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
ITK_chr5_157175840_157260185	157233963	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	348	0.0029	15	c.768 others(32): Show c.768+1570_768+1571insATATATATATATATT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITK_chr5_157175840_157260185	157233964	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02895.hp2 NA18959.hp2 others(2): Show HG01433.hp2 HG02895.hp2 NA18959.hp2 NA18994.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0017	a0001c0001t0001g0172 a0001c0001t0001g0238 a0001c0001t0002g0127 others(2): Show a0001c0001t0001g0172 a0001c0001t0001g0238 a0001c0001t0002g0127 a0001c0001t0006g0199 a0001c0001t0017g0186	5	348	0.0144	15	c.768 others(32): Show c.768+1570_768+1571insATATATATATATATA	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16			chr5	TogoVar
ITLN2_chr1_160940025_160959809	160942871	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG00741.hp2 others(20): Show HG00558.hp2 HG00741.hp1 HG00741.hp2 HG01255.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG02258.hp1 HG02486.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03540.hp2 HG04228.hp2 NA18956.hp2 NA18968.hp1 NA18984.hp1 NA19067.hp2 NA19072.hp1 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0009	a0001c0001 a0002c0006 a0004c0005 others(3): Show a0001c0001 a0002c0006 a0004c0005 a0006c0007 a0008c0009 a0009c0016	a0001c0001t0001 a0002c0006t0001 a0004c0005t0001 others(3): Show a0001c0001t0001 a0002c0006t0001 a0004c0005t0001 a0006c0007t0001 a0008c0009t0001 a0009c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0053 a0001c0001t0001g0090 a0001c0001t0001g0117 a0001c0001t0001g0127 a0002c0006t0001g0056 a0004c0005t0001g0016 a0004c0005t0001g0132 a0006c0007t0001g0038 a0006c0007t0001g0063 a0006c0007t0001g0089 a0006c0007t0001g0113 a0008c0009t0001g0028 a0008c0009t0001g0114 a0009c0016t0001g0059	23	480	0.0479	15	c.22 others(26): Show c.2268_*2269insTTTTTTTTTTTTTTT	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		2153		chr1	TogoVar
ITLN2_chr1_160940025_160959809	160957644	C C	CATTAGTT others(8): Show CATTAGTTGAATGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0059 a0009c0016t0001g0059	1	480	0.0021	15	c.-29 others(26): Show c.-2904_-2903insATGCATTCAACTAAT	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		2836		chr1	TogoVar
ITM2C_chr2_230859942_230884248	230869849	G G	GGGTCCCT others(8): Show GGGTCCCTGGACTTCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp1 HG02895.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0059 a0001c0001t0008g0058 a0001c0001t0008g0059	2	398	0.0050	15	c.121 others(32): Show c.121-3565_121-3551dupTCCCTGGACTTCCGG	ITM2C	ENSG00000135916.16	transcript	ENST00000326427.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITPA_chr20_3204498_3228860	3207696	A A	AAACAACA others(8): Show AAACAACAACAACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG01261.hp2 others(12): Show HG01106.hp1 HG01175.hp2 HG01261.hp2 HG01515.hp2 HG02300.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 NA18950.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0102 a0001c0001t0001g0103 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0002t0001g0023 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0107 a0001c0002t0001g0222 a0001c0002t0001g0226 a0001c0002t0001g0239 a0001c0002t0001g0246 a0001c0005t0001g0104	15	414	0.0362	15	c.-18 others(26): Show c.-1856_-1855insAACAACAACAACAAC	ITPA	ENSG00000125877.13	transcript	ENST00000380113.8	protein_coding		1801		chr20	TogoVar
ITPR1_chr3_4488348_4852506	4629064	C C	CTAAGCAT others(8): Show CTAAGCATGAGACACG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01243.hp2 others(38): Show HG00735.hp1 HG01081.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03540.hp1 HG03704.hp2 HG03834.hp2 HG06807.hp1 NA18612.hp2 NA18982.hp2 NA18983.hp2 NA19030.hp1 NA19043.hp1 NA19074.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0001c0003 a0001c0005 others(33): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0016 a0001c0017 a0001c0018 a0001c0020 a0001c0023 a0001c0025 a0001c0026 a0001c0027 a0001c0030 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0040 a0001c0044 a0001c0045 a0001c0047 a0001c0048 a0001c0050 a0001c0051 a0001c0059 a0001c0070 a0001c0073 a0001c0074 a0001c0087 a0004c0098 a0005c0092	a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 others(36): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0007t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0003 a0001c0016t0006 a0001c0017t0007 a0001c0018t0001 a0001c0020t0002 a0001c0023t0003 a0001c0025t0007 a0001c0026t0018 a0001c0027t0002 a0001c0030t0001 a0001c0034t0001 a0001c0035t0011 a0001c0036t0001 a0001c0037t0001 a0001c0038t0009 a0001c0040t0001 a0001c0044t0001 a0001c0045t0005 a0001c0047t0001 a0001c0048t0006 a0001c0050t0004 a0001c0051t0001 a0001c0059t0011 a0001c0070t0007 a0001c0073t0001 a0001c0074t0003 