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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
IRF7_chr11_607555_620950	613712	TGGGTGGG others(23): Show TGGGTGGGCGGGGACAAGCCGTGAGTGACGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00558.hp1 others(49): Show HG00099.hp1 HG00544.hp2 HG00558.hp1 HG00673.hp1 HG01069.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01943.hp2 HG01952.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG03490.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18747.hp2 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18982.hp1 NA18985.hp2 NA19009.hp2 NA19010.hp1 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19087.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0046 a0001c0001t0001g0001 a0001c0003t0001g0003 a0001c0003t0001g0046	52	405	0.1284	-30	c.847 others(43): Show c.847+43_847+72delCCGTCACTCACGGCTTGTCCCCGCCCACCC		IRF7	ENSG00000185507.21	transcript	ENST00000525445.6	protein_coding	8/10						chr11	TogoVar
ISM1_chr20_13216274_13305651	13268347	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01192.hp2 others(15): Show HG00140.hp2 HG00741.hp1 HG01192.hp2 HG01258.hp1 HG02145.hp1 HG02818.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp1 HG04184.hp1 NA18906.hp2 NA18942.hp2 NA18953.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0020 a0001c0001t0039 a0001c0002t0001	a0001c0001t0001g0067 a0001c0001t0001g0146 a0001c0001t0001g0149 others(15): Show a0001c0001t0001g0067 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0198 a0001c0001t0001g0226 a0001c0001t0001g0311 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0002g0256 a0001c0001t0004g0347 a0001c0001t0005g0057 a0001c0001t0006g0066 a0001c0001t0006g0136 a0001c0001t0006g0374 a0001c0001t0017g0334 a0001c0001t0020g0373 a0001c0001t0039g0192 a0001c0002t0001g0251	18	29	0.6207	-30	c.139 others(47): Show c.139-2129_139-2100delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC		ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
ITGA11_chr15_68291532_68437163	68302055	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG00738.hp2 others(41): Show HG00099.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02897.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA19043.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0019	a0002c0008 a0002c0011 a0002c0016 others(21): Show a0002c0008 a0002c0011 a0002c0016 a0002c0022 a0002c0030 a0002c0035 a0002c0038 a0002c0039 a0002c0080 a0003c0009 a0004c0010 a0004c0013 a0004c0052 a0004c0065 a0004c0076 a0004c0083 a0005c0018 a0005c0032 a0005c0071 a0008c0020 a0009c0019 a0009c0050 a0010c0021 a0019c0049	a0002c0008t0002 a0002c0008t0006 a0002c0008t0007 others(32): Show a0002c0008t0002 a0002c0008t0006 a0002c0008t0007 a0002c0008t0011 a0002c0011t0002 a0002c0011t0006 a0002c0016t0002 a0002c0022t0002 a0002c0022t0007 a0002c0030t0016 a0002c0030t0027 a0002c0035t0002 a0002c0038t0007 a0002c0039t0007 a0002c0080t0002 a0003c0009t0002 a0004c0010t0009 a0004c0013t0007 a0004c0013t0011 a0004c0013t0047 a0004c0013t0048 a0004c0052t0006 a0004c0065t0011 a0004c0076t0009 a0004c0083t0007 a0005c0018t0018 a0005c0018t0026 a0005c0018t0046 a0005c0032t0002 a0005c0071t0002 a0008c0020t0029 a0009c0019t0002 a0009c0050t0002 a0010c0021t0045 a0019c0049t0006	a0002c0008t0002g0073 a0002c0008t0002g0144 a0002c0008t0002g0159 others(41): Show a0002c0008t0002g0073 a0002c0008t0002g0144 a0002c0008t0002g0159 a0002c0008t0006g0176 a0002c0008t0006g0177 a0002c0008t0007g0191 a0002c0008t0011g0030 a0002c0011t0002g0125 a0002c0011t0006g0084 a0002c0016t0002g0051 a0002c0016t0002g0085 a0002c0016t0002g0154 a0002c0016t0002g0163 a0002c0022t0002g0018 a0002c0022t0007g0108 a0002c0030t0016g0136 a0002c0030t0027g0119 a0002c0035t0002g0095 a0002c0035t0002g0096 a0002c0038t0007g0002 a0002c0039t0007g0175 a0002c0080t0002g0227 a0003c0009t0002g0225 a0004c0010t0009g0130 a0004c0010t0009g0131 a0004c0010t0009g0132 a0004c0013t0007g0114 a0004c0013t0011g0183 a0004c0013t0047g0230 a0004c0013t0048g0032 a0004c0052t0006g0145 a0004c0065t0011g0117 a0004c0076t0009g0116 a0004c0083t0007g0143 a0005c0018t0018g0231 a0005c0018t0026g0037 a0005c0018t0046g0031 a0005c0032t0002g0201 a0005c0071t0002g0209 a0008c0020t0029g0127 a0009c0019t0002g0048 a0009c0050t0002g0215 a0010c0021t0045g0029 a0019c0049t0006g0240	44	70	0.6286	-30	c.97 others(40): Show c.974_*1003delACACACACACACACACACACACACACACAC		ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	30/30				974		chr15	TogoVar
