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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
THSD7B_chr2_136760545_137682718	136825718	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA19240.hp2 HG01515.hp2 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0051 a0002c0003 a0004c0051	a0002c0003t0001 a0004c0051t0001 a0002c0003t0001 a0004c0051t0001	a0002c0003t0001g0056 a0004c0051t0001g0069 a0002c0003t0001g0056 a0004c0051t0001g0069	2	98	0.0204	21	c.-35 others(40): Show c.-35-56412_-35-56411insGTTTTTTTTTTTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137646681	T T	TAATAATA others(14): Show TAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0004 a0006c0032t0004	a0006c0032t0004g0036 a0006c0032t0004g0036	1	98	0.0102	21	c.394 others(40): Show c.3945+4050_3945+4051insTAATAATAATAATAATAAAAA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD8_chr19_12797069_12809389	12805131	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18940.hp2 NA18967.hp2 HG00597.hp1 NA18940.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0004 a0001c0001t0001g0007	3	420	0.0071	21	c.82 others(30): Show c.828_*829insAAAAAAAAAAAAAAAAAAAAA	THSD8	ENSG00000284491.3	transcript	ENST00000639810.3	protein_coding		743		chr19	TogoVar
THUMPD2_chr2_39731061_39784258	39779360	A A	AGGGAGAG others(14): Show AGGGAGAGGGGGAGAGGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0133 a0008c0009t0001g0133	1	338	0.0030	21	c.-12 others(30): Show c.-122_-121insCCTCTCCTCTCCCCCTCTCCC	THUMPD2	ENSG00000138050.15	transcript	ENST00000505747.6	protein_coding		103		chr2	TogoVar
THUMPD2_chr2_39731061_39784258	39779366	A A	AGGGGGAG others(14): Show AGGGGGAGAGGGAGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 NA18979.hp2 NA18991.hp1 others(1): Show HG01192.hp1 NA18979.hp2 NA18991.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0101 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0101 a0001c0001t0001g0120 a0001c0001t0001g0181	4	338	0.0118	21	c.-12 others(30): Show c.-128_-127insCTCCCCCTCTCCCTCTCCCCC	THUMPD2	ENSG00000138050.15	transcript	ENST00000505747.6	protein_coding		109		chr2	TogoVar
TIAL1_chr10_119568465_119601964	119590800	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0272 a0001c0002t0004g0272	1	398	0.0025	21	c.33- others(36): Show c.33-2573_33-2553dupTCTTTCTTTCTTTCTTTCTTT	TIAL1	ENSG00000151923.18	transcript	ENST00000436547.7	protein_coding	1/11			chr10	TogoVar
TIAM1_chr21_31113418_31349261	31222707	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0041 a0002c0003t0003g0041	1	212	0.0047	21	c.199 others(38): Show c.1995+698_1995+699insAAAAAAAAAAAAAAAAATATA	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	8/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155029513	C C	CTATAGTA others(14): Show CTATAGTATATATACTATATAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0005 a0001c0002t0033g0005	1	230	0.0044	21	c.-20 others(42): Show c.-209+34025_-209+34026insGTATATATACTATATAGTATA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155070209	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0031 a0006c0010t0002g0031	1	230	0.0044	21	c.-20 others(42): Show c.-208-20071_-208-20051dupTTTTTTTTTTTTTTTTTTTTT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155141232	A A	AAGATGTT others(14): Show AAGATGTTTTTTTCCCCAGCGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0203 a0001c0009t0013g0203	1	230	0.0044	21	c.163 others(40): Show c.1631-3372_1631-3352dupGATGTTTTTTTCCCCAGCGTA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155187573	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0015 a0001c0053t0015	a0001c0053t0015g0072 a0001c0053t0015g0072	1	230	0.0044	21	c.306 others(40): Show c.3064+4076_3064+4096dupTTTTTTTTTTTTTTTTTTTTT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155218948	C C	CCCATGTT others(14): Show CCCATGTTCTTGACCATCTCAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02572.hp1 