Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
IQCM_chr4_149346709_149820843	149582307	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00642.hp1 others(43): Show HG00280.hp1 HG00438.hp1 HG00642.hp1 HG00738.hp1 HG01071.hp1 HG01081.hp1 HG01255.hp2 HG01261.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp2 HG02698.hp2 HG03209.hp1 HG03471.hp2 HG03516.hp2 HG04199.hp1 HG04228.hp1 NA18944.hp1 NA18957.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA19002.hp1 NA19030.hp1 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0010	a0001c0001 a0001c0002 a0004c0007 others(3): Show a0001c0001 a0001c0002 a0004c0007 a0005c0013 a0009c0014 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0004c0007t0001 a0005c0013t0002 a0009c0014t0002 a0010c0010t0001	a0001c0001t0001g0044 a0001c0001t0001g0068 a0001c0001t0001g0092 others(43): Show a0001c0001t0001g0044 a0001c0001t0001g0068 a0001c0001t0001g0092 a0001c0001t0001g0157 a0001c0001t0001g0215 a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0100 a0001c0001t0002g0128 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0004g0252 a0001c0002t0001g0030 a0001c0002t0001g0056 a0001c0002t0002g0029 a0001c0002t0002g0033 a0001c0002t0002g0055 a0001c0002t0002g0063 a0001c0002t0002g0072 a0001c0002t0002g0105 a0001c0002t0002g0125 a0001c0002t0002g0129 a0001c0002t0002g0237 a0001c0002t0002g0238 a0004c0007t0001g0212 a0005c0013t0002g0162 a0009c0014t0002g0134 a0010c0010t0001g0024	46	60	0.7667	-50	c.749 others(67): Show c.749+5573_749+5622delATATATATATATATATATATATATATAT ATATATATATATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	9/13			chr4	TogoVar
IQGAP1_chr15_90383242_90507239	90422610	ATATATAT others(43): Show ATATATATATATATATGTATATATATATATGTATATGTATATATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 NA20129.hp2 HG01891.hp2 HG02809.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0006 a0006c0015 a0001c0006 a0006c0015	a0001c0006t0009 a0001c0006t0026 a0006c0015t0009 a0001c0006t0009 a0001c0006t0026 a0006c0015t0009	a0001c0006t0009g0102 a0001c0006t0026g0103 a0006c0015t0009g0104 a0001c0006t0009g0102 a0001c0006t0026g0103 a0006c0015t0009g0104	3	358	0.0084	-50	c.156 others(67): Show c.156-3484_156-3435delGTATATATATATATGTATATGTATATAT ATATATGTATATATATATATAT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQSEC3_chr12_61767_183455	177126	CCAGGCAG others(43): Show CCAGGCAGGACCCCGTCCCCTGCTCACACAGCTCTTCAAACTTACCAAGG A	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02896.hp1 HG02976.hp1 others(1): Show HG02055.hp2 HG02896.hp1 HG02976.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0005 others(1): Show a0001c0003 a0001c0004 a0003c0005 a0003c0010	a0001c0003t0012 a0001c0004t0012 a0003c0005t0012 others(1): Show a0001c0003t0012 a0001c0004t0012 a0003c0005t0012 a0003c0010t0012	a0001c0003t0012g0049 a0001c0004t0012g0022 a0003c0005t0012g0074 others(1): Show a0001c0003t0012g0049 a0001c0004t0012g0022 a0003c0005t0012g0074 a0003c0010t0012g0034	4	270	0.0148	-50	c.21 others(61): Show c.2132_*2181delACTTACCAAGGACAGGCAGGACCCCGTCCCCTGC TCACACAGCTCTTCAA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	14/14	2132	INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	177165	ACTTACCA others(43): Show ACTTACCAAGGACAGGCAGGACCCCGTCCCCTGCTCACACAGCTCTTCAA G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0246 a0001c0019t0001g0246	1	255	0.0039	-50	c.21 others(61): Show c.2151_*2200delGACCCCGTCCCCTGCTCACACAGCTCTTCAAGCT TACCAAGGACAGGCAG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	14/14	2151	INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	177184	GACCCCGT others(43): Show GACCCCGTCCCCTGCTCACACAGCTCTTCAAGCTTACCAAGGACAGGCAG A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG01496.hp1 others(26): Show HG00733.hp1 HG01243.hp1 HG01496.hp1 HG01891.hp1 HG01952.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA19043.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0013	a0001c0003 a0001c0004 a0001c0043 others(8): Show a0001c0003 a0001c0004 a0001c0043 a0002c0001 a0003c0005 a0004c0008 a0004c0011 a0005c0012 a0006c0013 a0007c0021 a0013c0058	a0001c0003t0004 a0001c0004t0004 a0001c0004t0038 others(17): Show a0001c0003t0004 a0001c0004t0004 a0001c0004t0038 a0001c0004t0055 a0001c0043t0004 a0002c0001t0004 a0002c0001t0009 a0002c0001t0023 a0003c0005t0009 a0003c0005t0022 a0003c0005t0024 a0003c0005t0026 a0003c0005t0057 a0004c0008t0047 a0004c0011t0004 a0005c0012t0004 a0006c0013t0009 a0006c0013t0024 a0007c0021t0004 a0013c0058t0025	a0001c0003t0004g0168 a0001c0004t0004g0031 a0001c0004t0038g0021 others(26): Show a0001c0003t0004g0168 a0001c0004t0004g0031 a0001c0004t0038g0021 a0001c0004t0055g0219 a0001c0043t0004g0063 a0002c0001t0004g0027 a0002c0001t0004g0028 a0002c0001t0004g0029 a0002c0001t0009g0064 a0002c0001t0009g0194 a0002c0001t0023g0017 a0002c0001t0023g0179 a0003c0005t0009g0009 a0003c0005t0009g0055 a0003c0005t0009g0077 a0003c0005t0009g0281 a0003c0005t0022g0068 a0003c0005t0022g0247 a0003c0005t0024g0024 a0003c0005t0026g0230 a0003c0005t0057g0073 a0004c0008t0047g0249 a0004c0011t0004g0148 a0004c0011t0004g0161 a0005c0012t0004g0065 a0006c0013t0009g0248 a0006c0013t0024g0117 a0007c0021t0004g0259 a0013c0058t0025g0272	29	280	0.1036	-50	c.22 others(61): Show c.2201_*2250delAACCCCGTCCCCTGCTCACACAGCTCTTCAAGCT TACCAAGGACAGGCAG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	14/14	2201	INFO_REALIGN_3_PRIME	chr12	TogoVar
