Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
JAKMIP3_chr10_132060946_132189858	132160367	GGGGGGGG others(19): Show GGGGGGGGTCTATTCCTGTGTCTTATT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0065 a0004c0009t0002g0065	1	147	0.0068	-26	c.222 others(45): Show c.2221-2840_2221-2815delGGGGGGTCTATTCCTGTGTCTTATTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160426	CCTCTTCC others(19): Show CCTCTTCCTGTGTGATGCTGGGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0022 a0003c0021t0001g0023	2	120	0.0167	-26	c.222 others(45): Show c.2221-2759_2221-2734delGGTCTCTTCCTGTGTGATGCTGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160476	ACCTCTCC others(19): Show ACCTCTCCCTGTGTGATGCTGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0022 a0001c0042t0022	a0001c0042t0022g0127 a0001c0042t0022g0127	1	55	0.0182	-26	c.222 others(45): Show c.2221-2680_2221-2655delCCTCTCCCTGTGTGATGCTGGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160893	GCGGTGGC others(19): Show GCGGTGGCCTCTTCCTGTGTGATGCTA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0013 a0002c0016t0013	a0002c0016t0013g0144 a0002c0016t0013g0145 a0002c0016t0013g0144 a0002c0016t0013g0145	2	143	0.0140	-26	c.222 others(45): Show c.2221-2315_2221-2290delCGGTGGCCTCTTCCTGTGTGATGCTA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161203	TGGGGGAC others(19): Show TGGGGGACCTCTCCCTGTGTGATGCTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA20905.hp2 HG00642.hp1 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0040 a0002c0004t0004g0051 a0002c0004t0004g0040 a0002c0004t0004g0051	2	137	0.0146	-26	c.222 others(45): Show c.2221-2000_2221-1975delACCTCTCCCTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161262	CCTCTCCC others(19): Show CCTCTCCCTGTGTGATGCTGGGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp2 HG01109.hp1 others(16): Show HG00738.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG02717.hp2 HG03130.hp1 HG03654.hp2 HG03831.hp1 NA18944.hp1 NA18966.hp1 NA18983.hp2 NA19088.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0009	a0002c0004 a0002c0008 a0002c0023 others(6): Show a0002c0004 a0002c0008 a0002c0023 a0002c0025 a0003c0020 a0004c0046 a0005c0012 a0005c0050 a0009c0049	a0002c0004t0003 a0002c0008t0003 a0002c0023t0003 others(9): Show a0002c0004t0003 a0002c0008t0003 a0002c0023t0003 a0002c0025t0008 a0002c0025t0030 a0003c0020t0003 a0004c0046t0007 a0005c0012t0007 a0005c0012t0010 a0005c0012t0031 a0005c0050t0032 a0009c0049t0010	a0002c0004t0003g0035 a0002c0004t0003g0037 a0002c0008t0003g0008 others(16): Show a0002c0004t0003g0035 a0002c0004t0003g0037 a0002c0008t0003g0008 a0002c0008t0003g0009 a0002c0008t0003g0010 a0002c0023t0003g0073 a0002c0025t0008g0033 a0002c0025t0030g0103 a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070 a0004c0046t0007g0091 a0005c0012t0007g0045 a0005c0012t0007g0046 a0005c0012t0007g0048 a0005c0012t0010g0004 a0005c0012t0031g0044 a0005c0050t0032g0116 a0009c0049t0010g0036	19	146	0.1301	-26	c.222 others(45): Show c.2221-1904_2221-1879delCTGGGGTGGTCTCTCCCTGTGTGATG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161441	GGGAGCCT others(19): Show GGGAGCCTCTTCCTGTGTGATGCAGGC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0015 a0003c0018t0003g0015	1	156	0.0064	-26	c.222 others(45): Show c.2221-1765_2221-1740delAGCCTCTTCCTGTGTGATGCAGGCGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM3_chr11_134064072_134157001	134093295	CCTTACAT others(19): Show CCTTACATCTTATTCATCTTGTTCCAT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	388	0.0026	-26	c.76+ others(43): Show c.76+24144_76+24169delCTTATTCATCTTGTTCCATCTTACAT	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134093816	CCTTACAT others(19): Show CCTTACATCTTATTCATCATGTTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18964.hp2 HG01433.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0055 a0001c0001t0006g0235 a0001c0001t0004g0055 a0001c0001t0006g0235	2	388	0.0052	-26	c.76+ others(43): Show c.76+24665_76+24690delCTTATTCATCATGTTCCATCTTACAT	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JAZF1_chr7_27825577_28185795	28170335	ATATGTGT others(19): Show ATATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	129	0.0078	-26	c.115 others(45): Show c.115+10102_115+10127delCACACACACACACACACACACACATA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28170337	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA20300.hp2 NA20805.hp2 HG00323.