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
JAKMIP3_chr10_132060946_132189858	132161022	T T	TGGTGGGG others(21): Show TGGTGGGGGTCTACTTCTATGTCTTACTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	158	0.0063	28	c.222 others(47): Show c.2221-2185_2221-2184insTGGGGGTCTACTTCTATGTCTTACTG GG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161812	T T	TGGGGGGT others(21): Show TGGGGGGTGTCTCTCCCTGTGTGATGCTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19091.hp2 HG01981.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0013 a0003c0003 a0001c0013 a0003c0003	a0001c0013t0001 a0003c0003t0001 a0001c0013t0001 a0003c0003t0001	a0001c0013t0001g0094 a0003c0003t0001g0076 a0001c0013t0001g0094 a0003c0003t0001g0076	2	158	0.0127	28	c.222 others(47): Show c.2221-1391_2221-1390insTGTCTCTCCCTGTGTGATGCTGGGGG GG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132167871	C C	CCCCTCGC others(21): Show CCCCTCGCCCCCCTCACCCCTCGGCCTCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0008 a0002c0025t0008	a0002c0025t0008g0033 a0002c0025t0008g0033	1	158	0.0063	28	c.23 others(41): Show c.23-72_*23-71insCCTCACCCCTCGGCCTCGCCCTCGCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660759	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0299 a0001c0001t0005g0299	1	328	0.0031	28	c.67+ others(45): Show c.67+20895_67+20896insATATATATATATATATATATATATATAT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0215 a0001c0001t0045g0215	1	328	0.0031	28	c.67+ others(45): Show c.67+20895_67+20896insATATATATATATATATATATATATATTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03540.hp2 NA19074.hp1 HG02970.hp1 HG03540.hp2 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0001c0001t0008 a0003c0004t0044 a0001c0001t0006 a0001c0001t0008 a0003c0004t0044	a0001c0001t0006g0088 a0001c0001t0008g0223 a0003c0004t0044g0111 a0001c0001t0006g0088 a0001c0001t0008g0223 a0003c0004t0044g0111	3	328	0.0092	28	c.67+ others(45): Show c.67+20895_67+20896insATATATATATATATATATATATATTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 NA20129.hp1 HG00738.hp2 HG01192.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0015 a0002c0003t0007 a0001c0001t0001 a0001c0001t0015 a0002c0003t0007	a0001c0001t0001g0135 a0001c0001t0015g0232 a0002c0003t0007g0146 a0001c0001t0001g0135 a0001c0001t0015g0232 a0002c0003t0007g0146	3	328	0.0092	28	c.67+ others(45): Show c.67+20895_67+20896insATATATATATATATATATATATTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JARID2_chr6_15241069_15527042	15469361	C C	CTCTCCTC others(21): Show CTCTCCTCCCCTTCTCCCCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	284	0.0035	28	c.670 others(43): Show c.670+643_670+644insTCTCCTCCCCTTCTCCCCCTCTCCCCCT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17			chr6	TogoVar
JARID2_chr6_15241069_15527042	15486806	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	284	0.0035	28	c.671 others(43): Show c.671-483_671-482insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(21): Show GACACAGACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG02145.hp1 others(13): Show HG00323.hp2 HG00735.hp1 HG02145.hp1 HG02572.hp1 HG02818.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03688.hp1 HG03710.hp1 NA18906.hp1 NA18953.hp1 NA18959.hp2 NA18994.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0021	a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0088 others(13): Show a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0192 a0001c0001t0002g0015 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0009g0027 a0001c0001t0021g0127	16	206	0.0777	28	c.386 others(45): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTGTCTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849772	C C	CACACACA others(21): Show CACACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG03225.hp1 HG02109.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0196 a0001c0001t0002g0018 a0001c0001t0015g0180 a0001c0001t0001g0196 a0001c0001t0002g0018 a0001c0001t0015g0180	3	206	0.0146	28	c.386 others(45): Show c.386-8906_386-8905insATATGTGTGTGTGTGTGTGTGTGTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27898304	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02027.hp2 HG01167.hp1 HG01169.