ITFG1_chr16_47149391_47466063	47181362	GCCCCCCG others(43): Show GCCCCCCGCCCGGCCAGCCACCCCGTCCGGCAGGGAGATGGGGGGGTCAG C	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp1 HG03516.hp2 HG02280.hp1 HG02970.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106	3	108	0.0278	-50	c.145 others(71): Show c.1454-18748_1454-18699delGCTGACCCCCCCATCTCCCTGCCG GACGGGGTGGCTGGCCGGGCGGGGGG	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	14/17			chr16	TogoVar
ITGA9_chr3_37447141_37828507	37512120	CTTTCTTT others(43): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC T	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01243.hp1 others(9): Show HG00438.hp1 HG00741.hp2 HG01243.hp1 HG02083.hp1 HG03710.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0015 a0001c0001 a0001c0005 a0001c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0005t0003 a0001c0005t0004 a0001c0015t0004	a0001c0001t0001g0014 a0001c0001t0004g0034 a0001c0001t0004g0074 others(9): Show a0001c0001t0001g0014 a0001c0001t0004g0034 a0001c0001t0004g0074 a0001c0001t0004g0090 a0001c0001t0004g0123 a0001c0001t0004g0134 a0001c0001t0005g0127 a0001c0001t0006g0078 a0001c0001t0019g0077 a0001c0005t0003g0151 a0001c0005t0004g0142 a0001c0015t0004g0104	12	122	0.0984	-50	c.898 others(67): Show c.898-1600_898-1551delTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAM_chr16_31254975_31337877	31334554	CCTCCTTC others(43): Show CCTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCCTT T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG01258.hp1 others(2): Show HG00323.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01516.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0005 a0004c0006t0003g0008 a0004c0006t0003g0009 others(2): Show a0004c0006t0003g0005 a0004c0006t0003g0008 a0004c0006t0003g0009 a0004c0006t0003g0011 a0004c0006t0003g0015	5	239	0.0209	-50	c.28 others(61): Show c.2848_*2897delCTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTC CTTCCTTCCTTCCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1678		chr16	TogoVar
ITIH2_chr10_7698316_7754520	7737649	TATATTAT others(43): Show TATATTATATTCTATATTATATTCTATATTTTCTATATTATATTCTATAT A	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp2 HG01993.hp1 others(5): Show HG01123.hp2 HG01346.hp2 HG01993.hp1 NA18981.hp1 NA18995.hp1 NA19001.hp1 NA19005.hp2 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 others(5): Show a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0003t0001g0041	8	356	0.0225	-50	c.195 others(67): Show c.1958-966_1958-917delATATTCTATATTATATTCTATATTTTCT ATATTATATTCTATATAATATT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737660	CTATATTA others(43): Show CTATATTATATTCTATATTTTCTATATTATATTCTATATAATATTCTATA T	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02280.hp1 HG02280.hp2 others(8): Show HG02129.hp2 HG02280.hp1 HG02280.hp2 HG03225.hp2 NA18747.hp1 NA18984.hp1 NA19007.hp1 NA19077.hp1 NA19080.hp1 NA19087.hp2 NA19090.hp2	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0001 a0001c0002 a0007c0010 others(1): Show a0001c0001 a0001c0002 a0007c0010 a0011c0021	a0001c0001t0001 a0001c0002t0001 a0007c0010t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0007c0010t0001 a0011c0021t0001	a0001c0001t0001g0155 a0001c0001t0001g0285 a0001c0002t0001g0003 others(6): Show a0001c0001t0001g0155 a0001c0001t0001g0285 a0001c0002t0001g0003 a0001c0002t0001g0304 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0007c0010t0001g0311 a0011c0021t0001g0305	11	317	0.0347	-50	c.195 others(67): Show c.1958-954_1958-905delATATTCTATATTTTCTATATTATATTCT ATATAATATTCTATATTATATT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7556067	CATATATA others(43): Show CATATATATATATGTATATATATATATATATATGTGTGTGTGTATATATA T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG03516.hp2 HG01081.hp2 HG03516.hp2	a0005 a0015 a0005 a0015	a0005c0013 a0015c0019 a0005c0013 a0015c0019	a0005c0013t0036 a0015c0019t0020 a0005c0013t0036 a0015c0019t0020	a0005c0013t0036g0251 a0015c0019t0020g0101 a0005c0013t0036g0251 a0015c0019t0020g0101	2	204	0.0098	-50	c.69 others(61): Show c.6966_*7015delATATATATACACACACACATATATATATATATAT ATACATATATATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding		3202		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644852	CATATGTA others(43): Show CATATGTATCACATATATATCACATATATATATCACATATATATATCACA T	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG01070.hp1 others(40): Show HG00408.hp2 HG00621.hp1 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01261.hp1 HG01358.hp2 HG01981.hp2 HG02027.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03540.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18942.hp1 NA18950.hp1 NA18959.hp1 NA18965.hp2 NA18977.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp2 NA19002.hp2 NA19043.hp2 NA19058.hp2 NA19080.hp1 NA20905.