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
IL1RAPL2_chrX_104561199_105772829	104761887	CCTTCTCC others(41): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	137	0.0073	-48	c.82+ others(67): Show c.82+102898_82+102945delCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTTCTTCTTCTTCT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761905	CCTTCTCC others(41): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp1 HG03486.hp2 others(1): Show HG02717.hp1 HG03471.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0002t0001g0133	4	128	0.0313	-48	c.82+ others(67): Show c.82+102916_82+102963delCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL2RA_chr10_6005689_6067367	6031446	ATATATAT others(41): Show ATATATATACATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02735.hp2 HG04204.hp2 others(1): Show HG02056.hp1 HG02735.hp2 HG04204.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0130 a0001c0001t0003g0190 a0001c0001t0009g0181 others(1): Show a0001c0001t0003g0130 a0001c0001t0003g0190 a0001c0001t0009g0181 a0001c0001t0009g0187	4	412	0.0097	-48	c.65- others(63): Show c.65-5469_65-5422delCATATATATATATATATATATATATATATA TATATATATGTATATATA	IL2RA	ENSG00000134460.19	transcript	ENST00000379959.8	protein_coding	1/7			chr10	TogoVar
IL33_chr9_6210807_6262983	6218861	CATATATA others(41): Show CATATATATATATGTTCTCCATATATATATATGTTCTCCATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0175 a0001c0006t0002g0175	1	339	0.0029	-48	c.-12 others(65): Show c.-12+3022_-12+3069delGTTCTCCATATATATATATGTTCTCCAT ATATATATATATATATATAT	IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
IL3RA_chrX_1331785_1387689	1361016	CCTCTGTC others(41): Show CCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	40	0.0250	-48	c.759 others(65): Show c.759+2221_759+2268delCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTCTGTCTCTCTCTCCCTT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1369830	AGAGGAGA others(41): Show AGAGGAGATGAGGACACAGACACACACAGAGGGATGACCCTGTGAGGGC	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	112	0.0089	-48	c.874 others(65): Show c.874+4579_874+4626delGAGGAGATGAGGACACAGACACACACAG AGGGATGACCCTGTGAGGGC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
IL4_chr5_132668989_132687678	132683729	CTGTGTGT others(41): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	13	0.0769	-48	c.11 others(59): Show c.1143_*1190delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTG	IL4	ENSG00000113520.11	transcript	ENST00000231449.7	protein_coding		1052		chr5	TogoVar
IMMP2L_chr7_110657644_111567492	111281132	GAGAAAGA others(41): Show GAGAAAGACAGAAAGACAGAAAGACAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG02922.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0013 a0001c0002t0004 a0001c0002t0013	a0001c0002t0004g0055 a0001c0002t0013g0057 a0001c0002t0004g0055 a0001c0002t0013g0057	2	74	0.0270	-48	c.239 others(69): Show c.239+206058_239+206105delTTCTTTCTTTCTTTCTTTCTTTCT GTCTTTCTGTCTTTCTGTCTTTCT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
IMMP2L_chr7_110657644_111567492	111281140	CAGAAAGA others(41): Show CAGAAAGACAGAAAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03471.hp1 HG03942.hp1 others(1): Show HG01123.hp2 HG03471.hp1 HG03942.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0003g0035 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0003g0035 a0001c0001t0011g0002	4	48	0.0833	-48	c.239 others(69): Show c.239+206050_239+206097delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTGTCTTTCTGTCTTTCT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