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0022g0206 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0022g0206	3	206	0.0146	28	c.189 others(45): Show c.189-2889_189-2888insGTATATATATATATATATATATATATAT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JKAMP_chr14_59479517_59510410	59508399	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG01243.hp1 others(8): Show HG00423.hp1 HG01081.hp1 HG01243.hp1 HG01516.hp2 HG01978.hp2 HG03486.hp1 HG03654.hp1 HG03942.hp2 NA18981.hp1 NA18989.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0002g0005 others(7): Show a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0034 a0001c0001t0002g0059 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0009g0003	11	358	0.0307	28	c.43 others(39): Show c.4327_*4328insACACACACACACACACACACACACACAC	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding		2990		chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63243103	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01515.hp2 HG03704.hp2 HG01257.hp2 HG01515.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0271 a0002c0002t0001g0286 a0002c0002t0001g0224 a0002c0002t0001g0271 a0002c0002t0001g0286	3	310	0.0097	28	c.447 others(47): Show c.447+21547_447+21548insTATATATATATATATATATATATATA TA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63248529	G G	GATAGATA others(21): Show GATAGATAGATAGATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	310	0.0032	28	c.447 others(47): Show c.447+16121_447+16122insTTATTTATTTATTTATCTATCTATCT AT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63292144	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG01261.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0240 a0002c0002t0001g0241	2	310	0.0065	28	c.334 others(47): Show c.334-27381_334-27380insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD6_chr17_76713451_76731606	76728412	A A	ATTTGTTT others(21): Show ATTTGTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG03209.hp1 others(2): Show HG01891.hp2 HG02630.hp2 HG03209.hp1 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0059 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0001t0001g0060	5	440	0.0114	28	c.-19 others(39): Show c.-1938_-1937insAAAAAAAAAAAAAAAAAAAAAAAACAAA	JMJD6	ENSG00000070495.15	transcript	ENST00000397625.9	protein_coding		1807		chr17	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	386	0.0026	28	c.65- others(43): Show c.65-1325_65-1324insATATATATATATATATATATATTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	386	0.0026	28	c.65- others(43): Show c.65-1325_65-1324insATATATATATATATATATTTTTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JOSD1_chr22_38680543_38705943	38689912	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18982.hp1 NA18970.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0102 a0001c0002t0009g0111 a0001c0002t0002g0102 a0001c0002t0009g0111	2	376	0.0053	28	c.186 others(43): Show c.186-516_186-489dupCACACACACACACACACACACACACACA	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding	2/4			chr22	TogoVar
JPH1_chr8_74229700_74326540	74296019	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01099.hp2 others(11): Show HG00408.hp1 HG00673.hp2 HG01099.hp2 HG02165.hp2 HG02273.hp2 HG04115.hp1 NA18940.hp2 NA18949.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA19000.hp1 NA19056.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0003 a0001c0001t0002g0082 a0001c0001t0002g0185 others(9): Show a0001c0001t0002g0003 a0001c0001t0002g0082 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0229 a0001c0001t0026g0198	14	330	0.0424	28	c.113 others(49): Show c.1139+18841_1139+18842insGTGTGTGTGTGTGTGTGTGTGTGT GTGT	JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	2/5			chr8	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG00741.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0006 a0002c0005t0004 a0002c0002t0006 a0002c0005t0004	a0002c0002t0006g0171 a0002c0005t0004g0206 a0002c0002t0006g0171 a0002c0005t0004g0206	2	338	0.0059	28	c.117 others(47): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTTC CT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(21): Show GAGGGAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19066.hp2 HG02922.