Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NGF_chr1_115280917_115343249	115333682	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0150 a0001c0001t0001g0155	2	418	0.0048	-15	c.-13 others(34): Show c.-137+4507_-137+4521delGAAAGAAAGAAAGAA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01928.hp1 HG02523.hp2 others(1): Show HG01358.hp1 HG01928.hp1 HG02523.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0054 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0091	4	264	0.0152	-15	c.492 others(32): Show c.492+3191_492+3205delTTTTTTTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NGLY1_chr3_25713944_25788443	25778925	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01934.hp2 others(14): Show HG00639.hp2 HG01109.hp1 HG01934.hp2 HG02258.hp1 HG02280.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0229 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018	17	264	0.0644	-15	c.132 others(30): Show c.132-252_132-238delAAAAAAAAAAAAAAA	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	1/11			chr3	TogoVar
NHERF4_chr11_119180475_119195213	119185323	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0005 a0007c0007t0005	a0007c0007t0005g0001 a0007c0007t0005g0001	1	422	0.0024	-15	c.-17 others(24): Show c.-171_-157delAAAAAAAAAAAAAAA	NHERF4	ENSG00000172367.16	transcript	ENST00000355547.10	protein_coding		151		chr11	TogoVar
NHLH2_chr1_115831377_115846126	115845721	GAAACAGA others(8): Show GAAACAGAGGTAGATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	438	0.0023	-15	c.-51 others(26): Show c.-5126_-5112delAATCTACCTCTGTTT	NHLH2	ENSG00000177551.5	transcript	ENST00000320238.3	protein_coding		4596		chr1	TogoVar
NHLRC2_chr10_113849661_113922194	113891612	GCCTAGAT others(8): Show GCCTAGATTAGCTGGA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0024 a0011c0012t0024	a0011c0012t0024g0042 a0011c0012t0024g0042	1	358	0.0028	-15	c.104 others(34): Show c.1040-6497_1040-6483delCCTAGATTAGCTGGA	NHLRC2	ENSG00000196865.4	transcript	ENST00000369301.3	protein_coding	5/10			chr10	TogoVar
NHSL1_chr6_138417043_138504494	138437445	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0016 a0001c0010t0016	a0001c0010t0016g0237 a0001c0010t0016g0237	1	332	0.0030	-15	c.665 others(32): Show c.665-3780_665-3766delTTTTTTTTTTTTTTT	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	5/7			chr6	TogoVar
NHSL2_chrX_71905845_72158286	71980560	GGTGTGTG others(8): Show GGTGTGTGGGGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02109.hp1 others(15): Show HG01167.hp1 HG01169.hp1 HG02109.hp1 HG02280.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03453.hp2 HG03540.hp2 HG06807.hp2 NA18955.hp1 NA18995.hp1 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0005 a0011c0017	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0039 a0001c0003t0011 a0001c0003t0012 a0001c0003t0035 a0001c0003t0036 a0002c0002t0002 a0005c0005t0001 a0011c0017t0053	a0001c0001t0001g0053 a0001c0001t0005g0096 a0001c0001t0015g0049 others(15): Show a0001c0001t0001g0053 a0001c0001t0005g0096 a0001c0001t0015g0049 a0001c0001t0019g0160 a0001c0001t0019g0161 a0001c0001t0022g0052 a0001c0001t0039g0151 a0001c0003t0011g0155 a0001c0003t0011g0156 a0001c0003t0012g0057 a0001c0003t0012g0058 a0001c0003t0035g0133 a0001c0003t0036g0054 a0002c0002t0002g0056 a0002c0002t0002g0157 a0005c0005t0001g0087 a0005c0005t0001g0088 a0011c0017t0053g0059	18	187	0.0963	-15	c.280 others(34): Show c.280+69201_280+69215delGGGTGTGTGTGTGTG	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	72039067	TTTTCCTT others(8): Show TTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02055.hp1 HG02257.hp2 others(8): Show HG00673.hp1 HG02055.hp1 HG02257.hp2 HG02615.hp1 HG02735.hp1 HG03209.hp1 HG03688.hp1 HG03834.hp2 HG06807.hp1 NA18522.hp1 NA18971.