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 per page.

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
KLHL31_chr6_53642916_53670756	53665967	A A	AGAAAAGA others(20): Show AGAAAAGAAAAGAAAAGAAAGAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01099.hp2 HG01891.hp1 others(3): Show HG01071.hp2 HG01099.hp2 HG01891.hp1 HG02145.hp2 HG02896.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0010 a0001c0002t0020 others(2): Show a0001c0002t0004 a0001c0002t0010 a0001c0002t0020 a0001c0002t0052 a0001c0002t0057	a0001c0002t0004g0004 a0001c0002t0004g0057 a0001c0002t0010g0055 others(3): Show a0001c0002t0004g0004 a0001c0002t0004g0057 a0001c0002t0010g0055 a0001c0002t0020g0007 a0001c0002t0052g0250 a0001c0002t0057g0227	6	420	0.0143	27	c.-40 others(36): Show c.-401_-400insCTTCTTTCTTTCTTTTCTTTTCTTTTC		KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding					212		chr6	TogoVar
KLHL31_chr6_53642916_53670756	53666076	G G	GAAAGAGA others(20): Show GAAAGAGAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0246 a0004c0007t0004g0246	1	420	0.0024	27	c.-51 others(36): Show c.-510_-509insTTCTTTCTTTCTTTCTTTCTTCTCTTT		KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding					321		chr6	TogoVar
KLHL32_chr6_96919728_97145753	97055796	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03942.hp1 NA19011.hp1 others(2): Show HG02300.hp1 HG03942.hp1 NA19011.hp1 NA19056.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0024 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0024 a0001c0001t0003g0013 a0001c0001t0003g0020	5	244	0.0205	27	c.313 others(44): Show c.313-8806_313-8805insAAAAAAAAAAAAAAAAAAAAAAAAAAA		KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL33_chr14_20420852_20441166	20420874	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG04228.hp1 HG02056.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0119 a0001c0001t0001 a0001c0001t0119	a0001c0001t0001g0048 a0001c0001t0119g0266 a0001c0001t0001g0048 a0001c0001t0119g0266	2	480	0.0042	27	c.79 others(38): Show c.7974_*7975insAAATATATATATATATATATATATATA		KLHL33	ENSG00000185271.9	transcript	ENST00000636854.3	protein_coding					4977		chr14	TogoVar
KLHL33_chr14_20420852_20441166	20432926	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18957.hp1 NA18979.hp1 HG00140.hp2 NA18957.hp1 NA18979.hp1	a0004 a0006 a0004 a0006	a0004c0003 a0006c0006 a0004c0003 a0006c0006	a0004c0003t0078 a0006c0006t0007 a0004c0003t0078 a0006c0006t0007	a0004c0003t0078g0190 a0006c0006t0007g0127 a0006c0006t0007g0128 a0004c0003t0078g0190 a0006c0006t0007g0127 a0006c0006t0007g0128	3	480	0.0063	27	c.748 others(44): Show c.748+2137_748+2138insCTTTCTTTCTTTCTTTCTTTCTTTCTT		KLHL33	ENSG00000185271.9	transcript	ENST00000636854.3	protein_coding	2/4						chr14	TogoVar
KLHL6_chr3_183482551_183560706	183525265	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0214 a0001c0002t0002g0214	1	298	0.0034	27	c.459 others(44): Show c.459+2579_459+2580insGTGTGTGTGTGTGTGTGTGTGTGTGTG		KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	2/6						chr3	TogoVar
KLHL6_chr3_183482551_183560706	183534073	C C	CCTTTAAA others(20): Show CCTTTAAAAGTACTTTACTTTTAAAGTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00621.hp2 others(21): Show HG00099.hp2 HG00280.hp2 HG00621.hp2 HG00735.hp2 HG01070.hp2 HG01169.hp1 HG01192.hp1 HG01891.hp2 HG02145.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02735.hp2 HG02976.hp2 HG03540.hp2 HG03579.hp2 HG04228.hp2 NA18955.hp1 NA18979.hp2 NA19030.hp1 NA19060.hp2 NA19077.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0104 a0001c0001t0109 a0001c0002t0002 a0001c0004t0017 a0001c0004t0027 a0001c0005t0009 a0001c0005t0050 a0001c0005t0058 a0001c0008t0044 a0001c0008t0045 a0001c0010t0041 a0001c0015t0022	a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0132 others(19): Show a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0007g0164 a0001c0001t0008g0158 a0001c0001t0104g0067 a0001c0001t0109g0166 a0001c0002t0002g0285 a0001c0004t0017g0001 a0001c0004t0027g0289 a0001c0004t0027g0292 a0001c0005t0009g0251 a0001c0005t0009g0252 a0001c0005t0009g0287 a0001c0005t0050g0242 a0001c0005t0058g0249 a0001c0008t0044g0288 a0001c0008t0045g0291 a0001c0010t0041g0076 a0001c0015t0022g0290	24	298	0.0805	27	c.294 others(44): Show c.294-6090_294-6064dupTACTTTAAAAGTAAAGTACTTTTAAAG		KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6						chr3	TogoVar
