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	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
HPSE2_chr10_98452077_99240852	99132192	AGAGAGAG others(38): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	142	0.0070	-45	c.610 others(64): Show c.610+12001_610+12045delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTC		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11						chr10	TogoVar
HS3ST4_chr16_25686959_26142685	26134004	GACTGTAT others(38): Show GACTGTATAATGGCATTCTAAGCTTAATTTTATCATTGATAAGCCT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0097 a0001c0001t0020g0097	1	164	0.0061	-45	c.735 others(62): Show c.735-1607_735-1563delACTGTATAATGGCATTCTAAGCTTAATT TTATCATTGATAAGCCT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1						chr16	TogoVar
HSF1_chr8_144286604_144319720	144313660	GCCGCGCC others(38): Show GCCGCGCCGCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCGC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	330	0.0030	-45	c.124 others(60): Show c.1248+46_1248+90delCGCGCCGCCCCGCCTCCCCGCCCCGCCTCC CCGCCTCCCCGCGCC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
IGF2R_chr6_159964082_160116504	160100723	CCTTTTTT others(38): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG02109.hp2 others(14): Show HG00408.hp1 HG00423.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG03209.hp1 HG03688.hp1 HG03927.hp2 NA18948.hp1 NA18960.hp1 NA18967.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0016 a0020 a0038 a0041	a0001c0001 a0001c0004 a0001c0005 others(7): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003 a0003c0030 a0004c0006 a0016c0022 a0020c0052 a0038c0059 a0041c0056	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0004t0020 a0001c0005t0092 a0002c0003t0001 a0002c0003t0014 a0002c0003t0060 a0003c0030t0025 a0004c0006t0002 a0016c0022t0038 a0016c0022t0040 a0020c0052t0025 a0038c0059t0001 a0041c0056t0001	a0001c0001t0001g0301 a0001c0001t0008g0042 a0001c0001t0014g0300 others(14): Show a0001c0001t0001g0301 a0001c0001t0008g0042 a0001c0001t0014g0300 a0001c0004t0020g0253 a0001c0005t0092g0025 a0002c0003t0001g0255 a0002c0003t0001g0260 a0002c0003t0001g0276 a0002c0003t0014g0177 a0002c0003t0060g0215 a0003c0030t0025g0257 a0004c0006t0002g0072 a0016c0022t0038g0275 a0016c0022t0040g0270 a0020c0052t0025g0227 a0038c0059t0001g0179 a0041c0056t0001g0214	17	310	0.0548	-45	c.684 others(64): Show c.6843-1795_6843-1751delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	45/47						chr6	TogoVar
IL17REL_chr22_49986811_50017765	49998601	TTGCATGG others(38): Show TTGCATGGGTGTCATGGGTATGGGTGTGCGTGAGTGTGCCTGCCTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp1 NA18955.hp1 others(1): Show HG00280.hp1 HG01074.hp1 NA18955.hp1 NA18964.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0018 a0003c0004 a0004c0018	a0003c0004t0016 a0004c0018t0016 a0003c0004t0016 a0004c0018t0016	a0003c0004t0016g0068 a0003c0004t0016g0071 a0003c0004t0016g0074 others(1): Show a0003c0004t0016g0068 a0003c0004t0016g0071 a0003c0004t0016g0074 a0004c0018t0016g0088	4	440	0.0091	-45	c.818 others(60): Show c.818-337_818-293delCAGGCAGGCACACTCACGCACACCCATACC CATGACACCCATGCA		IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	9/14						chr22	TogoVar
IL1RAPL1_chrX_28582446_29961718	29335260	ACGGAGAC others(38): Show ACGGAGACGGAGACGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00621.hp1 others(53): Show HG00280.hp1 HG00408.hp1 HG00621.hp1 HG00673.hp1 HG01069.hp1 HG01099.hp1 HG01109.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02280.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03688.hp1 NA18747.hp1 NA18906.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19058.hp1 NA19070.hp1 NA19082.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0002c0003t0001 a0003c0004t0002	a0001c0001t0001g0003 a0001c0001t0001g0058 a0001c0001t0001g0061 others(53): Show a0001c0001t0001g0003 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0049 a0001c0001t0005g0007 a0001c0001t0005g0056 a0001c0001t0005g0065 a0001c0001t0005g0083 a0001c0001t0005g0091 a0001c0001t0005g0096 a0001c0001t0006g0098 a0001c0001t0006g0102 a0001c0001t0006g0114 a0001c0001t0007g0107 a0001c0001t0008g0060 a0001c0001t0009g0089 a0001c0001t0015g0046 a0001c0001t0016g0045 a0001c0001t0017g0014 a0002c0003t0001g0088 a0003c0004t0002g0044	56	135	0.4148	-45	c.362 others(64): Show c.362+52044_362+52088delCGGAGACGGAGACGGAGAGGGGAGAG GGGAGAGGGGAGAGGGGAG		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	3/10						chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761887	CCTTCTCC others(38): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	141	0.0071	-45	c.82+ others(64): Show