ITGA2B_chr17_44367181_44394649	44368126	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG02965.hp2 others(1): Show HG00323.hp2 HG01074.hp1 HG02965.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0075 a0002c0002t0001g0090 others(1): Show a0002c0002t0001g0002 a0002c0002t0001g0075 a0002c0002t0001g0090 a0002c0002t0001g0141	4	305	0.0131	-30	c.42 others(41): Show c.4208_*4237delAAAAAAAAAATATATATATATATATATATA		ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding					4054		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368128	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03516.hp2 HG03130.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0161 a0002c0002t0001g0004 a0002c0002t0001g0161	2	304	0.0066	-30	c.42 others(41): Show c.4206_*4235delAAAAAAAAAAAATATATATATATATATATA		ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding					4052		chr17	TogoVar
ITGA3_chr17_50051110_50095481	50073593	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG01496.hp2 others(10): Show HG00738.hp2 HG01074.hp2 HG01496.hp2 HG01943.hp2 HG02293.hp2 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG03041.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0020 a0001c0004 a0005c0020	a0001c0004t0001 a0001c0004t0022 a0001c0004t0028 others(1): Show a0001c0004t0001 a0001c0004t0022 a0001c0004t0028 a0005c0020t0001	a0001c0004t0001g0008 a0001c0004t0001g0029 a0001c0004t0001g0031 others(9): Show a0001c0004t0001g0008 a0001c0004t0001g0029 a0001c0004t0001g0031 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0050 a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0004t0001g0260 a0001c0004t0022g0348 a0001c0004t0028g0131 a0005c0020t0001g0261	13	114	0.1140	-30	c.115 others(47): Show c.1157-312_1157-283delACACACACACACACACACACACACACAC AC		ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	7/25					INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGA4_chr2_181452386_181543940	181538126	CCACATTT others(23): Show CCACATTTCTTTATATTAAAATTCTAGTTTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG00621.hp1 NA19003.hp1 others(1): Show HG00609.hp2 HG00621.hp1 NA19003.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0026 a0002c0003t0018 a0002c0003t0026	a0002c0003t0018g0092 a0002c0003t0018g0146 a0002c0003t0018g0324 others(1): Show a0002c0003t0018g0092 a0002c0003t0018g0146 a0002c0003t0018g0324 a0002c0003t0026g0254	4	366	0.0109	-30	c.26 others(41): Show c.2600_*2629delCACATTTCTTTATATTAAAATTCTAGTTTG		ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding	28/28				2600		chr2	TogoVar
ITGA8_chr10_15508954_15724922	15561209	CTATATAT others(23): Show CTATATATATATATATATATATATATGTATA	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19012.hp1 HG02129.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0091 a0001c0001t0013g0019 a0001c0001t0002g0091 a0001c0001t0013g0019	2	134	0.0149	-30	c.263 others(49): Show c.2638-3037_2638-3008delTATACATATATATATATATATATATA TATA		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	25/29						chr10	TogoVar
ITGA8_chr10_15508954_15724922	15644433	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0005 a0011c0022t0005	a0011c0022t0005g0129 a0011c0022t0005g0129	1	64	0.0156	-30	c.120 others(47): Show c.1208-242_1208-213delATATATATATATATATATATATATATAT AT		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	12/29						chr10	TogoVar
ITGA8_chr10_15508954_15724922	15644463	TATATATA others(23): Show TATATATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18906.hp2 HG02970.hp2 NA18906.hp2	a0003 a0015 a0003 a0015	a0003c0003 a0015c0017 a0003c0003 a0015c0017	a0003c0003t0022 a0015c0017t0008 a0003c0003t0022 a0015c0017t0008	a0003c0003t0022g0041 a0015c0017t0008g0050 a0003c0003t0022g0041 a0015c0017t0008g0050	2	216	0.0093	-30	c.120 others(47): Show c.1208-272_1208-243delCTATATATATATATATATATATATATAT AT		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	12/29						chr10	TogoVar
