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	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
MTFR1_chr8_65639734_65715562	65707594	CTATTTGC others(50): Show CTATTTGCCCTGAAGGAGAGTAGAGTCCATGTTCTGCAGACATATTACAT GGCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	348	0.0029	-57	c.765 others(72): Show c.765-248_765-192delTATTTGCCCTGAAGGAGAGTAGAGTCCATG TTCTGCAGACATATTACATGGCCCTTT		MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	6/7						chr8	TogoVar
MTHFD1_chr14_64383353_64465025	64463712	GCTTGAGC others(50): Show GCTTGAGCCAGGGATTGTACCACTGCACTCCAGCCTGAGCAAGACCCTGT CTCAAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	342	0.0029	-57	c.39 others(68): Show c.3959_*4015delCTTGAGCCAGGGATTGTACCACTGCACTCCAGCC TGAGCAAGACCCTGTCTCAAATA		MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding					3688		chr14	TogoVar
MUC20_chr3_195715978_195738551	195718148	TGCTTCAA others(50): Show TGCTTCAAGGATGGTAGAGAGCAGTCTTCAGCCTGAGACCCATCCCTAGG TAAGTAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0003 a0005c0007t0002g0003	1	185	0.0054	-57	c.-28 others(68): Show c.-2859_-2803delGCTTCAAGGATGGTAGAGAGCAGTCTTCAGCCTG AGACCCATCCCTAGGTAAGTAGC		MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding					2829		chr3	TogoVar
MUC20_chr3_195715978_195738551	195725120	TCCTCAGA others(50): Show TCCTCAGAGAGCAGCGCCTCTTCCGACAGCCCCCATCCAGTCATCACCCC GTCACGGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18991.hp2 NA19060.hp1 NA18991.hp2 NA19060.hp1	a0045 a0049 a0045 a0049	a0045c0031 a0049c0033 a0045c0031 a0049c0033	a0045c0031t0002 a0049c0033t0003 a0045c0031t0002 a0049c0033t0003	a0045c0031t0002g0029 a0049c0033t0003g0001 a0045c0031t0002g0029 a0049c0033t0003g0001	2	185	0.0108	-57	c.544 others(64): Show c.544_600delAGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGA GAGCAGCGCCTCTTCCGAC	p.Ser others(13): Show p.Ser182_Asp200del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	574/2493	544/2130	182/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725607	CCCATCCA others(50): Show CCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19060.hp1 NA19060.hp1	a0049 a0049	a0049c0033 a0049c0033	a0049c0033t0003 a0049c0033t0003	a0049c0033t0003g0001 a0049c0033t0003g0001	1	185	0.0054	-57	c.106 others(66): Show c.1061_1117delTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGA GCAGCGCCTCTTCCGACGGCC	p.Leu others(13): Show p.Leu354_Gly372del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	1091/2493	1061/2130	354/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUC20_chr3_195715978_195738551	195725664	TCCATCCA others(50): Show TCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCC GACGGCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01993.hp1 HG01993.hp1	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0003 a0026c0030t0003	a0026c0030t0003g0026 a0026c0030t0003g0026	1	185	0.0054	-57	c.113 others(66): Show c.1137_1193delGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGG CCCCCATCCAGTCATCACCCC	p.Ser others(13): Show p.Ser380_Pro398del	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding	2/4	1167/2493	1137/2130	379/709		INFO_REALIGN_3_PRIME	chr3	TogoVar
MUCL3_chr6_30935973_30959221	30949583	CACACCAT others(50): Show CACACCATCCCCAGCAGAGCCTACAGAACATGGAGAAAGGACAGCCAATG AGAACACT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp2 NA18942.hp1 NA18945.hp2 others(16): Show HG02896.hp2 NA18942.hp1 NA18945.hp2 NA18955.hp2 NA18963.hp1 NA18973.hp1 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19002.hp2 NA19054.hp2 NA19062.hp2 NA19079.hp2 NA19083.hp2 NA19087.hp1 NA19240.