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0015 a0016 a0033	a0001c0006 a0002c0003 a0003c0005 others(8): Show a0001c0006 a0002c0003 a0003c0005 a0004c0007 a0005c0013 a0006c0046 a0007c0011 a0010c0036 a0015c0019 a0016c0041 a0033c0040	a0001c0006t0001 a0001c0006t0018 a0002c0003t0001 others(14): Show a0001c0006t0001 a0001c0006t0018 a0002c0003t0001 a0002c0003t0012 a0003c0005t0001 a0004c0007t0001 a0004c0007t0005 a0004c0007t0006 a0004c0007t0009 a0005c0013t0004 a0005c0013t0037 a0006c0046t0001 a0007c0011t0029 a0010c0036t0003 a0015c0019t0020 a0016c0041t0014 a0033c0040t0059	a0001c0006t0001g0104 a0001c0006t0001g0107 a0001c0006t0001g0117 others(40): Show a0001c0006t0001g0104 a0001c0006t0001g0107 a0001c0006t0001g0117 a0001c0006t0001g0132 a0001c0006t0001g0136 a0001c0006t0001g0152 a0001c0006t0001g0153 a0001c0006t0018g0156 a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0103 a0002c0003t0001g0121 a0002c0003t0001g0124 a0002c0003t0001g0126 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0197 a0002c0003t0012g0100 a0003c0005t0001g0108 a0003c0005t0001g0109 a0003c0005t0001g0110 a0003c0005t0001g0116 a0003c0005t0001g0119 a0003c0005t0001g0120 a0003c0005t0001g0127 a0003c0005t0001g0128 a0003c0005t0001g0134 a0003c0005t0001g0151 a0004c0007t0001g0122 a0004c0007t0001g0131 a0004c0007t0005g0125 a0004c0007t0006g0112 a0004c0007t0006g0155 a0004c0007t0009g0135 a0005c0013t0004g0113 a0005c0013t0037g0114 a0006c0046t0001g0123 a0007c0011t0029g0013 a0010c0036t0003g0102 a0015c0019t0020g0101 a0015c0019t0020g0111 a0016c0041t0014g0150 a0033c0040t0059g0118	43	340	0.1265	-50	c.136 others(67): Show c.136-2812_136-2763delATGTGATATATATATGTGATATATATAT GTGATATATATGTGATACATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13			chr10	TogoVar
ITPR2_chr12_26330352_26838194	26802559	CTATATAT others(43): Show CTATATATAGATATAGATATAGATATATCTATATATAGATATAGATATAG A	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00741.hp1 others(29): Show HG00323.hp1 HG00642.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01256.hp1 HG01433.hp1 HG01496.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02523.hp1 HG02630.hp1 HG03017.hp1 HG03041.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp1 NA18747.hp2 NA18956.hp1 NA18960.hp1 NA18964.hp1 NA18970.hp2 NA19056.hp2 NA19090.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0016 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0030 a0001c0040 a0001c0043 a0001c0045 a0001c0049 a0002c0023 a0011c0039	a0001c0001t0001 a0001c0001t0017 a0001c0001t0052 others(24): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0052 a0001c0002t0007 a0001c0003t0001 a0001c0003t0014 a0001c0003t0023 a0001c0004t0010 a0001c0004t0048 a0001c0005t0002 a0001c0005t0005 a0001c0005t0031 a0001c0007t0005 a0001c0012t0005 a0001c0016t0003 a0001c0018t0047 a0001c0019t0005 a0001c0019t0011 a0001c0021t0006 a0001c0022t0002 a0001c0030t0004 a0001c0040t0005 a0001c0043t0054 a0001c0045t0001 a0001c0049t0028 a0002c0023t0019 a0011c0039t0001	a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0052 others(29): Show a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0017g0102 a0001c0001t0052g0134 a0001c0002t0007g0027 a0001c0003t0001g0043 a0001c0003t0001g0068 a0001c0003t0014g0044 a0001c0003t0014g0045 a0001c0003t0023g0135 a0001c0004t0010g0120 a0001c0004t0048g0117 a0001c0005t0002g0046 a0001c0005t0005g0093 a0001c0005t0031g0104 a0001c0007t0005g0048 a0001c0012t0005g0010 a0001c0016t0003g0019 a0001c0018t0047g0112 a0001c0019t0005g0049 a0001c0019t0011g0121 a0001c0021t0006g0020 a0001c0022t0002g0005 a0001c0030t0004g0022 a0001c0040t0005g0006 a0001c0043t0054g0140 a0001c0045t0001g0042 a0001c0049t0028g0103 a0002c0023t0019g0113 a0002c0023t0019g0114 a0011c0039t0001g0009	32	140	0.2286	-50	c.93- others(67): Show c.93-12382_93-12333delTCTATATCTATATCTATATATAGATATA TCTATATCTATATCTATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITSN2_chr2_24197864_24365536	24251347	ATGTGTGT others(43): Show ATGTGTGTGTGTGTGTGTGTGTGTGTATATATGTATGTGTATATATATGT G	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	210	0.0048	-50	c.312 others(67): Show c.3120+948_3120+997delCACATATATATACACATACATATATACA CACACACACACACACACACACA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132116693	GATGTGTG others(43): Show GATGTGTGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGA T	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0119 a0004c0011t0001g0119	1	156	0.0064	-50	c.136 others(65): Show c.136-383_136-334delATGTGTGAGTGTGTGCATCATGGACGCTCC CCCCGAATACACATTCAGAT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159606	ATGTGATG others(43): Show ATGTGATGCTGGGGGTCCTCTTCCTTTGTGATGCTGGGGGGCCTCTCCCT G	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0029 a0001c0017t0029	a0001c0017t0029g0012 a0001c0017t0029g0012	1	150	0.0067	-50	c.222 others(69): Show c.2221-3588_2221-3539delTCCTCTTCCTTTGTGATGCTGGGGGG CCTCTCCCTGTGTGATGCTGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180530	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGCGTGCGTGCATGCGTGTGTGTGCGTGTGTGTGTG C	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01255.hp1 others(7): Show HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG02135.hp2 HG03017.hp1 HG03654.