Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NCBP2L_chrX_107772733_107800829	107782212	TATATATA others(43): Show TATATATATAAATATATATATATAAATATATATATATAAATATATATATA A	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	298	0.0034	-50	c.-73 others(67): Show c.-73+4364_-73+4413delAATATATATATATAAATATATATATATA AATATATATATAAATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCOA6_chr20_34709774_34830651	34817161	ATGTATAT others(43): Show ATGTATATAAATGGGTACTACGGAACTGATATTCAACAGATTCAATATCA G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00639.hp1 others(9): Show HG00099.hp2 HG00609.hp2 HG00639.hp1 HG01168.hp2 HG01975.hp2 HG02056.hp1 HG02735.hp2 NA18963.hp2 NA18968.hp1 NA18986.hp2 NA18988.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0117 others(9): Show a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166	12	267	0.0449	-50	c.-16 others(69): Show c.-164+8261_-164+8310delCTGATATTGAATCTGTTGAATATCAG TTCCGTAGTACCCATTTATATACA	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14			chr20	TogoVar
NCOR2_chr12_124319415_124572612	124362759	CACAGGGG others(43): Show CACAGGGGGAGCTCACCTCCTAAAAAGTCTGGCCCAGCTGCCTGGTGGTG A	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02280.hp2 others(11): Show HG01243.hp1 HG01243.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02818.hp1 HG02897.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0021 a0024	a0001c0028 a0001c0087 a0002c0014 others(9): Show a0001c0028 a0001c0087 a0002c0014 a0002c0015 a0002c0040 a0002c0106 a0002c0107 a0002c0108 a0003c0074 a0005c0064 a0021c0151 a0024c0065	a0001c0028t0026 a0001c0087t0067 a0002c0014t0001 others(11): Show a0001c0028t0026 a0001c0087t0067 a0002c0014t0001 a0002c0014t0017 a0002c0015t0005 a0002c0015t0078 a0002c0040t0036 a0002c0106t0014 a0002c0107t0037 a0002c0108t0028 a0003c0074t0005 a0005c0064t0028 a0021c0151t0053 a0024c0065t0014	a0001c0028t0026g0108 a0001c0087t0067g0126 a0002c0014t0001g0223 others(11): Show a0001c0028t0026g0108 a0001c0087t0067g0126 a0002c0014t0001g0223 a0002c0014t0017g0055 a0002c0015t0005g0140 a0002c0015t0078g0232 a0002c0040t0036g0151 a0002c0106t0014g0203 a0002c0107t0037g0169 a0002c0108t0028g0162 a0003c0074t0005g0127 a0005c0064t0028g0161 a0021c0151t0053g0056 a0024c0065t0014g0114	14	232	0.0603	-50	c.292 others(67): Show c.2929-512_2929-463delTCACCACCAGGCAGCTGGGCCAGACTTT TTAGGAGGTGAGCTCCCCCTGT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	23/48			chr12	TogoVar
NDC80_chr18_2566557_2621635	2614540	GAAGGAAG others(43): Show GAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGAAAGAAAG A	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	399	0.0025	-50	c.179 others(69): Show c.1792-1893_1792-1844delGAAGGAAGGAAGGAAGGAAGGGAAAG AAAGAAAGAAAGAAAGAAAGAAAG	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
NDUFAF1_chr15_41382353_41407496	41382480	GCAGCCAC others(43): Show GCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02257.hp2 others(13): Show HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp2 HG03516.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0041 a0001c0002t0001g0063 others(12): Show a0001c0002t0001g0010 a0001c0002t0001g0041 a0001c0002t0001g0063 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0194 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0239 a0001c0002t0001g0254 a0001c0002t0001g0262 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0273	16	352	0.0455	-50	c.49 others(61): Show c.4914_*4963delGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGTGGCTG	NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding		4872		chr15	TogoVar
NDUFS7_chr19_1378907_1400584	1394634	CCTCCCTC others(43): Show CCTCCCTCCCTGGGGACCTCGCTCCTCCCTCCCTCCCTGCGGACTGTGCT G	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	416	0.0024	-50	c.545 others(65): Show c.545-745_545-696delGGGACCTCGCTCCTCCCTCCCTCCCTGCGG ACTGTGCTGCTCCCTCCCTG	NDUFS7	ENSG00000115286.21	transcript	ENST00000233627.14	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NEGR1_chr1_71390943_72287539	71752675	ATCTCCCC others(43): Show ATCTCCCCGGTCTATAAATCAAATACTATGGAATCAATCATTCATGTACC C	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	64	0.0156	-50	c.535 others(69): Show c.535+23447_535+23496delGGGTACATGAATGATTGATTCCATAG TATTTGATTTATAGACCGGGGAGA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	3/6			chr1	TogoVar