others(1): Show HG02109.hp1 HG02258.hp1 HG02572.hp1 HG03225.hp1	a0001 a0026 a0027 a0001 a0026 a0027	a0001c0009 a0026c0061 a0027c0064 a0001c0009 a0026c0061 a0027c0064	a0001c0009t0012 a0001c0009t0013 a0026c0061t0031 others(1): Show a0001c0009t0012 a0001c0009t0013 a0026c0061t0031 a0027c0064t0034	a0001c0009t0012g0189 a0001c0009t0013g0203 a0026c0061t0031g0064 others(1): Show a0001c0009t0012g0189 a0001c0009t0013g0203 a0026c0061t0031g0064 a0027c0064t0034g0113	4	230	0.0174	21	c.316 others(40): Show c.3168+7643_3168+7644insATGTTCTTGACCATCTCAGCC	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TICRR_chr15_89570469_89633023	89609100	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG02809.hp1 HG02922.hp1	a0003 a0036 a0003 a0036	a0003c0006 a0036c0033 a0003c0006 a0036c0033	a0003c0006t0001 a0036c0033t0001 a0003c0006t0001 a0036c0033t0001	a0003c0006t0001g0271 a0036c0033t0001g0200 a0003c0006t0001g0271 a0036c0033t0001g0200	2	344	0.0058	21	c.286 others(38): Show c.2869+159_2869+179dupTTTTTTTTTTTTTTTTTTTTT	TICRR	ENSG00000140534.14	transcript	ENST00000268138.12	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
TIGAR_chr12_4316213_4365028	4338975	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0144 a0001c0002t0144	a0001c0002t0144g0179 a0001c0002t0144g0179	1	420	0.0024	21	c.192 others(38): Show c.192+1816_192+1817insAAAAAAAAAAAAAAAAAAAAA	TIGAR	ENSG00000078237.7	transcript	ENST00000179259.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
TIGD2_chr4_89106533_89119901	89119115	A A	AAATATAT others(14): Show AAATATATATGTAGTATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00544.hp1 others(128): Show HG00099.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02735.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0013 a0003c0004 others(1): Show a0001c0001 a0001c0013 a0003c0004 a0006c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0013t0001 a0003c0004t0001 a0003c0004t0011 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0005g0001 a0001c0001t0006g0001 others(7): Show a0001c0001t0001g0001 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0008g0001 a0001c0001t0010g0001 a0001c0001t0013g0001 a0001c0013t0001g0001 a0003c0004t0001g0001 a0003c0004t0011g0001 a0006c0010t0001g0001	131	430	0.3047	21	c.45 others(32): Show c.4563_*4564insAATATATATGTAGTATATATG	TIGD2	ENSG00000180346.5	transcript	ENST00000603357.3	protein_coding		4215		chr4	TogoVar
TIGD7_chr16_3293808_3310430	3295558	G G	GGCCGAGC others(14): Show GGCCGAGCGAGGCGATGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00733.hp1 others(86): Show HG00323.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA19030.hp1 NA19043.hp2 NA19070.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0004t0009 a0001c0005t0010 a0001c0006t0011 a0002c0002t0007 a0004c0007t0004	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0004g0011 a0001c0001t0004g0017 a0001c0001t0004g0035 a0001c0001t0005g0007 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0013g0025 a0001c0001t0015g0031 a0001c0001t0017g0047 a0001c0001t0018g0055 a0001c0001t0021g0046 a0001c0004t0009g0019 a0001c0005t0010g0029 a0001c0005t0010g0057 a0001c0006t0011g0022 a0002c0002t0007g0010 a0004c0007t0004g0034	89	388	0.2294	21	c.34 others(32): Show c.3406_*3407insTCTCCCATCGCCTCGCTCGGC	TIGD7	ENSG00000140993.11	transcript	ENST00000396862.2	protein_coding		3249		chr16	TogoVar