ITGA9_chr3_37447141_37828507	37530717	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01169.hp1 others(27): Show HG00280.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG02258.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03516.hp1 HG06807.hp1 NA18970.hp1 NA18972.hp2 NA18989.hp2 NA19012.hp2 NA19043.hp2 NA19090.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0013 a0001c0014 a0001c0022 a0001c0030 a0002c0004 a0004c0009 a0004c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0021 a0001c0001t0022 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0014 a0001c0003t0020 a0001c0003t0030 a0001c0005t0004 a0001c0006t0003 a0001c0013t0009 a0001c0014t0002 a0001c0022t0009 a0001c0030t0016 a0002c0004t0001 a0002c0004t0005 a0004c0009t0003 a0004c0026t0029	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0003g0035 others(27): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0003g0035 a0001c0001t0005g0076 a0001c0001t0007g0045 a0001c0001t0007g0148 a0001c0001t0008g0046 a0001c0001t0021g0037 a0001c0001t0022g0163 a0001c0003t0003g0149 a0001c0003t0004g0161 a0001c0003t0005g0097 a0001c0003t0005g0098 a0001c0003t0008g0126 a0001c0003t0008g0146 a0001c0003t0008g0156 a0001c0003t0014g0157 a0001c0003t0020g0040 a0001c0003t0030g0155 a0001c0005t0004g0142 a0001c0006t0003g0132 a0001c0013t0009g0159 a0001c0013t0009g0160 a0001c0014t0002g0108 a0001c0022t0009g0114 a0001c0030t0016g0002 a0002c0004t0001g0110 a0002c0004t0005g0107 a0004c0009t0003g0103 a0004c0026t0029g0154	30	31	0.9677	-30	c.137 others(49): Show c.1374-2574_1374-2545delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	13/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAM_chr16_31254975_31337877	31256985	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG02809.hp2 others(3): Show HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02965.hp1 HG03098.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0004 a0001c0001t0004 a0001c0007t0004	a0001c0001t0004g0142 a0001c0007t0004g0143 a0001c0007t0004g0144 others(3): Show a0001c0001t0004g0142 a0001c0007t0004g0143 a0001c0007t0004g0144 a0001c0007t0004g0145 a0001c0007t0004g0146 a0001c0007t0004g0147	6	155	0.0387	-30	c.-30 others(41): Show c.-3079_-3050delATATATATATATATATATATATATATATAT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding					2989		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270137	GCTTTCCT others(23): Show GCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0112 a0002c0003t0003g0112	1	105	0.0095	-30	c.428 others(45): Show c.428-792_428-763delCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31270699	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18906.hp2 HG01891.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0139 a0001c0008t0004g0140 a0001c0008t0004g0139 a0001c0008t0004g0140	2	57	0.0351	-30	c.428 others(45): Show c.428-239_428-210delATATATATATATATATATATATATATATAT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31272443	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp2 HG02818.hp1 others(3): Show HG01109.hp2 HG02486.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp2 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0006 a0003c0004t0005 a0003c0004t0006	a0003c0004t0005g0088 a0003c0004t0005g0093 a0003c0004t0005g0096 others(3): Show a0003c0004t0005g0088 a0003c0004t0005g0093 a0003c0004t0005g0096 a0003c0004t0005g0097 a0003c0004t0005g0102 a0003c0004t0006g0099	6	225	0.0267	-30	c.704 others(45): Show c.704+453_704+482delATATATATATATATATATATTTTTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31272445	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02897.hp2 others(4): Show HG02572.hp2 HG02615.hp2 HG02897.hp2 HG03098.hp1 HG03453.hp1 HG03710.hp2 NA20752.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0029 a0003c0004t0005g0080 a0003c0004t0005g0090 others(4): Show a0003c0004t0005g0029 a0003c0004t0005g0080 a0003c0004t0005g0090 a0003c0004t0005g0095 a0003c0004t0005g0098 a0003c0004t0005g0101 a0003c0004t0005g0103	7	233	0.0300	-30	c.704 others(45): Show c.704+455_704+484delATATATATATATATATATTTTTTTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31272447	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp2 HG01255.hp2 HG02257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0030 a0003c0004t0005g0061 a0003c0004t0005g0030 a0003c0004t0005g0061	2	235	0.0085	-30	c.704 others(45): Show c.704+457_704+486delATATATATATATATATTTTTTTTTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGBL1_chr13_101447675_101721446	101544805	GCTGTGCT others(23): Show GCTGTGCTAGCAATGAGCAAGGCTCCATGGT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	304	0.0033	-30	c.317 others(49): Show c.317-22892_317-22863delTGTGCTAGCAATGAGCAAGGCTCCAT GGTC		ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7749412	ATAATTAA others(23): Show ATAATTAAAATGAACCAGATATCAGGGTGGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0283 a0001c0002t0003g0283	1	378	0.0026	-30	c.11 others(39): Show