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0071	3	81	0.0370	-26	c.115 others(45): Show c.115+10100_115+10125delCACACACACACACACACACACACACA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JKAMP_chr14_59479517_59510410	59499691	TAATGTAA others(19): Show TAATGTAATTTGGTAATATAGTTTGGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01071.hp2 others(4): Show HG00140.hp2 HG01069.hp2 HG01071.hp2 HG01192.hp2 HG01433.hp2 HG02071.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0030 a0001c0001t0005g0129 a0001c0001t0005g0130 others(2): Show a0001c0001t0005g0030 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0011g0132	7	356	0.0197	-26	c.640 others(41): Show c.640+797_640+822delAATATAGTTTGGGAATGTAATTTGGT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63284857	TCACACAC others(19): Show TCACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0167 a0003c0003t0001g0167	1	16	0.0625	-26	c.334 others(45): Show c.334-20119_334-20094delTGTGTGTGTGTGTGTGTGTGTGTGTG	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63305629	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00609.hp1 others(41): Show HG00099.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG01175.hp2 HG01256.hp1 HG01515.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02165.hp2 HG02273.hp1 HG03831.hp2 NA18947.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18985.hp2 NA18988.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19054.hp2 NA19060.hp1 NA19068.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0012	a0002c0002 a0003c0003 a0003c0035 others(2): Show a0002c0002 a0003c0003 a0003c0035 a0008c0009 a0012c0014	a0002c0002t0001 a0003c0003t0001 a0003c0035t0001 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0035t0001 a0008c0009t0001 a0012c0014t0001	a0002c0002t0001g0166 a0002c0002t0001g0212 a0002c0002t0001g0286 others(41): Show a0002c0002t0001g0166 a0002c0002t0001g0212 a0002c0002t0001g0286 a0003c0003t0001g0165 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0207 a0003c0035t0001g0206 a0008c0009t0001g0188 a0008c0009t0001g0190 a0008c0009t0001g0192 a0008c0009t0001g0195 a0012c0014t0001g0177 a0012c0014t0001g0205	44	73	0.6027	-26	c.334 others(45): Show c.334-40891_334-40866delACACACACACACACACACACACACAC	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMY_chr5_79231131_79332211	79318753	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0014 a0005c0007t0014	a0005c0007t0014g0186 a0005c0007t0014g0186	1	331	0.0030	-26	c.3+ others(41): Show c.3+2445_*3+2470delTATATATAGAGAGAGAGAGAGAGAGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79318755	TATATATA others(19): Show TATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0030 a0005c0007t0030	a0005c0007t0030g0184 a0005c0007t0030g0184	1	304	0.0033	-26	c.3+ others(41): Show c.3+2447_*3+2472delTATATAGAGAGAGAGAGAGAGAGAGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79318757	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02258.hp1 HG02615.hp2 HG02135.hp1 HG02258.hp1 HG02615.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0014 a0005c0007t0037 a0001c0001t0001 a0005c0007t0014 a0005c0007t0037	a0001c0001t0001g0138 a0005c0007t0014g0187 a0005c0007t0037g0188 a0001c0001t0001g0138 a0005c0007t0014g0187 a0005c0007t0037g0188	3	259	0.0116	-26	c.3+ others(41): Show c.3+2449_*3+2474delTATAGAGAGAGAGAGAGAGAGAGAGA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JOSD2_chr19_50500998_50516191	50513561	GGGCAGAG others(19): Show GGGCAGAGACACAGTGGGGTGGACAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18973.hp2 NA19087.hp1 NA18949.hp1 NA18973.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0169 a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0169	3	374	0.0080	-26	c.-24 others(37): Show c.-2488_-2463delTCTGTCCACCCCACTGTGTCTCTGCC	JOSD2	ENSG00000161677.12	transcript	ENST00000598418.6	protein_coding		2371		chr19	TogoVar
JPH2_chr20_44101590_44192188	44162765	TATATATA others(19): Show TATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	336	0.0030	-26	c.380 others(43): Show c.380-2384_380-2359delGTGTATATATATATATATATATATAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	1/5			chr20	TogoVar
