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
IZUMO3_chr9_24537952_24550897	24546367	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18942.hp2 NA18954.hp2 others(3): Show HG00423.hp2 NA18942.hp2 NA18954.hp2 NA18982.hp1 NA18990.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017	6	426	0.0141	-28	c.-74 others(37): Show c.-746_-719delAAGGAAGGAAGGAAGGAAGGAAGGAAGG		IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding					471		chr9	TogoVar
IZUMO4_chr19_2091915_2104590	2104134	CCCAACGC others(21): Show CCCAACGCCAAGACACCAACACTCAGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	-28	c.47 others(39): Show c.4790_*4817delCCAACGCCAAGACACCAACACTCAGACT		IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding					4545		chr19	TogoVar
JAK3_chr19_17819782_17852982	17852227	CTAAAAAT others(21): Show CTAAAAATACAAAAATTAGCCAGGCATGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0220 a0001c0001t0030g0220	1	414	0.0024	-28	c.-43 others(39): Show c.-4323_-4296delCCATGCCTGGCTAATTTTTGTATTTTTA		JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding					4246		chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6098670	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02622.hp1 others(3): Show HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG04115.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0012 a0001c0001 a0001c0009 a0001c0012	a0001c0001t0001 a0001c0009t0001 a0001c0012t0001 a0001c0001t0001 a0001c0009t0001 a0001c0012t0001	a0001c0001t0001g0011 a0001c0001t0001g0142 a0001c0001t0001g0186 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0142 a0001c0001t0001g0186 a0001c0001t0001g0211 a0001c0009t0001g0170 a0001c0012t0001g0060	6	233	0.0258	-28	c.624 others(45): Show c.624+6775_624+6802delTTCTTTCTTTCTTTCTTTCTTTCTTTCT		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20						chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147702579	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0106 a0001c0004t0006g0106	1	250	0.0040	-28	c.-14 others(49): Show c.-148-30653_-148-30626delTTTCCTTCTTTCTTTCTTTCTTTC TTTC		JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21						chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147702644	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0081	a0001c0002t0081g0212 a0001c0002t0081g0212	1	250	0.0040	-28	c.-14 others(49): Show c.-148-30718_-148-30691delTTCTCTCTCTTTCTTTCTTTCTTT CTTT		JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21						chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132159182	TTGTGGGG others(21): Show TTGTGGGGGCATCTCTCCCTGTGTGATGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(121): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009	a0001c0001 a0001c0006 a0001c0013 others(42): Show a0001c0001 a0001c0006 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0022 a0001c0032 a0001c0034 a0001c0040 a0001c0042 a0001c0048 a0002c0005 a0002c0008 a0002c0010 a0002c0016 a0002c0023 a0002c0025 a0002c0026 a0002c0029 a0002c0031 a0002c0037 a0002c0047 a0003c0002 a0003c0003 a0003c0018 a0003c0021 a0003c0038 a0003c0051 a0004c0007 a0004c0009 a0004c0011 a0004c0014 a0004c0024 a0004c0027 a0004c0028 a0004c0030 a0004c0033 a0004c0035 a0004c0036 a0004c0043 a0004c0045 a0006c0044 a0008c0039 a0009c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(78): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0006t0017 a0001c0006t0025 a0001c0013t0001 a0001c0013t0016 a0001c0013t0024 a0001c0013t0036 a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 a0001c0015t0028 a0001c0017t0003 a0001c0017t0005 a0001c0017t0027 a0001c0019t0001 a0001c0019t0003 a0001c0019t0015 a0001c0022t0002 a0001c0032t0037 a0001c0034t0001 a0001c0040t0002 a0001c0042t0023 a0001c0048t0013 a0002c0005t0001 a0002c0005t0005 a0002c0005t0010 a0002c0005t0019 a0002c0008t0018 a0002c0010t0002 a0002c0010t0009 a0002c0016t0006 a0002c0016t0014 a0002c0023t0001 a0002c0025t0008 a0002c0026t0001 a0002c0026t0026 a0002c0029t0015 a0002c0031t0039 a0002c0037t0001 a0002c0047t0022 a0003c0002t0001 a0003c0002t0002 a0003c0002t0020 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0012 a0003c0018t0002 a0003c0018t0003 a0003c0021t0001 