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0001c0003 a0001c0015 others(4): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0003c0004 a0007c0007 a0009c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0045 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0045 a0001c0001t0056 a0001c0003t0070 a0001c0015t0032 a0002c0002t0002 a0003c0004t0008 a0007c0007t0013 a0009c0018t0001	a0001c0001t0001g0072 a0001c0001t0001g0138 a0001c0001t0004g0066 others(8): Show a0001c0001t0001g0072 a0001c0001t0001g0138 a0001c0001t0004g0066 a0001c0001t0045g0174 a0001c0001t0056g0092 a0001c0003t0070g0027 a0001c0015t0032g0031 a0002c0002t0002g0118 a0003c0004t0008g0085 a0007c0007t0013g0090 a0009c0018t0001g0147	11	187	0.0588	-15	c.281 others(34): Show c.281-92944_281-92930delTCCTTTCCTTTCCTT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17425522	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19070.hp1 HG02257.hp2 NA19070.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0011 a0002c0002 a0008c0011	a0002c0002t0001 a0008c0011t0002 a0002c0002t0001 a0008c0011t0002	a0002c0002t0001g0007 a0008c0011t0002g0147 a0002c0002t0001g0007 a0008c0011t0002g0147	2	164	0.0122	-15	c.565 others(34): Show c.565+49235_565+49249delAAAAAAAAAAAAAAA	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127523191	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0162 a0001c0001t0012g0162	1	332	0.0030	-15	c.589 others(30): Show c.589+473_589+487delATATATATATATATT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523193	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18964.hp1 NA18979.hp1 others(3): Show HG02165.hp2 NA18964.hp1 NA18979.hp1 NA19002.hp1 NA19002.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0035	a0001c0001t0001g0290 a0001c0001t0002g0207 a0001c0001t0002g0255 others(3): Show a0001c0001t0001g0290 a0001c0001t0002g0207 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0006g0024 a0001c0001t0035g0329	6	332	0.0181	-15	c.589 others(30): Show c.589+471_589+485delATATATATATATATA	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIBAN3_chr19_17522267_17558640	17530531	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01071.hp1 others(23): Show HG00140.hp2 HG00738.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp2 HG02257.hp2 HG02622.hp1 HG02723.hp2 HG03130.hp2 HG03225.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG04228.hp1 NA18951.hp1 NA18952.hp2 NA18963.hp2 NA18989.hp2 NA18991.hp1 NA19009.hp2 NA19054.hp2 NA19065.hp1 NA19085.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0017 a0002c0016 a0005c0006 a0001c0017 a0002c0016 a0005c0006	a0001c0017t0042 a0002c0016t0003 a0005c0006t0006 others(2): Show a0001c0017t0042 a0002c0016t0003 a0005c0006t0006 a0005c0006t0016 a0005c0006t0043	a0001c0017t0042g0166 a0002c0016t0003g0143 a0005c0006t0006g0020 others(20): Show a0001c0017t0042g0166 a0002c0016t0003g0143 a0005c0006t0006g0020 a0005c0006t0006g0021 a0005c0006t0006g0022 a0005c0006t0006g0023 a0005c0006t0006g0037 a0005c0006t0006g0038 a0005c0006t0006g0144 a0005c0006t0006g0156 a0005c0006t0006g0157 a0005c0006t0006g0158 a0005c0006t0006g0159 a0005c0006t0006g0160 a0005c0006t0006g0161 a0005c0006t0006g0162 a0005c0006t0006g0164 a0005c0006t0006g0165 a0005c0006t0006g0308 a0005c0006t0006g0309 a0005c0006t0006g0310 a0005c0006t0016g0023 a0005c0006t0043g0163	26	404	0.0644	-15	c.56- others(28): Show c.56-212_56-198delAAAAAAAAAAAAAAA	NIBAN3	ENSG00000167483.19	transcript	ENST00000599164.6	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NIBAN3_chr19_17522267_17558640	17541644	CTTATTTT others(8): Show CTTATTTTATTTTATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18960.hp1 NA18967.hp1 NA18975.hp2 NA18977.hp2 NA18995.hp1 NA19005.hp1 NA19009.