JRK_chr8_142652460_142674967	142669163	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01261.hp1 others(13): Show HG00280.hp2 HG01175.hp1 HG01261.hp1 HG01928.hp2 HG02015.hp2 HG02109.hp2 HG02683.hp2 HG02886.hp2 HG02970.hp2 HG03516.hp1 HG03540.hp1 NA18998.hp1 NA19010.hp1 NA19056.hp1 NA19068.hp1 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0005 a0004c0008 a0001c0003 a0003c0005 a0004c0008	a0001c0003t0005 a0003c0005t0007 a0003c0005t0030 others(1): Show a0001c0003t0005 a0003c0005t0007 a0003c0005t0030 a0004c0008t0012	a0001c0003t0005g0179 a0003c0005t0007g0009 a0003c0005t0030g0063 others(2): Show a0001c0003t0005g0179 a0003c0005t0007g0009 a0003c0005t0030g0063 a0004c0008t0012g0043 a0004c0008t0012g0065	16	300	0.0533	-26	c.-46 others(43): Show c.-463+743_-463+768delACACACACACACACACACACACACAC	JRK	ENSG00000234616.9	transcript	ENST00000612905.2	protein_coding	1/1			chr8	TogoVar
JUP_chr17_41749609_41791711	41762154	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGTGT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	410	0.0024	-26	c.149 others(43): Show c.1497+803_1497+828delACACTCTCTCTCTCTCTCTCTCTCTC	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding	8/13			chr17	TogoVar
KALRN_chr3_124028369_124731325	124110001	TATATATG others(19): Show TATATATGACATATATGTCATACTTTG	T T	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0041 a0001c0005t0001g0041	1	114	0.0088	-26	c.73+ others(43): Show c.73+76195_73+76220delGACATATATGTCATACTTTGATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124287770	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0002 a0001c0046t0002	a0001c0046t0002g0095 a0001c0046t0002g0095	1	7	0.1429	-26	c.970 others(45): Show c.970-10990_970-10965delATATATATATATATATATATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124287801	ATATATAT others(19): Show ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0001 a0004c0013t0002g0002 a0004c0013t0002g0001 a0004c0013t0002g0002	2	114	0.0175	-26	c.970 others(45): Show c.970-10983_970-10958delTATATATATATATATATATGTATATA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124347274	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01258.hp2 HG01515.hp1 others(3): Show HG01168.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG02165.hp2 HG03688.hp1	a0001 a0004 a0001 a0004	a0001c0008 a0001c0049 a0001c0050 others(2): Show a0001c0008 a0001c0049 a0001c0050 a0001c0051 a0004c0013	a0001c0008t0002 a0001c0049t0001 a0001c0050t0005 others(2): Show a0001c0008t0002 a0001c0049t0001 a0001c0050t0005 a0001c0051t0003 a0004c0013t0002	a0001c0008t0002g0070 a0001c0049t0001g0003 a0001c0050t0005g0026 others(3): Show a0001c0008t0002g0070 a0001c0049t0001g0003 a0001c0050t0005g0026 a0001c0051t0003g0005 a0004c0013t0002g0001 a0004c0013t0002g0002	6	19	0.3158	-26	c.177 others(41): Show c.1770+31_1770+56delGTGTGTGTGTGTGTGTGTGTGTGTGT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	10/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124495955	GTGTATGT others(19): Show GTGTATGTATGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0091 a0001c0039t0001g0091	1	106	0.0094	-26	c.483 others(43): Show c.4833-354_4833-329delGTATGTATGTATATATATATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	32/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01891.hp2 HG01975.hp2 others(2): Show HG01070.hp1 HG01891.hp2 HG01975.hp2 HG02145.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0031 a0001c0001t0001 a0001c0001t0020 a0001c0001t0031	a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0001t0001g0238 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0001t0001g0238 a0001c0001t0020g0003 a0001c0001t0031g0283	5	102	0.0490	-26	c.175 others(45): Show c.1755+5737_1755+5762delAAAAAAAAAAAAAAAAAAAAAAAAAA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14			chr2	TogoVar
KANSL1_chr17_46024916_46198429	46058733	ACACACAC others(19): Show ACACACACACACTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0079 a0004c0005t0001g0079	1	264	0.0038	-26	c.184 others(45): Show c.1848+7778_1848+7803delAGAGAGAGAGAGAGAGTGTGTGTGTG	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46058735	ACACACAC others(19): Show ACACACACACTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0306 a0003c0004t0005g0306	1	315	0.0032	-26	c.184 others(45): Show c.1848+7776_1848+7801delAGAGAGAGAGAGAGAGAGTGTGTGTG	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46058737	ACACACAC others(19): Show ACACACACTCTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show HG00140.hp1 HG00280.hp1 HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA19085.