c.82+102898_82+102942delCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTTCTTCTTCT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761899	CCTTCTCC others(38): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0073 a0001c0001t0002g0139 a0001c0001t0001g0073 a0001c0001t0002g0139	2	141	0.0142	-45	c.82+ others(64): Show c.82+102910_82+102954delCCTTCTCCTTCTCCTTCTCCTTCTTC TTCTTCTTCTTCTTCTTCT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761905	CCTTCTCC others(38): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp1 NA18906.hp1 HG02965.hp1 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0006g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0006g0134	3	141	0.0213	-45	c.82+ others(64): Show c.82+102916_82+102960delCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1365343	GTGAGCGG others(38): Show GTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGGC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp1 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0114 a0001c0001t0003g0036 a0001c0001t0003g0114	2	115	0.0174	-45	c.874 others(59): Show c.874+94_874+138delAGCGGGGTGAGCGGGGTGAGCCGGGTGCGCG GGGTGAGCCGGCTG		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366065	GGGGTGCG others(38): Show GGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	115	0.0087	-45	c.874 others(60): Show c.874+828_874+872delAGCGGGGTGCGCGGGGTGCGCGGCGTGAGC CGGGTGCGCGGGGTG		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367266	AGCCGGGT others(38): Show AGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGC	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	115	0.0087	-45	c.874 others(62): Show c.874+2017_874+2061delCGGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGCGCGGGGTGCGC		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367293	CGCGGGGT others(38): Show CGCGGGGTGCGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp1 HG03490.hp2 others(1): Show HG02280.hp2 HG03139.hp1 HG03490.hp2 HG04228.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0004 a0009c0014 a0001c0001 a0006c0004 a0009c0014	a0001c0001t0001 a0001c0001t0003 a0006c0004t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0006c0004t0007 a0009c0014t0004	a0001c0001t0001g0031 a0001c0001t0003g0021 a0006c0004t0007g0093 others(1): Show a0001c0001t0001g0031 a0001c0001t0003g0021 a0006c0004t0007g0093 a0009c0014t0004g0044	4	115	0.0348	-45	c.874 others(62): Show c.874+2050_874+2094delCGCGGGGTGCGCGGGGTGAGCCGGGTGC GCGGGGTGAGCGGGGTG		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367467	GGGGTGAG others(38): Show GGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	115	0.0087	-45	c.874 others(62): Show c.874+2221_874+2265delAGCGGGGTGCGCGGGGTGAGCCGGGTGC GCGGGGTGAGCCGGGTG		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
INO80D_chr2_205988721_206091174	206071257	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0246 a0001c0001t0031g0246	1	334	0.0030	-45	c.-12 others(64): Show c.-123-8058_-123-8014delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA		INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding	1/10						chr2	TogoVar
INO80_chr15_40973880_41121280	41032028	CACAGCAC others(38): Show CACAGCACAGCACAGCACAGCACAGCACAGCACAGGACAGCACAGG	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG04204.hp2 HG02074.hp1 HG04204.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0001 a0001c0004t0011g0002 a0001c0004t0011g0001 a0001c0004t0011g0002	2	282	0.0071	-45	c.290 others(64): Show c.2908-4337_2908-4293delCCTGTGCTGTCCTGTGCTGTGCTGTG CTGTGCTGTGCTGTGCTGT		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INPP5A_chr10_132532787_132788480	132611949	GGGTGTGG others(38): Show GGGTGTGGGAGGTGAGGAGGGCAGGGGAGAGGCCCTGTCAGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG02109.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0001g0185 a0001c0005t0001g0186	2	204	0.0098	-45	c.117 others(62): Show c.117+4014_117+4058delCAGGGGAGAGGCCCTGTCAGAGGAAGGT GTGGGAGGTGAGGAGGG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132612088	AGAGGGAA others(38): Show AGAGGGAAGTGAGGTGGGCAGGGGAGAGGCCCCATCAGAGGAGGGT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp2 HG01433.hp2 others(2): Show HG00735.hp2 HG01261.hp2 HG01433.hp2 HG01928.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0002g0167	5	204	0.0245	-45	c.117 others(62): Show c.117+4139_117+4183delAGTGAGGTGGGCAGGGGAGAGGCCCCAT CAGAGGAGGGTGAGGGA		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132723556	CGTGTGGG others(38): Show CGTGTGGGGATTGGCCATGTGGGGATTGGCCGTGTGGGGATTGGTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01261.hp1 others(9): Show HG01069.hp1 HG01071.hp2 HG01261.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02886.