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19085.hp2 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0011 a0012	a0001c0001 a0001c0017 a0002c0002 others(7): Show a0001c0001 a0001c0017 a0002c0002 a0002c0007 a0002c0016 a0004c0003 a0005c0006 a0005c0011 a0011c0015 a0012c0028	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0017t0042 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0024 a0002c0002t0035 a0002c0002t0055 a0002c0007t0012 a0002c0007t0018 a0002c0016t0003 a0004c0003t0015 a0005c0006t0006 a0005c0006t0043 a0005c0011t0006 a0005c0011t0044 a0011c0015t0008 a0012c0028t0025	a0001c0001t0001g0341 a0001c0001t0004g0327 a0001c0001t0007g0010 others(108): Show a0001c0001t0001g0341 a0001c0001t0004g0327 a0001c0001t0007g0010 a0001c0001t0007g0095 a0001c0001t0007g0175 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0001t0007g0206 a0001c0001t0007g0210 a0001c0001t0007g0238 a0001c0001t0007g0241 a0001c0001t0007g0242 a0001c0001t0007g0244 a0001c0001t0007g0266 a0001c0001t0007g0270 a0001c0001t0007g0278 a0001c0001t0007g0279 a0001c0001t0007g0282 a0001c0001t0007g0333 a0001c0001t0010g0148 a0001c0001t0010g0180 a0001c0001t0010g0181 a0001c0001t0010g0209 a0001c0001t0010g0217 a0001c0001t0010g0259 a0001c0001t0010g0262 a0001c0001t0010g0302 a0001c0001t0010g0344 a0001c0001t0011g0140 a0001c0001t0011g0237 a0001c0001t0011g0293 a0001c0001t0011g0294 a0001c0001t0011g0296 a0001c0001t0011g0297 a0001c0001t0013g0034 a0001c0001t0013g0136 a0001c0001t0013g0245 a0001c0001t0013g0348 a0001c0001t0014g0100 a0001c0001t0014g0102 a0001c0001t0014g0221 a0001c0001t0025g0285 a0001c0001t0033g0284 a0001c0001t0034g0267 a0001c0017t0042g0166 a0002c0002t0002g0040 a0002c0002t0002g0098 a0002c0002t0002g0116 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0334 a0002c0002t0002g0340 a0002c0002t0003g0005 a0002c0002t0003g0009 a0002c0002t0003g0026 a0002c0002t0003g0029 a0002c0002t0003g0041 a0002c0002t0003g0061 a0002c0002t0003g0082 a0002c0002t0003g0111 a0002c0002t0003g0145 a0002c0002t0003g0179 a0002c0002t0003g0183 a0002c0002t0003g0193 a0002c0002t0003g0195 a0002c0002t0003g0198 a0002c0002t0003g0199 a0002c0002t0003g0205 a0002c0002t0003g0207 a0002c0002t0003g0214 a0002c0002t0003g0215 a0002c0002t0003g0216 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0220 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0246 a0002c0002t0003g0280 a0002c0002t0003g0286 a0002c0002t0003g0312 a0002c0002t0003g0335 a0002c0002t0008g0274 a0002c0002t0024g0026 a0002c0002t0024g0178 a0002c0002t0035g0305 a0002c0002t0055g0047 a0002c0007t0012g0008 a0002c0007t0012g0186 a0002c0007t0012g0187 a0002c0007t0018g0035 a0002c0007t0018g0311 a0002c0016t0003g0143 a0004c0003t0015g0120 a0005c0006t0006g0020 a0005c0006t0006g0021 a0005c0006t0006g0022 a0005c0006t0006g0037 a0005c0006t0006g0038 a0005c0006t0006g0144 a0005c0006t0006g0157 a0005c0006t0006g0158 a0005c0006t0006g0164 a0005c0006t0006g0165 a0005c0006t0006g0308 a0005c0006t0006g0310 a0005c0006t0043g0163 a0005c0011t0006g0101 a0005c0011t0044g0292 a0011c0015t0008g0243 a0012c0028t0025g0281	126	404	0.3119	-15	c.117 others(32): Show c.1171-444_1171-430delATTTTATTTTATTTT	NIBAN3	ENSG00000167483.19	transcript	ENST00000599164.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NIBAN3_chr19_17522267_17558640	17545161	ATTTATTT others(8): Show ATTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02717.hp2 HG02886.hp2 others(7): Show HG00544.hp1 HG02717.hp2 HG02886.hp2 HG03579.hp1 HG03710.hp1 NA18969.hp1 NA18973.hp1 NA19000.