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0003c0004t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0003c0004t0005 a0003c0004t0024	a0001c0001t0001g0199 a0001c0001t0004g0200 a0003c0004t0005g0301 others(19): Show a0001c0001t0001g0199 a0001c0001t0004g0200 a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0307 a0003c0004t0005g0308 a0003c0004t0005g0309 a0003c0004t0005g0310 a0003c0004t0005g0311 a0003c0004t0005g0312 a0003c0004t0005g0313 a0003c0004t0005g0314 a0003c0004t0005g0315 a0003c0004t0005g0316 a0003c0004t0005g0317 a0003c0004t0005g0318 a0003c0004t0005g0319 a0003c0004t0005g0320 a0003c0004t0024g0300	22	295	0.0746	-26	c.184 others(45): Show c.1848+7774_1848+7799delAGAGAGAGAGAGAGAGAGAGTGTGTG	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46105880	CACACACA others(19): Show CACACACACACACAGAGCAAGGCCTTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG00639.hp2 HG01099.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0079 a0004c0005t0001g0084 a0004c0005t0001g0079 a0004c0005t0001g0084	2	320	0.0063	-26	c.129 others(47): Show c.1290-11205_1290-11180delCAAGGCCTTGCTCTGTGTGTGTGT GT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46105923	ACACACAC others(19): Show ACACACACACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0249 a0002c0003t0003g0249	1	320	0.0031	-26	c.129 others(47): Show c.1290-11248_1290-11223delGGTGTGTGTGTGTGTGTGTGTGTG TG	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL2_chr12_48648211_48687238	48649860	AAAAAAAA others(19): Show AAAAAAAAAGAAAGAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01099.hp2 others(18): Show HG00099.hp2 HG00323.hp1 HG01099.hp2 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02109.hp1 HG02735.hp2 HG03491.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03942.hp2 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0005 a0001c0003t0002 a0001c0003t0005	a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0219 others(16): Show a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0219 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0223 a0001c0003t0002g0224 a0001c0003t0002g0225 a0001c0003t0002g0226 a0001c0003t0002g0228 a0001c0003t0002g0230 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0005g0227 a0001c0003t0005g0229	21	320	0.0656	-26	c.41 others(37): Show c.4158_*4183delCTTTTTTTTTTTTCTTTCTTTTTTTT	KANSL2	ENSG00000139620.13	transcript	ENST00000420613.7	protein_coding		3350		chr12	TogoVar
KASH5_chr19_49383249_49422990	49386791	GGGGAAGG others(19): Show GGGGAAGGGAGGGGAAGGGAGGGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	352	0.0028	-26	c.-16 others(37): Show c.-1631_-1606delGGGAAGGGAGGGGAAGGGAGGGGAGA	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		1457		chr19	TogoVar
KAT14_chr20_18132863_18193035	18139633	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0073	1	124	0.0081	-26	c.-45 others(45): Show c.-454+1599_-454+1624delGTGTGTGTGTGTGTGTGTGTGTGTGT	KAT14	ENSG00000149474.15	transcript	ENST00000688188.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
KAT2B_chr3_20035446_20159404	20062247	TATATAAA others(19): Show TATATAAAATATGATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01123.hp1 others(18): Show HG00738.hp2 HG01081.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01516.hp2 HG02293.hp1 HG02615.hp2 HG03486.hp1 HG04204.hp1 NA18969.hp1 NA18975.hp1 NA18980.hp1 NA18989.hp1 NA18994.hp2 NA19009.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0022 others(18): Show a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0059 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0201 a0001c0002t0001g0228 a0001c0002t0001g0238 a0001c0002t0001g0296	21	371	0.0566	-26	c.304 others(45): Show c.304-10080_304-10055delAAATATGATATATAATATATAATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106993	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19043.hp2 HG02897.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0066 a0001c0002t0001g0042 a0001c0001t0001g0066 a0001c0002t0001g0042	2	357	0.0056	-26	c.852 others(43): Show c.852-4601_852-4576delATATATATATATATATATATATTTTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6A_chr8_41924479_42056987	41946491	TATACACA others(19): Show TATACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp2 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0153 a0001c0003t0008g0154 a0001c0003t0008g0153 a0001c0003t0008g0154	2	317	0.0063	-26	c.199 others(41): Show c.1996+74_1996+99delGTGTGTGTGTGTGTGTGTGTGTGTAT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	12/16			chr8	TogoVar