INPP1_chr2_190338589_190376665	190365968	TCGCTCTC others(41): Show TCGCTCTCTCGCTCTGTCTCGCTCTCTCTCGCTCTCTCGCTCTGTCTCG	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	408	0.0025	-48	c.266 others(63): Show c.266-725_266-678delGCTCTCTCGCTCTGTCTCGCTCTCTCTCGC TCTCTCGCTCTGTCTCGC	INPP1	ENSG00000151689.13	transcript	ENST00000392329.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5A_chr10_132532787_132788480	132605167	AAGGGGCT others(41): Show AAGGGGCTGGGGATGGGGAAGAAGTGGATCCCCCAGGAGGGAGTGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02015.hp2 others(9): Show HG01109.hp2 HG01952.hp1 HG02015.hp2 HG02109.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03540.hp1 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0082 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0003t0001g0080 a0001c0003t0002g0081 a0001c0005t0001g0185 a0001c0005t0001g0186	12	202	0.0594	-48	c.76- others(63): Show c.76-2681_76-2634delAGAAGTGGATCCCCCAGGAGGGAGTGGGGG AGGGGCTGGGGATGGGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5F_chr10_119721050_119834147	119722257	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0261 a0002c0002t0002g0261	1	326	0.0031	-48	c.-40 others(59): Show c.-4005_-3958delGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCT TCCGGGAGGGAGGT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding		3792		chr10	TogoVar
INSC_chr11_15109923_15252208	15229965	TATATATA others(41): Show TATATATATATATATTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG02698.hp2 others(9): Show HG00099.hp2 HG00609.hp1 HG02698.hp2 HG02922.hp1 HG03490.hp1 HG04115.hp2 NA18948.hp2 NA18956.hp1 NA18959.hp2 NA19010.hp1 NA19010.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0004 a0003c0005 others(1): Show a0001c0001 a0002c0004 a0003c0005 a0009c0010	a0001c0001t0001 a0001c0001t0004 a0002c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0002c0004t0001 a0003c0005t0004 a0003c0005t0009 a0009c0010t0001	a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0125 others(9): Show a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0259 a0001c0001t0004g0059 a0002c0004t0001g0142 a0003c0005t0004g0064 a0003c0005t0009g0097 a0003c0005t0009g0171 a0003c0005t0009g0249 a0009c0010t0001g0111	12	248	0.0484	-48	c.117 others(67): Show c.1170+4152_1170+4199delTATATATATATATATATATATATATA TATATATAATATATATATATAT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCA1_chr2_236319151_236512476	236459486	TGTATACG others(41): Show TGTATACGTATATATGTATACGTATACGTATACATGTATACATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	205	0.0049	-48	c.926 others(65): Show c.926+5971_926+6018delGTATACATGTATACATGTATACGTATAC GTATACATATATACGTATAC	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCG_chr3_197884077_197964991	197887308	AAGCAGAG others(41): Show AAGCAGAGCCCTTCCCATCACTGACAGTGTTGGGGGTTGAGAGCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	278	0.0036	-48	c.22 others(59): Show c.2224_*2271delGGGGGGCTCTCAACCCCCAACACTGTCAGTGATG GGAAGGGCTCTGCT	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding		1768		chr3	TogoVar
IQCG_chr3_197884077_197964991	197887499	CCCCCCAG others(41): Show CCCCCCAGCAGAGCCCTTCCCATCACTGAACAGTGTTGGCGGCTGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	278	0.0036	-48	c.20 others(59): Show c.2033_*2080delCTCTCAGCCGCCAACACTGTTCAGTGATGGGAAG GGCTCTGCTGGGGG	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding		1577		chr3	TogoVar