NEK5_chr13_52028611_52134073	52080215	GGGGGGGG others(43): Show GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG T	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01099.hp2 HG03017.hp2 others(5): Show HG00544.hp1 HG01099.hp2 HG03017.hp2 HG03688.hp1 HG06807.hp1 NA18994.hp2 NA19080.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0013 a0001c0003t0010 a0001c0003t0013	a0001c0003t0010g0020 a0001c0003t0010g0022 a0001c0003t0010g0023 others(5): Show a0001c0003t0010g0020 a0001c0003t0010g0022 a0001c0003t0010g0023 a0001c0003t0010g0173 a0001c0003t0010g0174 a0001c0003t0013g0024 a0001c0003t0013g0025 a0001c0003t0013g0026	8	332	0.0241	-50	c.157 others(69): Show c.1572+2995_1572+3044delACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCC	NEK5	ENSG00000197168.14	transcript	ENST00000684899.1	protein_coding	17/23			chr13	TogoVar
NELFA_chr4_1977723_2013974	2009377	GGTGGGGC others(43): Show GGTGGGGCGGAGGCTCCCTGTGGCACCTGCCCCGCTGTCCGCTCTTCGCT T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	358	0.0028	-50	c.-46 others(59): Show c.-468_-419delAAGCGAAGAGCGGACAGCGGGGCAGGTGCCACAGGG AGCCTCCGCCCCAC	NELFA	ENSG00000185049.16	transcript	ENST00000382882.9	protein_coding		404		chr4	TogoVar
NEMF_chr14_49777083_49857788	49821592	GGTCAGCC others(43): Show GGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG C	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	220	0.0045	-50	c.157 others(69): Show c.1577+4225_1577+4274delGCCCCCCACCTCCCTCCCGGACGGGG CAGCTGGCCGGGCGGGGGGCTGAC	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	16/32			chr14	TogoVar
NFASC_chr1_204823652_205027822	204877018	ATATATAT others(43): Show ATATATATATAATATATATTTATATATATATAATATATTTATTTATATAT T	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01169.hp1 others(1): Show HG00735.hp1 HG01167.hp1 HG01169.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0004 a0001c0012t0001 a0001c0002t0004 a0001c0012t0001	a0001c0002t0004g0004 a0001c0012t0001g0045 a0001c0012t0001g0046 others(1): Show a0001c0002t0004g0004 a0001c0012t0001g0045 a0001c0012t0001g0046 a0001c0012t0001g0047	4	224	0.0179	-50	c.-19 others(71): Show c.-199-43603_-199-43554delATATATATTTATATATATATAATA TATTTATTTATATATTTATATATATA	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204877018	ATATATAT others(43): Show ATATATATATAATATATATTTATATATATATAATATATTTATTTATATAT T	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp1 HG01169.hp1 others(2): Show HG00735.hp2 HG01167.hp1 HG01169.hp1 HG02109.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0012 a0001c0002t0005 a0001c0008t0001 a0001c0001t0012 a0001c0002t0005 a0001c0008t0001	a0001c0001t0012g0165 a0001c0002t0005g0213 a0001c0008t0001g0143 others(2): Show a0001c0001t0012g0165 a0001c0002t0005g0213 a0001c0008t0001g0143 a0001c0008t0001g0145 a0001c0008t0001g0146	5	262	0.0191	-50	c.-91 others(67): Show c.-91+5959_-91+6008delATATATATTTATATATATATAATATATT TATTTATATATTTATATATATA	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFATC1_chr18_79390930_79534323	79395648	CCCCCCTC others(43): Show CCCCCCTCCCCGGGCGCCCCCCCTCCCCGTGCGCCCCCCCCTCCCCGTGC G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0023 a0001c0024t0002g0023	1	320	0.0031	-50	c.-57 others(59): Show c.