a0001c0087t0002 a0004c0098t0004 a0005c0092t0006	a0001c0002t0002g0058 a0001c0002t0006g0075 a0001c0003t0001g0056 others(38): Show a0001c0002t0002g0058 a0001c0002t0006g0075 a0001c0003t0001g0056 a0001c0003t0001g0085 a0001c0005t0002g0140 a0001c0006t0001g0126 a0001c0006t0002g0157 a0001c0006t0006g0003 a0001c0007t0001g0147 a0001c0009t0001g0124 a0001c0012t0001g0009 a0001c0013t0003g0138 a0001c0016t0006g0023 a0001c0017t0007g0025 a0001c0017t0007g0173 a0001c0018t0001g0097 a0001c0020t0002g0040 a0001c0023t0003g0137 a0001c0025t0007g0112 a0001c0026t0018g0117 a0001c0027t0002g0109 a0001c0030t0001g0063 a0001c0034t0001g0169 a0001c0035t0011g0001 a0001c0036t0001g0019 a0001c0037t0001g0111 a0001c0038t0009g0119 a0001c0040t0001g0049 a0001c0044t0001g0069 a0001c0045t0005g0159 a0001c0047t0001g0135 a0001c0048t0006g0153 a0001c0050t0004g0134 a0001c0051t0001g0116 a0001c0059t0011g0094 a0001c0070t0007g0165 a0001c0073t0001g0128 a0001c0074t0003g0048 a0001c0087t0002g0170 a0004c0098t0004g0016 a0005c0092t0006g0067	41	176	0.2330	15	c.279 others(32): Show c.279+1191_279+1192insATGAGACACGTAAGC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4629064	C C	CTAAGCAT others(8): Show CTAAGCATGAGACGCG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0006 a0001c0008t0001g0006	1	176	0.0057	15	c.279 others(32): Show c.279+1191_279+1192insATGAGACGCGTAAGC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	5/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4697455	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0005 a0001c0057t0005	a0001c0057t0005g0144 a0001c0057t0005g0144	1	176	0.0057	15	c.440 others(32): Show c.4407+197_4407+198insTTTTTTTTTTTTTTT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	34/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26462154	C C	CTTTTGTT others(8): Show CTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(52): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01981.hp1 HG02004.hp1 HG02132.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02735.hp1 HG03017.hp1 HG03239.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 NA18522.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA18980.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0018 a0001c0020 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0035 a0001c0042 a0001c0043 a0001c0046 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0062 a0002c0009 a0002c0010 a0006c0066	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0017 a0001c0002t0029 a0001c0002t0040 a0001c0003t0014 a0001c0003t0023 a0001c0003t0033 a0001c0004t0003 a0001c0004t0006 a0001c0004t0011 a0001c0004t0048 a0001c0005t0005 a0001c0005t0016 a0001c0005t0031 a0001c0006t0026 a0001c0007t0001 a0001c0007t0002 a0001c0007t0005 a0001c0007t0021 a0001c0008t0002 a0001c0008t0037 a0001c0011t0002 a0001c0012t0006 a0001c0012t0039 a0001c0013t0002 a0001c0013t0022 a0001c0018t0006 a0001c0020t0001 a0001c0021t0006 a0001c0022t0002 a0001c0025t0024 a0001c0026t0020 a0001c0026t0053 a0001c0027t0055 a0001c0027t0056 a0001c0028t0001 a0001c0028t0010 a0001c0035t0027 a0001c0042t0025 a0001c0043t0054 a0001c0046t0002 a0001c0057t0002 a0001c0058t0050 a0001c0059t0002 a0001c0060t0002 a0001c0062t0020 a0002c0009t0001 a0002c0010t0016 a0006c0066t0001	a0001c0001t0001g0040 a0001c0001t0002g0095 a0001c0001t0003g0074 others(52): Show a0001c0001t0001g0040 a0001c0001t0002g0095 a0001c0001t0003g0074 a0001c0001t0003g0096 a0001c0001t0010g0127 a0001c0002t0001g0071 a0001c0002t0017g0070 a0001c0002t0029g0072 a0001c0002t0040g0047 a0001c0003t0014g0038 a0001c0003t0014g0099 a0001c0003t0023g0135 a0001c0003t0033g0081 a0001c0004t0003g0093 a0001c0004t0006g0058 a0001c0004t0011g0128 a0001c0004t0048g0115 a0001c0005t0005g0086 a0001c0005t0016g0025 a0001c0005t0031g0104 a0001c0006t0026g0002 a0001c0007t0001g0057 a0001c0007t0002g0066 a0001c0007t0005g0041 a0001c0007t0021g0117 a0001c0008t0002g0097 a0001c0008t0037g0031 a0001c0011t0002g0035 a0001c0012t0006g0080 a0001c0012t0039g0079 a0001c0013t0002g0020 a0001c0013t0022g0129 a0001c0018t0006g0077 a0001c0020t0001g0085 a0001c0021t0006g0033 a0001c0022t0002g0004 a0001c0025t0024g0139 a0001c0026t0020g0113 a0001c0026t0053g0142 a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0028t0001g0010 a0001c0028t0010g0125 a0001c0035t0027g0026 a0001c0042t0025g0001 a0001c0043t0054g0140 a0001c0046t0002g0063 a0001c0057t0002g0054 a0001c0058t0050g0116 a0001c0059t0002g0090 a0001c0060t0002g0069 a0001c0062t0020g0126 a0002c0009t0001g0027 a0002c0010t0016g0028 a0006c0066t0001g0055	55	142	0.3873	15	c.634 others(36): Show c.6342+13127_6342+13141dupCAAAACAAAACAAAA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	45/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516213	G G	GAAGGAAA others(8): Show GAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02132.hp1 HG02523.hp2 others(4): Show HG01346.hp2 HG02132.hp1 HG02523.hp2 HG02630.hp1 HG03195.hp1 HG03453.hp2 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0001c0029 