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0015 a0018	a0001c0001 a0002c0002 a0004c0003 others(2): Show a0001c0001 a0002c0002 a0004c0003 a0015c0023 a0018c0022	a0001c0001t0004 a0001c0001t0026 a0001c0001t0047 others(4): Show a0001c0001t0004 a0001c0001t0026 a0001c0001t0047 a0002c0002t0003 a0004c0003t0002 a0015c0023t0004 a0018c0022t0049	a0001c0001t0004g0322 a0001c0001t0004g0327 a0001c0001t0004g0339 others(7): Show a0001c0001t0004g0322 a0001c0001t0004g0327 a0001c0001t0004g0339 a0001c0001t0026g0347 a0001c0001t0026g0349 a0001c0001t0047g0317 a0002c0002t0003g0286 a0004c0003t0002g0133 a0015c0023t0004g0321 a0018c0022t0049g0287	10	404	0.0248	-15	c.155 others(34): Show c.1555-1481_1555-1467delATTTTATTTTATTTT	NIBAN3	ENSG00000167483.19	transcript	ENST00000599164.6	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NID1_chr1_235970830_236070090	235987734	CAGGGAAG others(8): Show CAGGGAAGGTCTCAGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02647.hp2 HG01109.hp2 HG01952.hp1 HG02647.hp2	a0004 a0007 a0004 a0007	a0004c0005 a0007c0029 a0004c0005 a0007c0029	a0004c0005t0004 a0007c0029t0004 a0004c0005t0004 a0007c0029t0004	a0004c0005t0004g0026 a0004c0005t0004g0071 a0007c0029t0004g0063 a0004c0005t0004g0026 a0004c0005t0004g0071 a0007c0029t0004g0063	3	334	0.0090	-15	c.292 others(34): Show c.2929-2244_2929-2230delCCTGAGACCTTCCCT	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	14/19			chr1	TogoVar
NID1_chr1_235970830_236070090	236051264	CCCCTCCC others(8): Show CCCCTCCCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0251 a0002c0008t0001g0251	1	334	0.0030	-15	c.226 others(32): Show c.226-2290_226-2276delAGGGGAGGGGGAGGG	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	1/19			chr1	TogoVar
NID2_chr14_51999809_52074059	52030501	GAGAAAGA others(8): Show GAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0158 a0002c0004t0001g0158	1	372	0.0027	-15	c.225 others(32): Show c.2258-826_2258-812delTCTTTCTTTCTTTCT	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NIM1K_chr5_43187225_43285850	43198164	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	292	0.0034	-15	c.-69 others(34): Show c.-695+5756_-695+5770delCTTTCTTTCTTTCTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198180	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	292	0.0034	-15	c.-69 others(34): Show c.-695+5772_-695+5786delCTTTCTTTCTTTCTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43213198	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02630.hp2 HG03139.hp2 others(3): Show HG01192.hp1 HG02630.hp2 HG03139.hp2 HG03540.hp2 HG03927.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0004 a0001c0001t0003 a0001c0005t0004	a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0129 others(3): Show a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0005t0004g0125	6	292	0.0206	-15	c.-69 others(36): Show c.-695+20790_-695+20804delCTTTCTTTCTTTCTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43213280	GTTTCCTT others(8): Show GTTTCCTTTCCTTTTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp1 HG01433.hp1 HG00099.hp2 HG01243.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0002g0259 a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0002g0259	3	292	0.0103	-15	c.-69 others(36): Show c.-695+20873_-695+20887delCCTTTCCTTTTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43213284	CCTTTCCT others(8): Show CCTTTCCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(47): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG01071.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02683.hp2 HG02738.