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0006 a0006c0006t0014 others(1): Show a0006c0006t0003 a0006c0006t0006 a0006c0006t0014 a0006c0006t0015	a0006c0006t0003g0006 a0006c0006t0003g0030 a0006c0006t0003g0095 others(5): Show a0006c0006t0003g0006 a0006c0006t0003g0030 a0006c0006t0003g0095 a0006c0006t0003g0096 a0006c0006t0003g0097 a0006c0006t0006g0006 a0006c0006t0014g0006 a0006c0006t0015g0030	19	441	0.0431	-57	c.116 others(66): Show c.1161_1217delAGCCAATGAGAACACTACACCATCCCCAGCAGAGCC TACAGAACATGGAGAAAGGAC	p.Ala others(13): Show p.Ala388_Thr406del	MUCL3	ENSG00000168631.14	transcript	ENST00000462446.6	protein_coding	2/3	1188/5313	1161/4182	387/1393		INFO_REALIGN_3_PRIME	chr6	TogoVar
MXRA8_chr1_1347691_1363555	1357430	TGGACTGT others(50): Show TGGACTGTGCAGCTGCACCACGGAGTCCCCCCACAGTCAGCGTGGCCCCA CGGGGCTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	338	0.0030	-57	c.50- others(70): Show c.50-783_50-727delGAGCCCCGTGGGGCCACGCTGACTGTGGGGGG ACTCCGTGGTGCAGCTGCACAGTCC		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding	1/9						chr1	TogoVar
MXRA8_chr1_1347691_1363555	1358758	ACCGCACC others(50): Show ACCGCACCCTTGGAGGGACAAGAAGGTCCGAGGACATGGGCCCCTGATAC CACGTGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG04184.hp1 HG01192.hp1 HG01261.hp1 HG04184.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0004 a0006c0012t0004 a0001c0001t0004 a0006c0012t0004	a0001c0001t0004g0017 a0006c0012t0004g0030 a0001c0001t0004g0017 a0006c0012t0004g0030	3	338	0.0089	-57	c.-31 others(66): Show c.-311_-255delATCACGTGGTATCAGGGGCCCATGTCCTCGGACCTT CTTGTCCCTCCAAGGGTGCGG		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					204		chr1	TogoVar
MYO1F_chr19_8515778_8582442	8543891	GTGGTGCT others(50): Show GTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCT GGTGGTGC	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	342	0.0029	-57	c.152 others(74): Show c.1524+349_1524+405delGCACCACCAGCACCACCACCACCACCAC CACCACCACCACCACCACCACCAGCACCA		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
NADK_chr1_1746232_1783470	1759276	GCACGGCT others(50): Show GCACGGCTGTGGGTACTGCACGGAGAGGGCAGGGGGTGGCGTGAAGCTTG CAGGCACA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02895.hp1 others(5): Show HG02109.hp1 HG02615.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0002c0005t0005 a0001c0001t0004 a0002c0005t0005	a0001c0001t0004g0200 a0002c0005t0005g0011 a0002c0005t0005g0296 others(3): Show a0001c0001t0004g0200 a0002c0005t0005g0011 a0002c0005t0005g0296 a0002c0005t0005g0297 a0002c0005t0005g0298 a0002c0005t0005g0299	8	414	0.0193	-57	c.264 others(74): Show c.264-2023_264-1967delTGTGCCTGCAAGCTTCACGCCACCCCCT GCCCTCTCCGTGCAGTACCCACAGCCGTG		NADK	ENSG00000008130.15	transcript	ENST00000341426.9	protein_coding	3/11						chr1	TogoVar
NALF1_chr13_107158510_107872496	107199005	AGGGGTGC others(50): Show AGGGGTGCCATGAGGCTTTTAGGGTGGGTCCTAGTTCAATAGGACAGATG TCATTATT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01884.hp1 HG02559.hp2 others(5): Show HG00323.hp2 HG01884.hp1 HG02559.hp2 HG03041.hp1 HG03041.hp2 NA18969.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0023 a0001c0001t0025 others(5): Show a0001c0001t0012 a0001c0001t0023 a0001c0001t0025 a0001c0001t0074 a0001c0001t0092 a0001c0002t0013 a0001c0002t0018 a0001c0002t0046	a0001c0001t0012g0023 a0001c0001t0023g0008 a0001c0001t0025g0005 others(5): Show a0001c0001t0012g0023 a0001c0001t0023g0008 a0001c0001t0025g0005 a0001c0001t0074g0088 a0001c0001t0092g0107 a0001c0002t0013g0082 a0001c0002t0018g0001 a0001c0002t0046g0081	8	128	0.0625	-57	c.108 others(78): Show c.1087+11522_1087+11578delAATAATGACATCTGTCCTATTGAA CTAGGACCCACCCTAAAAGCCTCATGGCACCCC		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	2/2						chr13	TogoVar