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0004t0002 a0001c0004t0012 others(4): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0012 a0001c0004t0021 a0001c0005t0001 a0001c0005t0018 a0001c0005t0019	a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0013 others(9): Show a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0013 a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0032 a0001c0004t0012g0166 a0001c0004t0021g0146 a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0018g0038 a0001c0005t0019g0035	12	204	0.0588	-45	c.648 others(62): Show c.648-3264_648-3220delGTGTGGGGATTGGCCATGTGGGGATTGG CCGTGTGGGGATTGGTT		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15						chr10	TogoVar
INSR_chr19_7107265_7299414	7124563	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0040 a0001c0007t0040	a0001c0007t0040g0020 a0001c0007t0040g0020	1	300	0.0033	-45	c.325 others(62): Show c.3258+675_3258+719delATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTTT		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21						chr19	TogoVar
INSR_chr19_7107265_7299414	7124569	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0052 a0001c0006t0052	a0001c0006t0052g0037 a0001c0006t0052g0037	1	300	0.0033	-45	c.325 others(62): Show c.3258+669_3258+713delATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTT		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21						chr19	TogoVar
INTS1_chr7_1465277_1509389	1497225	CTGCTTGA others(38): Show CTGCTTGATGATCTCCCGCAGCAGGGCCCGCGAGGCCCGCAGGTAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02056.hp2 HG02056.hp2	a0011 a0011	a0011c0060 a0011c0060	a0011c0060t0004 a0011c0060t0004	a0011c0060t0004g0209 a0011c0060t0004g0209	1	316	0.0032	-45	c.147 others(54): Show c.1470_1514delCTACCTGCGGGCCTCGCGGGCCCTGCTGCGGGAGAT CATCAAGCA	p.Asp others(19): Show p.Asp490_Gln505delinsGlu	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	11/48	1622/6981	1470/6573	490/2190			chr7	TogoVar
IQCF2_chr3_51856615_51868424	51861280	CTTTCACA others(38): Show CTTTCACATGGACCCCTTAGAGTTGAAAGCCCTAAAAAGGGCCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(315): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0006c0006 a0007c0007	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0002c0002t0001g0005 a0004c0004t0001g0001 a0005c0005t0001g0001 a0006c0006t0001g0001 a0007c0007t0001g0001	318	426	0.7465	-45	c.-38 others(54): Show c.-386_-342delTTTCACATGGACCCCTTAGAGTTGAAAGCCCTAAAA AGGGCCAGG		IQCF2	ENSG00000184345.5	transcript	ENST00000333127.4	protein_coding					334		chr3	TogoVar
IQCG_chr3_197884077_197964991	197941329	TCTCTCTC others(38): Show TCTCTCTCTCCCCTCTGTCTCTTTCTTTCCCTTCCTTCCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02970.hp2 others(1): Show HG02559.hp1 HG02572.hp2 HG02970.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 others(1): Show a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129	4	280	0.0143	-45	c.282 others(62): Show c.282+2404_282+2448delGGAGGAAGGAAGGAAGGGAAAGAAAGAG ACAGAGGGGAGAGAGAG		IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	4/11						chr3	TogoVar
IQGAP2_chr5_76398285_76713132	76496702	CTCTTTCT others(38): Show CTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0003 a0004c0005t0008g0003	1	222	0.0045	-45	c.146 others(64): Show c.146+35059_146+35103delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ISM1_chr20_13216274_13305651	13292733	CAGAATAA others(38): Show CAGAATAAGCCCATAGCAGGGGCTCAAGTCACATGGAATCTGTTCT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0031	a0002c0003t0031g0235 a0002c0003t0031g0235	1	396	0.0025	-45	c.877 others(60): Show c.877+271_877+315delAGAATAAGCCCATAGCAGGGGCTCAAGTCA CATGGAATCTGTTCT		ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	5/5						chr20	TogoVar
ITCH_chr20_34358273_34516773	34473869	GTCTGAAC others(38): Show GTCTGAACATAATAGCTTATAGTAATAAGACACAGGTTCTAGTACA	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	294	0.0034	-45	c.156 others(64): Show c.1569+2355_1569+2399delTCTGAACATAATAGCTTATAGTAATA AGACACAGGTTCTAGTACA		ITCH	ENSG00000078747.17	transcript	ENST00000374864.10	protein_coding	16/24						chr20	TogoVar