a0003c0038t0001 a0003c0051t0001 a0004c0007t0001 a0004c0007t0002 a0004c0007t0012 a0004c0009t0002 a0004c0009t0010 a0004c0011t0001 a0004c0011t0040 a0004c0014t0001 a0004c0014t0013 a0004c0014t0031 a0004c0024t0002 a0004c0024t0006 a0004c0027t0001 a0004c0028t0002 a0004c0030t0030 a0004c0033t0002 a0004c0035t0005 a0004c0036t0001 a0004c0043t0005 a0004c0045t0001 a0006c0044t0002 a0008c0039t0002 a0009c0041t0029	a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 others(121): Show a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0001t0005g0137 a0001c0001t0006g0006 a0001c0001t0008g0100 a0001c0001t0008g0142 a0001c0001t0021g0119 a0001c0006t0017g0154 a0001c0006t0025g0153 a0001c0013t0001g0094 a0001c0013t0001g0129 a0001c0013t0016g0155 a0001c0013t0024g0078 a0001c0013t0036g0005 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0015t0005g0140 a0001c0015t0028g0017 a0001c0017t0003g0011 a0001c0017t0003g0104 a0001c0017t0005g0079 a0001c0017t0027g0012 a0001c0019t0001g0152 a0001c0019t0003g0081 a0001c0019t0015g0085 a0001c0022t0002g0062 a0001c0022t0002g0080 a0001c0032t0037g0124 a0001c0034t0001g0021 a0001c0040t0002g0025 a0001c0042t0023g0126 a0001c0048t0013g0098 a0002c0005t0001g0016 a0002c0005t0001g0049 a0002c0005t0005g0130 a0002c0005t0010g0061 a0002c0005t0010g0095 a0002c0005t0019g0138 a0002c0008t0018g0120 a0002c0010t0002g0157 a0002c0010t0002g0158 a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0016t0006g0052 a0002c0016t0006g0099 a0002c0016t0014g0143 a0002c0016t0014g0144 a0002c0023t0001g0058 a0002c0025t0008g0033 a0002c0026t0001g0106 a0002c0026t0026g0043 a0002c0029t0015g0053 a0002c0031t0039g0088 a0002c0037t0001g0139 a0002c0047t0022g0045 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0013 a0003c0002t0001g0034 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0123 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0002t0020g0093 a0003c0003t0001g0064 a0003c0003t0001g0071 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0131 a0003c0003t0002g0056 a0003c0003t0005g0072 a0003c0003t0012g0063 a0003c0018t0002g0028 a0003c0018t0002g0117 a0003c0018t0003g0015 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0038t0001g0024 a0003c0051t0001g0004 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0002g0026 a0004c0007t0002g0121 a0004c0007t0012g0067 a0004c0009t0002g0054 a0004c0009t0002g0059 a0004c0009t0002g0075 a0004c0009t0002g0145 a0004c0009t0010g0055 a0004c0011t0001g0118 a0004c0011t0001g0134 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0011t0040g0060 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0014t0013g0147 a0004c0014t0031g0150 a0004c0024t0002g0151 a0004c0024t0006g0148 a0004c0027t0001g0066 a0004c0028t0002g0065 a0004c0030t0030g0084 a0004c0033t0002g0029 a0004c0035t0005g0020 a0004c0036t0001g0039 a0004c0043t0005g0125 a0004c0045t0001g0090 a0006c0044t0002g0031 a0008c0039t0002g0133 a0009c0041t0029g0019	124	158	0.7848	-28	c.222 others(47): Show c.2221-3996_2221-3969delTGGGGGCATCTCTCCCTGTGTGATGC TG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159972	TGGTGGGG others(21): Show TGGTGGGGGTCTACTTCTATGTCTTACTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp2 HG01361.hp1 others(11): Show HG01109.hp2 HG01256.hp2 HG01361.hp1 HG02027.hp1 HG02155.hp1 HG02165.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA19081.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0017 a0002c0005 others(6): Show a0001c0001 a0001c0017 a0002c0005 a0002c0008 a0003c0003 a0003c0021 a0004c0014 a0004c0028 a0004c0045	a0001c0001t0002 a0001c0001t0005 a0001c0017t0027 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0017t0027 a0002c0005t0005 a0002c0005t0019 a0002c0008t0018 a0003c0003t0001 a0003c0021t0001 a0004c0014t0001 a0004c0028t0002 a0004c0045t0001	a0001c0001t0002g0007 a0001c0001t0002g0132 a0001c0001t0005g0137 others(11): Show a0001c0001t0002g0007 a0001c0001t0002g0132 a0001c0001t0005g0137 a0001c0017t0027g0012 a0002c0005t0005g0130 a0002c0005t0019g0138 a0002c0008t0018g0120 a0003c0003t0001g0077 a0003c0021t0001g0022 a0003c0021t0001g0023 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0028t0002g0065 a0004c0045t0001g0090	14	158	0.0886	-28	c.222 others(47): Show c.2221-3234_2221-3207delTGGGGGTCTACTTCTATGTCTTACTG GG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160301	TTCCTGTG others(21): Show TTCCTGTGTCTTATTGAGGGGGCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(20): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00738.hp2 HG01884.hp2 HG01891.hp2 HG02132.hp1 HG02451.