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0006 a0002c0005 a0004c0046 others(3): Show a0001c0006 a0002c0005 a0004c0046 a0005c0012 a0005c0050 a0009c0049	a0001c0006t0033 a0002c0005t0010 a0004c0046t0007 others(5): Show a0001c0006t0033 a0002c0005t0010 a0004c0046t0007 a0005c0012t0007 a0005c0012t0010 a0005c0012t0031 a0005c0050t0032 a0009c0049t0010	a0001c0006t0033g0057 a0002c0005t0010g0096 a0004c0046t0007g0091 others(7): Show a0001c0006t0033g0057 a0002c0005t0010g0096 a0004c0046t0007g0091 a0005c0012t0007g0045 a0005c0012t0007g0046 a0005c0012t0007g0048 a0005c0012t0010g0004 a0005c0012t0031g0044 a0005c0050t0032g0116 a0009c0049t0010g0036	10	154	0.0649	-50	c.11 others(71): Show c.1104-1823_*1104-1774delTGTGTGTGTGTGCGTGCGTGCATG CGTGTGTGTGCGTGTGTGTGTGCGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JMY_chr5_79231131_79332211	79270564	ATTTAAAA others(43): Show ATTTAAAATGTATATTTACATAAATATTTAAAATGTATATTTACATAAAT G	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0279 a0001c0001t0032g0279	1	209	0.0048	-50	c.103 others(69): Show c.1033-7341_1033-7292delAAATGTATATTTACATAAATATTTAA AATGTATATTTACATAAATGTTTA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
KATNAL1_chr13_30197630_30312551	30270029	TGTCAGCC others(43): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG G	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02895.hp1 others(4): Show HG01891.hp2 HG02280.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0051 a0001c0001t0096 others(2): Show a0001c0001t0033 a0001c0001t0051 a0001c0001t0096 a0001c0001t0124 a0001c0001t0142	a0001c0001t0033g0033 a0001c0001t0033g0034 a0001c0001t0051g0352 others(4): Show a0001c0001t0033g0033 a0001c0001t0033g0034 a0001c0001t0051g0352 a0001c0001t0051g0353 a0001c0001t0096g0053 a0001c0001t0124g0036 a0001c0001t0142g0155	7	311	0.0225	-50	c.323 others(68): Show c.323+9984_323+10033delCCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGAC	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNB1_chr16_57730770_57762244	57745294	ACCTGAGG others(43): Show ACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCCA T	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.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 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0002c0005 a0002c0017 a0003c0007 a0003c0008 a0003c0012 a0003c0018 a0004c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0013t0001 a0001c0014t0003 a0001c0015t0001 a0001c0020t0002 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0002 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0017t0001 a0003c0007t0001 a0003c0007t0007 a0003c0008t0001 a0003c0008t0002 a0003c0012t0001 a0003c0018t0002 a0004c0022t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 others(220): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0068 a0001c0001t0002g0091 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0247 a0001c0001t0003g0013 a0001c0001t0003g0030 a0001c0001t0003g0051 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0004g0236 a0001c0001t0005g0005 a0001c0001t0005g0090 a0001c0001t0008g0229 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0232 a0001c0002t0001g0249 a0001c0002t0002g0022 a0001c0002t0002g0116 a0001c0002t0002g0160 a0001c0002t0002g0197 a0001c0002t0002g0200 a0001c0002t0002g0216 a0001c0002t0004g0235 a0001c0002t0004g0244 a0001c0002t0006g0137 a0001c0003t0001g0007 a0001c0003t0001g0019 a0001c0003t0001g0037 a0001c0003t0001g0040 a0001c0003t0001g0074 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0136 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0159 a0001c0003t0001g0172 a0001c0003t0001g0185 a0001c0003t0001g0213 a0001c0004t0001g0008 a0001c0004t0001g0024 a0001c0004t0001g0061 a0001c0004t0001g0084 a0001c0004t0001g0092 a0001c0004t0001g0102 a0001c0004t0001g0150 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0194 a0001c0004t0002g0060 a0001c0009t0001g0046 a0001c0009t0001g0180 a0001c0009t0001g0181 a0001c0010t0001g0016 a0001c0010t0001g0225 a0001c0011t0001g0117 a0001c0011t0001g0163 a0001c0013t0001g0007 a0001c0013t0001g0077 a0001c0013t0001g0078 a0001c0014t0003g0042 a0001c0015t0001g0170 a0001c0015t0001g0178 a0001c0020t0002g0176 a0001c0021t0001g0217 a0001c0023t0001g0001 a0001c0024t0001g0016 a0001c0025t0002g0192 a0002c0005t0001g0043 a0002c0005t0001g0076 a0002c0005t0001g0101 a0002c0005t0001g0144 a0002c0005t0001g0145 a0002c0005t0001g0148 a0002c0005t0001g0157 a0002c0005t0001g0158 a0002c0005t0001g0219 a0002c0005t0001g0220 a0002c0005t0002g0223 a0002c0005t0004g0230 a0002c0017t0001g0226 a0003c0007t0001g0027 a0003c0007t0001g0193 a0003c0007t0007g0027 a0003c0008t0001g0149 a0003c0008t0001g0231 a0003c0008t0002g0138 a0003c0008t0002g0215 a0003c0012t0001g0008 a0003c0012t0001g0151 a0003c0012t0001g0152 a0003c0018t0002g0228 a0004c0022t0001g0080	343	400	0.8575	-50	c.289 others(65): Show c.289+835_289+884delCTGAGGTTGGGAGTTCGAGACCAGCCTGAC CAACGTGGAGAAACCCCATC	KATNB1	ENSG00000140854.13	transcript	ENST00000379661.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	15050016	CAGAGTAG others(43): Show CAGAGTAGAGTAGGGTAGGGTAGGGTAGGGTAGGGTAGGGTAGGGTAGGG T	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02055.hp1 HG02109.hp1 others(9): Show HG01258.hp2 HG02055.hp1 HG02109.hp1 HG02451.hp1 HG02523.hp2 HG02615.hp2 HG02717.