a0001c0035 a0001c0044 a0001c0054	a0001c0002t0007 a0001c0004t0001 a0001c0008t0043 others(4): Show a0001c0002t0007 a0001c0004t0001 a0001c0008t0043 a0001c0029t0049 a0001c0035t0027 a0001c0044t0001 a0001c0054t0023	a0001c0002t0007g0014 a0001c0004t0001g0018 a0001c0008t0043g0111 others(4): Show a0001c0002t0007g0014 a0001c0004t0001g0018 a0001c0008t0043g0111 a0001c0029t0049g0121 a0001c0035t0027g0026 a0001c0044t0001g0067 a0001c0054t0023g0136	7	142	0.0493	15	c.507 others(36): Show c.5074-20968_5074-20954dupTCCTTTCCTTTCCTT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516270	A A	AGGAAAGG others(8): Show AGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0044 a0001c0015t0044	a0001c0015t0044g0106 a0001c0015t0044g0106	1	142	0.0070	15	c.507 others(36): Show c.5074-21011_5074-21010insCTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516275	G G	GGGAAAGG others(8): Show GGGAAAGGAAGGGAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0082 a0001c0022t0003g0082	1	142	0.0070	15	c.507 others(36): Show c.5074-21016_5074-21015insTTTCCCTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516280	G G	GGGAAAGG others(8): Show GGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp1 HG02109.hp1 HG02896.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0053 a0001c0002 a0008c0053	a0001c0002t0036 a0008c0053t0038 a0001c0002t0036 a0008c0053t0038	a0001c0002t0036g0011 a0008c0053t0038g0075 a0001c0002t0036g0011 a0008c0053t0038g0075	2	142	0.0141	15	c.507 others(36): Show c.5074-21021_5074-21020insTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516285	G G	GGGAAAGG others(8): Show GGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0004 a0001c0022t0002g0004	1	142	0.0070	15	c.507 others(36): Show c.5074-21040_5074-21026dupTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516290	A A	AGGAAGGG others(8): Show AGGAAGGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA20752.hp2 HG00140.hp1 NA20752.hp2	a0001 a0001	a0001c0012 a0001c0027 a0001c0012 a0001c0027	a0001c0012t0006 a0001c0027t0055 a0001c0012t0006 a0001c0027t0055	a0001c0012t0006g0080 a0001c0027t0055g0137 a0001c0012t0006g0080 a0001c0027t0055g0137	2	142	0.0141	15	c.507 others(36): Show c.5074-21031_5074-21030insCTTCCTTTCCCTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516295	A A	AGGAAAGG others(8): Show AGGAAAGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0002 a0001c0051t0002	a0001c0051t0002g0005 a0001c0051t0002g0005	1	142	0.0070	15	c.507 others(36): Show c.5074-21036_5074-21035insCTTCCCTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26565903	G G	GGAGGGGA others(8): Show GGAGGGGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp1 HG01074.hp1 others(26): Show HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01192.hp2 HG01346.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03942.hp1 NA18522.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(18): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0011 a0001c0016 a0001c0024 a0001c0030 a0001c0034 a0001c0044 a0001c0054 a0001c0055 a0001c0065 a0002c0017 a0002c0023 a0003c0038 a0003c0047 a0004c0014 a0005c0067 a0008c0053 a0010c0068	a0001c0001t0002 a0001c0002t0004 a0001c0002t0006 others(24): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0036 a0001c0004t0001 a0001c0004t0003 a0001c0004t0011 a0001c0008t0043 a0001c0011t0002 a0001c0016t0042 a0001c0024t0010 a0001c0030t0004 a0001c0034t0004 a0001c0044t0001 a0001c0054t0023 a0001c0055t0008 a0001c0065t0024 a0002c0017t0018 a0002c0023t0019 a0003c0038t0009 a0003c0047t0004 a0004c0014t0013 a0005c0067t0003 a0008c0053t0038 a0010c0068t0004	a0001c0001t0002g0095 a0001c0002t0004g0092 a0001c0002t0006g0015 others(26): Show a0001c0001t0002g0095 a0001c0002t0004g0092 a0001c0002t0006g0015 a0001c0002t0007g0014 a0001c0002t0008g0100 a0001c0002t0036g0011 a0001c0004t0001g0018 a0001c0004t0003g0093 a0001c0004t0011g0128 a0001c0008t0043g0111 a0001c0011t0002g0035 a0001c0016t0042g0107 a0001c0024t0010g0124 a0001c0030t0004g0009 a0001c0034t0004g0050 a0001c0044t0001g0067 a0001c0054t0023g0136 a0001c0055t0008g0059 a0001c0065t0024g0141 a0002c0017t0018g0108 a0002c0017t0018g0109 a0002c0023t0019g0132 a0003c0038t0009g0012 a0003c0047t0004g0076 a0004c0014t0013g0078 a0004c0014t0013g0094 a0005c0067t0003g0007 a0008c0053t0038g0075 a0010c0068t0004g0105	29	142	0.2042	15	c.463 others(34): Show c.4631-3966_4631-3952dupTCCTCTCCTCCCCTC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR3_chr6_33616322_33701562	33661992	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01109.hp1 others(14): Show HG00558.hp2 HG00621.hp1 HG01109.hp1 HG01167.hp1 HG02080.hp1 HG02155.