IQCG_chr3_197884077_197964991	197887683	GGGGGCTG others(41): Show GGGGGCTGAGAGCCCCCCAGCAGAGCCCTTCCCATCACTGACAGTGTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01074.hp1 others(46): Show HG00323.hp1 HG00423.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01243.hp1 HG01358.hp2 HG01891.hp2 HG02109.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02698.hp2 HG02717.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18943.hp2 NA18954.hp2 NA18966.hp1 NA18970.hp1 NA18977.hp1 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0008c0008t0001	a0001c0001t0001g0273 a0001c0001t0002g0002 a0001c0001t0002g0004 others(46): Show a0001c0001t0001g0273 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0055 a0001c0003t0001g0099 a0001c0003t0001g0132 a0001c0003t0003g0124 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0002c0002t0001g0029 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0170 a0008c0008t0001g0059	49	221	0.2217	-48	c.18 others(59): Show c.1849_*1896delAGACACTGTCAGTGATGGGAAGGGCTCTGCTGGG GGGCTCTCAGCCCC	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding		1393		chr3	TogoVar
IQCM_chr4_149346709_149820843	149368760	ATATATAT others(41): Show ATATATATATACATATATATACATGTATATATATACATATATATACATG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	225	0.0044	-48	c.139 others(69): Show c.1391-16742_1391-16695delCATGTATATATATGTATATATATA CATGTATATATATGTATATATATA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149582307	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02647.hp2 others(3): Show HG01884.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG03453.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0001c0001t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0001g0106 a0001c0001t0001g0230 a0001c0001t0002g0104 others(3): Show a0001c0001t0001g0106 a0001c0001t0001g0230 a0001c0001t0002g0104 a0004c0006t0001g0008 a0004c0006t0001g0097 a0004c0006t0001g0232	6	20	0.3000	-48	c.749 others(65): Show c.749+5575_749+5622delATATATATATATATATATATATATATAT ATATATATATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	9/13			chr4	TogoVar
IQSEC1_chr3_12892043_13078429	12927398	CAGGTGCA others(41): Show CAGGTGCATGCTCTAACTCCACCCAGGCTGTCTGGTCCCTTCCCCACAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG01891.hp2 others(10): Show HG01099.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0003c0011	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0002c0002t0001 a0003c0004t0004 a0003c0004t0014 a0003c0011t0004	a0001c0001t0003g0038 a0001c0001t0004g0176 a0001c0001t0009g0190 others(10): Show a0001c0001t0003g0038 a0001c0001t0004g0176 a0001c0001t0009g0190 a0002c0002t0001g0179 a0003c0004t0004g0060 a0003c0004t0004g0061 a0003c0004t0004g0062 a0003c0004t0004g0063 a0003c0004t0004g0064 a0003c0004t0004g0125 a0003c0004t0014g0228 a0003c0004t0014g0240 a0003c0011t0004g0047	13	248	0.0524	-48	c.156 others(67): Show c.1569-2704_1569-2657delATGTGGGGAAGGGACCAGACAGCCTG GGTGGAGTTAGAGCATGCACCT	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	3/13			chr3	TogoVar
IQSEC3_chr12_61767_183455	159380	AGATTCCT others(41): Show AGATTCCTGGTTCCTGCATGTCAGAGCTTCCTCATTTTTAGTTTACTTT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	280	0.0036	-48	c.244 others(67): Show c.2443+1687_2443+1734delGATTCCTGGTTCCTGCATGTCAGAGC TTCCTCATTTTTAGTTTACTTT	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	7/13			chr12	TogoVar
ISM2_chr14_77469394_77503816	77497761	GGGAGGGA others(41): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02717.hp1 others(6): Show HG02109.hp1 HG02280.hp1 HG02717.hp1 HG02895.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03579.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0014 a0003c0004 a0005c0014	a0003c0004t0001 a0005c0014t0001 a0003c0004t0001 a0005c0014t0001	a0003c0004t0001g0006 a0003c0004t0001g0028 a0003c0004t0001g0029 others(5): Show a0003c0004t0001g0006 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0034 a0005c0014t0001g0032 a0005c0014t0001g0033	9	275	0.0327	-48	c.141 others(63): Show c.141+844_141+891delTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCCTCC	ISM2	ENSG00000100593.18	transcript	ENST00000342219.9	protein_coding	1/6			chr14	TogoVar