KATNAL1_chr13_30197630_30312551	30274899	GCGCGCGC others(19): Show GCGCGCGCGCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0203 a0001c0001t0203	a0001c0001t0203g0344 a0001c0001t0203g0344	1	362	0.0028	-26	c.323 others(43): Show c.323+5138_323+5163delTGTGTGTGTGTGTGTGTGCGCGCGCG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNIP_chr16_27545144_27785344	27655177	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02074.hp1 HG02132.hp2 others(13): Show HG00408.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02630.hp1 HG02965.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp2 NA18959.hp2 NA18962.hp1 NA18971.hp1 NA18995.hp2 NA19043.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0012 a0002c0002 a0001c0004 a0001c0012 a0002c0002	a0001c0004t0001 a0001c0012t0002 a0002c0002t0003 a0001c0004t0001 a0001c0012t0002 a0002c0002t0003	a0001c0004t0001g0132 a0001c0012t0002g0137 a0001c0012t0002g0143 others(13): Show a0001c0004t0001g0132 a0001c0012t0002g0137 a0001c0012t0002g0143 a0002c0002t0003g0062 a0002c0002t0003g0065 a0002c0002t0003g0068 a0002c0002t0003g0072 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0102 a0002c0002t0003g0104 a0002c0002t0003g0110 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136	16	18	0.8889	-26	c.540 others(43): Show c.540+6469_540+6494delATATATATATATATATATATATATAT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14681639	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	145	0.0069	-26	c.226 others(45): Show c.226+82418_226+82443delATATATATATATATATATTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14727450	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	4	0.2500	-26	c.226 others(47): Show c.226+128248_226+128273delTTTTTTTTTTTTTTTTTTTTTTTT TT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918699	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	142	0.0070	-26	c.227 others(45): Show c.227-41983_227-41958delAAAAAAAATATATATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14985244	TTGGTGGG others(19): Show TTGGTGGGAGGCCAAGGTGGGAGGCCA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	145	0.0069	-26	c.418 others(45): Show c.418+24370_418+24395delTGGTGGGAGGCCAAGGTGGGAGGCCA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14985245	TGGTGGGA others(19): Show TGGTGGGAGGCCAAGGTGGGAGGCCAA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18970.hp2 NA18942.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0022 a0002c0002t0001 a0002c0002t0022	a0002c0002t0001g0105 a0002c0002t0022g0077 a0002c0002t0001g0105 a0002c0002t0022g0077	2	106	0.0189	-26	c.418 others(45): Show c.418+24405_418+24430delGCCAAGGTGGGAGGCCAAGGTGGGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD4_chr11_47567197_47583970	47579984	GACACACA others(19): Show GACACACACACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	30	0.0333	-26	c.-10 others(37): Show c.-1059_-1034delGTGTGTGTGTGTGTGTGTGTGTGTGT	KBTBD4	ENSG00000123444.14	transcript	ENST00000430070.7	protein_coding		1015		chr11	TogoVar
KCNB2_chr8_72532225_72943349	72561709	ATATATAT others(19): Show ATATATATATATATATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	161	0.0062	-26	c.-93 others(43): Show c.-93-5921_-93-5896delATATATATCTATATCTATATATATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNE2_chr21_34359006_34376381	34363373	TTCTTCTT others(19): Show TTCTTCTTCCTTCTTCTTCCTTCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 NA18522.hp2 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0052 a0001c0004t0004g0051 a0001c0001t0004g0052 a0001c0004t0004g0051	2	432	0.0046	-26	c.-79 others(35): Show c.-790_-765delTCTTCTTCCTTCTTCTTCCTTCTTCC	KCNE2	ENSG00000159197.4	transcript	ENST00000290310.4	protein_coding		632		chr21	TogoVar
KCNE2_chr21_34359006_34376381	34368221	ACACACAC others(19): Show ACACACACAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	432	0.0023	-26	c.-12 others(43): Show c.-12-2245_-12-2220delCACACACAATATATATATATATATAT	KCNE2	ENSG00000159197.4	transcript	ENST00000290310.4	protein_coding	1/1			chr21	TogoVar
KCNH2_chr7_150939961_150983321	150978905	CACACACA others(19): Show CACACACACACACACACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01515.hp2 others(2): Show HG00621.hp1 HG00621.hp2 HG01515.hp2 HG01517.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0152 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0152 a0001c0003t0001g0002	5	356	0.0140	-26	c.-10 others(36): Show c.-1018_-993delATGTGTGTGTGTGTGTGTGTGTGTGT	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding		585		chr7	TogoVar

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