show c.497-75_497-31delAGGTCAGTACTCCATGACGGTGGGAGGGAGGG AGGGCGGGGGAGC		USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding	5/26						chr11	TogoVar
USH1C_chr11_17488900_17549416	17527112	ACCTGCTC others(38): Show ACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(158): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03688.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0012 a0013 a0016	a0001c0001 a0001c0003 a0001c0004 others(20): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0013 a0001c0016 a0001c0024 a0002c0002 a0002c0005 a0002c0006 a0002c0009 a0002c0010 a0002c0031 a0002c0044 a0003c0011 a0004c0014 a0005c0038 a0006c0025 a0010c0034 a0012c0032 a0013c0033 a0016c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0007t0001 a0001c0008t0001 a0001c0013t0001 a0001c0013t0010 a0001c0016t0001 a0001c0024t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0005t0002 a0002c0005t0013 a0002c0006t0001 a0002c0006t0002 a0002c0009t0001 a0002c0009t0002 a0002c0010t0001 a0002c0010t0002 a0002c0031t0002 a0002c0044t0001 a0003c0011t0001 a0003c0011t0002 a0004c0014t0001 a0004c0014t0005 a0005c0038t0001 a0006c0025t0001 a0010c0034t0002 a0012c0032t0002 a0013c0033t0001 a0016c0022t0002	a0001c0001t0001g0056 a0001c0001t0001g0123 a0001c0001t0001g0154 others(138): Show a0001c0001t0001g0056 a0001c0001t0001g0123 a0001c0001t0001g0154 a0001c0001t0001g0203 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0218 a0001c0001t0003g0206 a0001c0001t0008g0229 a0001c0001t0011g0027 a0001c0003t0001g0054 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0156 a0001c0003t0001g0198 a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0003t0001g0226 a0001c0003t0001g0239 a0001c0003t0001g0249 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0260 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0271 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0320 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0003g0235 a0001c0003t0003g0253 a0001c0003t0008g0272 a0001c0004t0001g0003 a0001c0004t0001g0199 a0001c0004t0001g0207 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0211 a0001c0004t0001g0215 a0001c0004t0001g0234 a0001c0004t0001g0247 a0001c0004t0001g0277 a0001c0004t0001g0300 a0001c0004t0002g0241 a0001c0004t0003g0299 a0001c0004t0003g0301 a0001c0007t0001g0298 a0001c0008t0001g0006 a0001c0008t0001g0219 a0001c0008t0001g0221 a0001c0008t0001g0262 a0001c0008t0001g0264 a0001c0008t0001g0289 a0001c0008t0001g0294 a0001c0013t0001g0214 a0001c0013t0001g0279 a0001c0013t0001g0282 a0001c0013t0010g0026 a0001c0016t0001g0227 a0001c0024t0001g0312 a0002c0002t0001g0216 a0002c0002t0002g0015 a0002c0002t0002g0019 a0002c0002t0002g0200 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0286 a0002c0005t0001g0036 a0002c0005t0001g0141 a0002c0005t0001g0224 a0002c0005t0001g0237 a0002c0005t0001g0252 a0002c0005t0001g0270 a0002c0005t0002g0020 a0002c0005t0002g0152 a0002c0005t0002g0236 a0002c0005t0002g0251 a0002c0005t0002g0254 a0002c0005t0002g0259 a0002c0005t0002g0265 a0002c0005t0002g0290 a0002c0005t0002g0311 a0002c0005t0013g0220 a0002c0006t0001g0021 a0002c0006t0001g0233 a0002c0006t0001g0263 a0002c0006t0001g0266 a0002c0006t0002g0002 a0002c0006t0002g0017 a0002c0006t0002g0018 a0002c0006t0002g0022 a0002c0006t0002g0257 a0002c0006t0002g0274 a0002c0006t0002g0288 a0002c0006t0002g0313 a0002c0006t0002g0322 a0002c0009t0001g0317 a0002c0009t0002g0007 a0002c0009t0002g0023 a0002c0009t0002g0201 a0002c0009t0002g0280 a0002c0009t0002g0318 a0002c0010t0001g0014 a0002c0010t0002g0155 a0002c0010t0002g0238 a0002c0010t0002g0275 a0002c0031t0002g0258 a0002c0044t0001g0197 a0003c0011t0001g0024 a0003c0011t0001g0283 a0003c0011t0002g0284 a0003c0011t0002g0285 a0004c0014t0001g0269 a0004c0014t0005g0225 a0005c0038t0001g0273 a0006c0025t0001g0205 a0010c0034t0002g0261 a0012c0032t0002g0250 a0013c0033t0001g0232 a0016c0022t0002g0222	161	360	0.4472	-45	c.496 others(58): Show c.496+66_497-73delGCAGTACTCCATGACGGTGGGAGGGAGGGAGG GCGGGGGAGCAGG		USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding	5/26						chr11	TogoVar