TIMELESS_chr12_56411363_56454426	56414719	T T	TTCTCTTT others(14): Show TTCTCTTTCTCCCTTTCATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0181 a0001c0003t0001g0181	1	402	0.0025	21	c.29 others(32): Show c.2996_*2997insTGTATGAAAGGGAGAAAGAGA	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding		1643		chr12	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	402	0.0025	21	c.322 others(38): Show c.3228+539_3228+540insATATATATATTTTTTTTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0328 a0018c0029t0001g0328	1	402	0.0025	21	c.322 others(38): Show c.3228+539_3228+540insATATATATATATTTTTTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	402	0.0025	21	c.322 others(38): Show c.3228+539_3228+540insATATATATATATATTTTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMM17A_chr1_201950503_201975664	201967530	T T	TTTTATTT others(14): Show TTTTATTTATTTATTTTATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	468	0.0021	21	c.431 others(38): Show c.431-1924_431-1923insTATTTATTTATTTATTTATTT	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TIMM23_chr10_45967489_46008742	45993244	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	400	0.0025	21	c.514 others(38): Show c.514+4414_514+4415insTTTTTTTTTTTTTTTTTTTTT	TIMM23	ENSG00000265354.4	transcript	ENST00000580018.4	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
TIMM23_chr10_45967489_46008742	46000782	T T	TAATCTGA others(14): Show TAATCTGAAGTTGAATGTGTGG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	400	0.0025	21	c.515 others(38): Show c.515-2420_515-2400dupAATCTGAAGTTGAATGTGTGG	TIMM23	ENSG00000265354.4	transcript	ENST00000580018.4	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 NA19066.hp2 HG01106.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0003g0267 a0001c0001t0001g0020 a0001c0001t0003g0267	2	378	0.0053	21	c.49 others(32): Show c.4914_*4915insAAAAATATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 NA18983.hp2 HG02735.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0096 a0001c0001t0001g0002 a0001c0001t0001g0096	2	378	0.0053	21	c.49 others(32): Show c.4914_*4915insAAAAAAATATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	378	0.0027	21	c.49 others(32): Show c.4914_*4915insAAAAAAAAATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TINAG_chr6_54303441_54395142	54360841	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02300.hp1 HG02300.hp2 others(3): Show HG01258.hp1 HG02300.hp1 HG02300.hp2 HG02738.hp1 NA18940.hp2 NA18978.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0096 a0001c0001t0001g0128 a0001c0001t0001g0302 others(3): Show a0001c0001t0001g0096 a0001c0001t0001g0128 a0001c0001t0001g0302 a0001c0001t0001g0305 a0002c0002t0001g0165 a0002c0002t0001g0359	6	374	0.0160	21	c.125 others(40): Show c.1250+6216_1250+6236dupTTTTTTTTTTTTTTTTTTTTT	TINAG	ENSG00000137251.16	transcript	ENST00000259782.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TINAG_chr6_54303441_54395142	54371986	T T	TTTTTTTT others(14): Show TTTTTTTTTGTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0004 a0004c0021t0004	a0004c0021t0004g0224 a0004c0021t0004g0224	1	374	0.0027	21	c.125 others(40): Show c.1251-8532_1251-8531insGTTTTTTTTTTTGTTTTTTTT	TINAG	ENSG00000137251.16	transcript	ENST00000259782.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TJAP1_chr6_43472570_43511554	43474582	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0014 a0001c0006t0001g0014	1	288	0.0035	21	c.-33 others(32): Show c.-3314_-3313insAATAATAATAATAATAATAAT	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding		2987		chr6	TogoVar
TK2_chr16_66503003_66555122	66505212	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02615.hp1 HG02165.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0113 a0001c0001t0009g0216 a0001c0001t0005g0113 a0001c0001t0009g0216	2	300	0.0067	21	c.67 others(32): Show c.6755_*6756insATATATATATATATATATATA	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2790		chr16	TogoVar
TK2_chr16_66503003_66555122	66505212	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0213 a0001c0001t0009g0213	1	300	0.0033	21	c.67 others(32): Show c.6755_*6756insAAAAAAATATATATATATATA	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2790		chr16	TogoVar
TK2_chr16_66503003_66555122	66505213	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA20300.hp1 NA19087.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0004 a0001c0001t0034	a0001c0001t0004g0208 a0001c0001t0034g0217 a0001c0001t0004g0208 a0001c0001t0034g0217	2	300	0.0067	21	c.67 others(32): Show c.6754_*6755insTATATATATATATATATATAT	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2789		chr16	TogoVar