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001	a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0092 others(9): Show a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0092 a0001c0001t0002g0137 a0001c0001t0005g0014 a0001c0001t0008g0043 a0002c0002t0001g0011 a0002c0002t0001g0047 a0002c0002t0001g0062 a0002c0002t0001g0084 a0002c0002t0001g0128 a0002c0002t0001g0143	12	146	0.0822	-50	c.726 others(67): Show c.726+5870_726+5919delGGTAGGGTAGGGTAGGGTAGGGTAGGGT AGGGTAGGGTAGAGTAGAGTAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNH7_chr2_162366407_162843767	162752903	AAAAAGAA others(43): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA G	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0042 a0001c0006t0001g0042	1	10	0.1000	-50	c.307 others(69): Show c.307+83584_307+83633delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21234476	GTACATAT others(43): Show GTACATATAACGTATATAATATATATTACATATAACGTATATAATATATA T	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02647.hp2 HG02886.hp2 others(5): Show HG01433.hp2 HG02647.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0004t0004	a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0004g0025 others(5): Show a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0004g0025 a0001c0001t0005g0027 a0001c0001t0007g0016 a0001c0001t0010g0033 a0001c0002t0001g0040 a0001c0004t0004g0058	8	52	0.1538	-50	c.62- others(69): Show c.62-351817_62-351768delATATATATTATATACGTTATATGTAA TATATATTATATACGTTATATGTA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21714786	ATTATTTT others(43): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT T	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0050 a0001c0002t0006g0050	1	66	0.0152	-50	c.61+ others(69): Show c.61+233735_61+233784delAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ6_chr21_37602373_37921457	37717340	TGGAGGCA others(43): Show TGGAGGCAGAGGCCATGTCCTTCTCACTGGAGTTAGGGTGGGTGTGTGGA G	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp2 others(15): Show HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00673.hp1 HG02071.hp2 HG02083.hp2 HG02165.hp2 HG04199.hp1 NA18944.hp2 NA18950.hp1 NA18961.hp2 NA18971.hp2 NA19001.hp1 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0012 a0001c0001t0075 a0001c0001t0112 others(15): Show a0001c0001t0012 a0001c0001t0075 a0001c0001t0112 a0001c0001t0178 a0001c0002t0146 a0001c0002t0147 a0001c0002t0151 a0001c0002t0152 a0001c0003t0017 a0001c0003t0070 a0001c0003t0074 a0001c0003t0102 a0001c0003t0118 a0001c0003t0119 a0001c0003t0122 a0001c0003t0134 a0001c0003t0181 a0001c0004t0018	a0001c0001t0012g0002 a0001c0001t0075g0106 a0001c0001t0112g0074 others(15): Show a0001c0001t0012g0002 a0001c0001t0075g0106 a0001c0001t0112g0074 a0001c0001t0178g0044 a0001c0002t0146g0176 a0001c0002t0147g0094 a0001c0002t0151g0066 a0001c0002t0152g0004 a0001c0003t0017g0182 a0001c0003t0070g0038 a0001c0003t0074g0112 a0001c0003t0102g0064 a0001c0003t0118g0111 a0001c0003t0119g0121 a0001c0003t0122g0027 a0001c0003t0134g0181 a0001c0003t0181g0033 a0001c0004t0018g0186	18	196	0.0918	-50	c.26- others(65): Show c.26-2259_26-2210delCTCCACACACCCACCCTAACTCCAGTGAGA AGGACATGGCCTCTGCCTCC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37717427	GTGGGTGT others(43): Show GTGGGTGTATGGATGGAGGCAAAGGCCATGTCCTTCTCACTGGAGGTGGG T	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG02083.hp1 HG00438.hp2 HG00609.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0020 a0001c0003t0054 a0001c0003t0116 a0001c0001t0020 a0001c0003t0054 a0001c0003t0116	a0001c0001t0020g0104 a0001c0003t0054g0005 a0001c0003t0116g0116 a0001c0001t0020g0104 a0001c0003t0054g0005 a0001c0003t0116g0116	3	196	0.0153	-50	c.26- others(65): Show c.26-2346_26-2297delACCCACCTCCAGTGAGAAGGACATGGCCTT TGCCTCCATCCATACACCCA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNMB1_chr5_170369671_170394367	170393942	TTAAAAAA others(43): Show TTAAAAAAATGCTTTTTCCTTAGTGCAAATCATCCCAGCTCTGTGGGAAA G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	430	0.0023	-50	c.-47 others(61): Show c.-4758_-4709delCTTTCCCACAGAGCTGGGATGATTTGCACTAAGG AAAAAGCATTTTTTTA	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		4576		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178759725	TACACATA others(43): Show TACACATATATATATCCAAGAGGATATATCTATATATATATATCCAAGAG G	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0202 a0001c0001t0004g0202	1	217	0.0046	-50	c.-67 others(69): Show c.-67-47616_-67-47567delCACATATATATATCCAAGAGGATATA TCTATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63399163	GTGTGGGG others(43): Show GTGTGGGGTCCATCCTTGGAGGGGGCCGTGGGGTCTGTCCCTGGAGGGGG C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02896.hp2 others(3): Show HG02055.hp1 HG02559.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03195.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0025 a0001c0002 a0004c0025	a0001c0002t0021 a0001c0002t0076 a0004c0025t0077 a0001c0002t0021 a0001c0002t0076 a0004c0025t0077	a0001c0002t0021g0028 a0001c0002t0021g0106 a0001c0002t0021g0107 others(3): Show a0001c0002t0021g0028 a0001c0002t0021g0106 a0001c0002t0021g0107 a0001c0002t0021g0108 a0001c0002t0076g0052 a0004c0025t0077g0199	6	328	0.0183	-50	c.74 others(61): Show c.7431_*7480delGCCCCCTCCAGGGACAGACCCCACGGCCCCCTCC AAGGATGGACCCCACA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding		1044		chr20	TogoVar