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG04228.hp2 NA18612.hp1 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18975.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19065.hp2 NA19088.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0002	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0082 others(47): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0108 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0002g0253 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0004g0198 a0001c0001t0010g0136 a0001c0002t0001g0021 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0002g0270 a0001c0002t0002g0273 a0001c0002t0002g0275 a0001c0002t0007g0017 a0001c0002t0007g0033 a0001c0003t0002g0274 a0001c0003t0002g0276 a0001c0003t0002g0282 a0001c0003t0002g0285 a0001c0003t0002g0287	50	292	0.1712	-15	c.-69 others(36): Show c.-695+20878_-695+20892delCCTTTTCTTTTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ2_chr12_559296_668445	658646	TTATGCTA others(8): Show TTATGCTATGCTATGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(159): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0003c0005 a0005c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0007t0002 a0003c0005t0001 a0005c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(158): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0361 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0402 a0001c0001t0001g0403 a0001c0001t0002g0007 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0077 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0126 a0001c0001t0002g0145 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0173 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0353 a0001c0001t0002g0360 a0001c0001t0002g0366 a0001c0001t0002g0374 a0001c0001t0002g0385 a0001c0003t0002g0212 a0001c0007t0002g0178 a0003c0005t0001g0199 a0005c0002t0001g0163	162	404	0.4010	-15	c.33+ others(30): Show c.33+4667_33+4681delGCATAGCATAGCATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINL_chr20_25447697_25590531	25460889	ACACTGGG others(8): Show ACACTGGGCACTCGCC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02486.hp2 HG02818.hp2 others(4): Show HG00741.hp1 HG02486.hp2 HG02818.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp1 HG03579.hp2	a0002 a0002	a0002c0008 a0002c0022 a0002c0008 a0002c0022	a0002c0008t0002 a0002c0022t0002 a0002c0008t0002 a0002c0022t0002	a0002c0008t0002g0194 a0002c0008t0002g0195 a0002c0008t0002g0196 others(4): Show a0002c0008t0002g0194 a0002c0008t0002g0195 a0002c0008t0002g0196 a0002c0008t0002g0197 a0002c0008t0002g0198 a0002c0008t0002g0200 a0002c0022t0002g0199	7	310	0.0226	-15	c.369 others(32): Show c.3696+618_3696+632delGGCGAGTGCCCAGTG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	21/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25542697	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00673.hp2 others(30): Show HG00099.hp2 HG00609.hp2 HG00673.hp2 HG01123.hp2 HG01255.hp2 HG01891.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG03209.hp1 NA18942.hp1 NA18944.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18968.hp2 NA18971.hp1 NA18980.hp1 NA18984.hp1 NA18993.hp1 NA18999.hp2 NA19067.hp2 NA19082.hp2 NA19083.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0002c0008 a0003c0003 others(2): Show a0001c0001 a0002c0008 a0003c0003 a0006c0009 a0009c0019	a0001c0001t0001 a0001c0001t0003 a0002c0008t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0008t0002 a0003c0003t0004 a0006c0009t0001 a0009c0019t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(30): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0298 a0002c0008t0002g0197 a0003c0003t0004g0022 a0003c0003t0004g0036 a0003c0003t0004g0040 a0006c0009t0001g0128 a0009c0019t0001g0138 a0009c0019t0001g0140	33	310	0.1065	-15	c.