KLK5_chr19_50938303_50958038	50949797	C C	CCGTCCCC others(20): Show CCGTCCCCACCAGCCCTCACCTCCATGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(179): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02896.hp1 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(142): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0005g0002 a0001c0001t0005g0008 a0001c0001t0005g0067 a0001c0001t0005g0075 a0001c0001t0005g0083 a0001c0001t0005g0090 a0001c0001t0005g0093 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0007g0322 a0001c0001t0008g0046 a0001c0001t0011g0032 a0001c0003t0001g0057 a0002c0002t0001g0051	182	380	0.4790	27	c.335 others(40): Show c.335+57_335+58insTCATGGAGGTGAGGGCTGGTGGGGACG		KLK5	ENSG00000167754.13	transcript	ENST00000336334.8	protein_coding	3/5						chr19	TogoVar
KLK6_chr19_50953631_50974591	50959712	A A	AGAGGAGG others(20): Show AGAGGAGGAAGAGGAGGAGGAAGAGGAG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	316	0.0032	27	c.583 others(42): Show c.583-423_583-397dupCTCCTCTTCCTCCTCCTCTTCCTCCTC		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar
KLK8_chr19_50991008_51006604	50991738	G G	GACTCCAT others(20): Show GACTCCATCTCAGGAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00597.hp1 others(71): Show HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01928.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02976.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG06807.hp1 NA18944.hp2 NA18951.hp1 NA18954.hp1 NA18966.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18983.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19055.hp1 NA19060.hp2 NA19063.hp1 NA19077.hp2 NA19078.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(41): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0003g0162	74	420	0.1762	27	c.43 others(38): Show c.4320_*4321insTTTTTTTTTTTTTTCCTGAGATGGAGT		KLK8	ENSG00000129455.16	transcript	ENST00000695909.1	protein_coding					4269		chr19	TogoVar
KLRB1_chr12_9589551_9612916	9607353	T T	TTTCTTCC others(20): Show TTTCTTCCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0305 a0002c0002t0001g0305	1	436	0.0023	27	c.85+ others(40): Show c.85+401_85+402insGAAAGAAAGAAAGAAAGAAAGGAAGAA		KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5						chr12	TogoVar
KMT2E_chr7_105009205_105120019	105071608	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	304	0.0033	27	c.498 others(44): Show c.498-2010_498-2009insATATATATATATATATATATATATATT		KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	6/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT2E_chr7_105009205_105120019	105071608	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	304	0.0033	27	c.498 others(44): Show c.498-2010_498-2009insATATATATATATATATATATATATTTT		KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	6/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
KPNA5_chr6_116676211_116746867	116710894	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	344	0.0029	27	c.657 others(44): Show c.657-5325_657-5324insATATATATATATATATATATATATATA		KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	7/13						chr6	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02523.hp1 HG02074.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0199 a0001c0002t0002g0200 a0001c0002t0001g0199 a0001c0002t0002g0200	2	388	0.0052	27	c.-21 others(42): Show c.-21+936_-21+962dupTTTTTTTTTTTTTTTTTTTTTTTTTTT		KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1						chr17	TogoVar
KREMEN1_chr22_29068035_29151820	29120308	G G	GGGAGGAG others(20): Show GGGAGGAGGGAGAGGTGATGAAGGAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02723.hp2 HG02886.hp1 others(3): Show HG01192.hp2 HG02723.hp2 HG02886.hp1 HG03139.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0068 a0001c0005t0014 a0001c0005t0023 others(2): Show a0001c0002t0068 a0001c0005t0014 a0001c0005t0023 a0001c0005t0050 a0001c0005t0051	a0001c0002t0068g0013 a0001c0005t0014g0313 a0001c0005t0023g0311 others(3): Show a0001c0002t0068g0013 a0001c0005t0014g0313 a0001c0005t0023g0311 a0001c0005t0023g0312 a0001c0005t0050g0233 a0001c0005t0051g0310	6	368	0.0163	27	c.353 others(44): Show c.353-1029_353-1028insAGGAAATGGAGGAGGGAGAGGTGATGA		KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120414	A A	AGGAAATG others(20): Show AGGAAATGGAGGAGGGAGAGGTGATGAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0330 a0003c0004t0010g0330	1	368	0.0027	27	c.353 others(42): Show c.353-938_353-937insTGGAGGAGGGAGAGGTGATGATGGAAA		KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