ISOC2_chr19_55447985_55466642	55450562	GGGGGACA others(41): Show GGGGGACAGAGACCCAGAGAGAGAGGGGGACAGAGACCCAGAGAGAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	374	0.0027	-48	c.26 others(59): Show c.2698_*2745delTTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCT GGGTCTCTGTCCCC	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		2422		chr19	TogoVar
ITGA11_chr15_68291532_68437163	68397132	ATAAATTA others(41): Show ATAAATTATTATATATTAATTATTATTTAATATTTTAAATTTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG03041.hp1 others(3): Show HG00735.hp1 HG01106.hp1 HG03041.hp1 HG03516.hp2 HG03710.hp1 NA19030.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0002 a0001c0005 a0004c0029 others(1): Show a0001c0002 a0001c0005 a0004c0029 a0010c0021	a0001c0002t0001 a0001c0005t0005 a0004c0029t0003 others(1): Show a0001c0002t0001 a0001c0005t0005 a0004c0029t0003 a0010c0021t0045	a0001c0002t0001g0071 a0001c0002t0001g0207 a0001c0002t0001g0218 others(3): Show a0001c0002t0001g0071 a0001c0002t0001g0207 a0001c0002t0001g0218 a0001c0005t0005g0042 a0004c0029t0003g0129 a0010c0021t0045g0029	6	239	0.0251	-48	c.164 others(65): Show c.164+5738_164+5785delATATATAAAATTTAAAATATTAAATAAT AATTAATATATAATAATTTA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68397135	AATTATTA others(41): Show AATTATTATATATTAATTATTATTTAATATTTTAAATTTTATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp2 HG03471.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0001c0081 a0004c0076 a0001c0005 a0001c0081 a0004c0076	a0001c0005t0004 a0001c0081t0001 a0004c0076t0009 a0001c0005t0004 a0001c0081t0001 a0004c0076t0009	a0001c0005t0004g0157 a0001c0081t0001g0237 a0004c0076t0009g0116 a0001c0005t0004g0157 a0001c0081t0001g0237 a0004c0076t0009g0116	3	137	0.0219	-48	c.164 others(65): Show c.164+5735_164+5782delATAATATATAAAATTTAAAATATTAAAT AATAATTAATATATAATAAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA9_chr3_37447141_37828507	37512004	TTTTCTTT others(41): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	164	0.0061	-48	c.898 others(65): Show c.898-1751_898-1704delTCTTTTCTTTTCTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAM_chr16_31254975_31337877	31334657	CTTCCTTC others(41): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0002 a0001c0005t0004g0002	2	199	0.0101	-48	c.29 others(59): Show c.2951_*2998delTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1781		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334661	CTTCCTTC others(41): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG03041.hp2 others(2): Show HG02723.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0157 a0001c0005t0004g0158 a0001c0005t0004g0161 others(2): Show a0001c0005t0004g0157 a0001c0005t0004g0158 a0001c0005t0004g0161 a0001c0005t0004g0163 a0001c0005t0004g0242	5	189	0.0265	-48	c.29 others(59): Show c.2955_*3002delTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1785		chr16	TogoVar
ITIH5_chr10_7554270_7671966	7566838	GGAAGAGG others(41): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0030 a0003c0002t0002g0031 a0003c0002t0002g0030 a0003c0002t0002g0031	2	247	0.0081	-48	c.215 others(65): Show c.2150-479_2150-432delTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCCTCTTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690775	GTATATAT others(41): Show GTATATATATATATACATATATATATATATATATATATATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG03041.hp2 others(1): Show HG02280.hp1 HG02809.hp2 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0074 a0001c0002t0010 a0001c0001t0012 a0001c0001t0074 a0001c0002t0010	a0001c0001t0012g0228 a0001c0001t0012g0238 a0001c0001t0074g0063 others(1): Show a0001c0001t0012g0228 a0001c0001t0012g0238 a0001c0001t0074g0063 a0001c0002t0010g0237	4	163	0.0245	-48	c.