USP24_chr1_55061359_55220364	55144498	TGCAACTC others(38): Show TGCAACTCAAGAATTAAAAGACAAACCAATTTTAAAATGGGCAAAA	T T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0152 a0004c0006t0002g0152	1	198	0.0051	-45	c.236 others(62): Show c.2363-340_2363-296delTTTTGCCCATTTTAAAATTGGTTTGTCT TTTAATTCTTGAGTTGC		USP24	ENSG00000162402.15	transcript	ENST00000294383.7	protein_coding	20/67						chr1	TogoVar
USP44_chr12_95511560_95556476	95555648	TAGAAAAA others(38): Show TAGAAAAATAATGAAGGATGAGCCAAGCATTGTAGGGGGGGGAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0388 a0002c0002t0002g0388	1	402	0.0025	-45	c.-44 others(56): Show c.-4492_-4448delTTTTCCCCCCCCTACAATGCTTGGCTCATCCTTC ATTATTTTTCT		USP44	ENSG00000136014.12	transcript	ENST00000258499.8	protein_coding					4173		chr12	TogoVar
UTS2B_chr3_191262168_191335526	191334451	ACTTTAAA others(38): Show ACTTTAAAAAGAGATTTCAGAGTAGAAAGCACTAAAAACCACTGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18960.hp1 NA18949.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0286 a0001c0001t0011g0293 a0001c0001t0005g0286 a0001c0001t0011g0293	2	402	0.0050	-45	c.-47 others(56): Show c.-4747_-4703delAACAGTGGTTTTTAGTGCTTTCTACTCTGAAATC TCTTTTTAAAG		UTS2B	ENSG00000188958.10	transcript	ENST00000340524.10	protein_coding					3926		chr3	TogoVar
VCX2_chrX_8164944_8176267	8169789	TCCTCCCT others(38): Show TCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02717.hp1 NA20300.hp1 HG02559.hp1 HG02717.hp1 NA20300.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0007 a0006c0005t0005g0007	3	115	0.0261	-45	c.19 others(54): Show c.198_*242delGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					154		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466680	GGGAGGAA others(38): Show GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA19240.hp2 HG02145.hp1 NA19240.hp2	a0015 a0049 a0015 a0049	a0015c0015 a0049c0039 a0015c0015 a0049c0039	a0015c0015t0006 a0049c0039t0006 a0015c0015t0006 a0049c0039t0006	a0015c0015t0006g0009 a0049c0039t0006g0036 a0015c0015t0006g0009 a0049c0039t0006g0036	2	271	0.0074	-45	c.29 others(54): Show c.298_*342delGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGTGT		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					171		chrX	TogoVar
VEZF1_chr17_57966552_57993254	57989404	TGGACGCA others(38): Show TGGACGCATTATTTTAAGACTTTAACATTTTCCAAAACCAACTGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	274	0.0037	-45	c.-13 others(56): Show c.-1338_-1294delTTCAGTTGGTTTTGGAAAATGTTAAAGTCTTAAA ATAATGCGTCC		VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding					1151		chr17	TogoVar
VPS41_chr7_38717974_38914191	38720487	TATATATA others(38): Show TATATATATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01261.hp1 HG03710.hp1 others(2): Show HG00099.hp1 HG01261.hp1 HG03710.hp1 HG03831.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0023 a0001c0001t0015 a0001c0001t0023	a0001c0001t0015g0190 a0001c0001t0015g0195 a0001c0001t0023g0192 others(2): Show a0001c0001t0015g0190 a0001c0001t0015g0195 a0001c0001t0023g0192 a0001c0001t0023g0194 a0001c0001t0023g0209	5	278	0.0180	-45	c.57 others(56): Show c.5714_*5758delTATATATATATATATATATATATATATATATATA TATATATATAT		VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding					2486		chr7	TogoVar