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG03471.hp1 HG03834.hp1 HG03927.hp1 NA18952.hp1 NA18954.hp1 NA18960.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19088.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0015 a0001c0022 others(10): Show a0001c0001 a0001c0015 a0001c0022 a0001c0040 a0001c0042 a0002c0010 a0002c0025 a0003c0002 a0003c0038 a0004c0007 a0004c0009 a0004c0033 a0009c0041	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0015t0028 a0001c0022t0002 a0001c0040t0002 a0001c0042t0023 a0002c0010t0009 a0002c0025t0008 a0003c0002t0001 a0003c0002t0002 a0003c0038t0001 a0004c0007t0001 a0004c0009t0002 a0004c0009t0010 a0004c0033t0002 a0009c0041t0029	a0001c0001t0002g0114 a0001c0001t0003g0097 a0001c0001t0008g0100 others(20): Show a0001c0001t0002g0114 a0001c0001t0003g0097 a0001c0001t0008g0100 a0001c0001t0008g0142 a0001c0015t0028g0017 a0001c0022t0002g0080 a0001c0040t0002g0025 a0001c0042t0023g0126 a0002c0010t0009g0086 a0002c0010t0009g0089 a0002c0025t0008g0033 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0038t0001g0024 a0004c0007t0001g0108 a0004c0009t0002g0054 a0004c0009t0002g0075 a0004c0009t0002g0145 a0004c0009t0010g0055 a0004c0033t0002g0029 a0009c0041t0029g0019	23	158	0.1456	-28	c.222 others(47): Show c.2221-2907_2221-2880delTCCTGTGTCTTATTGAGGGGGCCTCT CC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23						chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160367	GGGGGGGG others(21): Show GGGGGGGGTCTATTCCTGTGTCTTATTGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG00642.hp1 HG01255.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0038 a0002c0004t0004g0040	2	158	0.0127	-28	c.222 others(47): Show c.2221-2836_2221-2809delGGTCTATTCCTGTGTCTTATTGAGGG GG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160652	TGGTGGGG others(21): Show TGGTGGGGGTCTACTTCTATGTCTTACTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0015 a0003c0018t0003g0015	1	158	0.0063	-28	c.222 others(47): Show c.2221-2554_2221-2527delTGGGGGTCTACTTCTATGTCTTACTG GG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160783	TGGGGGGG others(21): Show TGGGGGGGGGGTCTCCCTGTGTGATGCTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0141 a0002c0004t0004g0141	1	158	0.0063	-28	c.222 others(47): Show c.2221-2418_2221-2391delGGGTCTCCCTGTGTGATGCTGGGGGG GG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160837	TGGTGGGG others(21): Show TGGTGGGGGTCTACTTCTATGTCTTACTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02451.hp2 HG02615.hp2	a0004 a0004	a0004c0024 a0004c0035 a0004c0024 a0004c0035	a0004c0024t0006 a0004c0035t0005 a0004c0024t0006 a0004c0035t0005	a0004c0024t0006g0148 a0004c0035t0005g0020 a0004c0024t0006g0148 a0004c0035t0005g0020	2	158	0.0127	-28	c.222 others(47): Show c.2221-2369_2221-2342delTGGGGGTCTACTTCTATGTCTTACTG GG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180574	TGTGTGCG others(21): Show TGTGTGCGTGCGCGTGTGTGTGTGCGTGC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0022 a0003c0021t0001g0023	2	158	0.0127	-28	c.11 others(49): Show c.1104-1781_*1104-1754delTGTGCGTGCGCGTGTGTGTGTGCG TGCG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAZF1_chr7_27825577_28185795	28170337	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18990.hp1 NA18944.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0181 a0001c0001t0001g0087 a0001c0001t0001g0181	2	206	0.0097	-28	c.115 others(47): Show c.115+10098_115+10125delCACACACACACACACACACACACACA CA		JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4						chr7	TogoVar
JMJD1C_chr10_63162225_63470977	63305629	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0138 a0001c0001t0001g0139	2	310	0.0065	-28	c.334 others(47): Show c.334-40893_334-40866delACACACACACACACACACACACACAC AC		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25						chr10	TogoVar