NAPA_chr19_47482637_47520063	47490454	GGTGTGTG others(50): Show GGTGTGTGTAGTGTATGTTTGGTGTGTGTGGTGTGGTGTGATGTGTGTGG TGTGGTGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG03540.hp2 others(1): Show HG02572.hp1 HG02615.hp1 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0228 a0001c0001t0001g0229 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230	4	338	0.0118	-57	c.735 others(72): Show c.735+277_735+333delACACCACACCACACACATCACACCACACCA CACACACCAAACATACACTACACACAC		NAPA	ENSG00000105402.8	transcript	ENST00000263354.8	protein_coding	9/10						chr19	TogoVar
NBPF12_chr1_146933324_147001198	146944965	TTCCTCCC others(50): Show TTCCTCCCTCCCTCCCTGCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTC CCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19010.hp1 NA19056.hp2 NA18947.hp1 NA19010.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0112	3	122	0.0246	-57	c.-47 others(76): Show c.-478+1404_-478+1460delTCCTCCCTCCCTCCCTGCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTC		NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	2/36						chr1	TogoVar
NBPF20_chr1_145285005_145430603	145305106	TTTCTTCC others(50): Show TTTCTTCCCCTTCTTCTTTCCTTCTTTGATCTTCTTCCCCTTCTTTTCTT CCCCTTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01358.hp2 NA19085.hp1 HG01358.hp2 NA19085.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0004c0006 a0003c0002 a0004c0006	a0003c0002t0001 a0004c0006t0003 a0003c0002t0001 a0004c0006t0003	a0003c0002t0001g0003 a0004c0006t0003g0002 a0003c0002t0001g0003 a0004c0006t0003g0002	2	6	0.3333	-57	c.146 others(68): Show c.14630_14686delGGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAA GAAGGAAAGAAGAAGGGGAAGAA	p.Gly others(21): Show p.Gly4877_Lys4896delinsGlu	NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	126/143	15805/19578	14630/16938	4877/5645			chr1	TogoVar
NBPF8_chr1_120410035_120474676	120444273	TGCTGTTT others(50): Show TGCTGTTTCTAAATTAACACAACGAATCTAAATCTTAATGCTGCCTCTCA TACTAATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0007 a0001c0022t0007	a0001c0022t0007g0083 a0001c0022t0007g0083	1	292	0.0034	-57	c.778 others(74): Show c.778+2785_778+2841delGCTGTTTCTAAATTAACACAACGAATCT AAATCTTAATGCTGCCTCTCATACTAATA		NBPF8	ENSG00000270231.5	transcript	ENST00000698216.1	protein_coding	8/22						chr1	TogoVar
NCAPG2_chr7_158626169_158709804	158667521	CTCCTTAC others(50): Show CTCCTTACCTACCCTGTGGCCCTCCACCCGCTTACCCACTACTGGGTCCC TCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	378	0.0027	-57	c.148 others(76): Show c.1480-2828_1480-2772delAGGGCGGAGGGACCCAGTAGTGGGTA AGCGGGTGGAGGGCCACAGGGTAGGTAAGGA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667579	CCCTTACC others(50): Show CCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCC TCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02074.hp1 HG02818.hp1 others(2): Show HG00544.hp2 HG02074.hp1 HG02818.hp1 HG03540.hp2 NA18955.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0023 a0001c0001 a0002c0002 a0007c0023	a0001c0001t0001 a0002c0002t0001 a0007c0023t0001 a0001c0001t0001 a0002c0002t0001 a0007c0023t0001	a0001c0001t0001g0355 a0001c0001t0001g0356 a0002c0002t0001g0146 others(2): Show a0001c0001t0001g0355 a0001c0001t0001g0356 a0002c0002t0001g0146 a0002c0002t0001g0157 a0007c0023t0001g0158	5	378	0.0132	-57	c.148 others(76): Show c.1480-2886_1480-2830delAGGGTGGAGGGCCACAGGGTAGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NDUFB1_chr14_92111123_92126706	92124764	TAAAATAT others(50): Show TAAAATATTCAACATGATTACATGTTGAAATAATATTTTGGTTCTATTGG GTTAAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	-57	c.-31 others(68): Show c.-3185_-3129delTATTTAACCCAATAGAACCAAAATATTATTTCAA CATGTAATCATGTTGAATATTTT		NDUFB1	ENSG00000183648.11	transcript	ENST00000605997.6	protein_coding					3059		chr14	TogoVar