ITGA11_chr15_68291532_68437163	68397690	AAATATTA others(38): Show AAATATTATATTTAAAATATTATATTTAAAATATTATATTTAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(92): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02055.hp2 HG02129.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18998.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0021 a0022 a0026	a0001c0001 a0001c0002 a0001c0003 others(40): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0024 a0001c0028 a0001c0034 a0001c0036 a0001c0037 a0001c0056 a0001c0063 a0002c0007 a0002c0010 a0002c0012 a0002c0016 a0002c0030 a0002c0035 a0003c0004 a0003c0009 a0003c0014 a0003c0031 a0003c0064 a0004c0013 a0004c0029 a0004c0086 a0005c0015 a0005c0018 a0005c0032 a0005c0074 a0005c0076 a0006c0047 a0006c0072 a0007c0006 a0008c0020 a0008c0044 a0010c0021 a0010c0087 a0013c0045 a0014c0066 a0021c0049 a0022c0078 a0026c0054	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(83): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0022 a0001c0001t0028 a0001c0001t0058 a0001c0001t0059 a0001c0001t0069 a0001c0001t0074 a0001c0002t0003 a0001c0002t0011 a0001c0002t0013 a0001c0002t0019 a0001c0003t0002 a0001c0003t0005 a0001c0003t0007 a0001c0003t0011 a0001c0003t0023 a0001c0003t0057 a0001c0003t0085 a0001c0003t0110 a0001c0005t0002 a0001c0005t0029 a0001c0005t0049 a0001c0008t0035 a0001c0008t0037 a0001c0024t0006 a0001c0028t0048 a0001c0034t0009 a0001c0036t0031 a0001c0036t0114 a0001c0037t0004 a0001c0037t0031 a0001c0056t0014 a0001c0063t0004 a0002c0007t0008 a0002c0007t0016 a0002c0010t0034 a0002c0010t0080 a0002c0012t0002 a0002c0012t0091 a0002c0016t0001 a0002c0030t0103 a0002c0035t0001 a0002c0035t0102 a0003c0004t0005 a0003c0004t0007 a0003c0004t0009 a0003c0004t0050 a0003c0004t0051 a0003c0009t0001 a0003c0009t0032 a0003c0014t0005 a0003c0014t0041 a0003c0031t0020 a0003c0064t0081 a0004c0013t0104 a0004c0013t0105 a0004c0029t0035 a0004c0086t0008 a0005c0015t0094 a0005c0015t0095 a0005c0015t0096 a0005c0018t0044 a0005c0032t0001 a0005c0032t0007 a0005c0074t0100 a0005c0076t0087 a0006c0047t0070 a0006c0072t0002 a0007c0006t0018 a0007c0006t0026 a0007c0006t0039 a0007c0006t0040 a0008c0020t0046 a0008c0044t0004 a0010c0021t0066 a0010c0087t0018 a0013c0045t0117 a0014c0066t0072 a0021c0049t0010 a0022c0078t0047 a0026c0054t0001	a0001c0001t0003g0122 a0001c0001t0003g0161 a0001c0001t0004g0073 others(92): Show a0001c0001t0003g0122 a0001c0001t0003g0161 a0001c0001t0004g0073 a0001c0001t0006g0074 a0001c0001t0007g0194 a0001c0001t0009g0151 a0001c0001t0014g0044 a0001c0001t0022g0230 a0001c0001t0028g0171 a0001c0001t0028g0172 a0001c0001t0058g0057 a0001c0001t0059g0185 a0001c0001t0069g0173 a0001c0001t0074g0046 a0001c0002t0003g0037 a0001c0002t0011g0040 a0001c0002t0013g0055 a0001c0002t0019g0003 a0001c0003t0002g0058 a0001c0003t0005g0006 a0001c0003t0005g0101 a0001c0003t0005g0180 a0001c0003t0007g0092 a0001c0003t0011g0104 a0001c0003t0023g0190 a0001c0003t0057g0167 a0001c0003t0085g0052 a0001c0003t0110g0062 a0001c0005t0002g0112 a0001c0005t0029g0222 a0001c0005t0049g0183 a0001c0008t0035g0229 a0001c0008t0037g0234 a0001c0008t0037g0235 a0001c0024t0006g0096 a0001c0028t0048g0136 a0001c0034t0009g0154 a0001c0036t0031g0175 a0001c0036t0114g0211 a0001c0037t0004g0191 a0001c0037t0031g0174 a0001c0056t0014g0082 a0001c0063t0004g0049 a0002c0007t0008g0192 a0002c0007t0016g0029 a0002c0010t0034g0150 a0002c0010t0080g0025 a0002c0012t0002g0053 a0002c0012t0091g0064 a0002c0016t0001g0050 a0002c0016t0001g0084 a0002c0016t0001g0152 a0002c0016t0001g0162 a0002c0030t0103g0135 a0002c0035t0001g0094 a0002c0035t0102g0095 a0003c0004t0005g0108 a0003c0004t0007g0125 a0003c0004t0009g0169 a0003c0004t0050g0060 a0003c0004t0051g0134 a0003c0009t0001g0226 a0003c0009t0032g0170 a0003c0009t0032g0181 a0003c0014t0005g0009 a0003c0014t0041g0233 a0003c0031t0020g0034 a0003c0064t0081g0024 a0004c0013t0104g0231 a0004c0013t0105g0031 a0004c0029t0035g0035 a0004c0086t0008g0142 a0005c0015t0094g0051 a0005c0015t0095g0197 a0005c0015t0096g0059 a0005c0018t0044g0232 a0005c0032t0001g0202 a0005c0032t0007g0166 a0005c0074t0100g0210 a0005c0076t0087g0038 a0006c0047t0070g0114 a0006c0072t0002g0090 a0007c0006t0018g0054 a0007c0006t0026g0087 a0007c0006t0039g0088 a0007c0006t0040g0111 a0008c0020t0046g0126 a0008c0044t0004g0039 a0010c0021t0066g0240 a0010c0087t0018g0153 a0013c0045t0117g0007 a0014c0066t0072g0132 a0021c0049t0010g0241 a0022c0078t0047g0021 a0026c0054t0001g0067	95	242	0.3926	-45	c.164 others(62): Show c.164+5183_164+5227delATTTTAAATATAATATTTTAAATATAAT ATTTTAAATATAATATT		ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29						chr15	TogoVar