JOSD1_chr22_38680543_38705943	38689118	ACACCGAC others(21): Show ACACCGACATCCCTGCAGGGGAGAAATGG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18991.hp2 NA18991.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0097 a0003c0004t0002g0097	1	376	0.0027	-28	c.315 others(38): Show c.315-17_325delCCATTTCTCCCCTGCAGGGATGTCGGTG	p.Arg others(5): Show p.Arg105fs	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding	4/5	1100/3743	315/609	105/202			chr22	TogoVar
JPH2_chr20_44101590_44192188	44162763	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02738.hp2 HG03654.hp1 others(1): Show HG02735.hp2 HG02738.hp2 HG03654.hp1 HG04184.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0007 a0001c0001t0017 a0004c0013t0003 a0001c0001t0007 a0001c0001t0017 a0004c0013t0003	a0001c0001t0007g0312 a0001c0001t0017g0105 a0001c0001t0017g0128 others(1): Show a0001c0001t0007g0312 a0001c0001t0017g0105 a0001c0001t0017g0128 a0004c0013t0003g0068	4	338	0.0118	-28	c.380 others(45): Show c.380-2384_380-2357delGTGTATATATATATATATATATATATAT		JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	1/5						chr20	TogoVar
JTB_chr1_153969269_153982674	153982312	CACACACA others(21): Show CACACACACACACACACACACACATACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02818.hp1 others(4): Show HG02145.hp2 HG02258.hp1 HG02818.hp1 HG03139.hp1 HG03209.hp2 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0022 a0001c0001t0001g0001 a0001c0001t0008g0022	7	386	0.0181	-28	c.-50 others(39): Show c.-5088_-5061delATGTATGTGTGTGTGTGTGTGTGTGTGT		JTB	ENSG00000143543.15	transcript	ENST00000271843.9	protein_coding					4639		chr1	TogoVar
KALRN_chr3_124028369_124731325	124120709	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03688.hp1 HG00438.hp1 HG03688.hp1	a0001 a0008 a0001 a0008	a0001c0050 a0008c0048 a0001c0050 a0008c0048	a0001c0050t0005 a0008c0048t0003 a0001c0050t0005 a0008c0048t0003	a0001c0050t0005g0042 a0008c0048t0003g0007 a0001c0050t0005g0042 a0008c0048t0003g0007	2	116	0.0172	-28	c.73+ others(45): Show c.73+86898_73+86925delAATATATATATATATATATATATATATA		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	511502	ATAAAAGC others(21): Show ATAAAAGCATCTCCTTTATTGGGTACTTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0216 a0004c0011t0001g0216	1	254	0.0039	-28	c.-84 others(45): Show c.-84+6750_-84+6777delAAAAGCATCTCCTTTATTGGGTACTTGT		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK2_chr19_11159270_11202545	11164710	TCATCCAT others(21): Show TCATCCATCCATCCATCCATCCATCCATC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(114): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18999.hp1 NA19007.hp1 NA19009.hp1 NA19056.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0009 a0010 a0012 a0015 a0020 a0021	a0001c0001 a0001c0002 a0001c0034 others(14): Show a0001c0001 a0001c0002 a0001c0034 a0002c0004 a0002c0005 a0002c0011 a0002c0014 a0002c0019 a0003c0003 a0004c0006 a0004c0024 a0009c0012 a0010c0021 a0012c0039 a0015c0026 a0020c0036 a0021c0035	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(28): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0027 a0001c0001t0045 a0001c0001t0051 a0001c0001t0054 a0001c0001t0064 a0001c0002t0002 a0001c0002t0013 a0001c0002t0033 a0001c0002t0060 a0001c0002t0071 a0001c0034t0004 a0002c0004t0004 a0002c0004t0007 a0002c0005t0002 a0002c0011t0014 a0002c0011t0041 a0002c0014t0007 a0002c0019t0002 a0003c0003t0014 a0003c0003t0041 a0004c0006t0004 a0004c0024t0002 a0009c0012t0014 a0010c0021t0002 a0012c0039t0004 a0015c0026t0033 a0020c0036t0004 a0021c0035t0027	a0001c0001t0002g0357 a0001c0001t0004g0149 a0001c0001t0004g0154 others(109): Show a0001c0001t0002g0357 a0001c0001t0004g0149 a0001c0001t0004g0154 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0217 a0001c0001t0004g0222 a0001c0001t0004g0226 a0001c0001t0004g0248 a0001c0001t0004g0251 a0001c0001t0004g0257 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0268 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0290 a0001c0001t0004g0299 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0318 a0001c0001t0004g0328 a0001c0001t0004g0338 a0001c0001t0004g0358 a0001c0001t0007g0003 a0001c0001t0007g0155 a0001c0001t0007g0242 a0001c0001t0007g0253 