NEU4_chr2_241804193_241822413	241817031	TGCTGCTG others(50): Show TGCTGCTGGCCCTCCTGACAGGCCTTCTGGCCGTGCCCATGCCCCTTGGG TGCCTGGG	T T	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	HG01515.hp2 HG01515.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0007 a0006c0011t0007	a0006c0011t0007g0010 a0006c0011t0007g0010	1	319	0.0031	-57	c.144 others(65): Show c.1441_*42delTGCTGGCCCTCCTGACAGGCCTTCTGGCCGTGCCCAT GCCCCTTGGGTGCCTGGGGC	p.Cys others(13): Show p.Cys481_Ter485del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	4/4	1526/1905	1441/1455	481/484		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241819255	ATGGCCCG others(50): Show ATGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTC CTGGCTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0045 a0002c0003t0002g0045	1	319	0.0031	-57	c.22 others(68): Show c.2208_*2264delTGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCC TGTCATGCGTGTGTCCTGGCTCG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1843		chr2	TogoVar
NEXN_chr1_77883624_77948895	77887912	TTTCTTCT others(50): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG03225.hp1 HG03239.hp1 others(3): Show HG01496.hp2 HG03225.hp1 HG03239.hp1 HG03654.hp1 HG04199.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0004g0253 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0258	6	268	0.0224	-57	c.-89 others(66): Show c.-899_-843delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding					711		chr1	TogoVar
NFATC1_chr18_79390930_79534323	79482791	TCCTGGGG others(50): Show TCCTGGGGTGTCACTTCAGCGTGACCTGGTCCGGGGGTGTAATTCCAGCG TGACCTGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00741.hp1 others(13): Show HG00323.hp2 HG00733.hp2 HG00741.hp1 HG01123.hp1 HG01261.hp1 HG01496.hp1 HG01517.hp2 HG01975.hp2 HG02148.hp2 HG02486.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0027 a0001c0029 a0001c0053 others(1): Show a0001c0027 a0001c0029 a0001c0053 a0003c0007	a0001c0027t0008 a0001c0029t0004 a0001c0053t0003 others(4): Show a0001c0027t0008 a0001c0029t0004 a0001c0053t0003 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0003c0007t0008	a0001c0027t0008g0013 a0001c0027t0008g0030 a0001c0029t0004g0096 others(13): Show a0001c0027t0008g0013 a0001c0027t0008g0030 a0001c0029t0004g0096 a0001c0029t0004g0098 a0001c0053t0003g0180 a0003c0007t0001g0206 a0003c0007t0002g0014 a0003c0007t0002g0021 a0003c0007t0002g0025 a0003c0007t0003g0179 a0003c0007t0008g0017 a0003c0007t0008g0019 a0003c0007t0008g0020 a0003c0007t0008g0029 a0003c0007t0008g0031 a0003c0007t0008g0032	16	322	0.0497	-57	c.209 others(76): Show c.2093-3456_2093-3400delCCTGGGGTGTCACTTCAGCGTGACCT GGTCCGGGGGTGTAATTCCAGCGTGACCTGG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9						chr18	TogoVar
NFATC1_chr18_79390930_79534323	79504772	CGTGGGAG others(50): Show CGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01106.hp2 HG02486.hp1 others(4): Show HG00544.hp2 HG01106.hp2 HG02486.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp2 NA19056.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0018 others(4): Show a0001c0001 a0001c0004 a0001c0018 a0001c0025 a0001c0034 a0001c0055 a0005c0043	a0001c0001t0001 a0001c0004t0002 a0001c0018t0009 others(4): Show a0001c0001t0001 a0001c0004t0002 a0001c0018t0009 a0001c0025t0025 a0001c0034t0011 a0001c0055t0045 a0005c0043t0001	a0001c0001t0001g0250 a0001c0004t0002g0315 a0001c0018t0009g0128 others(4): Show a0001c0001t0001g0250 a0001c0004t0002g0315 a0001c0018t0009g0128 a0001c0025t0025g0047 a0001c0034t0011g0129 a0001c0055t0045g0008 a0005c0043t0001g0200	7	322	0.0217	-57	c.278 others(78): Show c.2782+17892_2782+17948delTGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505171	CGTGGGAG others(50): Show CGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0111 a0001c0005t0005g0111	1	322	0.0031	-57	c.278 others(78): Show c.2782+18251_2782+18307delCTGGAGGCCCTTGGGTGAGGGAAG AGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505194	GCCCTTGG others(50): Show GCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGT GGATGAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp2 HG02451.