ITGA1_chr5_52782916_52964209	52910963	ATATATAC others(38): Show ATATATACTATATATAGTATGTATACTATATATAGTATGTATACTG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18906.hp2 NA18944.hp2 others(4): Show HG02486.hp1 NA18906.hp2 NA18944.hp2 NA18956.hp2 NA19003.hp1 NA19056.hp1 NA19063.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0013 a0003c0005 others(1): Show a0001c0002 a0002c0013 a0003c0005 a0003c0011	a0001c0002t0020 a0002c0013t0044 a0003c0005t0001 others(3): Show a0001c0002t0020 a0002c0013t0044 a0003c0005t0001 a0003c0005t0003 a0003c0005t0010 a0003c0011t0009	a0001c0002t0020g0315 a0002c0013t0044g0284 a0003c0005t0001g0220 others(4): Show a0001c0002t0020g0315 a0002c0013t0044g0284 a0003c0005t0001g0220 a0003c0005t0003g0192 a0003c0005t0010g0120 a0003c0011t0009g0260 a0003c0011t0009g0268	7	322	0.0217	-45	c.185 others(62): Show c.1857+571_1857+615delATATATAGTATGTATACTGTATATACTA TATATAGTATGTATACT		ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA4_chr2_181452386_181543940	181534028	ATATTTAA others(38): Show ATATTTAAATCAAGTTATTTGCAAGGTAGCTGTTTAATCAAAGGAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	368	0.0027	-45	c.278 others(62): Show c.2785-242_2785-198delATTTAAATCAAGTTATTTGCAAGGTAGC TGTTTAATCAAAGGATT		ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding	25/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA6_chr2_172422586_172511459	172506220	ATATGTGA others(38): Show ATATGTGAAGCAAACTCTAAAATTATAAATGACAACCTGAATTATC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0212 a0001c0002t0028g0212	1	352	0.0028	-45	c.19 others(56): Show c.1972_*2016delGTGAAGCAAACTCTAAAATTATAAATGACAACCT GAATTATCTAT		ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	26/26				1972	INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA9_chr3_37447141_37828507	37512120	CTTTCTTT others(38): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG03041.hp1 HG01168.hp1 HG01169.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0001 a0001c0005t0017 a0001c0001t0003 a0001c0005t0001 a0001c0005t0017	a0001c0001t0003g0054 a0001c0005t0001g0150 a0001c0005t0017g0143 a0001c0001t0003g0054 a0001c0005t0001g0150 a0001c0005t0017g0143	3	168	0.0179	-45	c.898 others(62): Show c.898-1595_898-1551delTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTT		ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH5_chr10_7554270_7671966	7566820	GGAAGAGG others(38): Show GGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0053 a0004c0007t0053	a0004c0007t0053g0323 a0004c0007t0053g0323	1	342	0.0029	-45	c.215 others(62): Show c.2150-458_2150-414delTTCTTCTTCTTCTTCTTCTTCCTCTTCC TCTTCCTCTTCCTCTTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566832	GGAAGAGG others(38): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0034 a0034	a0034c0041 a0034c0041	a0034c0041t0061 a0034c0041t0061	a0034c0041t0061g0115 a0034c0041t0061g0115	1	342	0.0029	-45	c.215 others(62): Show c.2150-470_2150-426delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTCTTCCTCTTC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132168859	GCCAGCCC others(38): Show GCCAGCCCTGCAGGCCATGGACCCCGGCGGGCACCGAAGCCTCACC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0153 a0001c0006t0025g0153	1	158	0.0063	-45	c.93 others(54): Show c.933_*977delGCCCTGCAGGCCATGGACCCCGGCGGGCACCGAAGC CTCACCCCA		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/24				1830	INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH2_chr20_44101590_44192188	44134483	TAATATAT others(38): Show TAATATATATTTATTATATATAAATAATATATATTTATAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp2 HG01123.hp1 others(28): Show HG01071.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp2 HG01993.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03654.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18943.hp1 NA19003.hp2 NA19009.hp1 NA19082.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0012 a0014 a0001 a0012 a0014	a0001c0001 a0001c0003 a0012c0025 others(1): Show a0001c0001 a0001c0003 a0012c0025 a0014c0029	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030 a0001c0001t0097 a0001c0001t0111 a0001c0003t0051 a0001c0003t0102 a0012c0025t0012 a0014c0029t0016	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0005g0301 others(28): Show a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0330 a0001c0001t0007g0312 a0001c0001t0017g0105 a0001c0001t0017g0117 a0001c0001t0017g0126 a0001c0001t0017g0128 a0001c0001t0020g0162 a0001c0001t0020g0163 a0001c0001t0020g0164 a0001c0001t0030g0244 a0001c0001t0030g0262 a0001c0001t0097g0263 a0001c0001t0111g0327 a0001c0003t0051g0005 a0001c0003t0102g0214 a0012c0025t0012g0145 a0014c0029t0016g0125	31	338	0.0917	-45	c.117 others(66): Show c.1170-15905_1170-15861delTATTTATTATAAATATATATTATT TATATATAATAAATATATATT		JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5						chr20	TogoVar