c.110_*139delAATTAAAATGAACCAGATATCAGGGTGGTT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	21/21				110	INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566790	AGAAGAAG others(23): Show AGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18993.hp1 NA19080.hp2 HG04204.hp2 NA18993.hp1 NA19080.hp2	a0003 a0004 a0003 a0004	a0003c0002 a0003c0005 a0004c0008 a0003c0002 a0003c0005 a0004c0008	a0003c0002t0010 a0003c0005t0005 a0004c0008t0010 a0003c0002t0010 a0003c0005t0005 a0004c0008t0010	a0003c0002t0010g0198 a0003c0005t0005g0115 a0004c0008t0010g0235 a0003c0002t0010g0198 a0003c0005t0005g0115 a0004c0008t0010g0235	3	329	0.0091	-30	c.215 others(47): Show c.2150-413_2150-384delCTCTTCCTCTTCCTCTTCCTCTTCTTCT TC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566826	GGAAGAGG others(23): Show GGAAGAGGAAGAGGAAGAGGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp2 HG03831.hp1 others(3): Show HG02886.hp2 HG03540.hp2 HG03831.hp1 NA18747.hp1 NA18943.hp2 NA18991.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0017 a0005c0013 others(1): Show a0001c0001 a0002c0017 a0005c0013 a0006c0010	a0001c0001t0001 a0002c0017t0008 a0005c0013t0004 others(1): Show a0001c0001t0001 a0002c0017t0008 a0005c0013t0004 a0006c0010t0009	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0241 others(3): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0241 a0002c0017t0008g0087 a0005c0013t0004g0113 a0006c0010t0009g0267	6	231	0.0260	-30	c.215 others(47): Show c.2150-449_2150-420delTTCTTCTTCTTCCTCTTCCTCTTCCTCT TC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566832	GGAAGAGG others(23): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00741.hp1 HG01074.hp1 others(12): Show HG00621.hp2 HG00741.hp1 HG01074.hp1 HG01109.hp1 HG01192.hp1 HG01496.hp2 HG02074.hp2 HG02145.hp2 HG02735.hp2 HG03139.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 NA18985.hp1 NA19068.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0061 others(4): Show a0001c0001 a0001c0006 a0001c0061 a0002c0003 a0002c0004 a0002c0009 a0003c0005	a0001c0001t0001 a0001c0006t0047 a0001c0061t0044 others(4): Show a0001c0001t0001 a0001c0006t0047 a0001c0061t0044 a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0003c0005t0002	a0001c0001t0001g0033 a0001c0001t0001g0090 a0001c0001t0001g0092 others(12): Show a0001c0001t0001g0033 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0220 a0001c0001t0001g0237 a0001c0006t0047g0329 a0001c0061t0044g0094 a0002c0003t0001g0305 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0159 a0002c0004t0001g0160 a0002c0004t0001g0270 a0002c0009t0001g0095 a0003c0005t0002g0293	15	178	0.0843	-30	c.215 others(47): Show c.2150-455_2150-426delTTCTTCTTCTTCTTCTTCCTCTTCCTCT TC		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13						chr10	TogoVar
ITPR2_chr12_26330352_26838194	26567978	TTATATAT others(23): Show TTATATATATATATATATATTATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0032 a0001c0020t0032	a0001c0020t0032g0069 a0001c0020t0032g0069	1	109	0.0092	-30	c.463 others(49): Show c.4631-6056_4631-6027delTAATATATATAATATATATATATATA TATA		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26784289	CCCTCTCC others(23): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02922.hp1 HG03209.hp1 HG01168.hp1 HG02922.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0001c0034 a0002c0010 a0001c0008 a0001c0034 a0002c0010	a0001c0008t0002 a0001c0034t0004 a0002c0010t0012 a0001c0008t0002 a0001c0034t0004 a0002c0010t0012	a0001c0008t0002g0039 a0001c0034t0004g0057 a0002c0010t0012g0026 a0001c0008t0002g0039 a0001c0034t0004g0057 a0002c0010t0012g0026	3	137	0.0219	-30	c.163 others(47): Show c.163+5838_163+5867delCAGAGGGAGAGGGAGAGGGAGAGGGAGA GG		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26831759	TATAAATA others(23): Show TATAAATATATATTCTACATAAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp1 others(18): Show HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01074.hp2 HG01106.