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0015 a0001c0008 a0001c0015	a0001c0008t0005 a0001c0015t0007 a0001c0008t0005 a0001c0015t0007	a0001c0008t0005g0288 a0001c0015t0007g0285 a0001c0008t0005g0288 a0001c0015t0007g0285	2	322	0.0062	-57	c.278 others(78): Show c.2782+18269_2782+18325delGGGAAGAGGCAGGAGACTGCTGTG TGGGAGGAGGTGGTGGATGAGACCCTTGGGTGA		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505299	GTGCTGGA others(50): Show GTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGA GGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0016 a0001c0046t0016	a0001c0046t0016g0144 a0001c0046t0016g0144	1	322	0.0031	-57	c.278 others(78): Show c.2782+18383_2782+18439delGGGAAGAGGCAGGAGACTGCTGCG TGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGA		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505627	CGTGGGAG others(50): Show CGTGGGAGGAGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAG ACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0005 a0005	a0005c0043 a0005c0043	a0005c0043t0001 a0005c0043t0001	a0005c0043t0001g0200 a0005c0043t0001g0200	1	322	0.0031	-57	c.278 others(78): Show c.2782+18707_2782+18763delGACGAGACCCTTGGGTGATGGAAG AGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505707	GCCCTTGG others(50): Show GCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGT GGATGAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02559.hp2 HG02738.hp2 HG01074.hp2 HG02559.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0004t0002 a0001c0008t0012 a0001c0001t0001 a0001c0004t0002 a0001c0008t0012	a0001c0001t0001g0233 a0001c0004t0002g0012 a0001c0008t0012g0009 a0001c0001t0001g0233 a0001c0004t0002g0012 a0001c0008t0012g0009	3	322	0.0093	-57	c.278 others(78): Show c.2782+18821_2782+18877delGATGAGACCCTTGGGTGAGGGAAG AGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505764	ACCCTTGG others(50): Show ACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGT GCTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02165.hp1 HG02698.hp1 others(2): Show HG00738.hp2 HG02165.hp1 HG02698.hp1 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 others(1): Show a0001c0001 a0001c0005 a0001c0010 a0001c0021	a0001c0001t0001 a0001c0005t0011 a0001c0010t0004 others(1): Show a0001c0001t0001 a0001c0005t0011 a0001c0010t0004 a0001c0021t0003	a0001c0001t0001g0218 a0001c0001t0001g0247 a0001c0005t0011g0134 others(2): Show a0001c0001t0001g0218 a0001c0001t0001g0247 a0001c0005t0011g0134 a0001c0010t0004g0289 a0001c0021t0003g0161	5	322	0.0155	-57	c.278 others(78): Show c.2782+18861_2782+18917delTGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505829	GTGAGGGA others(50): Show GTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19085.hp2 HG02056.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0001 a0001c0001t0002 a0001c0015t0001	a0001c0001t0002g0072 a0001c0015t0001g0272 a0001c0001t0002g0072 a0001c0015t0001g0272	2	322	0.0062	-57	c.278 others(78): Show c.2782+18913_2782+18969delTGCTGCGTGGGAGGAGGTGGTGCT GGAGGCCCTTGGATGAGGGAAGAGGCAGGAGAC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFE2L3_chr7_26147198_26192137	26181580	ATATAAAC others(50): Show ATATAAACACTGGTTCTTGAAAAGAAAAATGCAAAACTGCTCCCCAAAAT GCTCACCT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	400	0.0025	-57	c.751 others(74): Show c.751-2119_751-2063delATAAACACTGGTTCTTGAAAAGAAAAAT GCAAAACTGCTCCCCAAAATGCTCACCTT		NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