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0009 a0001c0006 a0002c0009	a0001c0006t0105 a0002c0009t0024 a0001c0006t0105 a0002c0009t0024	a0001c0006t0105g0313 a0002c0009t0024g0065 a0001c0006t0105g0313 a0002c0009t0024g0065	2	338	0.0059	28	c.117 others(47): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTCC CT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0066 a0002c0002t0003g0066	1	338	0.0030	28	c.117 others(47): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTCCCTCC CT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG02055.hp1 others(7): Show HG00642.hp1 HG01192.hp1 HG02055.hp1 HG02109.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02896.hp1 NA18522.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 a0001c0001 a0002c0002 a0002c0009	a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0009t0029 a0002c0009t0074	a0001c0001t0001g0236 a0001c0001t0012g0150 a0002c0002t0003g0024 others(7): Show a0001c0001t0001g0236 a0001c0001t0012g0150 a0002c0002t0003g0024 a0002c0002t0003g0032 a0002c0002t0004g0231 a0002c0002t0004g0234 a0002c0002t0006g0153 a0002c0009t0029g0272 a0002c0009t0029g0274 a0002c0009t0074g0173	10	338	0.0296	28	c.117 others(47): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTCCCTCCCTCC CT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87659374	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0176 a0001c0007t0001g0176	1	380	0.0026	28	c.116 others(49): Show c.1160+14351_1160+14352insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JSRP1_chr19_2247252_2261417	2259312	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	436	0.0023	28	c.-29 others(39): Show c.-2961_-2960insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding		2896		chr19	TogoVar
KALRN_chr3_124028369_124731325	124110057	T T	TATATATA others(21): Show TATATATATGACATATATGTCATACTTTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp2 HG02559.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0068 a0005c0077 a0001c0068 a0005c0077	a0001c0068t0013 a0005c0077t0001 a0001c0068t0013 a0005c0077t0001	a0001c0068t0013g0063 a0005c0077t0001g0061 a0001c0068t0013g0063 a0005c0077t0001g0061	2	116	0.0172	28	c.73+ others(45): Show c.73+76253_73+76280dupGACATATATGTCATACTTTGATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124110255	G G	GTCATACT others(21): Show GTCATACTTTGATATATATATGACATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0019 a0001c0062t0019	a0001c0062t0019g0074 a0001c0062t0019g0074	1	116	0.0086	28	c.73+ others(45): Show c.73+76444_73+76471dupCATACTTTGATATATATATGACATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124110285	G G	GTCATACT others(21): Show GTCATACTTTGATATATATATGACATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19030.hp1 HG01243.hp2 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0030 a0001c0007 a0001c0030	a0001c0007t0003 a0001c0030t0002 a0001c0007t0003 a0001c0030t0002	a0001c0007t0003g0101 a0001c0030t0002g0109 a0001c0007t0003g0101 a0001c0030t0002g0109	2	116	0.0172	28	c.73+ others(45): Show c.73+76474_73+76501dupCATACTTTGATATATATATGACATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03209.hp2 NA18522.hp1 others(1): Show HG00438.hp1 HG03209.hp2 NA18522.hp1 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0044 a0001c0062 others(1): Show a0001c0001 a0001c0044 a0001c0062 a0008c0048	a0001c0001t0003 a0001c0044t0015 a0001c0062t0019 others(1): Show a0001c0001t0003 a0001c0044t0015 a0001c0062t0019 a0008c0048t0003	a0001c0001t0003g0010 a0001c0044t0015g0080 a0001c0062t0019g0074 others(1): Show a0001c0001t0003g0010 a0001c0044t0015g0080 a0001c0062t0019g0074 a0008c0048t0003g0007	4	116	0.0345	28	c.456 others(43): Show c.456+622_456+623insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124495957	G G	GTATATAT others(21): Show GTATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0018 a0001c0023t0018	a0001c0023t0018g0038 a0001c0023t0018g0038	1	116	0.0086	28	c.483 others(45): Show c.4833-351_4833-350insATATATATATATATATATATGTATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	32/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124623399	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0001 a0001c0072t0001	a0001c0072t0001g0060 a0001c0072t0001g0060	1	116	0.0086	28	c.518 others(47): Show c.5183-9019_5183-8992dupCACACACACACACACACACACACACA CA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124659153	G G	GGAGGAAG others(21): Show GGAGGAAGGCAGGAAGCCAGTGGTGATGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0012 a0001c0041t0012	a0001c0041t0012g0105 a0001c0041t0012g0105	1	116	0.0086	28	c.612 others(45): Show c.6124-210_6124-183dupAGGAAGGCAGGAAGCCAGTGGTGATGTG	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	42/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	516998	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	254	0.0039	28	c.