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp2 HG04115.hp2 NA18949.hp1 NA18951.hp2 NA18978.hp1 NA18990.hp1 NA19054.hp2 NA19081.hp1 NA19240.hp2	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0003 a0001c0005 a0001c0014 others(6): Show a0001c0003 a0001c0005 a0001c0014 a0001c0019 a0001c0020 a0001c0076 a0002c0023 a0002c0029 a0020c0081	a0001c0003t0001 a0001c0005t0001 a0001c0005t0003 others(7): Show a0001c0003t0001 a0001c0005t0001 a0001c0005t0003 a0001c0014t0003 a0001c0019t0001 a0001c0020t0001 a0001c0076t0001 a0002c0023t0007 a0002c0029t0002 a0020c0081t0001	a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0005t0001g0093 others(14): Show a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0005t0001g0093 a0001c0005t0001g0139 a0001c0005t0001g0217 a0001c0005t0001g0258 a0001c0005t0003g0092 a0001c0005t0003g0111 a0001c0014t0003g0177 a0001c0014t0003g0178 a0001c0019t0001g0038 a0001c0020t0001g0164 a0001c0076t0001g0240 a0002c0023t0007g0074 a0002c0023t0007g0078 a0002c0029t0002g0022 a0020c0081t0001g0138	17	342	0.0497	15	c.712 others(30): Show c.712-525_712-511dupAAAAAAAAAAAAAAA	ITPR3	ENSG00000096433.11	transcript	ENST00000605930.3	protein_coding	7/57		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITPRID1_chr7_31509090_31661504	31588631	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(180): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18975.hp2 NA18978.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0026	a0001c0002 a0001c0003 a0001c0011 others(30): Show a0001c0002 a0001c0003 a0001c0011 a0001c0014 a0002c0001 a0002c0004 a0002c0033 a0002c0034 a0002c0038 a0003c0005 a0003c0007 a0003c0008 a0004c0006 a0004c0025 a0004c0027 a0004c0044 a0005c0009 a0005c0050 a0006c0010 a0008c0013 a0011c0018 a0013c0026 a0013c0045 a0014c0023 a0015c0024 a0016c0020 a0018c0032 a0019c0051 a0020c0035 a0021c0043 a0023c0036 a0024c0030 a0026c0048	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(53): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0019 a0001c0003t0020 a0001c0003t0021 a0001c0003t0032 a0001c0011t0001 a0001c0011t0002 a0001c0014t0002 a0001c0014t0007 a0001c0014t0018 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0022 a0002c0004t0001 a0002c0004t0002 a0002c0004t0007 a0002c0033t0005 a0002c0034t0005 a0002c0038t0001 a0003c0005t0001 a0003c0005t0003 a0003c0005t0013 a0003c0007t0003 a0003c0007t0027 a0003c0008t0003 a0004c0006t0006 a0004c0025t0003 a0004c0027t0003 a0004c0044t0003 a0005c0009t0004 a0005c0009t0029 a0005c0050t0004 a0006c0010t0031 a0008c0013t0008 a0011c0018t0002 a0013c0026t0008 a0013c0045t0008 a0014c0023t0001 a0015c0024t0006 a0016c0020t0003 a0018c0032t0008 a0019c0051t0001 a0020c0035t0001 a0021c0043t0002 a0023c0036t0001 a0024c0030t0023 a0026c0048t0001	a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 others(178): Show a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0002g0007 a0001c0002t0002g0037 a0001c0002t0002g0068 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0128 a0001c0002t0002g0163 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0229 a0001c0002t0002g0232 a0001c0002t0003g0116 a0001c0002t0012g0092 a0001c0002t0012g0094 a0001c0002t0012g0124 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0022 a0001c0003t0001g0028 a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0049 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0062 a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0078 a0001c0003t0002g0035 a0001c0003t0002g0074 a0001c0003t0007g0059 a0001c0003t0007g0063 a0001c0003t0019g0045 a0001c0003t0020g0034 a0001c0003t0021g0079 a0001c0003t0032g0032 a0001c0011t0001g0012 a0001c0011t0002g0029 a0001c0011t0002g0033 a0001c0011t0002g0038 a0001c0011t0002g0060 a0001c0014t0002g0308 a0001c0014t0002g0309 a0001c0014t0007g0231 a0001c0014t0018g0132 a0002c0001t0001g0183 a0002c0001t0001g0194 a0002c0001t0001g0248 a0002c0001t0001g0284 a0002c0001t0001g0293 a0002c0001t0002g0009 a0002c0001t0002g0027 a0002c0001t0002g0047 a0002c0001t0002g0197 a0002c0001t0002g0203 a0002c0001t0002g0209 a0002c0001t0002g0211 a0002c0001t0002g0218 a0002c0001t0002g0257 a0002c0001t0002g0286 a0002c0001t0003g0176 a0002c0001t0003g0178 a0002c0001t0003g0179 a0002c0001t0003g0181 a0002c0001t0003g0182 a0002c0001t0003g0187 a0002c0001t0005g0186 a0002c0001t0005g0267 a0002c0001t0005g0276 a0002c0001t0005g0283 a0002c0001t0005g0289 a0002c0001t0005g0291 a0002c0001t0007g0046 a0002c0001t0007g0191 a0002c0001t0007g0239 a0002c0001t0007g0277 a0002c0001t0022g0174 a0002c0004t0001g0141 a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0148 a0002c0004t0001g0158 a0002c0004t0001g0159 a0002c0004t0001g0237 a0002c0004t0001g0243 a0002c0004t0001g0252 a0002c0004t0001g0270 a0002c0004t0001g0282 a0002c0004t0002g0149 a0002c0004t0002g0240 a0002c0004t0002g0246 a0002c0004t0002g0255 a0002c0004t0002g0290 a0002c0004t0007g0241 a0002c0033t0005g0292 a0002c0034t0005g0295 a0002c0038t0001g0236 a0003c0005t0001g0185 a0003c0005t0003g0173 a0003c0005t0003g0189 a0003c0005t0003g0205 a0003c0005t0003g0206 a0003c0005t0003g0216 a0003c0005t0003g0217 a0003c0005t0013g0235 a0003c0007t0003g0195 a0003c0007t0003g0198 a0003c0007t0003g0204 a0003c0007t0003g0212 a0003c0007t0027g0202 a0003c0008t0003g0002 