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01981.hp1 HG02040.hp1 HG02132.hp2 HG02738.hp2 HG03239.hp2 NA18747.hp1 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA18980.hp2 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0013 a0001c0018 a0001c0019 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0001c0029 a0001c0058 a0001c0061 a0001c0062	a0001c0001t0010 a0001c0002t0046 a0001c0004t0010 others(17): Show a0001c0001t0010 a0001c0002t0046 a0001c0004t0010 a0001c0004t0011 a0001c0004t0048 a0001c0005t0031 a0001c0007t0021 a0001c0013t0022 a0001c0018t0047 a0001c0019t0011 a0001c0024t0010 a0001c0024t0021 a0001c0025t0051 a0001c0026t0020 a0001c0028t0010 a0001c0029t0011 a0001c0029t0049 a0001c0058t0050 a0001c0061t0045 a0001c0062t0020	a0001c0001t0010g0129 a0001c0002t0046g0125 a0001c0004t0010g0120 others(18): Show a0001c0001t0010g0129 a0001c0002t0046g0125 a0001c0004t0010g0120 a0001c0004t0011g0130 a0001c0004t0048g0117 a0001c0005t0031g0104 a0001c0007t0021g0119 a0001c0013t0022g0122 a0001c0013t0022g0131 a0001c0018t0047g0112 a0001c0019t0011g0121 a0001c0024t0010g0126 a0001c0024t0021g0124 a0001c0025t0051g0133 a0001c0026t0020g0115 a0001c0028t0010g0127 a0001c0029t0011g0132 a0001c0029t0049g0123 a0001c0058t0050g0118 a0001c0061t0045g0116 a0001c0062t0020g0128	21	140	0.1500	-30	c.92+ others(43): Show c.92+901_92+930delTTATATATTTTATGTAGAATATATATTTAT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56						chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31599637	CTTTCTTT others(23): Show CTTTCTTTCTTTTTCTTTCTTTCCTTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0017 a0017	a0017c0049 a0017c0049	a0017c0049t0011 a0017c0049t0011	a0017c0049t0011g0049 a0017c0049t0011g0049	1	257	0.0039	-30	c.122 others(51): Show c.1228+16447_1228+16476delTTTCTTTCTTTTTCTTTCTTTCCT TTCTCT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14						chr7	TogoVar
ITPRIP_chr10_104304700_104343465	104306046	TGTGTGTG others(23): Show TGTGTGTGTGCGCGCGCGCGCGCGCGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01243.hp2 HG00642.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0037 a0001c0001t0006 a0001c0001t0037	a0001c0001t0006g0029 a0001c0001t0037g0062 a0001c0001t0006g0029 a0001c0001t0037g0062	2	322	0.0062	-30	c.83 others(41): Show c.8332_*8361delGCGCACGCGCGCGCGCGCGCGCACACACAC		ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding					3653		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690785	ATATACAT others(23): Show ATATACATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02040.hp1 HG02258.hp2 others(3): Show HG01346.hp1 HG02040.hp1 HG02258.hp2 HG03490.hp1 HG03942.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0002 a0001c0002t0004 a0001c0002t0013 others(2): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0013 a0001c0003t0024 a0001c0011t0005	a0001c0001t0002g0017 a0001c0001t0002g0117 a0001c0002t0004g0082 others(3): Show a0001c0001t0002g0017 a0001c0001t0002g0117 a0001c0002t0004g0082 a0001c0002t0013g0064 a0001c0003t0024g0110 a0001c0011t0005g0016	6	240	0.0250	-30	c.-32 others(49): Show c.-32-28007_-32-27978delCATATATATATATATATATATATATG TATA		ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39					INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33876121	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00741.hp1 others(71): Show HG00323.hp1 HG00597.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01258.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18945.hp2 NA18973.hp2 NA18975.hp2 NA18986.hp2 NA18991.hp2 NA18998.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0020 a0001c0022 a0001c0027 a0001c0028 a0001c0029 a0002c0004 a0002c0023 a0002c0031 a0003c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(57): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0031 a0001c0001t0034 a0001c0001t0048 a0001c0001t0056 a0001c0001t0074 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0039 a0001c0002t0042 a0001c0002t0045 a0001c0002t0046 a0001c0002t0054 a0001c0002t0070 a0001c0003t0006 a0001c0003t0029 a0001c0003t0030 a0001c0005t0004 a0001c0006t0004 a0001c0006t0007 a0001c0006t0008 a0001c0006t0072 a0001c0007t0003 a0001c0007t0011 a0001c0007t0032 a0001c0009t0071 a0001c0010t0009 a0001c0020t0055 a0001c0022t0036 a0001c0027t0010 a0001c0028t0058 a0001c0029t0068 a0002c0004t0004 a0002c0004t0014 a0002c0004t0015 a0002c0004t0033 a0002c0004t0043 a0002c0004t0061 a0002c0004t0066 a0002c0004t0067 a0002c0023t0004 a0002c0031t0004 a0003c0008t0026 a0003c0008t0075	a0001c0001t0002g0117 a0001c0001t0003g0072 a0001c0001t0004g0074 others(71): Show a0001c0001t0002g0117 a0001c0001t0003g0072 a0001c0001t0004g0074 a0001c0001t0006g0198 a0001c0001t0010g0065 a0001c0001t0011g0196 a0001c0001t0012g0200 a0001c0001t0012g0228 a0001c0001t0012g0238 a0001c0001t0019g0028 a0001c0001t0019g0080 a0001c0001t0021g0079 a0001c0001t0021g0195 a0001c0001t0022g0066 a0001c0001t0028g0129 a0001c0001t0031g0213 