KCP_chr7_128871865_128915709	128896023	GGGTCTGG others(43): Show GGGTCTGGATCAGGACTCCTTTCCTGTAACATCTTTCTGGCGACCACTGA A	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0137 a0009c0012t0002g0137	1	370	0.0027	-50	c.832 others(67): Show c.832-1780_832-1731delTTCAGTGGTCGCCAGAAAGATGTTACAG GAAAGGAGTCCTGATCCAGACC	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	8/39			chr7	TogoVar
KCTD8_chr4_44168903_44453809	44181176	TGGTCTCC others(43): Show TGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTCCCTCTCTTTCCA C	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(102): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03017.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19089.hp1 NA19089.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0004t0001 a0001c0006t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 others(102): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0256 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0002g0097 a0001c0001t0002g0138 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0005g0001 a0001c0001t0008g0073 a0001c0001t0009g0293 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0006t0001g0008 a0002c0003t0001g0289 a0003c0005t0001g0004	105	285	0.3684	-50	c.962 others(67): Show c.962-5976_962-5927delGTGGAAAGAGAGGGAGAGGGAGACCGTG GAAAGAGAGGGAGAGGGAGACC	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM6A_chrX_44868188_45117779	45040661	CCGGGCGG others(43): Show CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG A	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp1 HG01169.hp1 others(3): Show HG00408.hp1 HG01168.hp1 HG01169.hp1 HG02080.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0115 others(3): Show a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122	6	197	0.0305	-50	c.654 others(67): Show c.654+2995_654+3044delCACCTCCCTCCCGGACGGGGCGGCTGGA CGGGCGGGGGGCTGACCCCCCC	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KDM6A_chrX_44868188_45117779	45041090	ACCTCCCG others(43): Show ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCT C	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	196	0.0051	-50	c.654 others(67): Show c.654+3416_654+3465delTGGCTGGCCGGGCGGGGGGCTGACCCCC ACCACCTCCCTCCCGGACGGGG	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KDM7A_chr7_140079746_140181983	140100661	TATATATA others(43): Show TATATATATATATATATATACATATATACATATATATATATATATATACA C	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp1 HG02723.hp2 others(12): Show HG02280.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp2 HG04199.hp2 HG06807.hp2 NA18991.hp2 NA19012.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 others(3): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0003t0001 a0002c0002t0005	a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0057 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0016g0007 a0001c0001t0016g0048 a0001c0001t0021g0058 a0001c0001t0024g0046 a0001c0003t0001g0104 a0002c0002t0005g0023 a0002c0002t0005g0207 a0002c0002t0005g0210	15	340	0.0441	-50	c.163 others(67): Show c.1639-688_1639-639delGTGTATATATATATATATATATGTATAT ATGTATATATATATATATATAT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KDM7A_chr7_140079746_140181983	140100693	TATATATA others(43): Show TATATATATATATATACACATATATATATATATATATATATATATATATA C	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG01952.hp1 others(21): Show HG01106.hp1 HG01884.hp2 HG01952.hp1 HG02055.hp1 HG02257.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 NA18966.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0013 others(2): Show a0001c0001 a0001c0009 a0001c0013 a0002c0002 a0002c0011	a0001c0001t0001 a0001c0001t0034 a0001c0001t0037 others(8): Show a0001c0001t0001 a0001c0001t0034 a0001c0001t0037 a0001c0009t0001 a0001c0013t0028 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011 a0002c0002t0022 a0002c0002t0026 a0002c0011t0005	a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0074 others(21): Show a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0034g0081 a0001c0001t0037g0042 a0001c0009t0001g0111 a0001c0013t0028g0044 a0002c0002t0003g0228 a0002c0002t0003g0264 a0002c0002t0005g0143 a0002c0002t0005g0144 a0002c0002t0011g0142 a0002c0002t0022g0141 a0002c0002t0026g0146 a0002c0011t0005g0145	24	339	0.0708	-50	c.163 others(67): Show c.1639-720_1639-671delGTATATATATATATATATATATATATAT ATATGTGTATATATATATATAT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KIAA1671_chr22_24947716_25202448	25180036	TCTGAAAG others(43): Show TCTGAAAGAGGCAAGACCTGGTGCTCTGGAGCCCTTGGGCTACCCGAGGA A	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00609.hp2 others(81): Show HG00099.hp1 HG00423.hp1 HG00609.hp2 HG00642.hp2 HG01106.