a0003c0008t0003g0006 a0003c0008t0003g0151 a0003c0008t0003g0161 a0003c0008t0003g0264 a0004c0006t0006g0130 a0004c0025t0003g0166 a0004c0027t0003g0043 a0004c0044t0003g0099 a0005c0009t0004g0001 a0005c0009t0004g0018 a0005c0009t0004g0019 a0005c0009t0004g0048 a0005c0009t0029g0061 a0005c0050t0004g0081 a0006c0010t0031g0297 a0008c0013t0008g0250 a0008c0013t0008g0251 a0008c0013t0008g0258 a0008c0013t0008g0265 a0008c0013t0008g0266 a0011c0018t0002g0085 a0013c0026t0008g0164 a0013c0045t0008g0298 a0014c0023t0001g0244 a0014c0023t0001g0259 a0015c0024t0006g0253 a0016c0020t0003g0193 a0016c0020t0003g0208 a0018c0032t0008g0268 a0019c0051t0001g0011 a0020c0035t0001g0220 a0021c0043t0002g0123 a0023c0036t0001g0213 a0024c0030t0023g0170 a0026c0048t0001g0004	183	312	0.5865	15	c.122 others(34): Show c.1228+5451_1228+5452insAAAAAAAAAAAAAAA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31599646	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0140 a0006c0010t0004g0140	1	312	0.0032	15	c.122 others(36): Show c.1228+16457_1228+16458insCTTTCTTTCTTTCTT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL2_chr16_19108964_19126629	19110393	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0000 a0001c0001t0016g0000	1	330	0.0030	15	c.-40 others(26): Show c.-4069_-4068insAAAAAAAAAAAAAAA	ITPRIPL2	ENSG00000205730.7	transcript	ENST00000381440.5	protein_coding		3570		chr16	TogoVar
ITPRIPL2_chr16_19108964_19126629	19120626	T T	TATATATA others(8): Show TATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0085 a0001c0003t0085	a0001c0003t0085g0000 a0001c0003t0085g0000	1	330	0.0030	15	c.45 others(26): Show c.4557_*4558insATATATATATATATA	ITPRIPL2	ENSG00000205730.7	transcript	ENST00000381440.5	protein_coding	1/1	4558		chr16	TogoVar
ITPRIP_chr10_104304700_104343465	104309330	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	324	0.0031	15	c.50 others(26): Show c.5077_*5078insATATATATATATATA	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		369		chr10	TogoVar
ITPRIP_chr10_104304700_104343465	104309330	A A	ATATATAT others(8): Show ATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	324	0.0031	15	c.50 others(26): Show c.5077_*5078insAAAAATATATATATA	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		369		chr10	TogoVar
ITPRIP_chr10_104304700_104343465	104309331	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 NA18957.hp1 HG02165.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0179 a0001c0001t0003g0113 a0001c0001t0003g0179	2	324	0.0062	15	c.50 others(26): Show c.5076_*5077insTATATATATATATAT	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		368		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33681616	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp2 HG02280.hp2 others(2): Show HG01106.hp2 HG02109.hp2 HG02280.hp2 HG02572.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0022	a0001c0001t0021 a0001c0002t0008 a0001c0002t0046 others(2): Show a0001c0001t0021 a0001c0002t0008 a0001c0002t0046 a0001c0005t0001 a0001c0022t0036	a0001c0001t0021g0079 a0001c0002t0008g0075 a0001c0002t0046g0073 others(2): Show a0001c0001t0021g0079 a0001c0002t0008g0075 a0001c0002t0046g0073 a0001c0005t0001g0109 a0001c0022t0036g0077	5	242	0.0207	15	c.-32 others(34): Show c.-32-37151_-32-37137dupATTTTATTTTATTTT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33877059	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0222 a0001c0001t0027g0222	1	242	0.0041	15	c.434 others(34): Show c.4341+1550_4341+1551insTTTTTTTTTTTTTTT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24251309	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02056.hp1 HG03490.hp2 others(2): Show HG01099.hp2 HG02056.hp1 HG03490.hp2 HG03492.hp1 HG03710.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0009 a0002c0002 a0009c0009	a0002c0002t0001 a0009c0009t0001 a0002c0002t0001 a0009c0009t0001	a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 others(2): Show a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0182 a0009c0009t0001g0163	5	224	0.0223	15	c.312 others(34): Show c.3120+1021_3120+1035dupTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251309	C C	CAAAAAAA others(8): Show CAAAAAAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00738.hp2 others(38): Show HG00280.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01109.hp2 HG01361.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18949.hp1 NA18956.hp1 NA18963.hp1 NA18964.hp1 NA18972.hp2 NA18981.hp1 NA18985.hp1 NA18993.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19060.hp2 NA19066.hp1 NA19079.hp1	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0001 a0001c0005 a0001c0018 others(2): Show a0001c0001 a0001c0005 a0001c0018 a0013c0020 a0014c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0005t0001 a0001c0018t0001 a0013c0020t0001 a0014c0023t0001	a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0044 others(38): Show a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0008g0154 a0001c0005t0001g0151 a0001c0018t0001g0199 a0013c0020t0001g0078 a0014c0023t0001g0115	41	224	0.1830	15	c.312 others(34): Show c.3120+1035_3120+1036insTTTTATTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251312	A A	AGAAAAAA others(8): Show AGAAAAAATAAAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00642.hp1 others(33): Show HG00140.hp1 HG00323.hp2 HG00642.hp1 HG00733.hp2 HG01081.hp2 HG01123.hp2 HG01433.