a0001c0001t0007g0258 a0001c0001t0007g0260 a0001c0001t0007g0300 a0001c0001t0007g0302 a0001c0001t0007g0347 a0001c0001t0027g0220 a0001c0001t0045g0281 a0001c0001t0051g0151 a0001c0001t0054g0032 a0001c0001t0064g0336 a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0010 a0001c0002t0002g0031 a0001c0002t0002g0045 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0124 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0360 a0001c0002t0002g0375 a0001c0002t0002g0376 a0001c0002t0002g0379 a0001c0002t0002g0380 a0001c0002t0002g0381 a0001c0002t0013g0080 a0001c0002t0013g0120 a0001c0002t0013g0332 a0001c0002t0013g0362 a0001c0002t0013g0368 a0001c0002t0013g0377 a0001c0002t0033g0111 a0001c0002t0060g0083 a0001c0002t0071g0030 a0001c0034t0004g0317 a0002c0004t0004g0201 a0002c0004t0007g0145 a0002c0004t0007g0199 a0002c0005t0002g0072 a0002c0011t0014g0348 a0002c0011t0041g0349 a0002c0014t0007g0196 a0002c0019t0002g0344 a0003c0003t0014g0051 a0003c0003t0014g0133 a0003c0003t0014g0134 a0003c0003t0014g0354 a0003c0003t0041g0351 a0004c0006t0004g0203 a0004c0006t0004g0204 a0004c0006t0004g0205 a0004c0024t0002g0374 a0009c0012t0014g0355 a0010c0021t0002g0075 a0012c0039t0004g0144 a0015c0026t0033g0386 a0020c0036t0004g0322 a0021c0035t0027g0329	117	394	0.2970	-28	c.18 others(39): Show c.1820_*1847delGATGGATGGATGGATGGATGGATGGATG		KANK2	ENSG00000197256.11	transcript	ENST00000586659.6	protein_coding	13/13				1820		chr19	TogoVar
KANK2_chr19_11159270_11202545	11174146	CCTGGGAG others(21): Show CCTGGGAGGGTGGCATCTCCTCCATCAGA	C C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0310 a0001c0001t0021g0310	1	394	0.0025	-28	c.206 others(45): Show c.2068+299_2068+326delTCTGATGGAGGAGATGCCACCCTCCCAG		KANK2	ENSG00000197256.11	transcript	ENST00000586659.6	protein_coding	9/12						chr19	TogoVar
KANK2_chr19_11159270_11202545	11195701	GTCTCTCC others(21): Show GTCTCTCCACGTCTCTGTCTCTCTGCGTC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02630.hp1 NA19043.hp2 HG02145.hp1 HG02630.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044	a0001c0001t0042g0186 a0001c0001t0043g0185 a0001c0001t0044g0184 a0001c0001t0042g0186 a0001c0001t0043g0185 a0001c0001t0044g0184	3	394	0.0076	-28	c.-18 others(37): Show c.-187_-160delGACGCAGAGAGACAGAGACGTGGAGAGA		KANK2	ENSG00000197256.11	transcript	ENST00000586659.6	protein_coding	2/13				1191		chr19	TogoVar
KANK3_chr19_8317584_8348262	8345703	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA20300.hp1 NA18906.hp2 NA20300.hp1	a0016 a0019 a0016 a0019	a0016c0027 a0019c0023 a0016c0027 a0019c0023	a0016c0027t0001 a0019c0023t0005 a0016c0027t0001 a0019c0023t0005	a0016c0027t0001g0140 a0019c0023t0005g0200 a0016c0027t0001g0140 a0019c0023t0005g0200	2	406	0.0049	-28	c.-25 others(39): Show c.-2535_-2508delTATATATATATATATATACACACACACA		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding					2442		chr19	TogoVar
KANK3_chr19_8317584_8348262	8345709	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01109.hp2 others(52): Show HG00099.hp2 HG01074.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03942.hp1 NA18941.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18964.hp2 NA18993.hp2 NA19011.hp2 NA19030.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0014 a0018	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0014c0020 a0018c0021	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0002 a0006c0006t0002 a0014c0020t0004 a0018c0021t0004	a0001c0001t0001g0089 a0002c0002t0001g0381 a0003c0003t0001g0011 others(50): Show a0001c0001t0001g0089 a0002c0002t0001g0381 a0003c0003t0001g0011 a0003c0003t0001g0267 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0326 a0004c0004t0002g0009 a0004c0004t0002g0010 a0004c0004t0002g0268 a0004c0004t0002g0269 a0004c0004t0002g0270 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0002g0274 a0004c0004t0002g0275 a0004c0004t0002g0277 a0004c0004t0002g0279 a0004c0004t0002g0288 a0004c0004t0002g0289 a0004c0004t0002g0291 a0004c0004t0002g0297 a0004c0004t0002g0298 a0004c0004t0002g0300 a0004c0004t0002g0301 a0004c0004t0002g0304 a0004c0004t0002g0306 a0004c0004t0002g0307 a0004c0004t0002g0308 a0004c0004t0002g0309 a0006c0006t0002g0278 a0006c0006t0002g0280 a0006c0006t0002g0281 a0006c0006t0002g0282 a0006c0006t0002g0283 a0006c0006t0002g0284 a0006c0006t0002g0285 a0006c0006t0002g0286 a0006c0006t0002g0290 a0006c0006t0002g0292 a0006c0006t0002g0293 a0006c0006t0002g0294 a0006c0006t0002g0295 a0006c0006t0002g0296 a0006c0006t0002g0299 a0006c0006t0002g0302 a0006c0006t0002g0305 a0006c0006t0002g0311 a0006c0006t0002g0312 a0006c0006t0002g0313 a0006c0006t0002g0338 a0014c0020t0004g0382 a0018c0021t0004g0310	55	406	0.1355	-28	c.-25 others(39): Show c.-2541_-2514delTATATATATATATATATATATATACACA		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding					2448		chr19	TogoVar