NFIC_chr19_3361583_3474217	3370666	CCTCTCTG others(50): Show CCTCTCTGTTCCTCTTCTTTCTCTCTGTCTGTCTCTTTCTTTCTCCCTCC CTTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02970.hp2 HG02895.hp2 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0050 a0002c0003t0196 a0001c0002t0050 a0002c0003t0196	a0001c0002t0050g0277 a0002c0003t0196g0292 a0001c0002t0050g0277 a0002c0003t0196g0292	2	300	0.0067	-57	c.30+ others(72): Show c.30+4014_30+4070delTTCTTTCTCTCTGTCTGTCTCTTTCTTTCT CCCTCCCTTCCTCTCTCTCTGTTCCTC		NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8682736	CTAATTCA others(50): Show CTAATTCATTCATCCACTCACTCACGAATTCATTCATTCATCCACTCACT CACTAATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02027.hp2 HG00558.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0081 a0001c0001t0045g0146 a0001c0001t0045g0081 a0001c0001t0045g0146	2	366	0.0055	-57	c.51 others(68): Show c.5102_*5158delTAATTCATTCATCCACTCACTCACGAATTCATTC ATTCATCCACTCACTCACTAATT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding					1586		chr19	TogoVar
NGB_chr14_77260483_77276206	77269670	CTCTCTCT others(50): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp1 HG03225.hp1 others(4): Show HG02723.hp2 HG02922.hp1 HG03225.hp1 HG03688.hp1 NA18941.hp2 NA18980.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0090 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0194	7	366	0.0191	-57	c.90- others(70): Show c.90-401_90-345delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGA		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGB_chr14_77260483_77276206	77269746	TCTCTCTC others(50): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTC CCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0129	1	366	0.0027	-57	c.90- others(70): Show c.90-477_90-421delGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NKAIN4_chr20_63235784_63259463	63250559	TGCTGCCT others(50): Show TGCTGCCTGCATCTCGGCCTTGGGGACAGGGCTGGTGAGGCTGCTCTCTG GCAGGCAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp2 HG01109.hp2 others(9): Show HG00099.hp2 HG01070.hp2 HG01109.hp2 HG01516.hp1 HG02056.hp1 HG02735.hp2 HG03491.hp1 HG03654.hp2 HG03927.hp2 NA19074.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014	a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0125 others(3): Show a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0125 a0002c0002t0003g0122 a0002c0002t0004g0123 a0002c0002t0014g0124	12	354	0.0339	-57	c.55- others(70): Show c.55-544_55-488delCTGCCTGCCAGAGAGCAGCCTCACCAGCCCTG TCCCCAAGGCCGAGATGCAGGCAGC		NKAIN4	ENSG00000101198.15	transcript	ENST00000370316.8	protein_coding	1/6						chr20	TogoVar
NKD1_chr16_50543396_50654249	50579484	GCTACACA others(50): Show GCTACACACGCACTCTAACCCGCCACGCATGCACTGTCTTACTCCTGCGG GGTACCCA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp1 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0052 a0001c0001t0047 a0001c0001t0052	a0001c0001t0047g0204 a0001c0001t0052g0176 a0001c0001t0047g0204 a0001c0001t0052g0176	2	212	0.0094	-57	c.193 others(76): Show c.193-28769_193-28713delCTCCTGCGGGGTACCCACTACACACG CACTCTAACCCGCCACGCATGCACTGTCTTA		NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD1_chr16_50543396_50654249	50579738	GCATGCAC others(50): Show GCATGCACTGTCTTACTCCTGCGGGCTACCCGCTACACACGCACTCTAAC CCGCCACA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	212	0.0047	-57	c.193 others(76): Show c.193-28535_193-28479delCGGGCTACCCGCTACACACGCACTCT AACCCGCCACACATGCACTGTCTTACTCCTG		NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP8_chr19_55942832_55993629	55993488	TCTCCCCC others(50): Show TCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCC CTCCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0210 a0003c0004t0009g0210	1	350	0.0029	-57	c.55 others(68): Show c.5576_*5632delCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCCTCCCCTC		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4860		chr19	TogoVar