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03704.hp1 HG03942.hp1 NA18906.hp2 NA18952.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19079.hp2 NA19240.hp2 NA20805.hp2	a0003 a0004 a0008 a0003 a0004 a0008	a0003c0003 a0004c0004 a0008c0012 a0003c0003 a0004c0004 a0008c0012	a0003c0003t0001 a0004c0004t0001 a0004c0004t0004 others(1): Show a0003c0003t0001 a0004c0004t0001 a0004c0004t0004 a0008c0012t0001	a0003c0003t0001g0001 a0003c0003t0001g0017 a0003c0003t0001g0038 others(32): Show a0003c0003t0001g0001 a0003c0003t0001g0017 a0003c0003t0001g0038 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0143 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0193 a0004c0004t0001g0004 a0004c0004t0001g0005 a0004c0004t0001g0009 a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0015 a0004c0004t0001g0019 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0023 a0004c0004t0001g0024 a0004c0004t0001g0025 a0004c0004t0001g0027 a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0001g0129 a0004c0004t0004g0008 a0004c0004t0004g0014 a0004c0004t0004g0016 a0008c0012t0001g0018	36	224	0.1607	15	c.312 others(34): Show c.3120+1032_3120+1033insATTTTTTATTTTTTC	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251328	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18969.hp1 NA18964.hp2 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0186 a0002c0002t0001g0166 a0002c0002t0001g0186	2	224	0.0089	15	c.312 others(34): Show c.3120+1016_3120+1017insATTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
IVD_chr15_40400795_40426308	40422585	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02300.hp2 NA19030.hp2 others(1): Show HG02129.hp1 HG02300.hp2 NA19030.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0094 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0094 a0001c0001t0002g0097	4	378	0.0106	15	c.43 others(26): Show c.4322_*4323insTTTTTTTTTTTTTTT	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1278		chr15	TogoVar
IYD_chr6_150364012_150410969	150388630	G G	GCTTTCTT others(8): Show GCTTTCTTTCTTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0317 a0003c0003t0026g0317	1	414	0.0024	15	c.179 others(30): Show c.179-711_179-710insCTTTCTTTCTTTCTT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
IYD_chr6_150364012_150410969	150402911	A A	ACTGGGGG others(8): Show ACTGGGGGTGATTCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(343): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 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 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.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 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 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 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.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.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0004 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(97): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0045 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0002c0002t0020 a0002c0002t0025 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0044 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0003c0003t0026 a0004c0005t0001 a0005c0004t0023 a0006c0006t0008 a0006c0006t0055	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(283): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0161 a0001c0001t0001g0206 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0058 a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0168 a0001c0001t0002g0175 a0001c0001t0002g0248 a0001c0001t0002g0264 a0001c0001t0004g0013 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0004g0189 a0001c0001t0004g0195 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0205 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0311 a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0188 a0001c0001t0005g0199 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0232 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0312 a0001c0001t0006g0035 a0001c0001t0006g0041 a0001c0001t0006g0043 a0001c0001t0006g0045 a0001c0001t0006g0126 a0001c0001t0006g0182 a0001c0001t0006g0198 a0001c0001t0006g0217 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0250 a0001c0001t0008g0009 a0001c0001t0008g0024 a0001c0001t0008g0098 a0001c0001t0008g0099 a0001c0001t0008g0100 a0001c0001t0008g0109 a0001c0001t0008g0130 a0001c0001t0008g0150 a0001c0001t0009g0002 