-32 others(67): Show c.-32-28007_-32-27960delCATATATATATATATATATATATATG TATATATATATATATATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24251347	ATGTGTGT others(41): Show ATGTGTGTGTGTGTGTGTGTGTGTGTATATATGTATGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18989.hp2 NA18993.hp2 others(1): Show NA18956.hp2 NA18989.hp2 NA18993.hp2 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0185 a0002c0002t0001g0186 others(1): Show a0002c0002t0001g0167 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0195	4	213	0.0188	-48	c.312 others(65): Show c.3120+950_3120+997delCATATATATACACATACATATATACACA CACACACACACACACACACA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132061193	CGCACACA others(41): Show CGCACACACACACCTGCCGTGACGGCGCACACATACACCTGCCGTGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG04228.hp2 NA20752.hp1 HG00099.hp2 HG04228.hp2 NA20752.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0026 a0004c0045 a0005c0050 a0002c0026 a0004c0045 a0005c0050	a0002c0026t0001 a0004c0045t0001 a0005c0050t0032 a0002c0026t0001 a0004c0045t0001 a0005c0050t0032	a0002c0026t0001g0106 a0004c0045t0001g0090 a0005c0050t0032g0116 a0002c0026t0001g0106 a0004c0045t0001g0090 a0005c0050t0032g0116	3	156	0.0192	-48	c.-50 others(59): Show c.-5005_-4958delGCACACACACACCTGCCGTGACGGCGCACACATA CACCTGCCGTGACG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		4752		chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132116503	GGTGTGAG others(41): Show GGTGTGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGAT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02132.hp1 HG02523.hp1 others(6): Show HG01175.hp1 HG02132.hp1 HG02523.hp1 HG03225.hp1 HG03654.hp2 HG04228.hp2 NA18522.hp1 NA18952.hp2 NA18960.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0001c0015 a0001c0017 others(5): Show a0001c0006 a0001c0015 a0001c0017 a0001c0034 a0004c0007 a0004c0033 a0004c0045 a0004c0046	a0001c0006t0024 a0001c0015t0001 a0001c0015t0002 others(6): Show a0001c0006t0024 a0001c0015t0001 a0001c0015t0002 a0001c0017t0029 a0001c0034t0001 a0004c0007t0004 a0004c0033t0002 a0004c0045t0001 a0004c0046t0007	a0001c0006t0024g0155 a0001c0015t0001g0017 a0001c0015t0002g0018 others(6): Show a0001c0006t0024g0155 a0001c0015t0001g0017 a0001c0015t0002g0018 a0001c0017t0029g0012 a0001c0034t0001g0021 a0004c0007t0004g0092 a0004c0033t0002g0028 a0004c0045t0001g0090 a0004c0046t0007g0091	9	140	0.0643	-48	c.136 others(63): Show c.136-335_136-288delATGTGTGAGTGTGTGCATCATGGACGCTCC CCCCGAATACACATTCAG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132117586	GGCAGGGG others(41): Show GGCAGGGGCGGGCGTGGGCGAGGGTGCAGGGGCGGGCGTGGGCGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00642.hp1 others(7): Show HG00099.hp2 HG00280.hp1 HG00642.hp1 HG00738.hp1 HG01167.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 NA20752.hp2 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0002c0005 a0002c0026 others(1): Show a0002c0004 a0002c0005 a0002c0026 a0004c0007	a0002c0004t0003 a0002c0004t0004 a0002c0005t0001 others(2): Show a0002c0004t0003 a0002c0004t0004 a0002c0005t0001 a0002c0026t0001 a0004c0007t0004	a0002c0004t0003g0035 a0002c0004t0003g0037 a0002c0004t0004g0038 others(7): Show a0002c0004t0003g0035 a0002c0004t0003g0037 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0042 a0002c0004t0004g0051 a0002c0004t0004g0142 a0002c0005t0001g0016 a0002c0026t0001g0106 a0004c0007t0004g0092	10	89	0.1124	-48	c.633 others(61): Show c.633+42_633+89delGGCGGGCGTGGGCGAGGGTGCAGGGGCGGGCG TGGGCGAGGGTGCAGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180646	CGTGTGCG others(41): Show