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18962.hp1 NA18970.hp2 NA18981.hp2 NA18995.hp2 NA19000.hp1 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0011 a0012 a0021 a0022 a0025 a0027 a0029 a0034	a0001c0001 a0001c0004 a0001c0013 others(39): Show a0001c0001 a0001c0004 a0001c0013 a0001c0030 a0001c0033 a0001c0035 a0001c0039 a0001c0065 a0001c0073 a0001c0081 a0001c0089 a0001c0091 a0001c0122 a0002c0100 a0002c0101 a0002c0105 a0002c0109 a0002c0114 a0002c0119 a0002c0125 a0003c0008 a0003c0026 a0003c0126 a0004c0023 a0004c0051 a0004c0057 a0004c0059 a0006c0021 a0006c0043 a0006c0045 a0008c0096 a0009c0064 a0010c0047 a0011c0024 a0012c0066 a0012c0084 a0021c0092 a0022c0095 a0025c0072 a0027c0069 a0029c0121 a0034c0044	a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 others(48): Show a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 a0001c0004t0007 a0001c0004t0013 a0001c0004t0014 a0001c0004t0028 a0001c0013t0001 a0001c0030t0021 a0001c0030t0039 a0001c0033t0001 a0001c0033t0007 a0001c0035t0001 a0001c0039t0001 a0001c0065t0025 a0001c0073t0022 a0001c0081t0001 a0001c0089t0007 a0001c0091t0001 a0001c0122t0010 a0002c0100t0007 a0002c0101t0001 a0002c0105t0018 a0002c0109t0001 a0002c0114t0001 a0002c0119t0001 a0002c0125t0014 a0003c0008t0001 a0003c0008t0026 a0003c0026t0001 a0003c0126t0001 a0004c0023t0001 a0004c0051t0001 a0004c0057t0001 a0004c0059t0001 a0006c0021t0007 a0006c0021t0024 a0006c0043t0027 a0006c0045t0019 a0008c0096t0007 a0009c0064t0001 a0010c0047t0007 a0011c0024t0007 a0012c0066t0010 a0012c0084t0010 a0021c0092t0001 a0022c0095t0001 a0025c0072t0007 a0027c0069t0018 a0029c0121t0007 a0034c0044t0023	a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0081 others(81): Show a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0242 a0001c0001t0013g0179 a0001c0004t0001g0007 a0001c0004t0001g0036 a0001c0004t0001g0122 a0001c0004t0001g0134 a0001c0004t0001g0152 a0001c0004t0001g0173 a0001c0004t0007g0149 a0001c0004t0013g0196 a0001c0004t0014g0220 a0001c0004t0028g0140 a0001c0013t0001g0112 a0001c0013t0001g0184 a0001c0013t0001g0212 a0001c0013t0001g0245 a0001c0030t0021g0166 a0001c0030t0039g0118 a0001c0033t0001g0117 a0001c0033t0007g0035 a0001c0035t0001g0048 a0001c0035t0001g0055 a0001c0039t0001g0145 a0001c0039t0001g0171 a0001c0065t0025g0066 a0001c0073t0022g0226 a0001c0081t0001g0072 a0001c0089t0007g0232 a0001c0091t0001g0248 a0001c0122t0010g0027 a0002c0100t0007g0062 a0002c0101t0001g0237 a0002c0105t0018g0168 a0002c0109t0001g0024 a0002c0114t0001g0137 a0002c0119t0001g0244 a0002c0125t0014g0202 a0003c0008t0001g0142 a0003c0008t0001g0207 a0003c0008t0001g0208 a0003c0008t0001g0219 a0003c0008t0001g0250 a0003c0008t0026g0201 a0003c0026t0001g0076 a0003c0026t0001g0199 a0003c0126t0001g0107 a0004c0023t0001g0073 a0004c0023t0001g0125 a0004c0051t0001g0206 a0004c0057t0001g0239 a0004c0059t0001g0151 a0006c0021t0007g0065 a0006c0021t0024g0015 a0006c0043t0027g0009 a0006c0045t0019g0228 a0008c0096t0007g0124 a0009c0064t0001g0109 a0010c0047t0007g0079 a0011c0024t0007g0047 a0011c0024t0007g0115 a0012c0066t0010g0251 a0012c0084t0010g0067 a0021c0092t0001g0104 a0022c0095t0001g0214 a0025c0072t0007g0235 a0027c0069t0018g0023 a0029c0121t0007g0169 a0034c0044t0023g0148	84	252	0.3333	-50	c.507 others(69): Show c.5075-1659_5075-1610delAAAGAGGCAAGACCTGGTGCTCTGGA GCCCTTGGGCTACCCGAGGAACTG	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112515011	CGCCCCGT others(43): Show CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC G	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0266 a0001c0002t0014g0266	1	306	0.0033	-50	c.-25 others(69): Show c.-25+27894_-25+27943delGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCG	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112515031	TGGGGGGG others(43): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02083.hp1 HG02486.hp2 others(4): Show HG00438.hp2 HG02083.hp1 HG02486.hp2 HG03041.hp1 NA18522.hp1 NA18964.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0063 a0001c0001t0002 a0001c0001t0003 a0001c0002t0063	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0149 others(4): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0003g0142 a0001c0001t0003g0151 a0001c0002t0063g0010	7	39	0.1795	-50	c.-25 others(69): Show c.-25+27921_-25+27970delTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGG	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIDINS220_chr2_8723858_8842613	8744379	AAAAAAAA others(43): Show AAAAAAAAAAATATATATATATAATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0142 a0004c0009t0001g0176 a0004c0009t0001g0142 a0004c0009t0001g0176	2	314	0.0064	-50	c.358 others(69): Show c.3585+2716_3585+2765delATATATATATATATATATATATATAT ATTATATATATATATTTTTTTTTT	KIDINS220	ENSG00000134313.17	transcript	ENST00000256707.8	protein_coding	26/29			chr2	TogoVar
KIF17_chr1_20659014_20723007	20712632	ATATATAT others(43): Show ATATATATAATATAGATAATATTATCTATATATAATATAGATAATATTAT C	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0096 a0007c0008t0001g0096	1	312	0.0032	-50	c.480 others(65): Show c.480+772_480+821delGATAATATTATCTATATTATATATAGATAA TATTATCTATATTATATATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF21A_chr12_39288228_39448120	39416665	ATATATGT others(43): Show ATATATGTACATATATATGTGTGTATATATATATGTACATATATATGTGT G	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02257.hp1 others(2): Show HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02572.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 others(2): Show a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027	5	296	0.0169	-50	c.44+ others(67): Show c.44+26212_44+26261delCACACATATATATGTACATATATATATA CACACATATATATGTACATATA	KIF21A	ENSG00000139116.19	transcript	ENST00000361418.10	protein_coding	1/37			chr12	TogoVar
KIF21A_chr12_39288228_39448120	39416683	GTGTGTAT others(43): Show GTGTGTATATATATATGTACATATATATGTGTGTATATATGTACATATAT A	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	295	0.0034	-50	c.44+ others(67): Show c.44+26194_44+26243delTATATATGTACATATATACACACATATA TATGTACATATATATATACACA	KIF21A	ENSG00000139116.19	transcript	ENST00000361418.10	protein_coding	1/37			chr12	TogoVar