a0001c0001t0009g0023 a0001c0001t0009g0106 a0001c0001t0009g0111 a0001c0001t0010g0001 a0001c0001t0010g0016 a0001c0001t0010g0052 a0001c0001t0010g0277 a0001c0001t0010g0300 a0001c0001t0011g0014 a0001c0001t0011g0066 a0001c0001t0011g0196 a0001c0001t0011g0208 a0001c0001t0011g0209 a0001c0001t0012g0017 a0001c0001t0012g0018 a0001c0001t0012g0059 a0001c0001t0012g0061 a0001c0001t0012g0064 a0001c0001t0012g0067 a0001c0001t0014g0029 a0001c0001t0014g0085 a0001c0001t0014g0151 a0001c0001t0014g0299 a0001c0001t0015g0007 a0001c0001t0015g0256 a0001c0001t0015g0281 a0001c0001t0015g0282 a0001c0001t0015g0283 a0001c0001t0016g0004 a0001c0001t0016g0124 a0001c0001t0016g0136 a0001c0001t0016g0191 a0001c0001t0016g0192 a0001c0001t0017g0019 a0001c0001t0017g0078 a0001c0001t0017g0141 a0001c0001t0018g0149 a0001c0001t0018g0318 a0001c0001t0018g0319 a0001c0001t0018g0322 a0001c0001t0019g0042 a0001c0001t0019g0229 a0001c0001t0019g0230 a0001c0001t0021g0089 a0001c0001t0021g0090 a0001c0001t0021g0091 a0001c0001t0021g0092 a0001c0001t0024g0038 a0001c0001t0024g0215 a0001c0001t0028g0017 a0001c0001t0028g0063 a0001c0001t0029g0076 a0001c0001t0029g0079 a0001c0001t0030g0142 a0001c0001t0030g0298 a0001c0001t0031g0055 a0001c0001t0032g0252 a0001c0001t0032g0253 a0001c0001t0033g0049 a0001c0001t0034g0261 a0001c0001t0034g0293 a0001c0001t0035g0001 a0001c0001t0035g0265 a0001c0001t0036g0110 a0001c0001t0036g0257 a0001c0001t0037g0053 a0001c0001t0045g0104 a0001c0001t0045g0105 a0001c0001t0049g0176 a0001c0001t0052g0062 a0001c0001t0053g0077 a0001c0001t0054g0018 a0001c0001t0057g0254 a0001c0001t0058g0194 a0001c0001t0059g0035 a0001c0001t0060g0235 a0001c0001t0061g0216 a0001c0001t0062g0197 a0001c0001t0063g0190 a0001c0001t0064g0207 a0001c0001t0065g0143 a0001c0001t0066g0308 a0001c0001t0067g0065 a0001c0001t0068g0060 a0001c0001t0069g0181 a0001c0001t0070g0315 a0001c0001t0071g0228 a0001c0001t0072g0204 a0001c0001t0073g0007 a0001c0001t0074g0030 a0001c0001t0075g0275 a0001c0001t0076g0001 a0001c0001t0077g0001 a0001c0001t0078g0260 a0001c0001t0079g0286 a0001c0001t0080g0088 a0001c0001t0081g0305 a0001c0001t0082g0304 a0001c0001t0083g0006 a0001c0001t0084g0287 a0001c0001t0085g0046 a0001c0001t0086g0048 a0001c0001t0087g0030 a0001c0001t0088g0297 a0001c0001t0089g0054 a0001c0001t0090g0001 a0001c0001t0099g0138 a0001c0001t0100g0026 a0001c0001t0101g0244 a0001c0001t0102g0148 a0001c0001t0103g0027 a0001c0001t0104g0243 a0001c0001t0105g0187 a0001c0001t0106g0024 a0001c0001t0108g0103 a0001c0001t0109g0107 a0001c0001t0110g0122 a0002c0002t0020g0074 a0002c0002t0020g0075 a0002c0002t0020g0139 a0002c0002t0020g0152 a0002c0002t0025g0291 a0002c0002t0025g0313 a0002c0002t0025g0320 a0002c0002t0038g0031 a0002c0002t0039g0028 a0002c0002t0040g0094 a0002c0002t0040g0096 a0002c0002t0041g0290 a0002c0002t0041g0292 a0002c0002t0042g0072 a0002c0002t0042g0073 a0002c0002t0043g0020 a0002c0002t0044g0050 a0002c0002t0091g0068 a0002c0002t0092g0084 a0002c0002t0093g0095 a0002c0002t0094g0097 a0002c0002t0095g0086 a0002c0002t0096g0321 a0002c0002t0097g0255 a0002c0002t0098g0278 a0003c0003t0026g0137 a0003c0003t0026g0316 a0003c0003t0026g0317 a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0093 a0005c0004t0023g0237 a0005c0004t0023g0302 a0005c0004t0023g0303 a0006c0006t0008g0108 a0006c0006t0055g0295	346	414	0.8358	15	c.46 others(26): Show c.4676_*4677insGGGGGTGATTCACCT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	5/5	4677	INFO_REALIGN_3_PRIME	chr6	TogoVar
IZUMO3_chr9_24537952_24550897	24545861	A A	AGGGAACT others(8): Show AGGGAACTGCCAGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0046 a0001c0002t0008g0046	1	426	0.0024	15	c.-22 others(24): Show c.-227_-213dupCAGCTGGCAGTTCCC	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding	1/7	213		chr9	TogoVar
IZUMO3_chr9_24537952_24550897	24546446	C C	CCTTTTCT others(8): Show CCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG02148.hp1 others(19): Show HG00639.hp1 HG00639.hp2 HG02148.hp1 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG04228.hp1 NA18942.hp1 NA18946.hp1 NA18962.hp1 NA18968.hp1 NA18968.hp2 NA18977.hp2 NA18980.hp2 NA18986.hp1 NA18990.hp1 NA19000.hp2 NA19056.hp2 NA19058.hp2 NA19080.hp1 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0026	22	426	0.0516	15	c.-79 others(24): Show c.-798_-797insAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		550		chr9	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTCTCTCT others(8): Show CTCTCTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	258	0.0039	15	c.-12 others(34): Show c.-12+10675_-12+10676insCTCTCTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTCTCTTT others(8): Show CTCTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01361.hp2 HG01517.hp1 others(8): Show HG00099.hp1 HG01361.hp2 HG01517.hp1 HG02074.hp1 HG02165.hp1 NA18940.hp1 NA18941.hp2 NA18961.hp1 NA19005.hp1 NA19086.