-84 others(47): Show c.-84+12246_-84+12273dupCACACACACACACACACACACACACA CA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	671509	T T	TGGTCTGT others(21): Show TGGTCTGTGCCTGTAGTCCCAGCTAATCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.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 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032	a0001c0001 a0001c0053 a0001c0054 others(56): Show a0001c0001 a0001c0053 a0001c0054 a0001c0058 a0001c0059 a0001c0061 a0002c0002 a0002c0007 a0002c0044 a0002c0045 a0003c0003 a0003c0015 a0003c0050 a0004c0005 a0004c0011 a0004c0033 a0004c0034 a0004c0037 a0005c0004 a0005c0049 a0006c0018 a0006c0019 a0006c0030 a0006c0031 a0006c0039 a0006c0040 a0006c0041 a0007c0014 a0007c0025 a0007c0028 a0008c0006 a0009c0008 a0009c0057 a0010c0013 a0010c0023 a0011c0022 a0011c0035 a0011c0036 a0012c0009 a0014c0012 a0015c0021 a0015c0032 a0016c0016 a0017c0024 a0018c0017 a0019c0027 a0020c0026 a0021c0029 a0022c0042 a0023c0038 a0024c0043 a0025c0060 a0026c0048 a0027c0051 a0028c0056 a0029c0055 a0030c0047 a0031c0046 a0032c0062	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(80): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0053t0003 a0001c0054t0008 a0001c0058t0004 a0001c0059t0002 a0001c0061t0001 a0002c0002t0002 a0002c0002t0003 a0002c0007t0001 a0002c0007t0002 a0002c0044t0015 a0002c0045t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0011 a0003c0015t0001 a0003c0050t0004 a0004c0005t0001 a0004c0011t0001 a0004c0011t0006 a0004c0033t0001 a0004c0034t0001 a0004c0037t0008 a0005c0004t0002 a0005c0004t0005 a0005c0004t0006 a0005c0049t0003 a0006c0018t0001 a0006c0018t0002 a0006c0019t0001 a0006c0019t0005 a0006c0030t0013 a0006c0031t0002 a0006c0039t0007 a0006c0040t0001 a0006c0041t0007 a0007c0014t0001 a0007c0014t0002 a0007c0025t0002 a0007c0028t0001 a0008c0006t0002 a0009c0008t0005 a0009c0008t0006 a0009c0057t0001 a0010c0013t0001 a0010c0023t0001 a0011c0022t0001 a0011c0035t0001 a0011c0036t0001 a0012c0009t0001 a0012c0009t0008 a0012c0009t0014 a0014c0012t0002 a0014c0012t0012 a0015c0021t0006 a0015c0032t0002 a0016c0016t0001 a0017c0024t0005 a0017c0024t0007 a0018c0017t0001 a0018c0017t0007 a0019c0027t0004 a0019c0027t0010 a0020c0026t0001 a0020c0026t0002 a0021c0029t0007 a0022c0042t0002 a0023c0038t0001 a0024c0043t0001 a0025c0060t0002 a0026c0048t0003 a0027c0051t0003 a0028c0056t0003 a0029c0055t0003 a0030c0047t0002 a0031c0046t0002 a0032c0062t0005	a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0040 others(236): Show a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0117 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0214 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0054 a0001c0001t0002g0080 a0001c0001t0002g0112 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0171 a0001c0001t0002g0203 a0001c0001t0002g0211 a0001c0001t0003g0006 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0036 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0101 a0001c0001t0003g0108 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0170 a0001c0001t0003g0185 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0221 a0001c0001t0004g0013 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0029 a0001c0001t0004g0033 a0001c0001t0004g0044 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0099 a0001c0001t0004g0116 a0001c0001t0004g0121 a0001c0001t0004g0136 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0167 a0001c0001t0004g0179 a0001c0001t0004g0181 a0001c0001t0004g0188 a0001c0001t0004g0199 a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0004g0227 a0001c0001t0005g0107 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0243 a0001c0001t0009g0052 a0001c0053t0003g0251 a0001c0054t0008g0077 a0001c0058t0004g0134 a0001c0059t0002g0184 a0001c0061t0001g0125 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0022 a0002c0002t0002g0041 a0002c0002t0002g0058 a0002c0002t0002g0114 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0127 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0152 a0002c0002t0002g0160 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0178 a0002c0002t0002g0187 a0002c0002t0002g0189 a0002c0002t0002g0213 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0244 