-11 others(34): Show c.-11-16114_-11-16100delTTTTTTTTTTTTTTT	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NIN_chr14_50714763_50836162	50755648	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0222 a0003c0003t0001g0222	1	292	0.0034	-15	c.453 others(32): Show c.4539-796_4539-782delAAAAAAAAAAAAAAA	NIN	ENSG00000100503.27	transcript	ENST00000530997.7	protein_coding	18/30			chr14	TogoVar
NIN_chr14_50714763_50836162	50755664	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0203 a0001c0002t0002g0203	1	292	0.0034	-15	c.453 others(32): Show c.4539-812_4539-798delTAAAAAAAAAAAAAA	NIN	ENSG00000100503.27	transcript	ENST00000530997.7	protein_coding	18/30			chr14	TogoVar
NIN_chr14_50714763_50836162	50763710	ATTCTTTT others(8): Show ATTCTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp2 HG01943.hp1 HG01943.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0004c0004 a0001c0006 a0004c0004	a0001c0006t0003 a0004c0004t0001 a0001c0006t0003 a0004c0004t0001	a0001c0006t0003g0162 a0004c0004t0001g0224 a0001c0006t0003g0162 a0004c0004t0001g0224	2	292	0.0069	-15	c.177 others(32): Show c.1774+101_1774+115delAAAAAAAAAAAAGAA	NIN	ENSG00000100503.27	transcript	ENST00000530997.7	protein_coding	15/30			chr14	TogoVar
NIP7_chr16_69334772_69348106	69343359	CGACTAAG others(8): Show CGACTAAGCCCCAGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	400	0.0025	-15	c.17 others(26): Show c.1708_*1722delGACTAAGCCCCAGAA	NIP7	ENSG00000132603.15	transcript	ENST00000254940.10	protein_coding		254		chr16	TogoVar
NIPAL3_chr1_24410802_24477976	24414531	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0178 a0001c0001t0077g0178	1	380	0.0026	-15	c.-16 others(26): Show c.-1630_-1616delTTTTTTTTTTTTTTT	NIPAL3	ENSG00000001461.17	transcript	ENST00000374399.9	protein_coding		1270		chr1	TogoVar
NIPBL_chr5_36871769_37071413	36889927	TACATGCT others(8): Show TACATGCTGTTTGGGA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02615.hp1 others(3): Show HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02895.hp2 HG02970.hp2 HG03209.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0006 a0007c0014 a0008c0018 a0001c0006 a0007c0014 a0008c0018	a0001c0006t0001 a0001c0006t0002 a0007c0014t0002 others(1): Show a0001c0006t0001 a0001c0006t0002 a0007c0014t0002 a0008c0018t0001	a0001c0006t0001g0320 a0001c0006t0002g0316 a0001c0006t0002g0318 others(3): Show a0001c0006t0001g0320 a0001c0006t0002g0316 a0001c0006t0002g0318 a0001c0006t0002g0321 a0007c0014t0002g0319 a0008c0018t0001g0317	6	328	0.0183	-15	c.-80 others(34): Show c.-80+12751_-80+12765delCATGCTGTTTGGGAA	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPBL_chr5_36871769_37071413	36901500	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02559.hp1 others(1): Show HG01891.hp2 HG02257.hp1 HG02559.hp1 NA21309.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0105 a0003c0005t0001g0106 a0003c0005t0001g0108 others(1): Show a0003c0005t0001g0105 a0003c0005t0001g0106 a0003c0005t0001g0108 a0003c0005t0001g0109	4	328	0.0122	-15	c.-80 others(34): Show c.-80+24334_-80+24348delTTTTTTTTTTTTTTT	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPBL_chr5_36871769_37071413	37051536	ATTTACAA others(8): Show ATTTACAATGAAATTG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19074.hp2 HG02080.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0288 a0001c0002t0001g0275 a0001c0002t0001g0288	2	328	0.0061	-15	c.695 others(32): Show c.6955-238_6955-224delCAATGAAATTGTTTA	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPSNAP1_chr22_29549808_29586113	29558265	TTCGAGAC others(8): Show TTCGAGACCAGCTTGG	T T	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	376	0.0027	-15	c.790 others(30): Show c.790+590_790+604delCCAAGCTGGTCTCGA	NIPSNAP1	ENSG00000184117.12	transcript	ENST00000216121.12	protein_coding	9/9			chr22	TogoVar