-576_-527delCCCCCTCCCCGGGCGCCCCCCCTCCCCGTGCGCCCC CCCCTCCCCGTGCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		281		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79488249	GGTGTGTG others(43): Show GGTGTGTGTGTGTTTGCGGTAGTGTGTCCCATGGAGCCCGCAGCCCTGGT T	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02109.hp2 others(6): Show HG01081.hp1 HG01243.hp1 HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0010 a0001c0006 a0001c0008 a0001c0010	a0001c0006t0049 a0001c0008t0012 a0001c0008t0047 others(5): Show a0001c0006t0049 a0001c0008t0012 a0001c0008t0047 a0001c0010t0002 a0001c0010t0004 a0001c0010t0005 a0001c0010t0028 a0001c0010t0029	a0001c0006t0049g0049 a0001c0008t0012g0009 a0001c0008t0047g0284 others(6): Show a0001c0006t0049g0049 a0001c0008t0012g0009 a0001c0008t0047g0284 a0001c0010t0002g0080 a0001c0010t0004g0290 a0001c0010t0005g0126 a0001c0010t0028g0004 a0001c0010t0029g0081 a0001c0010t0029g0125	9	293	0.0307	-50	c.278 others(69): Show c.2782+1325_2782+1374delTTGCGGTAGTGTGTCCCATGGAGCCC GCAGCCCTGGTTGTGTGTGTGTGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79525339	CACCGTCG others(43): Show CACCGTCGTTACCCCTCAGGCCTCCCCACGTCCCACCGTCGTTACCCCTC A	C C	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0059 a0002c0002t0059	a0002c0002t0059g0069 a0002c0002t0059g0069	1	320	0.0031	-50	c.278 others(69): Show c.2783-2188_2783-2139delACCGTCGTTACCCCTCAGGCCTCCCC ACGTCCCACCGTCGTTACCCCTCA	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9			chr18	TogoVar
NFU1_chr2_69391126_69442435	69423158	GTGTGTGT others(43): Show GTGTGTGTGTATGTGTGTGTGTGTGTGGTGAGATGGGCTGTGTGTGTGTG T	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG03669.hp1 HG00642.hp1 HG01175.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0101	3	366	0.0082	-50	c.302 others(65): Show c.302+374_302+423delACACACACACACAGCCCATCTCACCACACA CACACACACATACACACACA	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	3/7			chr2	TogoVar
NGEF_chr2_232873701_233018256	232900613	TACACACA others(43): Show TACACACACGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACT C	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02572.hp1 HG02615.hp2 others(4): Show HG00738.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02896.hp2 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0028 a0001c0002t0011 a0001c0002t0028	a0001c0002t0011g0014 a0001c0002t0011g0048 a0001c0002t0011g0050 others(4): Show a0001c0002t0011g0014 a0001c0002t0011g0048 a0001c0002t0011g0050 a0001c0002t0011g0186 a0001c0002t0011g0206 a0001c0002t0011g0216 a0001c0002t0028g0015	7	172	0.0407	-50	c.829 others(67): Show c.829-5747_829-5698delGAGTGAATGTGAGTGAACGTGTATATGA GTGACTGTGAGAGCGTGTGTGT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232906167	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAAGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(127): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG01993.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0012 a0002c0006 a0002c0008 a0002c0009 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0003 a0001c0002t0011 a0001c0002t0016 a0001c0002t0028 a0001c0002t0035 a0001c0003t0005 a0001c0003t0010 a0001c0005t0002 a0001c0011t0001 a0001c0012t0001 a0002c0006t0001 a0002c0006t0002 a0002c0006t0006 a0002c0006t0007 a0002c0006t0008 a0002c0008t0004 a0002c0009t0002 a0002c0014t0002	a0001c0001t0001g0038 a0001c0001t0001g0120 a0001c0001t0001g0121 others(126): Show a0001c0001t0001g0038 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0257 a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0080 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0187 a0001c0001t0002g0195 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0259 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0315 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0348 a0001c0001t0002g0355 a0001c0001t0003g0191 a0001c0001t0003g0357 a0001c0001t0005g0234 a0001c0001t0006g0062 a0001c0001t0006g0072 a0001c0001t0006g0112 a0001c0001t0006g0113 a0001c0001t0006g0131 a0001c0001t0006g0145 a0001c0001t0006g0169 a0001c0001t0006g0324 a0001c0001t0006g0350 a0001c0001t0007g0039 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0007g0240 a0001c0001t0008g0109 a0001c0001t0008g0111 a0001c0001t0008g0115 a0001c0001t0008g0116 a0001c0001t0008g0170 a0001c0001t0008g0183 a0001c0001t0008g0211 a0001c0001t0008g0260 a0001c0001t0009g0034 a0001c0001t0009g0097 a0001c0001t0009g0307 a0001c0001t0009g0319 a0001c0001t0009g0341 