KANK4_chr1_62231165_62324434	62278320	TCTTCCTT others(21): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0179 a0002c0004t0010g0179	1	322	0.0031	-28	c.16+ others(43): Show c.16+3201_16+3228delGAAGGAAGGAAGGAAGGAAGGAAGGAAG		KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9						chr1	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00639.hp2 others(49): Show HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG01975.hp1 HG01981.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02451.hp1 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG03927.hp2 HG04228.hp1 NA18522.hp2 NA18978.hp2 NA18983.hp1 NA19000.hp2 NA19009.hp1 NA19030.hp1 NA19054.hp2 NA19082.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0003t0011 a0003c0005t0003	a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0066 others(49): Show a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0247 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0115 a0001c0001t0002g0237 a0001c0001t0003g0015 a0001c0001t0004g0257 a0001c0001t0007g0268 a0001c0001t0008g0005 a0001c0001t0010g0161 a0001c0001t0010g0162 a0001c0001t0010g0163 a0001c0001t0011g0212 a0001c0001t0016g0277 a0001c0001t0023g0026 a0001c0001t0025g0044 a0001c0003t0011g0235 a0003c0005t0003g0020	52	284	0.1831	-28	c.175 others(47): Show c.1755+5735_1755+5762delAAAAAAAAAAAAAAAAAAAAAAAAAA AA		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14						chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210079642	ATATATAT others(21): Show ATATATATATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG03130.hp2 HG02630.hp2 HG02922.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0022g0025 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0022g0025	3	284	0.0106	-28	c.155 others(47): Show c.1551-3914_1551-3887delCATACATATATATATATATATATATA TA		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14						chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210079674	GTATATAT others(21): Show GTATATATATATATATATGTATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0212 a0001c0001t0011g0212	1	284	0.0035	-28	c.155 others(47): Show c.1551-3946_1551-3919delTACACACATACATATATATATATATA TA		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14						chr2	TogoVar
KANSL1_chr17_46024916_46198429	46058731	ACACACAC others(21): Show ACACACACACACACTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01074.hp1 others(4): Show HG00099.hp2 HG00639.hp2 HG01074.hp1 HG01515.hp2 HG01517.hp1 HG03831.hp2 NA20752.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0077 a0004c0005t0001g0080 a0004c0005t0001g0081 others(4): Show a0004c0005t0001g0077 a0004c0005t0001g0080 a0004c0005t0001g0081 a0004c0005t0001g0082 a0004c0005t0001g0083 a0004c0005t0001g0084 a0004c0005t0001g0085	7	321	0.0218	-28	c.184 others(47): Show c.1848+7778_1848+7805delAGAGAGAGAGAGAGAGTGTGTGTGTG TG		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46058737	ACACACAC others(21): Show ACACACACTCTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02523.hp2 NA18956.hp2 others(1): Show HG02258.hp1 HG02523.hp2 NA18956.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0003 a0001c0001t0006 a0002c0003t0003	a0001c0001t0006g0231 a0002c0003t0003g0250 a0002c0003t0003g0287 others(1): Show a0001c0001t0006g0231 a0002c0003t0003g0250 a0002c0003t0003g0287 a0002c0003t0003g0289	4	321	0.0125	-28	c.184 others(47): Show c.1848+7772_1848+7799delAGAGAGAGAGAGAGAGAGAGAGTGTG TG		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46105878	CACACACA others(21): Show CACACACACACACACAGAGCAAGGCCTTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02602.hp2 HG00733.hp2 HG02602.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0005 a0004c0005t0001 a0003c0004t0005 a0004c0005t0001	a0003c0004t0005g0316 a0004c0005t0001g0078 a0003c0004t0005g0316 a0004c0005t0001g0078	2	321	0.0062	-28	c.129 others(49): Show c.1290-11205_1290-11178delCAAGGCCTTGCTCTGTGTGTGTGT GTGT		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14						chr17	TogoVar