KREMEN1_chr22_29068035_29151820	29120441	G G	GAAGGAAA others(20): Show GAAGGAAATGGAGGAGGGAGAGGTGATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00558.hp2 others(21): Show HG00099.hp2 HG00408.hp2 HG00558.hp2 HG01069.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp1 HG01928.hp2 HG01978.hp1 HG02056.hp2 HG02080.hp2 HG02300.hp1 HG02698.hp1 NA18950.hp1 NA18955.hp2 NA18963.hp2 NA18966.hp1 NA18986.hp1 NA18998.hp2 NA19003.hp1 NA19010.hp1 NA19086.hp1 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0005c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 a0001c0002t0022 a0001c0002t0024 a0001c0002t0027 a0003c0006t0007 a0003c0006t0045 a0005c0008t0036 a0005c0008t0056	a0001c0001t0001g0079 a0001c0002t0001g0005 a0001c0002t0001g0025 others(19): Show a0001c0001t0001g0079 a0001c0002t0001g0005 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0052 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0114 a0001c0002t0003g0045 a0001c0002t0004g0056 a0001c0002t0018g0004 a0001c0002t0022g0031 a0001c0002t0022g0037 a0001c0002t0022g0044 a0001c0002t0022g0057 a0001c0002t0024g0109 a0001c0002t0027g0032 a0003c0006t0007g0030 a0003c0006t0045g0075 a0005c0008t0036g0244 a0005c0008t0036g0245 a0005c0008t0056g0241	24	368	0.0652	27	c.353 others(42): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATAA		KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
KRI1_chr19_10548085_10571010	10570547	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18969.hp2 NA19076.hp2 others(1): Show NA18951.hp1 NA18969.hp2 NA19076.hp2 NA19085.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0001c0008 a0018c0027 a0001c0001 a0001c0008 a0018c0027	a0001c0001t0001 a0001c0008t0001 a0018c0027t0001 a0001c0001t0001 a0001c0008t0001 a0018c0027t0001	a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0008t0001g0053 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0008t0001g0053 a0018c0027t0001g0065	4	406	0.0099	27	c.-45 others(38): Show c.-4549_-4548insTTTTTTTTTTTTTTTTTTTTTTTTTTT		KRI1	ENSG00000129347.21	transcript	ENST00000312962.12	protein_coding					4538		chr19	TogoVar
KRT10_chr17_40813117_40827614	40818962	T T	TGCCGCCG others(20): Show TGCCGCCGTGGCCGCCGCTGGAGCTTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp2 HG00741.hp2 HG01069.hp2 others(23): Show HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01361.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp2 HG03225.hp1 HG03579.hp2 HG06807.hp2 NA18747.hp1 NA18947.hp2 NA19059.hp2 NA19070.hp2 NA19076.hp1 NA19086.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0006 a0007c0006t0001g0039 a0007c0006t0001g0006 a0007c0006t0001g0039	26	426	0.0610	27	c.154 others(36): Show c.1546_1572dupGGAAGCTCCAGCGGCGGCCACGGCGGC	p.Gly others(40): Show p.Gly524_Ser525insGlySerSerSerGlyGlyHisGlyGly	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding	7/8	1601/2143	1572/1755	524/584			chr17	TogoVar
KRT31_chr17_41388721_41402608	41398911	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0004 a0009c0016t0004	a0009c0016t0004g0025 a0009c0016t0004g0025	1	453	0.0022	27	c.-13 others(38): Show c.-1373_-1372insATATATATATATATATATATATATATA		KRT31	ENSG00000094796.5	transcript	ENST00000251645.3	protein_coding					1304		chr17	TogoVar
KRT31_chr17_41388721_41402608	41398912	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0043 a0002c0002t0010g0043	1	453	0.0022	27	c.-13 others(38): Show c.-1374_-1373insTATATATATATATATATATATATATAT		KRT31	ENSG00000094796.5	transcript	ENST00000251645.3	protein_coding					1305		chr17	TogoVar
KRT35_chr17_41471710_41486151	41475627	C C	CAAAAAGA others(20): Show CAAAAAGACCAACACGGAGGTGACGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	27	c.14 others(38): Show c.1428_*1429insTGGCGTCACCTCCGTGTTGGTCTTTTT		KRT35	ENSG00000197079.9	transcript	ENST00000246639.7	protein_coding					1082		chr17	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599134	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	27	c.-14 others(38): Show c.-1488_-1487insCTCTCTCTCTCTCTCTCTCTCTCTCTC		KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding					1462		chr21	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599134	T T	TTCTTCTC others(20): Show TTCTTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	27	c.-14 others(38): Show c.-1488_-1487insTCTTCTCTCTCTCTCTCTCTCTCTCTC		KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding					1462		chr21	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAGGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	421	0.0024	27	c.-11 others(38): Show c.