a0002c0002t0003g0001 a0002c0002t0003g0025 a0002c0002t0003g0028 a0002c0002t0003g0142 a0002c0002t0003g0144 a0002c0002t0003g0161 a0002c0002t0003g0182 a0002c0002t0003g0246 a0002c0002t0003g0250 a0002c0007t0001g0138 a0002c0007t0002g0123 a0002c0007t0002g0143 a0002c0007t0002g0145 a0002c0007t0002g0254 a0002c0044t0015g0081 a0002c0045t0003g0197 a0003c0003t0001g0038 a0003c0003t0001g0046 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0059 a0003c0003t0001g0098 a0003c0003t0001g0113 a0003c0003t0001g0166 a0003c0003t0001g0172 a0003c0003t0001g0177 a0003c0003t0001g0183 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0002g0057 a0003c0003t0002g0150 a0003c0003t0004g0115 a0003c0003t0011g0017 a0003c0015t0001g0157 a0003c0015t0001g0209 a0003c0015t0001g0210 a0003c0050t0004g0207 a0004c0005t0001g0092 a0004c0005t0001g0106 a0004c0005t0001g0190 a0004c0005t0001g0191 a0004c0005t0001g0192 a0004c0005t0001g0193 a0004c0005t0001g0195 a0004c0011t0001g0216 a0004c0011t0006g0002 a0004c0033t0001g0104 a0004c0034t0001g0096 a0004c0037t0008g0194 a0005c0004t0002g0083 a0005c0004t0005g0109 a0005c0004t0005g0158 a0005c0004t0005g0173 a0005c0004t0005g0237 a0005c0004t0005g0238 a0005c0004t0005g0247 a0005c0004t0006g0151 a0005c0004t0006g0220 a0005c0004t0006g0224 a0005c0049t0003g0253 a0006c0018t0001g0236 a0006c0018t0002g0222 a0006c0019t0001g0009 a0006c0019t0005g0105 a0006c0030t0013g0215 a0006c0031t0002g0004 a0006c0039t0007g0110 a0006c0040t0001g0062 a0006c0041t0007g0231 a0007c0014t0001g0073 a0007c0014t0001g0103 a0007c0014t0002g0085 a0007c0025t0002g0091 a0007c0025t0002g0230 a0007c0028t0001g0074 a0007c0028t0001g0075 a0008c0006t0002g0060 a0008c0006t0002g0061 a0008c0006t0002g0067 a0008c0006t0002g0071 a0008c0006t0002g0097 a0008c0006t0002g0245 a0009c0008t0005g0003 a0009c0008t0006g0087 a0009c0008t0006g0088 a0009c0008t0006g0111 a0009c0008t0006g0218 a0009c0057t0001g0065 a0010c0013t0001g0064 a0010c0013t0001g0066 a0010c0013t0001g0068 a0010c0023t0001g0063 a0010c0023t0001g0100 a0011c0022t0001g0217 a0011c0022t0001g0219 a0011c0035t0001g0223 a0011c0036t0001g0024 a0012c0009t0001g0008 a0012c0009t0008g0229 a0012c0009t0008g0233 a0012c0009t0014g0084 a0014c0012t0002g0072 a0014c0012t0012g0094 a0015c0021t0006g0005 a0015c0021t0006g0235 a0015c0032t0002g0089 a0016c0016t0001g0226 a0016c0016t0001g0232 a0016c0016t0001g0234 a0017c0024t0005g0090 a0017c0024t0007g0093 a0018c0017t0001g0082 a0018c0017t0007g0078 a0019c0027t0004g0030 a0019c0027t0010g0014 a0020c0026t0001g0007 a0020c0026t0002g0228 a0021c0029t0007g0102 a0022c0042t0002g0086 a0023c0038t0001g0011 a0024c0043t0001g0225 a0025c0060t0002g0249 a0026c0048t0003g0252 a0027c0051t0003g0039 a0028c0056t0003g0035 a0029c0055t0003g0163 a0030c0047t0002g0212 a0031c0046t0002g0174 a0032c0062t0005g0128	239	254	0.9409	28	c.-83 others(45): Show c.-83-5379_-83-5378insTCTGTGCCTGTAGTCCCAGCTAATCGGG	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG03041.hp2 HG01884.hp1 HG02109.hp2 HG03041.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0060 a0008c0006t0002g0061 a0008c0006t0002g0067 a0008c0006t0002g0060 a0008c0006t0002g0061 a0008c0006t0002g0067	3	254	0.0118	28	c.-83 others(45): Show c.-83-5263_-83-5262insAAAAAAAAAAAAAAAAAAAAGAAGAAAA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0219 a0001c0015t0001g0219	1	406	0.0025	28	c.-28 others(45): Show c.-28-2436_-28-2435insGTGTGTGTATATATATATATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00408.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0216 a0001c0001t0001g0217	2	406	0.0049	28	c.-28 others(45): Show c.-28-2436_-28-2435insGTGTGTATATATATATATATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA19002.hp2 NA19068.hp1 HG03654.hp2 NA19002.hp2 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0003c0003t0001g0042 a0001c0001t0001g0204 a0001c0001t0001g0205 a0003c0003t0001g0042	3	406	0.0074	28	c.-28 others(45): Show c.-28-2436_-28-2435insGTGTATATATATATATATATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp1 HG02145.hp2 others(9): Show HG00609.hp1 HG02015.hp1 HG02145.hp2 HG03041.hp1 HG03225.hp1 NA18942.hp1 NA18963.hp1 NA18983.hp1 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA19078.