NIPSNAP1_chr22_29549808_29586113	29567738	CCCAGCTA others(8): Show CCCAGCTACTCAGGAG	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	376	0.0027	-15	c.367 others(32): Show c.367+1440_367+1454delCTCCTGAGTAGCTGG	NIPSNAP1	ENSG00000184117.12	transcript	ENST00000216121.12	protein_coding	4/9			chr22	TogoVar
NIPSNAP1_chr22_29549808_29586113	29585486	CCCTCCCC others(8): Show CCCTCCCCAACCCACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	376	0.0027	-15	c.-44 others(26): Show c.-4419_-4405delTGTGGGTTGGGGAGG	NIPSNAP1	ENSG00000184117.12	transcript	ENST00000216121.12	protein_coding		4374		chr22	TogoVar
NKAIN2_chr6_123798865_124830640	123932406	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02486.hp1 HG02602.hp2 others(2): Show HG01346.hp2 HG02486.hp1 HG02602.hp2 HG03688.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0011 a0001c0001t0002g0043 a0001c0001t0002g0052 others(2): Show a0001c0001t0001g0011 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0003g0012 a0001c0001t0016g0010	5	66	0.0758	-15	c.54+ others(34): Show c.54+128166_54+128180delTTTTTTTTTTTTTTT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	123955590	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	66	0.0152	-15	c.54+ others(34): Show c.54+151371_54+151385delATTTTATTTTATTTT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124616437	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	66	0.0152	-15	c.274 others(34): Show c.274-41709_274-41695delTTTTTTTTTTTTTTT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62581110	TATAAAAT others(8): Show TATAAAATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0063 a0001c0001t0042g0063	1	144	0.0069	-15	c.192 others(32): Show c.192+1481_192+1495delTAAAATAAAATAAAA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62735366	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02922.hp1 HG03195.hp2 HG01192.hp1 HG02922.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0089 a0001c0002t0023 a0002c0003t0001 a0001c0001t0089 a0001c0002t0023 a0002c0003t0001	a0001c0001t0089g0098 a0001c0002t0023g0106 a0002c0003t0001g0117 a0001c0001t0089g0098 a0001c0002t0023g0106 a0002c0003t0001g0117	3	144	0.0208	-15	c.274 others(34): Show c.274-11562_274-11548delCTTTCTTTCTTTTTT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN4_chr20_63235784_63259463	63248173	TGGGCACC others(8): Show TGGGCACCTGCCCCAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02145.hp2 others(17): Show HG01109.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp2 NA18906.hp1 NA19043.hp2 NA20129.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0007 a0001c0011 others(2): Show a0001c0001 a0001c0007 a0001c0011 a0008c0012 a0009c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0007t0001 a0001c0007t0002 a0001c0011t0002 a0008c0012t0001 a0009c0013t0015	a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0130 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0130 a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0002g0101 a0001c0001t0004g0083 a0001c0001t0007g0110 a0001c0001t0007g0117 a0001c0007t0001g0178 a0001c0007t0002g0080 a0001c0011t0002g0081 a0001c0011t0002g0119 a0008c0012t0001g0079 a0009c0013t0015g0193	20	354	0.0565	-15	c.274 others(30): Show c.274-413_274-399delCTGGGGCAGGTGCCC	NKAIN4	ENSG00000101198.15	transcript	ENST00000370316.8	protein_coding	3/6			chr20	TogoVar