KANK3_chr19_8317584_8348262	8340250	AGACTCCG others(38): Show AGACTCCGTCTCAAAAAAAAAAAACCATATATATATATATATACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(121): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19062.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA20300.hp2	a0002 a0003 a0010 others(2): Show a0002 a0003 a0010 a0014 a0017	a0002c0002 a0003c0003 a0003c0011 others(5): Show a0002c0002 a0003c0003 a0003c0011 a0003c0017 a0003c0030 a0010c0015 a0014c0035 a0017c0029	a0002c0002t0001 a0003c0003t0001 a0003c0003t0006 others(6): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0006 a0003c0011t0001 a0003c0017t0001 a0003c0030t0001 a0010c0015t0001 a0014c0035t0001 a0017c0029t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(109): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0078 a0002c0002t0001g0242 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0001g0361 a0002c0002t0001g0362 a0002c0002t0001g0363 a0002c0002t0001g0364 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0371 a0002c0002t0001g0372 a0002c0002t0001g0373 a0002c0002t0001g0374 a0002c0002t0001g0375 a0002c0002t0001g0376 a0002c0002t0001g0377 a0002c0002t0001g0378 a0002c0002t0001g0379 a0002c0002t0001g0380 a0002c0002t0001g0381 a0003c0003t0001g0011 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0223 a0003c0003t0001g0241 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0321 a0003c0003t0001g0322 a0003c0003t0001g0323 a0003c0003t0001g0324 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0384 a0003c0003t0001g0385 a0003c0003t0006g0329 a0003c0003t0006g0336 a0003c0011t0001g0243 a0003c0011t0001g0244 a0003c0011t0001g0245 a0003c0011t0001g0246 a0003c0017t0001g0033 a0003c0017t0001g0034 a0003c0030t0001g0383 a0010c0015t0001g0247 a0010c0015t0001g0369 a0014c0035t0001g0258 a0017c0029t0001g0370	124	406	0.3054	-45	c.-28 others(62): Show c.-28-2439_-28-2395delGTGTATATATATATATATATGGTTTTTT TTTTTTGAGACGGAGTC		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10						chr19	TogoVar
KANSL1_chr17_46024916_46198429	46125040	GGAGGGAG others(38): Show GGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02145.hp1 HG02602.hp2 others(3): Show HG00280.hp1 HG02145.hp1 HG02602.hp2 HG02738.hp2 HG03239.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0025 a0003c0004t0005 a0003c0004t0025	a0003c0004t0005g0309 a0003c0004t0005g0311 a0003c0004t0005g0314 others(3): Show a0003c0004t0005g0309 a0003c0004t0005g0311 a0003c0004t0005g0314 a0003c0004t0005g0316 a0003c0004t0005g0320 a0003c0004t0025g0321	6	321	0.0187	-45	c.129 others(66): Show c.1290-30384_1290-30340delTCTCCCTCCCTCCCTCCTCCCTCC CTCCTCCCTCCCTCCTCCCTC		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14						chr17	TogoVar
KATNAL1_chr13_30197630_30312551	30309870	CATAGCTT others(38): Show CATAGCTTGTACAGAAGAAATGACAGCACTTAAGAGATGAAGTCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0278 a0001c0001t0049g0278	1	386	0.0026	-45	c.-25 others(56): Show c.-2599_-2555delCGGACTTCATCTCTTAAGTGCTGTCATTTCTTCT GTACAAGCTAT		KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding					2320		chr13	TogoVar
KAZN_chr1_14593685_15123043	15050019	AGTAGAGT others(38): Show AGTAGAGTAGGGTAGGGTAGGGTAGGGTAGGGTAGGGTAGGGTAGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG03195.hp2 others(1): Show HG02486.hp1 HG02572.hp2 HG03195.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0020 a0001c0003t0018 others(1): Show a0001c0001t0003 a0001c0001t0020 a0001c0003t0018 a0002c0002t0001	a0001c0001t0003g0056 a0001c0001t0020g0045 a0001c0003t0018g0123 others(1): Show a0001c0001t0003g0056 a0001c0001t0020g0045 a0001c0003t0018g0123 a0002c0002t0001g0041	4	146	0.0274	-45	c.726 others(62): Show c.726+5870_726+5914delGGTAGGGTAGGGTAGGGTAGGGTAGGGT AGGGTAGGGTAGAGTAG		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNH7_chr2_162366407_162843767	162752903	AAAAAGAA others(38): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	100	0.0100	-45	c.307 others(64): Show c.307+83589_307+83633delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTT		KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15						chr2	TogoVar
KCNIP3_chr2_95292347_95391077	95301679	CCACCAAG others(38): Show CCACCAAGAGGCAATTTGGCCATGGGCAACTCAAGTTCACCCCTGG	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0121	1	298	0.0034	-45	c.15+ others(60): Show c.15+4227_15+4271delCACCAAGAGGCAATTTGGCCATGGGCAACT CAAGTTCACCCCTGG		KCNIP3	ENSG00000115041.14	transcript	ENST00000295225.10	protein_coding	1/8						chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21291862	AAAAAAAA others(38): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG02698.hp2 others(2): Show HG02257.hp2 HG02647.hp1 HG02698.hp2 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0066 a0001c0001t0002g0036 a0001c0001t0004g0067 others(2): Show a0001c0001t0001g0066 a0001c0001t0002g0036 a0001c0001t0004g0067 a0001c0001t0012g0045 a0001c0002t0001g0049	5	80	0.0625	-45	c.62- others(64): Show c.62-409198_62-409154delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTTTTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178785208	ATGAAAAT others(38): Show ATGAAAATTTAGGCAATGCTAATTTTTTGAAAGATTTAGAGTAAAT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	232	0.0043	-45	c.