a0001c0001t0013g0068 a0001c0001t0013g0073 a0001c0001t0013g0076 a0001c0001t0013g0264 a0001c0001t0015g0182 a0001c0001t0015g0192 a0001c0001t0015g0193 a0001c0001t0015g0311 a0001c0001t0023g0012 a0001c0001t0025g0009 a0001c0001t0026g0345 a0001c0001t0029g0204 a0001c0001t0031g0016 a0001c0001t0032g0308 a0001c0001t0033g0171 a0001c0002t0003g0041 a0001c0002t0003g0049 a0001c0002t0003g0118 a0001c0002t0003g0202 a0001c0002t0011g0014 a0001c0002t0011g0048 a0001c0002t0011g0050 a0001c0002t0011g0186 a0001c0002t0011g0206 a0001c0002t0011g0208 a0001c0002t0011g0216 a0001c0002t0011g0326 a0001c0002t0016g0018 a0001c0002t0028g0015 a0001c0002t0035g0360 a0001c0003t0005g0108 a0001c0003t0005g0294 a0001c0003t0010g0017 a0001c0003t0010g0045 a0001c0003t0010g0099 a0001c0003t0010g0222 a0001c0003t0010g0223 a0001c0003t0010g0224 a0001c0003t0010g0227 a0001c0005t0002g0133 a0001c0011t0001g0253 a0001c0012t0001g0114 a0002c0006t0001g0166 a0002c0006t0002g0352 a0002c0006t0006g0013 a0002c0006t0006g0056 a0002c0006t0006g0137 a0002c0006t0006g0142 a0002c0006t0006g0163 a0002c0006t0007g0026 a0002c0006t0008g0156 a0002c0006t0008g0165 a0002c0006t0008g0174 a0002c0008t0004g0134 a0002c0009t0002g0328 a0002c0009t0002g0329 a0002c0009t0002g0330 a0002c0014t0002g0353	130	265	0.4906	-50	c.829 others(69): Show c.829-11301_829-11252delCACCTCCTTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232906333	TGGGAGGG others(43): Show TGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC C	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0020 a0001c0005t0007g0020	1	360	0.0028	-50	c.829 others(69): Show c.829-11467_829-11418delGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NINJ2_chr12_559296_668445	618292	GAGGTGGG others(43): Show GAGGTGGGGGTGAGGAGTTGGTAATGAGGTGGGGGTGAGGAGTTGGTAAT A	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	402	0.0025	-50	c.33+ others(67): Show c.33+44986_33+45035delTATTACCAACTCCTCACCCCCACCTCAT TACCAACTCCTCACCCCCACCT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	661909	CTCGGGCT others(43): Show CTCGGGCTGCAGCAGTGAATAAAACAGGAGAGGCCCTGCCCTCAGAGATC T	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0373 a0001c0001t0002g0373	1	402	0.0025	-50	c.33+ others(65): Show c.33+1369_33+1418delAGATCTCTGAGGGCAGGGCCTCTCCTGTTT TATTCACTGCTGCAGCCCGA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINL_chr20_25447697_25590531	25548853	GGGCTGAC others(43): Show GGGCTGACCCCAGCACCCACGGCCACAGGTCCCACACCCAGCCTCACCCA A	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	308	0.0032	-50	c.-11 others(69): Show c.-11-22305_-11-22256delTTGGGTGAGGCTGGGTGTGGGACCTG TGGCCGTGGGTGCTGGGGTCAGCC	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25549023	AGCCACAC others(43): Show AGCCACACCTCCCACACCCAGCCTCACCCAGGCCTGACCCCGGCACCCAC G	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02040.hp2 NA18971.hp2 HG00597.hp2 HG02040.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0030 a0001c0001 a0001c0030	a0001c0001t0003 a0001c0030t0003 a0001c0001t0003 a0001c0030t0003	a0001c0001t0003g0253 a0001c0001t0003g0266 a0001c0030t0003g0272 a0001c0001t0003g0253 a0001c0001t0003g0266 a0001c0030t0003g0272	3	307	0.0098	-50	c.-11 others(69): Show c.-11-22475_-11-22426delCGTGGGTGCCGGGGTCAGGCCTGGGT GAGGCTGGGTGTGGGAGGTGTGGC	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NIPSNAP2_chr7_55959585_56005179	55963712	TCTTTCTT others(43): Show TCTTTCTTTCTCCTGCCTCCCTCCCTTCCTTTCTTTCTCCTTCCTTCCCT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	414	0.0024	-50	c.-89 others(59): Show c.-897_-848delCTTTCTTTCTCCTGCCTCCCTCCCTTCCTTTCTTTC TCCTTCCTTCCCTC	NIPSNAP2	ENSG00000146729.10	transcript	ENST00000322090.8	protein_coding		872		chr7	TogoVar