a0001c0001t0034g0023 a0001c0001t0048g0234 a0001c0001t0056g0175 a0001c0001t0074g0063 a0001c0002t0001g0170 a0001c0002t0006g0162 a0001c0002t0007g0057 a0001c0002t0007g0163 a0001c0002t0007g0169 a0001c0002t0008g0075 a0001c0002t0008g0076 a0001c0002t0008g0166 a0001c0002t0010g0199 a0001c0002t0010g0237 a0001c0002t0013g0064 a0001c0002t0015g0081 a0001c0002t0016g0061 a0001c0002t0039g0239 a0001c0002t0042g0060 a0001c0002t0045g0073 a0001c0002t0046g0132 a0001c0002t0054g0164 a0001c0002t0070g0193 a0001c0003t0006g0006 a0001c0003t0029g0010 a0001c0003t0030g0208 a0001c0005t0004g0043 a0001c0006t0004g0068 a0001c0006t0007g0178 a0001c0006t0008g0161 a0001c0006t0072g0069 a0001c0007t0003g0024 a0001c0007t0011g0176 a0001c0007t0032g0227 a0001c0009t0071g0226 a0001c0010t0009g0058 a0001c0010t0009g0143 a0001c0020t0055g0062 a0001c0022t0036g0077 a0001c0027t0010g0240 a0001c0028t0058g0153 a0001c0029t0068g0152 a0002c0004t0004g0025 a0002c0004t0004g0045 a0002c0004t0004g0095 a0002c0004t0014g0107 a0002c0004t0014g0108 a0002c0004t0015g0232 a0002c0004t0033g0197 a0002c0004t0043g0147 a0002c0004t0061g0101 a0002c0004t0066g0217 a0002c0004t0067g0168 a0002c0023t0004g0214 a0002c0031t0004g0180 a0003c0008t0026g0034 a0003c0008t0026g0035 a0003c0008t0075g0033	74	239	0.3096	-30	c.434 others(47): Show c.4341+602_4341+631delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT		ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39					INFO_REALIGN_3_PRIME	chr21	TogoVar
IVL_chr1_152903546_152916886	152910295	AGAGCAGC others(23): Show AGAGCAGCAGGAGGGACAGCTGAAGCACCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG01257.hp1 HG00140.hp1 HG01257.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0001 a0012c0015t0001g0001	2	424	0.0047	-30	c.513 others(37): Show c.513_542delACAGCTGAAGCACCCGGAGCAGCAGGAGGG	p.Gln others(13): Show p.Gln172_Gly181del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	576/2152	513/1758	171/585		INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910325	GGAGCAGC others(23): Show GGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01928.hp1 HG01934.hp1 HG01978.hp1 others(5): Show HG01928.hp1 HG01934.hp1 HG01978.hp1 HG03017.hp1 HG03654.hp1 HG03704.hp1 NA18955.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	367	0.0218	-30	c.679 others(37): Show c.679_708delGAGCAGCAGGAGGGGCAGCTGGAGCTCCCA	p.Glu others(13): Show p.Glu227_Pro236del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	742/2152	679/1758	227/585		INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910476	GAGCAGCA others(23): Show GAGCAGCAGGAGGGGCAGCTGGAGCTCCCAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02970.hp1 HG03041.hp1 HG03139.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0002 a0005c0005t0002 a0002c0002t0002 a0005c0005t0002	a0002c0002t0002g0006 a0005c0005t0002g0003 a0002c0002t0002g0006 a0005c0005t0002g0003	3	353	0.0085	-30	c.706 others(37): Show c.706_735delCCACAGCAGCAGGAGGGGCAGCTGGAGCTC	p.Pro others(13): Show p.Pro236_Leu245del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	769/2152	706/1758	236/585		INFO_REALIGN_3_PRIME	chr1	TogoVar
IVL_chr1_152903546_152916886	152910506	CAGCAGCA others(23): Show CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	149	0.0067	-30	c.753 others(37): Show c.753_782delGCAGCTGGAGCTCTCTGAGCAGCAGGAGGG	p.Gln others(13): Show p.Gln252_Gly261del	IVL	ENSG00000163207.7	transcript	ENST00000368764.4	protein_coding	2/2	816/2152	753/1758	251/585		INFO_REALIGN_3_PRIME	chr1	TogoVar
JAK1_chr1_64828229_64971549	64878561	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG00639.hp2 others(114): Show HG00323.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01168.hp1 HG01192.hp2 HG01261.hp1 HG01361.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18957.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19074.hp2 NA19077.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 a0001c0006t0003 a0001c0007t0001 a0001c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0029 others(112): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0252 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0322 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0126 a0001c0001t0002g0170 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0003g0121 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0213 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0009g0225 a0001c0001t0010g0109 a0001c0001t0011g0160 a0001c0001t0013g0253 a0001c0001t0014g0265 a0001c0002t0002g0159 a0001c0006t0003g0001 a0001c0006t0003g0016 a0001c0006t0003g0017 a0001c0006t0003g0056 a0001c0006t0003g0162 a0001c0006t0003g0211 a0001c0007t0001g0099 a0001c0007t0001g0263 a0001c0009t0001g0072	117	165	0.7091	-30	c.329 others(45): Show c.329+434_329+463delTATATATATATATATATATATATATATATA		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	4/24						chr1	TogoVar