VPS53_chr17_503668_719839	660637	GGGAAGGA others(38): Show GGGAAGGACGAGGGCCCCTGGGTGCTGCTGGGTGTGGTGCATCCTT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0038 a0002c0010t0038	a0002c0010t0038g0156 a0002c0010t0038g0156	1	232	0.0043	-45	c.372 others(62): Show c.372+1127_372+1171delAAGGATGCACCACACCCAGCAGCACCCA GGGGCCCTCGTCCTTCC		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	5/21						chr17	TogoVar
VRK2_chr2_58041806_58164871	58151572	TCCATTTC others(38): Show TCCATTTCCATTTGAGGTAACTATTGATATAGCTGGGTTTAATCTA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	340	0.0029	-45	c.118 others(64): Show c.1182+5104_1182+5148delTCCATTTGAGGTAACTATTGATATAG CTGGGTTTAATCTACCATT		VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
VSIG2_chr11_124742474_124757255	124756533	TCACTCAC others(38): Show TCACTCACCCAGTACATTGAGTTCTAAGGTTTTGATGCTGTGGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0009 a0004c0003t0001g0009	1	406	0.0025	-45	c.-44 others(56): Show c.-4441_-4397delGGGCCACAGCATCAAAACCTTAGAACTCAATGTA CTGGGTGAGTG		VSIG2	ENSG00000019102.12	transcript	ENST00000326621.10	protein_coding					4279		chr11	TogoVar
VWA3A_chr16_22087541_22161964	22115895	AAGGAAGG others(38): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0025 a0005c0005t0001g0025	1	294	0.0034	-45	c.815 others(60): Show c.815+424_815+468delAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAAGGAAAGGAAG		VWA3A	ENSG00000175267.15	transcript	ENST00000389398.10	protein_coding	9/33						chr16	TogoVar
WASHC5_chr8_125019260_125096792	125096236	CATAGGCC others(38): Show CATAGGCCACAGCTAACTTCAAGGAAGGCTGGAAAATGTGGAGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	352	0.0028	-45	c.-47 others(56): Show c.-4791_-4747delATGCTCCACATTTTCCAGCCTTCCTTGAAGTTAG CTGTGGCCTAT		WASHC5	ENSG00000164961.16	transcript	ENST00000318410.12	protein_coding					4445		chr8	TogoVar
WDPCP_chr2_63114559_63593477	63157104	TACCAGTT others(38): Show TACCAGTTGATTTGATCAGTTGATTTTTCTTATTTATATTGCTAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0005 a0001c0001t0015g0005	1	216	0.0046	-45	c.207 others(64): Show c.2079-3575_2079-3531delTTTAGCAATATAAATAAGAAAAATCA ACTGATCAAATCAACTGGT		WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	15/17						chr2	TogoVar
WDR36_chr5_111087348_111135502	111088116	TATTTCTG others(38): Show TATTTCTGCCTTCATTTCGTTAGGTACCCAGTAGTCATTCAGGAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0102 a0001c0008t0002g0102	1	420	0.0024	-45	c.-43 others(56): Show c.-4340_-4296delATTTCTGCCTTCATTTCGTTAGGTACCCAGTAGT CATTCAGGAGC		WDR36	ENSG00000134987.13	transcript	ENST00000513710.4	protein_coding					4231		chr5	TogoVar
WDR81_chr17_1719704_1743585	1738865	GGCCTGAT others(38): Show GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG02451.hp2 others(11): Show HG00609.hp1 HG01884.hp1 HG02451.hp2 HG02559.hp2 HG02886.hp2 HG03195.hp1 HG03453.hp1 HG03516.hp2 NA18960.hp1 NA18974.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19059.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0041 others(1): Show a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0041 a0001c0006t0001g0001	14	431	0.0325	-45	c.11 others(56): Show c.1181_*1225delGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGA		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					281		chr17	TogoVar

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