-1137_-1136insTTTCTTTCTTTCCTTCTTTCTTTCTTT		KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding					1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(20): Show GAAAGAAAGGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0000 a0012c0016t0001g0000	1	421	0.0024	27	c.-11 others(38): Show c.-1137_-1136insTTCTTTCTTTCTTTCTTTCCTTTCTTT		KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding					1081		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	413	0.0024	27	c.49 others(38): Show c.4943_*4944insTTTCCTTCTTTCTTTCTTTCTTTCTTT		KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding					4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAGGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	413	0.0024	27	c.49 others(38): Show c.4943_*4944insTTTCTTTCTTTCCTTCTTTCTTTCTTT		KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding					4522		chr17	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051217	A A	ATATATAA others(20): Show ATATATAATATATTATGTATAGTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19056.hp2 NA19007.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	407	0.0049	27	c.-39 others(38): Show c.-3951_-3950insATTTTACTATACATAATATATTATATA		KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding					3902		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051217	A A	ATATATAA others(20): Show ATATATAATATATTATGTATAGTAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19011.hp2 NA19056.hp1 NA19007.hp1 NA19011.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	411	0.0073	27	c.36 others(38): Show c.3622_*3623insATTTTACTATACATAATATATTATATA		KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding					3280		chr17	TogoVar
KRTAP21-2_chr21_30741794_30752259	30749541	G G	GACAAAGA others(20): Show GACAAAGAACATGAATAGACATTTTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	380	0.0026	27	c.-23 others(38): Show c.-2340_-2339insTGGAAAATGTCTATTCATGTTCTTTGT		KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding					2283		chr21	TogoVar
KRTAP4-4_chr17_41154649_41165748	41164699	T T	TTTTTCAT others(20): Show TTTTTCATGTGTCTATGTTAACTACCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	420	0.0024	27	c.-40 others(38): Show c.-4009_-4008insTCGGTAGTTAACATAGACACATGAAAA		KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding					3952		chr17	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583879	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	429	0.0023	27	c.53 others(36): Show c.533_*534insACACACACACACACACACACACACACA		KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding					462		chr11	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583917	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	429	0.0023	27	c.49 others(36): Show c.495_*496insCACACACACACACACACACACACACAC		KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding					424		chr11	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583918	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	429	0.0023	27	c.49 others(36): Show c.494_*495insACACACACACACACACACACACACACA		KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding					423		chr11	TogoVar
KRTAP9-1_chr17_41184887_41195639	41190343	T T	TGCTGTGG others(20): Show TGCTGTGGGTCCAGCTGCTGCCAGCCTA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(435): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0009 a0002c0002 others(6): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0005c0005 a0006c0006 a0007c0011 a0008c0007 a0010c0008	a0001c0001t0000 a0001c0009t0000 a0002c0002t0000 others(6): Show a0001c0001t0000 a0001c0009t0000 a0002c0002t0000 a0004c0004t0000 a0005c0005t0000 a0006c0006t0000 a0007c0011t0000 a0008c0007t0000 a0010c0008t0000	a0001c0001t0000g0000 a0001c0009t0000g0000 a0002c0002t0000g0000 others(6): Show a0001c0001t0000g0000 a0001c0009t0000g0000 a0002c0002t0000g0000 a0004c0004t0000g0000 a0005c0005t0000g0000 a0006c0006t0000g0000 a0007c0011t0000g0000 a0008c0007t0000g0000 a0010c0008t0000g0000	438	460	0.9522	27	c.483 others(34): Show c.483_484insAGCTGTGGGTCCAGCTGCTGCCAGCCT	p.Pro others(40): Show p.Pro161_Cys162insSerCysGlySerSerCysCysGlnPro	KRTAP9-1	ENSG00000240542.6	transcript	ENST00000398470.1	protein_coding	1/1	484/753	484/753	162/250		INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR1_chr17_27451448_27631435	27526044	T T	TTTCTTTT others(20): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	246	0.0041	27	c.232 others(46): Show c.232-24523_232-24522insTCTTTTCTTTTCTTTTCTTTTCTTTC T		KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR1_chr17_27451448_27631435	27563981	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	246	0.0041	27	c.372 others(46): Show c.372+13298_372+13299insTTTTTTTTTTTTTTTTTTTTTTTTTT T		KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR2_chr12_117448012_117973990	117812842	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0150 a0001c0001t0119g0150	1	196	0.0051	27	c.472 others(46): Show c.472+42585_472+42586insTTTTTTTTTTTTTTTTTTTTTTTTTT T		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19						chr12	TogoVar