CGTGTGCGTGTGCGTGTGTGCGTGTGTGTGCGCGCGCGTGTGTGTGCGT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0066 a0004c0027t0001g0066	1	121	0.0083	-48	c.11 others(69): Show c.1104-1709_*1104-1662delTGTGCGTGTGCGTGTGTGCGTGTG TGTGCGCGCGCGTGTGTGTGCGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180666	CGTGTGTG others(41): Show CGTGTGTGTGCGCGCGCGTGTGTGTGCGTGCGTGTGTGTGTGCGCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0071 a0003c0003t0001g0071	1	137	0.0073	-48	c.11 others(69): Show c.1104-1685_*1104-1638delTGTGCGCGCGCGTGTGTGTGCGTG CGTGTGTGTGTGCGCGTGTGTGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM3_chr11_134064072_134157001	134154531	CGGGTGGT others(41): Show CGGGTGGTGCAGCCTCACCCCTCCTGGGTGGTGCAGCCTCGCCCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	378	0.0026	-48	c.53 others(59): Show c.5351_*5398delGGGTGGTGCAGCCTCACCCCTCCTGGGTGGTGCA GCCTCGCCCCTCCT	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding		2531		chr11	TogoVar
KANK4_chr1_62231165_62324434	62278320	TCTTCCTT others(41): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19030.hp1 HG03579.hp1 NA19030.hp1	a0003 a0008 a0003 a0008	a0003c0035 a0008c0037 a0003c0035 a0008c0037	a0003c0035t0009 a0008c0037t0027 a0003c0035t0009 a0008c0037t0027	a0003c0035t0009g0014 a0008c0037t0027g0309 a0003c0035t0009g0014 a0008c0037t0027g0309	2	262	0.0076	-48	c.16+ others(63): Show c.16+3181_16+3228delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAG	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9			chr1	TogoVar
KCNAB1_chr3_156115578_156543605	156448712	TTATTCAT others(41): Show TTATTCATTTTTCTATAAGTCATAATAAAGATGTTTGTTTGGTAGGAAA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp1 HG02055.hp2 others(16): Show HG01346.hp1 HG01884.hp1 HG02055.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0010 a0001c0003t0001 a0002c0004t0001 a0002c0004t0004 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0030 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0005g0078 a0001c0001t0006g0098 a0001c0001t0012g0063 a0001c0002t0010g0014 a0001c0003t0001g0021 a0002c0004t0001g0033 a0002c0004t0004g0032 a0003c0005t0001g0050	19	124	0.1532	-48	c.320 others(65): Show c.320-4137_320-4090delATTCATTTTTCTATAAGTCATAATAAAG ATGTTTGTTTGGTAGGAAAT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156489382	CGATAGGT others(41): Show CGATAGGTCAAGTAAGATGAAGACGGGATCAGCTATATCAAATGTTACT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	124	0.0081	-48	c.658 others(67): Show c.658+14586_658+14633delGGGATCAGCTATATCAAATGTTACTG ATAGGTCAAGTAAGATGAAGAC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	20766728	TCTAGGAC others(41): Show TCTAGGACTAAGCTTTGATACTGCAAATGTCTTCGTGTCCATACAATAG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	80	0.0125	-48	c.289 others(65): Show c.289-7886_289-7839delCTATTGTATGGACACGAAGACATTTGCA GTATCAAAGCTTAGTCCTAG	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	3/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528740	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp2 HG02630.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0001 a0001c0001t0015 a0001c0002t0001	a0001c0001t0015g0023 a0001c0002t0001g0055 a0001c0001t0015g0023 a0001c0002t0001g0055	2	75	0.0267	-48	c.61+ others(67): Show c.61+419783_61+419830delCCTTTCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528760	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	76	0.0132	-48	c.61+ others(67): Show c.61+419763_61+419810delCCTTCCTTTCTTCCTTTCTTCCTTTC TTCCTTTCTTTCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNK10_chr14_88175108_88328269	88310157	CATATACC others(41): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp2 HG02258.hp1 others(6): Show HG01069.hp1 HG01099.hp2 HG02258.