KAT14_chr20_18132863_18193035	18139648	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18950.hp2 NA18953.hp2 others(4): Show NA18941.hp2 NA18950.hp2 NA18953.hp2 NA18973.hp1 NA18993.hp1 NA18999.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 others(4): Show a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116	7	346	0.0202	-28	c.-45 others(47): Show c.-454+1599_-454+1626delGTGTGTGTGTGTGTGTGTGTGTGTGT TT		KAT14	ENSG00000149474.15	transcript	ENST00000688188.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
KAT2B_chr3_20035446_20159404	20106961	GTATATAT others(21): Show GTATATATATATATATATGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03491.hp1 HG03492.hp2 others(2): Show HG02683.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03927.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0010 a0001c0004 a0005c0010	a0001c0004t0001 a0005c0010t0001 a0001c0004t0001 a0005c0010t0001	a0001c0004t0001g0093 a0001c0004t0001g0161 a0001c0004t0001g0162 others(2): Show a0001c0004t0001g0093 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0292 a0005c0010t0001g0368	5	374	0.0134	-28	c.852 others(45): Show c.852-4617_852-4590delGTATATATATATATATATATATATATAT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106991	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02257.hp1 HG03669.hp2 HG01192.hp1 HG02257.hp1 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0007 a0001c0004t0001 a0001c0004t0007	a0001c0004t0001g0276 a0001c0004t0007g0200 a0001c0004t0007g0251 a0001c0004t0001g0276 a0001c0004t0007g0200 a0001c0004t0007g0251	3	374	0.0080	-28	c.852 others(45): Show c.852-4603_852-4576delATATATATATATATATATATATATTTTT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6B_chr10_74821600_75037624	74830758	ATATATAT others(21): Show ATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp2 HG02559.hp2 HG03516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0001 a0004c0004t0002	a0004c0004t0001g0012 a0004c0004t0002g0013 a0004c0004t0001g0012 a0004c0004t0002g0013	2	236	0.0085	-28	c.-32 others(47): Show c.-329+3975_-329+4002delATATATATATTTTTTTTTTTTTTTTT TT		KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
KATNAL1_chr13_30197630_30312551	30205925	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0234 a0001c0001t0129g0234	1	386	0.0026	-28	c.25 others(39): Show c.2587_*2614delACACACACACACACACACACACACACAC		KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	11/11				2587		chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30274881	GCACACAC others(21): Show GCACACACATACGCGCGCGCGCGCGCGCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02300.hp2 HG02258.hp1 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0143 a0001c0002t0207 a0001c0002t0143 a0001c0002t0207	a0001c0002t0143g0236 a0001c0002t0207g0288 a0001c0002t0143g0236 a0001c0002t0207g0288	2	386	0.0052	-28	c.323 others(45): Show c.323+5154_323+5181delTGCGCGCGCGCGCGCGCGTATGTGTGTG		KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10						chr13	TogoVar
KATNIP_chr16_27545144_27785344	27655177	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03209.hp2 HG02622.hp2 HG03209.hp2	a0002 a0004 a0002 a0004	a0002c0029 a0004c0007 a0002c0029 a0004c0007	a0002c0029t0003 a0004c0007t0010 a0002c0029t0003 a0004c0007t0010	a0002c0029t0003g0101 a0004c0007t0010g0108 a0002c0029t0003g0101 a0004c0007t0010g0108	2	152	0.0132	-28	c.540 others(45): Show c.540+6467_540+6494delATATATATATATATATATATATATATAT		KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27					INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27661965	TATATATA others(21): Show TATATATATATATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG02965.