KSR2_chr12_117448012_117973990	117971094	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0080 a0001c0003t0080	a0001c0003t0080g0068 a0001c0003t0080g0068	1	196	0.0051	27	c.-28 others(38): Show c.-2840_-2839insTTTTTTTTTTTTTTTTTTTTTTTTTTT		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding					2105		chr12	TogoVar
L1CAM_chrX_153856516_153891173	153859490	A A	AGGAAGGA others(20): Show AGGAAGGAAGGAAGGAAGGAAAGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	283	0.0035	27	c.31 others(38): Show c.3172_*3173insCTTCCCTTTCCTTCCTTCCTTCCTTCC		L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding					2025		chrX	TogoVar
L1TD1_chr1_62189849_62217328	62197397	T T	TTTATATA others(20): Show TTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0367 a0002c0007t0009g0367	1	414	0.0024	27	c.-11 others(44): Show c.-111+870_-111+871insTATATATATATATATATATATATATAT		L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
L3MBTL4_chr18_5949717_6419911	6118208	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	94	0.0106	27	c.119 others(48): Show c.1199+19985_1199+19986insGTGTGTGTGTGTGTGTGTGTGTGT GTG		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6391752	A A	AACAACAA others(20): Show AACAACAACTACTACTACTACTACTACT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	94	0.0106	27	c.-91 others(46): Show c.-91+23048_-91+23049insAGTAGTAGTAGTAGTAGTAGTTGTTG T		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	1/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6391752	A A	AACTACTA others(20): Show AACTACTACTACTACTACTACTACTACT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG02922.hp1 others(2): Show HG00639.hp1 HG00673.hp2 HG02922.hp1 HG03130.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0002 a0002c0002t0001 a0002c0006t0001 a0001c0001t0002 a0002c0002t0001 a0002c0006t0001	a0001c0001t0002g0028 a0001c0001t0002g0037 a0002c0002t0001g0035 others(2): Show a0001c0001t0002g0028 a0001c0001t0002g0037 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0006t0001g0036	5	94	0.0532	27	c.-91 others(46): Show c.-91+23022_-91+23048dupAGTAGTAGTAGTAGTAGTAGTAGTAG T		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	1/18						chr18	TogoVar
LAMA2_chr6_128878138_129521566	128921713	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0034 a0034	a0034c0055 a0034c0055	a0034c0055t0002 a0034c0055t0002	a0034c0055t0002g0030 a0034c0055t0002g0030	1	88	0.0114	27	c.112 others(46): Show c.112+38356_112+38357insTTTTTTTTTTTTTTTTTTTTTTTTTA A		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64						chr6	TogoVar
LAMA2_chr6_128878138_129521566	129314398	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03710.hp1 NA19060.hp1 HG02965.hp2 HG03710.hp1 NA19060.hp1	a0013 a0014 a0013 a0014	a0013c0065 a0013c0069 a0014c0008 a0013c0065 a0013c0069 a0014c0008	a0013c0065t0004 a0013c0069t0004 a0014c0008t0002 a0013c0065t0004 a0013c0069t0004 a0014c0008t0002	a0013c0065t0004g0072 a0013c0069t0004g0068 a0014c0008t0002g0085 a0013c0065t0004g0072 a0013c0069t0004g0068 a0014c0008t0002g0085	3	88	0.0341	27	c.341 others(44): Show c.3412-236_3412-235insAAAAAAAAAAAAAAAAAAAAAAAAAAA		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	23/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62317267	C C	CCAGACCA others(20): Show CCAGACCAGCTGGCCCTCCCAAGGCCCT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0085 a0001c0007t0001g0085	1	186	0.0054	27	c.751 others(42): Show c.7511+51_7511+77dupAGGGCCTTGGGAGGGCCAGCTGGTCTG		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	55/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349686	A A	ATGATGGT others(20): Show ATGATGGTGATGGTGGGGGTGATGATGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0031 a0031	a0031c0070 a0031c0070	a0031c0070t0001 a0031c0070t0001	a0031c0070t0001g0050 a0031c0070t0001g0050	1	186	0.0054	27	c.956 others(44): Show c.956+2017_956+2018insCCATCATCACCCCCACCATCACCATCA		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar

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