TKTL1_chrX_154290795_154335350	154328545	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18998.hp2 NA18951.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0195 a0001c0001t0001g0118 a0001c0001t0001g0195	2	272	0.0074	21	c.161 others(38): Show c.1618+614_1618+634dupAAAAAAAAAAAAAAAAAAAAA	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
TLE1_chr9_81578683_81694547	81625911	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	356	0.0028	21	c.595 others(38): Show c.595-5375_595-5355dupTTTTTTTTTTTTTTTTTTTTT	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	8/19			chr9	TogoVar
TLE1_chr9_81578683_81694547	81675698	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	356	0.0028	21	c.234 others(38): Show c.234+9977_234+9978insAAAAAAAAAAAAAAAAAAAAA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	4/19			chr9	TogoVar
TLE3_chr15_70042790_70102917	70061883	G G	GGACTGTG others(14): Show GGACTGTGGAGACCCAGTCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02886.hp1 others(3): Show HG02486.hp2 HG02615.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0016 a0001c0005 a0001c0016	a0001c0005t0007 a0001c0005t0027 a0001c0005t0040 others(2): Show a0001c0005t0007 a0001c0005t0027 a0001c0005t0040 a0001c0005t0109 a0001c0016t0061	a0001c0005t0007g0288 a0001c0005t0027g0263 a0001c0005t0027g0290 others(3): Show a0001c0005t0007g0288 a0001c0005t0027g0263 a0001c0005t0027g0290 a0001c0005t0040g0289 a0001c0005t0109g0301 a0001c0016t0061g0050	6	384	0.0156	21	c.595 others(38): Show c.595-1235_595-1234insGGAGACTGGGTCTCCACAGTC	TLE3	ENSG00000140332.18	transcript	ENST00000451782.7	protein_coding	8/19			chr15	TogoVar
TLE4_chr9_79566965_79731882	79606187	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18983.hp1 NA18954.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0136 a0001c0001t0002g0183 a0001c0001t0001g0136 a0001c0001t0002g0183	2	258	0.0078	21	c.253 others(38): Show c.253-6451_253-6431dupTTTTTTTTTTTTTTTTTTTTT	TLE4	ENSG00000106829.21	transcript	ENST00000376552.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
TLK1_chr2_170985823_171165893	170986503	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG03540.hp2 HG02155.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0169 a0001c0001t0014g0011 a0001c0001t0001g0169 a0001c0001t0014g0011	2	266	0.0075	21	c.72 others(32): Show c.7276_*7277insATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4319		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986505	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA19005.hp1 NA20905.hp1 NA18998.hp2 NA19005.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0116 a0001c0001t0001g0139 a0001c0001t0014g0058 a0001c0001t0001g0116 a0001c0001t0001g0139 a0001c0001t0014g0058	3	266	0.0113	21	c.72 others(32): Show c.7274_*7275insATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4317		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986507	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01258.hp2 HG02622.hp2 others(3): Show HG00140.hp2 HG01258.hp2 HG02622.hp2 NA18972.hp2 NA18979.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0023 a0001c0003t0003 a0001c0001t0001 a0001c0001t0023 a0001c0003t0003	a0001c0001t0001g0075 a0001c0001t0001g0173 a0001c0001t0001g0185 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0023g0194 a0001c0003t0003g0230 a0001c0003t0003g0245	6	266	0.0226	21	c.72 others(32): Show c.7272_*7273insATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4315		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986509	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG01433.hp2 HG00280.hp1 HG00673.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0019 a0001c0001t0001 a0001c0003t0019	a0001c0001t0001g0125 a0001c0003t0019g0069 a0001c0003t0019g0070 a0001c0001t0001g0125 a0001c0003t0019g0069 a0001c0003t0019g0070	3	266	0.0113	21	c.72 others(32): Show c.7270_*7271insATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4313		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986513	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	266	0.0038	21	c.72 others(32): Show c.7266_*7267insATATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4309		chr2	TogoVar