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0135 a0002c0002t0003g0136	2	152	0.0132	-28	c.540 others(47): Show c.540+13252_540+13279delCACATACATATATATATATATATATA TA		KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27					INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14681635	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03041.hp2 HG03209.hp2 HG02257.hp1 HG03041.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0013 a0002c0002t0001g0126 a0002c0002t0001g0128	3	146	0.0206	-28	c.226 others(47): Show c.226+82414_226+82441delATATATATATATATATATATATTTTT TT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15050028	GGGTAGGG others(21): Show GGGTAGGGTAGGGTAGGGTAGGGTAGGGT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	146	0.0069	-28	c.726 others(45): Show c.726+5870_726+5897delGGTAGGGTAGGGTAGGGTAGGGTAGGGT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14						chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1969307	GTATTTAT others(21): Show GTATTTATAAATTTTATATGGAAAATGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01099.hp1 others(4): Show HG00642.hp2 HG00735.hp2 HG01099.hp1 HG01515.hp2 HG02818.hp2 HG03490.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0220 a0001c0001t0003g0026 a0001c0001t0006g0045 others(4): Show a0001c0001t0001g0220 a0001c0001t0003g0026 a0001c0001t0006g0045 a0001c0001t0006g0051 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0033	7	389	0.0180	-28	c.-55 others(39): Show c.-5536_-5509delTATTTATAAATTTTATATGGAAAATGTA		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					4369		chr8	TogoVar
KCNH1_chr1_210673314_211139148	210673762	ATTATTTA others(21): Show ATTATTTATTTATTTATTTATTTATTTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG03471.hp2 others(1): Show HG01884.hp2 HG02451.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0040 a0001c0001t0002g0143 a0001c0001t0002g0157 others(1): Show a0001c0001t0002g0040 a0001c0001t0002g0143 a0001c0001t0002g0157 a0001c0001t0005g0035	4	164	0.0244	-28	c.94 others(39): Show c.9491_*9518delATAAATAAATAAATAAATAAATAAATAA		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding					4551		chr1	TogoVar
KCNH2_chr7_150939961_150983321	150978903	CACACACA others(21): Show CACACACACACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02027.hp2 HG02040.hp1 others(12): Show HG00738.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02165.hp1 HG02723.hp1 HG03654.hp1 NA18939.hp2 NA18945.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18983.hp1 NA19058.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0098 a0001c0001t0001g0153 a0001c0002t0001g0165 a0001c0003t0001g0002 a0001c0003t0001g0007 a0001c0003t0001g0055 a0001c0008t0001g0085 a0001c0008t0001g0092	15	358	0.0419	-28	c.-10 others(38): Show c.-1018_-991delATGTGTGTGTGTGTGTGTGTGTGTGTGT		KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding					583		chr7	TogoVar
KCNH8_chr3_19143510_19540642	19260487	GATATATA others(21): Show GATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	134	0.0075	-28	c.310 others(45): Show c.310+6620_310+6647delTATATATATATATATATATATATATATA		KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19308693	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	134	0.0075	-28	c.442 others(47): Show c.442+27372_442+27399delTCTCTCTCTCTCTCTCTCCCCCTCTC TC		KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19308709	TCTCTCTC others(21): Show TCTCTCTCTCCCCCTCTCTCCCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19091.hp1 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0116 a0001c0001t0002g0033 a0001c0001t0001g0116 a0001c0001t0002g0033	2	134	0.0149	-28	c.442 others(47): Show c.442+27388_442+27415delTCCCCCTCTCTCCCTCTCTCCCTCTC TC		KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170674161	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG03579.hp2 HG02970.hp2 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0109 a0001c0001t0002g0216 a0001c0001t0006g0125 a0001c0001t0002g0109 a0001c0001t0002g0216 a0001c0001t0006g0125	3	218	0.0138	-28	c.62- others(45): Show c.62-44593_62-44566delAAGGAAGGAAGGAAGGAAGGGAGGGAGG		KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar

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