NKAIN2_chr6_123798865_124830640	123976262	TATGTTTC others(43): Show TATGTTTCCATATATATGTTTCCATATATATGTTTCCATATATATGTTTC C	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	64	0.0156	-50	c.54+ others(69): Show c.54+172011_54+172060delGTTTCCATATATATGTTTCCATATAT ATGTTTCCATATATATGTTTCCAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	123976330	CATATATA others(43): Show CATATATATATATGTTCCCATATATATATATATATATATTCCCATATATA T	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0007 a0001c0002t0018g0007	1	62	0.0161	-50	c.54+ others(69): Show c.54+172089_54+172138delGTTCCCATATATATATATATATATAT TCCCATATATATATATATATATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKD1_chr16_50543396_50654249	50589736	TCTCTTCT others(43): Show TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCCTCTCCTCTCCTCTCCTCT C	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	208	0.0048	-50	c.193 others(69): Show c.193-18553_193-18504delTCTCTTCTCTTCTCTTCTCTTCTCTC CTCTCCTCTCCTCTCCTCTCCTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP12_chr19_53788741_53829314	53819551	GTATGTAT others(43): Show GTATGTATACGTATATATATGCGTATATATGTATGTATACGTATATACGC A	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	413	0.0024	-50	c.289 others(67): Show c.289+4285_289+4334delTGCGTATATACGTATACATACATATATA CGCATATATATACGTATACATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NMNAT2_chr1_183243237_183423380	183389802	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAAAA G	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03490.hp1 NA21309.hp2 HG00609.hp1 HG03490.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0041 a0001c0001t0004 a0001c0001t0021 a0001c0001t0041	a0001c0001t0004g0067 a0001c0001t0021g0018 a0001c0001t0041g0054 a0001c0001t0004g0067 a0001c0001t0021g0018 a0001c0001t0041g0054	3	256	0.0117	-50	c.85+ others(67): Show c.85+28331_85+28380delCTTTTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NOC2L_chr1_939203_964256	963740	CAGGGTTG others(43): Show CAGGGTTGTTCAGGCAGCCAGGGTCCTGTGCCCACCAGCGGGCCCTGCCT G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	420	0.0024	-50	c.-45 others(61): Show c.-4550_-4501delCAGGCAGGGCCCGCTGGTGGGCACAGGACCCTGG CTGCCTGAACAACCCT	NOC2L	ENSG00000188976.11	transcript	ENST00000327044.7	protein_coding		4485		chr1	TogoVar
NOL4L_chr20_32438059_32590333	32488280	AGATGGCC others(43): Show AGATGGCCCATGATGACCCTCACCGCCCAGTTTCATACCCTGGTACCATC G	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	194	0.0052	-50	c.700 others(69): Show c.700-13588_700-13539delCGATGGTACCAGGGTATGAAACTGGG CGGTGAGGGTCATCATGGGCCATC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOTUM_chr17_81947507_81966187	81957438	TACAGGAA others(43): Show TACAGGAACCCACAGGGGTGATCCTCATCTACCGGGCCCTGGAGAAGGAG C	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	382	0.0026	-50	c.695 others(65): Show c.695+318_696-365delGCTCCTTCTCCAGGGCCCGGTAGATGAGGA TCACCCCTGTGGGTTCCTGT	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding	6/10			chr17	TogoVar
NPIPB5_chr16_22505891_22541535	22514835	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01981.hp2 HG01975.hp2 HG01981.hp2	a0013 a0014 a0013 a0014	a0013c0030 a0014c0031 a0013c0030 a0014c0031	a0013c0030t0007 a0014c0031t0008 a0013c0030t0007 a0014c0031t0008	a0013c0030t0007g0011 a0014c0031t0008g0013 a0013c0030t0007g0011 a0014c0031t0008g0013	2	13	0.1538	-50	c.120 others(65): Show c.120+930_120+979delCACACACACACACACACACACACACACACA CACACACACACACACACACA	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28470592	GGGGGAGG others(43): Show GGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGA A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0021 a0019c0023t0021	a0019c0023t0021g0321 a0019c0023t0021g0321	1	378	0.0026	-50	c.-20 others(59): Show c.-204_-155delTTCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCTTC CCCTTCCCCTCCCC	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	1/7	155		chr16	TogoVar
NPM1_chr5_171382849_171415900	171403630	AGGGGGGC others(43): Show AGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGG C	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	400	0.0025	-50	c.670 others(67): Show c.670-1654_670-1605delCACCTCCCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCC	NPM1	ENSG00000181163.14	transcript	ENST00000296930.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