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03704.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0031 a0001c0001t0058 others(4): Show a0001c0001t0001 a0001c0001t0031 a0001c0001t0058 a0001c0002t0023 a0001c0005t0002 a0001c0005t0016 a0002c0004t0061	a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0031g0037 a0001c0001t0058g0040 a0001c0002t0023g0042 a0001c0005t0002g0046 a0001c0005t0016g0039 a0002c0004t0061g0043	9	274	0.0328	-48	c.52+ others(65): Show c.52+12542_52+12589delCATATACCATATGATATGGTATATCATA TACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNQ5_chr6_72617064_73203853	72941666	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02970.hp2 others(3): Show HG02109.hp2 HG02559.hp2 HG02970.hp2 HG03041.hp2 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0022 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0022 a0001c0001t0029 a0001c0002t0013	a0001c0001t0002g0006 a0001c0001t0005g0073 a0001c0001t0022g0075 others(3): Show a0001c0001t0002g0006 a0001c0001t0005g0073 a0001c0001t0022g0075 a0001c0001t0029g0046 a0001c0002t0013g0042 a0001c0002t0013g0043	6	8	0.7500	-48	c.399 others(67): Show c.399-62204_399-62157delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT2_chr1_196220779_196613440	196578164	GAAACCTG others(41): Show GAAACCTGCAGTCTTACCACACTCCATAGTTAGGAAAAAAAACAATCCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(82): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp1 NA19009.hp2 NA19062.hp1 NA19062.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0002c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(82): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0003g0036 a0001c0001t0003g0082 a0001c0001t0006g0001 a0001c0001t0009g0035 a0001c0001t0011g0067 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0001g0026 a0001c0006t0001g0061 a0001c0006t0001g0068 a0002c0008t0001g0014	85	134	0.6343	-48	c.95+ others(65): Show c.95+30003_95+30050delGGGATTGTTTTTTTTCCTAACTATGGAG TGTGGTAAGACTGCAGGTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNV2_chr9_2712510_2735037	2722150	GTTATTTA others(41): Show GTTATTTATAAATAAATTAGAAGTTATTTATAAATAAAATAGAAGTTAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG04184.hp2 NA18995.hp2 HG02280.hp2 HG04184.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0001t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0097 a0001c0002t0002g0077 a0001c0003t0001g0013 a0001c0001t0001g0097 a0001c0002t0002g0077 a0001c0003t0001g0013	3	419	0.0072	-48	c.135 others(67): Show c.1356+3086_1356+3133delAAATAAAATAGAAGTTATTTATTTAT AAATAAATTAGAAGTTATTTAT	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCTD16_chr5_144165873_144490686	144299078	GTATATAT others(41): Show GTATATATATATCACTATGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0099 a0001c0002t0005g0099	1	107	0.0093	-48	c.832 others(67): Show c.832+91544_832+91591delCACTATGTATATATATATATATATAT ATATATATATATATATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD3_chr1_215562304_215626807	215623237	ACAATTGG others(41): Show ACAATTGGTAAAATGTGAGTCAGGAGATTTAAATTTAAAGAGGTTCATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	312	0.0032	-48	c.26 others(59): Show c.2620_*2667delCAATTGGTAAAATGTGAGTCAGGAGATTTAAATT TAAAGAGGTTCATC	KCTD3	ENSG00000136636.13	transcript	ENST00000259154.9	protein_coding		1431		chr1	TogoVar
KDM5C_chrX_53187158_53230207	53216834	AAAGATAC others(41): Show AAAGATACAGGTATAAAGAGAAAGAAGAGTTCTACTTCTATGAGCAGAG	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	239	0.0042	-48	c.657 others(63): Show c.657+261_657+308delCTCTGCTCATAGAAGTAGAACTCTTCTTTC TCTTTATACCTGTATCTT	KDM5C	ENSG00000126012.13	transcript	ENST00000375401.8	protein_coding	5/25			chrX	TogoVar

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