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0031	a0001c0001t0001g0160 a0001c0001t0003g0007 a0001c0001t0003g0064 others(8): Show a0001c0001t0001g0160 a0001c0001t0003g0007 a0001c0001t0003g0064 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0195 a0001c0001t0003g0258 a0001c0001t0021g0158 a0001c0001t0031g0063	11	258	0.0426	15	c.-12 others(34): Show c.-12+10675_-12+10676insCTCTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTCTTTTT others(8): Show CTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG02572.hp1 others(4): Show HG00558.hp2 HG00621.hp1 HG02572.hp1 NA18967.hp1 NA18977.hp1 NA19056.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0003g0234	7	258	0.0271	15	c.-12 others(34): Show c.-12+10675_-12+10676insCTTTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03688.hp1 HG03654.hp1 HG03688.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0029 a0003c0002t0001 a0001c0001t0029 a0003c0002t0001	a0001c0001t0029g0191 a0003c0002t0001g0190 a0001c0001t0029g0191 a0003c0002t0001g0190	2	258	0.0078	15	c.-12 others(34): Show c.-12+10688_-12+10702dupTTTTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46926021	A A	AATTTTAT others(8): Show AATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 NA18945.hp1 others(4): Show HG03195.hp1 HG03209.hp1 NA18945.hp1 NA18957.hp1 NA19066.hp1 NA19082.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0024	a0001c0001t0002g0013 a0001c0001t0004g0246 a0001c0001t0006g0031 others(4): Show a0001c0001t0002g0013 a0001c0001t0004g0246 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0024g0215	7	258	0.0271	15	c.-12 others(34): Show c.-12+13344_-12+13358dupTTTTATTTTATTTTA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAG2_chr14_105135995_105173776	105154335	T T	TGCTGTCT others(8): Show TGCTGTCTCTCCACCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0057	1	364	0.0028	15	c.788 others(32): Show c.788+1212_788+1226dupGGGTGGAGAGACAGC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	5/25			chr14	TogoVar
JAK1_chr1_64828229_64971549	64970134	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02040.hp1 HG02132.hp1 others(3): Show HG00621.hp1 HG02040.hp1 HG02132.hp1 NA18941.hp2 NA19054.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0002g0172 others(3): Show a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0002g0172 a0001c0002t0002g0142 a0001c0002t0002g0159 a0001c0002t0002g0161	6	326	0.0184	15	c.-38 others(26): Show c.-3894_-3880dupTTTTTTTTTTTTTTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding		3586		chr1	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG03225.hp1 others(1): Show HG01884.hp2 HG02922.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0042 a0001c0004t0006 a0001c0002t0042 a0001c0004t0006	a0001c0002t0042g0022 a0001c0004t0006g0006 a0001c0004t0006g0040 others(1): Show a0001c0002t0042g0022 a0001c0004t0006g0006 a0001c0004t0006g0040 a0001c0004t0006g0045	4	364	0.0110	15	c.105 others(34): Show c.1057-2366_1057-2352dupAAAAAAAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6081014	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	233	0.0043	15	c.110 others(32): Show c.1101+594_1101+595insTGTGTGTGTGTGTGT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	6/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6191913	T T	TTTTATTT others(8): Show TTTTATTTATTTATTA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19083.hp1 NA18941.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0198 a0001c0001t0001g0086 a0001c0001t0001g0198	2	233	0.0086	15	c.-14 others(34): Show c.-148+8339_-148+8340insTAATAAATAAATAAA	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6191946	T T	TTTATTTA others(8): Show TTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	233	0.0043	15	c.-14 others(34): Show c.-148+8306_-148+8307insTAAATAAATAAATAA	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147637437	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03710.hp2 NA19057.hp2 HG02572.hp1 HG03710.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011	a0001c0002t0005g0234 a0001c0002t0008g0237 a0001c0002t0011g0099 a0001c0002t0005g0234 a0001c0002t0008g0237 a0001c0002t0011g0099	3	250	0.0120	15	c.153 others(32): Show c.1531-404_1531-390dupAAAAAAAAAAAAAAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	10/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132079139	T T	TGGCCTGG others(8): Show TGGCCTGGGAGCGGAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02922.hp1 others(1): Show HG01884.hp2 HG02280.hp1 HG02922.hp1 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0031 a0002c0010 a0002c0031	a0002c0010t0009 a0002c0031t0039 a0002c0010t0009 a0002c0031t0039	a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 others(1): Show a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0031t0039g0088	4	158	0.0253	15	c.-13 others(36): Show c.-138+13083_-138+13097dupTGGGAGCGGACGGCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar

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