NR3C2_chr4_148073764_148447414	148186986	GTGTATGT others(43): Show GTGTATGTATGTATATATATATATATATATATATATATATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	36	0.0278	-50	c.201 others(69): Show c.2014+7710_2014+7759delTATATATATATATATATATATATATA TATATATATATATACATACATACA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	4/8			chr4	TogoVar
NR5A2_chr1_200022710_200182415	200113188	TATATGTT others(43): Show TATATGTTTCCTGCAGCCTGGATTCTTCCAGCTCCCCTCCCCACTCTTTA A	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	284	0.0035	-50	c.123 others(69): Show c.1230+1911_1230+1960delTCTTTAAATATGTTTCCTGCAGCCTG GATTCTTCCAGCTCCCCTCCCCAC	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NRBF2_chr10_63128328_63160024	63135758	TGCCTCAG others(43): Show TGCCTCAGCCTTCTGAGTAGCTGGGATTTCAGGCACGCGCCGCCACGCCC A	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	390	0.0026	-50	c.30+ others(65): Show c.30+2261_30+2310delCTCAGCCTTCTGAGTAGCTGGGATTTCAGG CACGCGCCGCCACGCCCAGC	NRBF2	ENSG00000148572.16	transcript	ENST00000277746.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRIP1_chr21_14956235_15070000	15031053	TACATTCC others(43): Show TACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC C	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0116	1	164	0.0061	-50	c.-45 others(71): Show c.-458+12392_-458+12441delGGTGATCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031193	AGAGGTTC others(43): Show AGAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGTT G	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18963.hp2 NA18984.hp2 others(3): Show NA18940.hp2 NA18963.hp2 NA18984.hp2 NA18989.hp2 NA19009.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 others(3): Show a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0351	6	358	0.0168	-50	c.-45 others(71): Show c.-458+12252_-458+12301delCAACCACCTTCCAGAGTGTATACA CATAGAAAGGGAATGTGGTGAACCTC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031238	TGGTTGGA others(43): Show TGGTTGGAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGG C	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00609.hp1 others(43): Show HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00673.hp1 HG00741.hp1 HG01175.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp2 HG02602.hp2 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18953.hp2 NA18956.hp2 NA18960.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA19002.hp2 NA19011.hp2 NA19054.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0014c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0002t0006 a0001c0011t0022 a0002c0003t0003 a0002c0003t0045 a0014c0020t0002	a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0004g0001 others(40): Show a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0004g0001 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0111 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0132 a0001c0001t0004g0359 a0001c0001t0007g0005 a0001c0001t0007g0113 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0156 a0001c0001t0007g0157 a0001c0001t0032g0087 a0001c0001t0033g0121 a0001c0001t0034g0094 a0001c0002t0006g0029 a0001c0011t0022g0101 a0001c0011t0022g0103 a0002c0003t0003g0079 a0002c0003t0045g0114 a0014c0020t0002g0102	46	312	0.1474	-50	c.-45 others(71): Show c.-458+12207_-458+12256delGCCTTCCAGAGTGTATACACATAG AAAGGGAATGTGGTGAACCTCCAACC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP3_chr11_8975576_9009001	8978674	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG02630.hp1 others(1): Show HG00140.hp2 HG00323.hp1 HG02630.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0029 a0001c0001t0055	a0001c0001t0001g0222 a0001c0001t0018g0162 a0001c0001t0029g0254 others(1): Show a0001c0001t0001g0222 a0001c0001t0018g0162 a0001c0001t0029g0254 a0001c0001t0055g0155	4	401	0.0100	-50	c.48 others(61): Show c.4821_*4870delCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG GAGGGCTGACCCCCCC	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1901		chr11	TogoVar