JAK1_chr1_64828229_64971549	64897525	GGAGGGAG others(23): Show GGAGGGAGGAGGAGGAGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02818.hp2 others(9): Show HG01891.hp2 HG02572.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03209.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0186 a0001c0001t0002g0101 a0001c0001t0002g0187 others(9): Show a0001c0001t0001g0186 a0001c0001t0002g0101 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0003t0001g0022 a0001c0003t0001g0188	12	118	0.1017	-30	c.-77 others(49): Show c.-77-11214_-77-11185delTCCTCCTCCTCCTCCTCCTCCTCCTC CCTC		JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24						chr1	TogoVar
JAKMIP1_chr4_6021199_6205549	6068879	TTTTATAA others(23): Show TTTTATAACATTTTATAACACTGGGTTAGTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	232	0.0043	-30	c.130 others(49): Show c.1303-3901_1303-3872delCACTAACCCAGTGTTATAAAATGTTA TAAA		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20						chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6098709	AAAGAAAG others(23): Show AAAGAAAGAAAGAAAAAGAAAGAAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG02109.hp1 others(1): Show HG01192.hp2 HG01255.hp2 HG02109.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0141 a0001c0001t0002g0225 a0001c0002t0001g0057 others(1): Show a0001c0001t0001g0141 a0001c0001t0002g0225 a0001c0002t0001g0057 a0001c0002t0001g0144	4	232	0.0172	-30	c.624 others(47): Show c.624+6734_624+6763delCTTCTCTTTCTTTCTTTTTCTTTCTTTC TT		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20						chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147690539	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03579.hp1 NA18962.hp1 others(1): Show HG02145.hp1 HG03579.hp1 NA18962.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0013 a0001c0002t0058 others(1): Show a0001c0001t0002 a0001c0001t0013 a0001c0002t0058 a0001c0003t0071	a0001c0001t0002g0013 a0001c0001t0013g0179 a0001c0002t0058g0090 others(1): Show a0001c0001t0002g0013 a0001c0001t0013g0179 a0001c0002t0058g0090 a0001c0003t0071g0186	4	11	0.3636	-30	c.-14 others(51): Show c.-148-18615_-148-18586delTATATATATATATATATATATATA TATATA		JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21						chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132158910	TGTGGGAG others(23): Show TGTGGGAGGGGCATCTTCCTTTGTGATGCTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03540.hp1 NA19240.hp2 HG01884.hp1 HG03540.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0006 a0002c0016t0006 a0001c0001t0006 a0002c0016t0006	a0001c0001t0006g0006 a0002c0016t0006g0052 a0002c0016t0006g0099 a0001c0001t0006g0006 a0002c0016t0006g0052 a0002c0016t0006g0099	3	156	0.0192	-30	c.222 others(49): Show c.2221-4297_2221-4268delTGGGAGGGGCATCTTCCTTTGTGATG CTGG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180638	CGTGTGTG others(23): Show CGTGTGTGCGTGTGCGTGTGCGTGTGTGCGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0083 a0001c0006t0003g0083	1	87	0.0115	-30	c.11 others(51): Show c.1104-1709_*1104-1680delTGTGCGTGTGCGTGTGTGCGTGTG TGTGCG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132187339	CGGCCCTG others(23): Show CGGCCCTGCCCGGCCCTGCCGGGCCCTGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01175.hp1 others(4): Show HG00280.hp1 HG01167.hp1 HG01175.hp1 HG01346.hp1 HG03492.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0002c0008 others(1): Show a0001c0001 a0002c0004 a0002c0008 a0004c0007	a0001c0001t0004 a0001c0001t0036 a0002c0004t0004 others(2): Show a0001c0001t0004 a0001c0001t0036 a0002c0004t0004 a0002c0008t0004 a0004c0007t0004	a0001c0001t0004g0128 a0001c0001t0036g0014 a0002c0004t0004g0042 others(4): Show a0001c0001t0004g0128 a0001c0001t0036g0014 a0002c0004t0004g0042 a0002c0004t0004g0051 a0002c0004t0004g0142 a0002c0008t0004g0129 a0004c0007t0004g0092	7	156	0.0449	-30	c.60 others(41): Show c.6087_*6116delGGCCCTGCCCGGCCCTGCCGGGCCCTGCCG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding					2482		chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132187354	CTGCCGGG others(23): Show CTGCCGGGCCCTGCCGGGCCCTGCCCGGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03471.hp2 HG02965.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0048 a0004c0014 a0001c0048 a0004c0014	a0001c0048t0012 a0004c0014t0012 a0001c0048t0012 a0004c0014t0012	a0001c0048t0012g0100 a0004c0014t0012g0149 a0001c0048t0012g0100 a0004c0014t0012g0149	2	156	0.0128	-30	c.61 others(41): Show c.6102_*6131delTGCCGGGCCCTGCCGGGCCCTGCCCGGCCT		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding					2497		chr10	TogoVar