TLK1_chr2_170985823_171165893	171080544	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18952.hp1 HG00621.hp2 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0046 a0001c0002t0002g0053	2	266	0.0075	21	c.330 others(38): Show c.330+2216_330+2236dupATTATTATTATTATTATTATT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	3/20			chr2	TogoVar
TLK1_chr2_170985823_171165893	171101346	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0263 a0001c0001t0017g0263	1	266	0.0038	21	c.258 others(40): Show c.258+16392_258+16393insTTTTTTTTTTTTTTTTTTTTT	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding	2/20			chr2	TogoVar
TLK2_chr17_62473825_62620481	62505407	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02897.hp1 HG02622.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0289 a0001c0001t0001g0241 a0001c0001t0001g0289	2	292	0.0069	21	c.82- others(38): Show c.82-15360_82-15340dupTTTTTTTTTTTTTTTTTTTTT	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLK2_chr17_62473825_62620481	62540400	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01934.hp2 HG01993.hp2 others(4): Show HG01192.hp2 HG01934.hp2 HG01993.hp2 HG02273.hp1 HG02300.hp1 NA18952.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 a0001c0002t0015 a0001c0002t0019	a0001c0002t0002g0007 a0001c0002t0002g0015 a0001c0002t0005g0006 others(4): Show a0001c0002t0002g0007 a0001c0002t0002g0015 a0001c0002t0005g0006 a0001c0002t0011g0104 a0001c0002t0011g0111 a0001c0002t0015g0037 a0001c0002t0019g0016	7	292	0.0240	21	c.531 others(38): Show c.531+4066_531+4086dupTTTTTTTTTTTTTTTTTTTTT	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLK2_chr17_62473825_62620481	62546344	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01358.hp2 others(11): Show HG01074.hp2 HG01167.hp1 HG01358.hp2 HG01928.hp2 HG02080.hp2 HG02165.hp1 HG02293.hp1 HG03041.hp1 HG03540.hp2 NA18906.hp1 NA18943.hp2 NA18973.hp2 NA19062.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0020 a0001c0001t0004g0144 a0001c0001t0004g0145 others(11): Show a0001c0001t0001g0020 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0150 a0001c0001t0012g0148 a0001c0001t0012g0151 a0001c0002t0002g0012 a0001c0002t0002g0018 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0029 a0001c0002t0002g0134	14	292	0.0480	21	c.532 others(38): Show c.532-5942_532-5941insTTTTTTTTTTTTTTTTTTTTT	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLL1_chr4_165868237_166109457	165923421	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18522.hp1 HG01891.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0003c0004t0014 a0001c0001t0004 a0003c0004t0014	a0001c0001t0004g0219 a0003c0004t0014g0147 a0001c0001t0004g0219 a0003c0004t0014g0147	2	250	0.0080	21	c.169 others(40): Show c.169+49353_169+49373dupTTTTTTTTTTTTTTTTTTTTT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TLN2_chr15_62385550_62849631	62414161	A A	AACAATAT others(14): Show AACAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0006 a0002c0035t0006	a0002c0035t0006g0124 a0002c0035t0006g0124	1	144	0.0069	21	c.-23 others(42): Show c.-238+23477_-238+23478insCAATATATATATATATATATA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62664857	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0085 a0001c0002t0004g0085	1	144	0.0069	21	c.788 others(38): Show c.788+6960_788+6980dupAAAAAAAAAAAAAAAAAAAAA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	9/58		INFO_REALIGN_3_PRIME	chr15	TogoVar

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