NRXN2_chr11_64601174_64728197	64701887	TGTCCGGG others(43): Show TGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	306	0.0033	-50	c.731 others(67): Show c.731-4145_731-4096delGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGAC	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN3_chr14_78165373_79873291	78314876	CCGTTCTT others(43): Show CCGTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	22	0.0455	-50	c.757 others(69): Show c.757+17018_757+17067delGTTCTTTCTTTCTTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSDHL_chrX_152826063_152874729	152872646	GTGTTTGT others(43): Show GTGTTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGGTGTGGGTGTGTGTGT T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG03540.hp2 HG03669.hp2 others(2): Show HG00558.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0168 a0001c0001t0004g0047	5	322	0.0155	-50	c.35 others(61): Show c.3531_*3580delTGTTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGG TGTGGGTGTGTGTGTT	NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding		2918		chrX	TogoVar
NSDHL_chrX_152826063_152874729	152872649	TTTGTGGG others(43): Show TTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGGTGTGGGTGTGTGTGTTTG T	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(99): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02451.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03239.hp1 HG03491.hp2 HG03834.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18987.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18997.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19083.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0003c0006t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0010 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0138 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0008g0088 a0001c0002t0001g0005 a0003c0006t0001g0036 a0004c0005t0001g0082 a0004c0005t0001g0083	102	266	0.3835	-50	c.35 others(61): Show c.3534_*3583delTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGGTGT GGGTGTGTGTGTTTGT	NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding		2921		chrX	TogoVar
NTM_chr11_131365615_132341822	131401799	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	33	0.0303	-50	c.82+ others(67): Show c.82+30924_82+30973delATATATATATATATATATATATATATAT ATATATATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873537	TGTATATA others(43): Show TGTATATATATACATATATATATACCGTATATATATACATATATATATAC C	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp2 HG03471.hp1 others(2): Show HG01243.hp1 HG02922.hp2 HG03471.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0003g0049 a0001c0001t0003g0051 others(2): Show a0001c0001t0001g0023 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0004g0005 a0001c0001t0004g0029	5	81	0.0617	-50	c.83- others(67): Show c.83-37977_83-37928delCGTATATATATACATATATATATACCGT ATATATATACATATATATATAC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTNG2_chr9_132157058_132249526	132174294	CACCATGC others(43): Show CACCATGCTGCGGATGAGACGGACGGACGGACGGACAGACAGACAGGTCG A	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG03041.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0001t0043 a0001c0002t0042 a0001c0001t0041 a0001c0001t0043 a0001c0002t0042	a0001c0001t0041g0213 a0001c0001t0043g0212 a0001c0002t0042g0240 a0001c0001t0041g0213 a0001c0001t0043g0212 a0001c0002t0042g0240	3	321	0.0093	-50	c.213 others(67): Show c.213+7261_213+7310delGGATGAGACGGACGGACGGACGGACAGA CAGACAGGTCGAACCATGCTGC	NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT19_chr19_32686821_32718792	32704419	GCCCAGCT others(43): Show GCCCAGCTAAGTTTTGCATTTTTAGTAGAGACGGGGTTTCGCCATGTTGG T	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	404	0.0025	-50	c.715 others(67): Show c.715-4764_715-4715delCCAGCTAAGTTTTGCATTTTTAGTAGAG ACGGGGTTTCGCCATGTTGGTC	NUDT19	ENSG00000213965.4	transcript	ENST00000397061.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar

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