-67 others(64): Show c.-67-22134_-67-22090delTGAAAATTTAGGCAATGCTAATTTTT TGAAAGATTTAGAGTAAAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63409752	AGGGACTT others(38): Show AGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(65): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp2 NA18952.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp2 NA20129.hp2	a0001 a0002 a0010 others(3): Show a0001 a0002 a0010 a0013 a0014 a0015	a0001c0002 a0001c0003 a0001c0004 others(10): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0012 a0001c0016 a0001c0020 a0001c0027 a0002c0001 a0010c0021 a0013c0038 a0014c0039 a0015c0034	a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 others(32): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0012 a0001c0002t0022 a0001c0002t0034 a0001c0002t0072 a0001c0002t0075 a0001c0002t0078 a0001c0002t0080 a0001c0002t0081 a0001c0002t0083 a0001c0002t0084 a0001c0002t0096 a0001c0003t0003 a0001c0003t0010 a0001c0003t0017 a0001c0003t0094 a0001c0003t0102 a0001c0003t0106 a0001c0003t0107 a0001c0003t0108 a0001c0004t0004 a0001c0009t0003 a0001c0009t0098 a0001c0012t0082 a0001c0016t0050 a0001c0020t0012 a0001c0027t0010 a0002c0001t0005 a0002c0001t0009 a0010c0021t0022 a0013c0038t0003 a0014c0039t0095 a0015c0034t0105	a0001c0002t0002g0179 a0001c0002t0003g0304 a0001c0002t0010g0118 others(64): Show a0001c0002t0002g0179 a0001c0002t0003g0304 a0001c0002t0010g0118 a0001c0002t0010g0190 a0001c0002t0010g0191 a0001c0002t0012g0029 a0001c0002t0012g0030 a0001c0002t0012g0038 a0001c0002t0012g0099 a0001c0002t0022g0002 a0001c0002t0022g0053 a0001c0002t0034g0041 a0001c0002t0034g0254 a0001c0002t0072g0173 a0001c0002t0075g0221 a0001c0002t0078g0244 a0001c0002t0080g0235 a0001c0002t0081g0088 a0001c0002t0083g0042 a0001c0002t0084g0252 a0001c0002t0096g0040 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0274 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0286 a0001c0003t0003g0288 a0001c0003t0003g0298 a0001c0003t0003g0306 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0010g0178 a0001c0003t0010g0207 a0001c0003t0010g0209 a0001c0003t0010g0251 a0001c0003t0017g0313 a0001c0003t0017g0319 a0001c0003t0017g0320 a0001c0003t0017g0321 a0001c0003t0017g0322 a0001c0003t0094g0016 a0001c0003t0102g0267 a0001c0003t0106g0311 a0001c0003t0107g0275 a0001c0003t0108g0263 a0001c0004t0004g0052 a0001c0009t0003g0262 a0001c0009t0003g0281 a0001c0009t0003g0294 a0001c0009t0003g0314 a0001c0009t0098g0261 a0001c0012t0082g0035 a0001c0016t0050g0054 a0001c0020t0012g0057 a0001c0020t0012g0202 a0001c0027t0010g0017 a0002c0001t0005g0055 a0002c0001t0009g0056 a0002c0001t0009g0167 a0010c0021t0022g0011 a0013c0038t0003g0315 a0014c0039t0095g0256 a0015c0034t0105g0293	68	330	0.2061	-45	c.176 others(64): Show c.1764-1261_1764-1217delGCCCCCATCAGAGGCAGGTAGGGCAG CCCAGTGGCAGGAAGTCCC		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	15/16						chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132187858	GTGGTGGT others(38): Show GTGGTGGTGGTGGTGATAGTGATGGTGGCGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG01070.hp2 others(46): Show HG00323.hp1 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp2 HG02257.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18952.hp2 NA18957.hp2 NA19011.hp2 NA19012.hp1 NA19065.hp2 NA19081.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0005 a0001c0006 others(4): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0003c0004 a0004c0008 a0006c0011	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(38): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0032 a0001c0001t0036 a0001c0001t0045 a0001c0001t0049 a0001c0001t0051 a0001c0001t0057 a0001c0001t0060 a0001c0001t0062 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0074 a0001c0001t0078 a0001c0001t0100 a0001c0001t0104 a0001c0001t0112 a0001c0005t0012 a0001c0005t0085 a0001c0006t0061 a0001c0006t0098 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0015 a0002c0002t0088 a0003c0004t0013 a0004c0008t0006 a0006c0011t0087	a0001c0001t0004g0074 a0001c0001t0006g0110 a0001c0001t0006g0111 others(46): Show a0001c0001t0004g0074 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0121 a0001c0001t0009g0012 a0001c0001t0010g0036 a0001c0001t0012g0067 a0001c0001t0012g0079 a0001c0001t0013g0059 a0001c0001t0016g0137 a0001c0001t0017g0141 a0001c0001t0020g0051 a0001c0001t0022g0084 a0001c0001t0022g0091 a0001c0001t0023g0078 a0001c0001t0024g0077 a0001c0001t0032g0001 a0001c0001t0036g0032 a0001c0001t0045g0039 a0001c0001t0049g0040 a0001c0001t0051g0047 a0001c0001t0057g0058 a0001c0001t0060g0064 a0001c0001t0062g0099 a0001c0001t0066g0068 a0001c0001t0067g0062 a0001c0001t0069g0073 