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0007c0007 a0010c0017 a0001c0001 a0007c0007 a0010c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0007c0007t0001 a0010c0017t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 others(9): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0003g0179 a0001c0001t0005g0177 a0001c0001t0005g0180 a0001c0001t0005g0183 a0007c0007t0001g0085 a0007c0007t0001g0086 a0007c0007t0001g0178 a0007c0007t0001g0185 a0010c0017t0001g0018	12	406	0.0296	28	c.-28 others(45): Show c.-28-2436_-28-2435insGTATATATATATATATATATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANSL1L_chr2_210016421_210176409	210162222	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02717.hp2 HG02895.hp1 others(2): Show HG01975.hp1 HG02717.hp2 HG02895.hp1 HG03209.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0011 a0001c0001t0001 a0001c0001t0006 a0001c0003t0011	a0001c0001t0001g0089 a0001c0001t0001g0234 a0001c0001t0006g0242 others(2): Show a0001c0001t0001g0089 a0001c0001t0001g0234 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0003t0011g0236	5	284	0.0176	28	c.-29 others(45): Show c.-29-7612_-29-7611insTATATATATATATATATATATATATATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	1/14			chr2	TogoVar
KANSL1_chr17_46024916_46198429	46091812	A A	AGTATGTA others(21): Show AGTATGTATGTATGTATGTATGTAGGTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp2 others(18): Show HG00140.hp1 HG00280.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02109.hp2 HG02257.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0024 a0003c0004t0005 a0003c0004t0024	a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(18): Show a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0005g0308 a0003c0004t0005g0309 a0003c0004t0005g0310 a0003c0004t0005g0311 a0003c0004t0005g0312 a0003c0004t0005g0313 a0003c0004t0005g0314 a0003c0004t0005g0315 a0003c0004t0005g0316 a0003c0004t0005g0317 a0003c0004t0005g0318 a0003c0004t0005g0319 a0003c0004t0005g0320 a0003c0004t0024g0300	21	321	0.0654	28	c.143 others(47): Show c.1431+2747_1431+2748insATACCTACATACATACATACATACAT AC	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	3/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46091812	A A	AGTATGTA others(21): Show AGTATGTATGTATGTATGTATGTATGTAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0025 a0003c0004t0025	a0003c0004t0025g0321 a0003c0004t0025g0321	1	321	0.0031	28	c.143 others(47): Show c.1431+2747_1431+2748insATACATACATACATACATACATACAT AC	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	3/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19088.hp2 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0179 a0001c0001t0002g0139 a0001c0001t0002g0179	2	321	0.0062	28	c.129 others(47): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL3_chr2_96588172_96643312	96615165	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	340	0.0029	28	c.664 others(45): Show c.664-1547_664-1546insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	5/20			chr2	TogoVar
KARS1_chr16_75622724_75652665	75624114	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	380	0.0026	28	c.37 others(39): Show c.3780_*3781insATATATATATATATATATATATATATAT	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3609		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20081878	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02698.hp2 NA18983.hp2 HG02630.hp1 HG02698.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0014 a0001c0002t0001g0115 a0001c0002t0002g0351 a0001c0001t0001g0014 a0001c0002t0001g0115 a0001c0002t0002g0351	3	374	0.0080	28	c.430 others(45): Show c.430+9431_430+9432insATATATATATATATATATATATATATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01975.hp1 HG02165.hp1 others(9): Show HG00323.hp2 HG01975.hp1 HG02165.hp1 HG02273.hp1 HG02809.hp1 HG04228.hp1 NA18612.hp2 NA18942.hp1 NA18944.hp1 NA19001.hp2 NA19063.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0044 a0001c0001t0002g0056 a0001c0001t0002g0103 others(9): Show a0001c0001t0002g0044 a0001c0001t0002g0056 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0214 a0001c0001t0002g0238 a0001c0002t0002g0016 a0001c0002t0002g0097 a0001c0002t0002g0176 a0001c0002t0002g0295 a0001c0002t0002g0333 a0001c0002t0002g0348	12	374	0.0321	28	c.230 others(47): Show c.2305+1033_2305+1034insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0127 a0001c0004t0012g0127	1	374	0.0027	28	c.-26 others(39): Show c.-2688_-2687insATATATATATATATATATATATATTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar

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