KLF12_chr13_73681089_74139404	73957015	AGAAAGGA others(43): Show AGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA G	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp1 others(20): Show HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG02083.hp1 HG02602.hp2 HG02698.hp2 HG03017.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 NA18955.hp2 NA19011.hp1 NA19011.hp2 NA19065.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0033 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0018 a0001c0002t0022 a0001c0002t0024 a0001c0002t0028 a0001c0002t0038 a0001c0003t0002	a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0083 others(20): Show a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0016g0011 a0001c0001t0033g0065 a0001c0001t0050g0094 a0001c0001t0051g0077 a0001c0001t0052g0064 a0001c0002t0001g0078 a0001c0002t0002g0012 a0001c0002t0002g0025 a0001c0002t0005g0018 a0001c0002t0018g0009 a0001c0002t0022g0019 a0001c0002t0024g0030 a0001c0002t0028g0016 a0001c0002t0038g0070 a0001c0003t0002g0027	23	31	0.7419	-50	c.34- others(67): Show c.34-12995_34-12946delCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTC	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	2/7			chr13	TogoVar
KLHDC4_chr16_87702812_87770986	87704487	AGGGTCCT others(43): Show AGGGTCCTGAACGTCACGGGGAAGGAGGCGCCTGGGGAGGGCCCTGGGGA G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	378	0.0026	-50	c.35 others(61): Show c.3540_*3589delCTCCCCAGGGCCCTCCCCAGGCGCCTCCTTCCCC GTGACGTTCAGGACCC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		3324		chr16	TogoVar
KPNA2_chr17_68030735_68051854	68045352	ACGTTTAG others(43): Show ACGTTTAGTTTAGCACTCCATAGGCCATCTTTGCCCTTAGACACCTTGAC T	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	338	0.0030	-50	c.134 others(67): Show c.1348-419_1348-370delCGTTTAGTTTAGCACTCCATAGGCCATC TTTGCCCTTAGACACCTTGACT	KPNA2	ENSG00000182481.10	transcript	ENST00000330459.8	protein_coding	9/10			chr17	TogoVar
KPNA7_chr7_99168572_99213115	99180769	GTCTCTCT others(43): Show GTCTCTCTCTCTCTCCCCGTCTGTGTCTCTCTCTCTCTCCCCGTCTGTGT C	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01975.hp1 HG02148.hp1 others(7): Show HG01261.hp2 HG01975.hp1 HG02148.hp1 HG02148.hp2 NA18940.hp2 NA18945.hp2 NA18952.hp2 NA18964.hp2 NA18980.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0007c0013 a0001c0002 a0001c0004 a0007c0013	a0001c0002t0001 a0001c0004t0001 a0007c0013t0001 a0001c0002t0001 a0001c0004t0001 a0007c0013t0001	a0001c0002t0001g0015 a0001c0002t0001g0157 a0001c0002t0001g0164 others(6): Show a0001c0002t0001g0015 a0001c0002t0001g0157 a0001c0002t0001g0164 a0001c0002t0001g0205 a0001c0002t0001g0212 a0001c0002t0001g0224 a0001c0004t0001g0047 a0001c0004t0001g0296 a0007c0013t0001g0204	10	310	0.0323	-50	c.131 others(69): Show c.1317+1064_1317+1113delGACACAGACGGGGAGAGAGAGAGAGA CACAGACGGGGAGAGAGAGAGAGA	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KRT82_chr12_52388931_52411335	52409897	GAGCCCCT others(43): Show GAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	368	0.0027	-50	c.-36 others(61): Show c.-3670_-3621delGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCAGAGGGGCT	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		3563		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409938	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02723.hp1 HG02818.hp1 others(8): Show HG02109.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03654.hp1 HG03704.hp2 HG04199.hp1	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0014	a0002c0002 a0003c0003 a0007c0006 others(1): Show a0002c0002 a0003c0003 a0007c0006 a0014c0017	a0002c0002t0012 a0003c0003t0002 a0003c0003t0004 others(3): Show a0002c0002t0012 a0003c0003t0002 a0003c0003t0004 a0003c0003t0007 a0007c0006t0002 a0014c0017t0004	a0002c0002t0012g0096 a0003c0003t0002g0059 a0003c0003t0002g0083 others(5): Show a0002c0002t0012g0096 a0003c0003t0002g0059 a0003c0003t0002g0083 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0007g0082 a0007c0006t0002g0025 a0014c0017t0004g0081	11	363	0.0303	-50	c.-37 others(61): Show c.-3711_-3662delCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCC	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		3604		chr12	TogoVar
L3MBTL2_chr22_41200312_41236271	41202081	AATATTTT others(43): Show AATATTTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCTAGGC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	368	0.0027	-50	c.-32 others(61): Show c.-3281_-3232delATATTTTTCTATTTTTAGTAGAGATGGGGTTTCA CCATGTTAGCTAGGCT	L3MBTL2	ENSG00000100395.15	transcript	ENST00000216237.10	protein_coding		3230		chr22	TogoVar
LANCL2_chr7_55360337_55438737	55402267	TCCCGGAC others(43): Show TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCTCCCCGCCTCCCT C	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0194 a0001c0004t0006g0194	1	350	0.0029	-50	c.825 others(66): Show c.825+972_825+1021delGGGGGGCTGACCTCCCCGCCTCCCTCCCC GGACGGGGCGGCTGGCCGGGC	LANCL2	ENSG00000132434.10	transcript	ENST00000254770.3	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar

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