a0001c0001t0074g0085 a0001c0001t0078g0125 a0001c0001t0100g0150 a0001c0001t0104g0162 a0001c0001t0112g0167 a0001c0005t0012g0095 a0001c0005t0085g0128 a0001c0006t0061g0086 a0001c0006t0098g0154 a0002c0002t0002g0117 a0002c0002t0002g0120 a0002c0002t0002g0123 a0002c0002t0003g0158 a0002c0002t0003g0161 a0002c0002t0007g0176 a0002c0002t0009g0005 a0002c0002t0015g0105 a0002c0002t0015g0116 a0002c0002t0088g0133 a0003c0004t0013g0072 a0004c0008t0006g0122 a0006c0011t0087g0130	49	176	0.2784	-45	c.387 others(62): Show c.387-1722_387-1678delTCACCACCACCACCACCGCCACCATCAC TATCACCACCACCACCA		KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14						chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72941704	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	80	0.0125	-45	c.399 others(64): Show c.399-62198_399-62154delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCT		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNRG_chr13_50010444_50025922	50015089	AAAAAAAT others(38): Show AAAAAAATATATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	-45	c.-40 others(54): Show c.-404_-360delAAAAAATATATATATATATATATATATATATATATA TATATATAT		KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding					354		chr13	TogoVar
KCTD3_chr1_215562304_215626807	215625730	AATGGGTG others(38): Show AATGGGTGCAGACCTTGCATTCCAGGGTTACGTCTTCTGGGTTTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	314	0.0032	-45	c.51 others(56): Show c.5113_*5157delATGGGTGCAGACCTTGCATTCCAGGGTTACGTCT TCTGGGTTTCC		KCTD3	ENSG00000136636.13	transcript	ENST00000259154.9	protein_coding					3924		chr1	TogoVar
KIAA1328_chr18_36824127_37230334	37000620	TTAAGAAA others(38): Show TTAAGAAATGAAATCATATCAAGTATCTTCTCAGACCACAATGGAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA19001.hp1 NA19001.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0002c0004 a0003c0005 a0004c0010 a0005c0011 a0006c0009 a0007c0013 a0008c0012 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0020 a0001c0003t0003 a0001c0003t0004 a0001c0003t0019 a0001c0006t0001 a0001c0007t0005 a0001c0008t0003 a0002c0004t0006 a0002c0004t0014 a0003c0005t0004 a0004c0010t0005 a0005c0011t0001 a0006c0009t0005 a0007c0013t0011 a0008c0012t0002 a0009c0014t0008	a0001c0001t0001g0058 a0001c0001t0002g0048 a0001c0001t0002g0091 others(196): Show a0001c0001t0001g0058 a0001c0001t0002g0048 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0003g0047 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0104 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0141 a0001c0001t0003g0148 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0008g0105 a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0009g0144 a0001c0001t0009g0145 a0001c0001t0009g0146 a0001c0001t0009g0147 a0001c0001t0018g0102 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0030 a0001c0002t0003g0068 a0001c0002t0005g0001 a0001c0002t0005g0007 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0016 a0001c0002t0005g0017 a0001c0002t0005g0025 a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0196 a0001c0002t0005g0197 a0001c0002t0007g0018 a0001c0002t0007g0019 a0001c0002t0007g0020 a0001c0002t0007g0021 a0001c0002t0007g0022 a0001c0002t0007g0023 a0001c0002t0007g0024 a0001c0002t0008g0028 a0001c0002t0008g0029 a0001c0002t0009g0014 a0001c0002t0010g0003 a0001c0002t0010g0004 a0001c0002t0010g0006 a0001c0002t0011g0031 a0001c0002t0011g0198 a0001c0002t0012g0041 a0001c0002t0012g0042 a0001c0002t0013g0005 a0001c0002t0015g0195 a0001c0002t0016g0013 a0001c0002t0017g0015 a0001c0002t0020g0043 a0001c0003t0003g0182 a0001c0003t0004g0174 a0001c0003t0004g0176 a0001c0003t0004g0177 a0001c0003t0004g0178 a0001c0003t0004g0181 a0001c0003t0004g0183 a0001c0003t0004g0184 a0001c0003t0004g0185 a0001c0003t0004g0186 a0001c0003t0004g0189 a0001c0003t0004g0190 a0001c0003t0004g0191 a0001c0003t0004g0192 a0001c0003t0004g0193 a0001c0003t0004g0199 a0001c0003t0004g0200 a0001c0003t0019g0188 a0001c0006t0001g0050 a0001c0006t0001g0056 a0001c0006t0001g0057 a0001c0007t0005g0045 a0001c0007t0005g0046 a0001c0008t0003g0090 a0002c0004t0006g0033 a0002c0004t0006g0034 a0002c0004t0006g0035 a0002c0004t0006g0036 a0002c0004t0006g0038 a0002c0004t0006g0039 a0002c0004t0006g0040 a0002c0004t0014g0037 a0003c0005t0004g0173 a0003c0005t0004g0175 a0003c0005t0004g0179 a0003c0005t0004g0180 a0003c0005t0004g0187 a0003c0005t0004g0194 a0004c0010t0005g0044 a0005c0011t0001g0059 a0006c0009t0005g0008 a0007c0013t0011g0002 a0008c0012t0002g0142 a0009c0014t0008g0032	199	200	0.9950	-45	c.576 others(64): Show c.576+41234_576+41278delGAAATGAAATCATATCAAGTATCTTC TCAGACCACAATGGAATAA		KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr18	TogoVar

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