NKAPD1_chr11_112069299_112090150	112072879	CAAAACAA others(8): Show CAAAACAAAACAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0028 a0001c0001t0019g0028	2	382	0.0052	-15	c.-20 others(26): Show c.-2045_-2031delAAAACAAAACAAAAA	NKAPD1	ENSG00000150776.18	transcript	ENST00000393047.8	protein_coding		1419		chr11	TogoVar
NKD1_chr16_50543396_50654249	50589689	TTTCTTTT others(8): Show TTTCTTTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18998.hp1 NA18747.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0044 a0001c0001t0004 a0001c0001t0044	a0001c0001t0004g0056 a0001c0001t0044g0200 a0001c0001t0004g0056 a0001c0001t0044g0200	2	212	0.0094	-15	c.193 others(34): Show c.193-18600_193-18586delTTTCTCTTCTCTTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD1_chr16_50543396_50654249	50589694	TTTCTCTT others(8): Show TTTCTCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00741.hp2 others(19): Show HG00323.hp1 HG00408.hp1 HG00741.hp2 HG01099.hp1 HG01175.hp1 HG02109.hp1 HG02451.hp2 HG03195.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 NA18971.hp2 NA18981.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0027 a0001c0001t0051 a0001c0002t0008 a0001c0003t0004	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0050 others(19): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0050 a0001c0001t0001g0086 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0122 a0001c0001t0003g0173 a0001c0001t0004g0054 a0001c0001t0004g0148 a0001c0001t0021g0165 a0001c0001t0027g0043 a0001c0001t0051g0172 a0001c0002t0008g0024 a0001c0003t0004g0191	22	212	0.1038	-15	c.193 others(34): Show c.193-18543_193-18529delTCTCTTCTCTTCTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD1_chr16_50543396_50654249	50589751	TCTCTTCT others(8): Show TCTCTTCTCTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp1 HG02055.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0052 a0001c0001t0003 a0001c0001t0052	a0001c0001t0003g0006 a0001c0001t0052g0176 a0001c0001t0003g0006 a0001c0001t0052g0176	2	212	0.0094	-15	c.193 others(34): Show c.193-18538_193-18524delTCTCTTCTCTCCTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD1_chr16_50543396_50654249	50589756	TCTCTTCT others(8): Show TCTCTTCTCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0174 a0001c0001t0005g0174	1	212	0.0047	-15	c.193 others(34): Show c.193-18533_193-18519delTCTCTCCTCTCCTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD1_chr16_50543396_50654249	50589761	TCTCTCCT others(8): Show TCTCTCCTCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01884.hp1 others(8): Show HG00408.hp1 HG00639.hp2 HG01884.hp1 HG02717.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03710.hp1 NA18951.hp2 NA18988.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0001t0025 a0001c0001t0055 a0001c0001t0067	a0001c0001t0001g0110 a0001c0001t0002g0106 a0001c0001t0003g0156 others(8): Show a0001c0001t0001g0110 a0001c0001t0002g0106 a0001c0001t0003g0156 a0001c0001t0003g0182 a0001c0001t0004g0184 a0001c0001t0005g0146 a0001c0001t0007g0020 a0001c0001t0021g0165 a0001c0001t0025g0057 a0001c0001t0055g0009 a0001c0001t0067g0087	11	212	0.0519	-15	c.193 others(34): Show c.193-18477_193-18463delCTCTCCTCTCCTCTC	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKTR_chr3_42595686_42653735	42603360	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	352	0.0028	-15	c.58+ others(30): Show c.58+2307_58+2321delAAAAAAAAAAAAAAA	NKTR	ENSG00000114857.19	transcript	ENST00000232978.13	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar

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