JARID2_chr6_15241069_15527042	15404519	GCACACAC others(23): Show GCACACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	13	0.0769	-30	c.182 others(47): Show c.182-5680_182-5651delCACACACACACACACACACACACACACA CA		JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	28170337	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01256.hp1 HG02027.hp2 others(12): Show HG00558.hp2 HG01256.hp1 HG02027.hp2 HG02040.hp2 HG03942.hp2 NA18747.hp2 NA18948.hp1 NA18957.hp1 NA18959.hp2 NA18965.hp2 NA18994.hp2 NA19004.hp2 NA19057.hp1 NA19058.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(12): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0202	15	93	0.1613	-30	c.115 others(49): Show c.115+10096_115+10125delCACACACACACACACACACACACACA CACA		JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4						chr7	TogoVar
JMJD1C_chr10_63162225_63470977	63337550	CAAGAAAA others(23): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03669.hp1 HG04184.hp1 others(7): Show HG02074.hp2 HG03669.hp1 HG04184.hp1 NA18747.hp1 NA18952.hp1 NA18953.hp1 NA18973.hp1 NA18978.hp2 NA18988.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0052 others(7): Show a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0101	10	242	0.0413	-30	c.333 others(49): Show c.333+42738_333+42767delTTCTTTTCTTTTCTTTTCTTTTCTTT TCTT		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25						chr10	TogoVar
KALRN_chr3_124028369_124731325	124110315	GTCATACT others(23): Show GTCATACTTTGATATATATATGACATATATA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp2 HG01517.hp1 others(1): Show HG01515.hp1 HG01515.hp2 HG01517.hp1 NA18612.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0001c0037 a0004c0013 a0001c0004 a0001c0037 a0004c0013	a0001c0004t0030 a0001c0037t0005 a0004c0013t0002 a0001c0004t0030 a0001c0037t0005 a0004c0013t0002	a0001c0004t0030g0051 a0001c0037t0005g0058 a0004c0013t0002g0001 others(1): Show a0001c0004t0030g0051 a0001c0037t0005g0058 a0004c0013t0002g0001 a0004c0013t0002g0002	4	103	0.0388	-30	c.73+ others(47): Show c.73+76552_73+76581delTGACATATATATCATACTTTGATATATA TA		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124287770	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02165.hp2 NA18906.hp1 HG02071.hp1 HG02165.hp2 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0063 a0001c0006 a0001c0008 a0001c0063	a0001c0006t0001 a0001c0008t0002 a0001c0063t0003 a0001c0006t0001 a0001c0008t0002 a0001c0063t0003	a0001c0006t0001g0068 a0001c0008t0002g0070 a0001c0063t0003g0088 a0001c0006t0001g0068 a0001c0008t0002g0070 a0001c0063t0003g0088	3	9	0.3333	-30	c.970 others(49): Show c.970-10994_970-10965delATATATATATATATATATATATATAT ATAT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124495955	GTGTATGT others(23): Show GTGTATGTATGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0009 a0001c0047t0009	a0001c0047t0009g0092 a0001c0047t0009g0092	1	106	0.0094	-30	c.483 others(47): Show c.4833-354_4833-325delGTATGTATGTATATATATATATATATAT AT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	32/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02809.hp1 others(2): Show HG02615.hp1 HG02630.hp1 HG02809.hp1 NA18992.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0014 a0001c0001t0005g0226 a0001c0001t0005g0227 others(2): Show a0001c0001t0003g0014 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0230	5	102	0.0490	-30	c.175 others(49): Show c.1755+5733_1755+5762delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14						chr2	TogoVar
KANSL1L_chr2_210016421_210176409	210079640	ATATATAT others(23): Show ATATATATATATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0007 a0001c0001t0008g0007	1	270	0.0037	-30	c.155 others(49): Show c.1551-3914_1551-3885delCATACATATATATATATATATATATA TATA		KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	5/14						chr2	TogoVar

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