NME8_chr7_37843597_37905397	37848188	AGAAGAAG others(50): Show AGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01346.hp2 others(13): Show HG00323.hp2 HG01081.hp2 HG01346.hp2 HG01928.hp2 HG02071.hp2 HG02738.hp2 HG03017.hp2 HG03491.hp2 HG03834.hp1 NA18953.hp2 NA18960.hp2 NA19003.hp1 NA19006.hp1 NA19079.hp1 NA19086.hp1 NA19086.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0008 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0004t0003 a0002c0002t0001 a0002c0008t0001 a0004c0005t0001	a0001c0001t0001g0063 a0001c0001t0001g0111 a0001c0001t0001g0167 others(13): Show a0001c0001t0001g0063 a0001c0001t0001g0111 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0076 a0001c0004t0001g0091 a0001c0004t0001g0110 a0001c0004t0003g0103 a0001c0004t0003g0117 a0002c0002t0001g0044 a0002c0008t0001g0045 a0004c0005t0001g0155	16	388	0.0412	-57	c.-78 others(66): Show c.-780_-724delGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					408		chr7	TogoVar
NOC4L_chr12_132139457_132157468	132155097	CAGCTACA others(50): Show CAGCTACATCCGTAATGAGGGATAGCTGAAGAGCTGTGGAGCGCGCGTTC CGGCGATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	294	0.0034	-57	c.26 others(68): Show c.2697_*2753delAGCTACATCCGTAATGAGGGATAGCTGAAGAGCT GTGGAGCGCGCGTTCCGGCGATA		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding					2630		chr12	TogoVar
NOSTRIN_chr2_168797637_168870514	168863979	TAGCTCAC others(50): Show TAGCTCACTGCAACCTCCGTCTCCTGGATTCAAGTGATTCTCCTGCCTCA GTCTCCCA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp2 HG00621.hp1 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0205 a0001c0002t0002g0232 a0001c0002t0002g0205 a0001c0002t0002g0232	2	326	0.0061	-57	c.138 others(74): Show c.1385-796_1385-740delGCTCACTGCAACCTCCGTCTCCTGGATT CAAGTGATTCTCCTGCCTCAGTCTCCCAA		NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136517120	CGGCCCGA others(50): Show CGGCCCGAGGGCAGGGGGTGGGGGCGGCCCTCACCCCTCAGGAGGCCGGG GTGCAGAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG03041.hp2 others(1): Show HG02258.hp1 HG02723.hp2 HG03041.hp2 NA19030.hp2	a0001 a0005 a0013 others(1): Show a0001 a0005 a0013 a0014	a0001c0008 a0005c0050 a0013c0032 others(1): Show a0001c0008 a0005c0050 a0013c0032 a0014c0042	a0001c0008t0004 a0005c0050t0023 a0013c0032t0027 others(1): Show a0001c0008t0004 a0005c0050t0023 a0013c0032t0027 a0014c0042t0002	a0001c0008t0004g0031 a0005c0050t0023g0134 a0013c0032t0027g0136 others(1): Show a0001c0008t0004g0031 a0005c0050t0023g0134 a0013c0032t0027g0136 a0014c0042t0002g0037	4	324	0.0124	-57	c.155 others(73): Show c.1555+95_1555+151delATCTGCACCCCGGCCTCCTGAGGGGTGAG GGCCGCCCCCACCCCCTGCCCTCGGGCC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	9/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535726	GTGGAGGG others(50): Show GTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTG GGTGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0255 a0001c0014t0001g0255	1	324	0.0031	-57	c.140 others(74): Show c.140+8241_140+8297delTCTCCACCCACCCTGCACTCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCA		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NPIPA5_chr16_15358628_15383294	15363656	TCATTAGT others(50): Show TCATTAGTTTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGC AGACACAC	T T	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	NA18985.hp1 NA18985.hp1	a0023 a0023	a0023c0016 a0023c0016	a0023c0016t0004 a0023c0016t0004	a0023c0016t0004g0250 a0023c0016t0004g0250	1	430	0.0023	-57	c.999 others(63): Show c.999_*2delGTGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGATGAT AATCTCAAGAAACTAATG	p.Glu others(19): Show p.Glu333_Ter351delins???	NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	8/8	1055/1084	999/1053	333/350			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29384075	GGAGGTGT others(50): Show GGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAG ACACTCGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(85): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp2 HG02155.hp2 HG02486.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20129.hp2	a0002 a0016 a0024 others(21): Show a0002 a0016 a0024 a0027 a0029 a0030 a0031 a0040 a0042 a0043 a0046 a0049 a0050 a0069 a0075 a0088 a0093 a0094 a0098 a0105 a0107 a0113 a0114 a0116	a0002c0002 a0002c0126 a0002c0127 others(30): Show a0002c0002 a0002c0126 a0002c0127 a0002c0130 a0002c0133 a0002c0160 a0016c0016 a0024c0026 a0027c0044 a0027c0121 a0029c0028 a0030c0043 a0030c0132 a0031c0025 a0040c0046 a0042c0030 a0043c0153 a0043c0154 a0046c0128 a0046c0131 a0049c0045 a0050c0122 a0069c0134 a0075c0056 a0088c0150 a0093c0135 a0094c0125 a0098c0155 a0105c0123 a0107c0124 a0113c0157 a0114c0151 a0116c0129	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(34): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0126t0033 a0002c0127t0006 a0002c0130t0001 a0002c0133t0009 a0002c0160t0001 a0016c0016t0001 a0024c0026t0012 a0027c0044t0001 a0027c0121t0001 a0029c0028t0001 a0030c0043t0001 a0030c0132t0001 a0031c0025t0001 a0031c0025t0032 a0040c0046t0015 a0042c0030t0001 a0042c0030t0037 a0043c0153t0001 a0043c0154t0001 a0046c0128t0001 a0046c0131t0001 a0049c0045t0001 a0050c0122t0001 a0069c0134t0001 a0075c0056t0001 a0088c0150t0001 a0093c0135t0038 a0094c0125t0001 a0098c0155t0001 a0105c0123t0001 a0107c0124t0001 a0113c0157t0001 a0114c0151t0001 a0116c0129t0002	a0002c0002t0001g0008 a0002c0002t0001g0083 a0002c0002t0001g0095 others(81): Show a0002c0002t0001g0008 a0002c0002t0001g0083 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0006g0214 a0002c0002t0006g0215 a0002c0002t0006g0216 a0002c0002t0006g0217 a0002c0002t0006g0218 a0002c0002t0006g0219 a0002c0002t0006g0220 a0002c0002t0006g0222 a0002c0002t0006g0223 a0002c0002t0006g0224 a0002c0002t0006g0225 a0002c0002t0006g0226 a0002c0126t0033g0382 a0002c0127t0006g0221 a0002c0130t0001g0123 a0002c0133t0009g0392 a0002c0160t0001g0204 a0016c0016t0001g0084 a0016c0016t0001g0085 a0016c0016t0001g0087 a0016c0016t0001g0088 a0016c0016t0001g0089 a0024c0026t0012g0021 a0024c0026t0012g0388 a0027c0044t0001g0103 a0027c0044t0001g0125 a0027c0121t0001g0107 a0029c0028t0001g0090 a0029c0028t0001g0092 a0029c0028t0001g0196 a0030c0043t0001g0094 a0030c0043t0001g0200 a0030c0132t0001g0118 a0031c0025t0001g0134 a0031c0025t0001g0147 a0031c0025t0032g0381 a0040c0046t0015g0022 a0042c0030t0001g0086 a0042c0030t0037g0397 a0043c0153t0001g0072 a0043c0154t0001g0073 a0046c0128t0001g0105 a0046c0131t0001g0075 a0049c0045t0001g0007 a0050c0122t0001g0120 a0069c0134t0001g0074 a0075c0056t0001g0113 a0088c0150t0001g0071 a0093c0135t0038g0398 a0094c0125t0001g0101 a0098c0155t0001g0116 a0105c0123t0001g0122 a0107c0124t0001g0097 a0113c0157t0001g0076 a0114c0151t0001g0093 a0116c0129t0002g0329	88	428	0.2056	-57	c.800 others(64): Show c.800_856delTCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGAT GATAATCTCAAGACACCTC	p.Leu others(13): Show p.Leu267_Pro285del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	3603/6369	800/3486	267/1161			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225417	GGGAGGTG others(50): Show GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCA GACACTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19079.hp1 NA19079.hp1	a0052 a0052	a0052c0061 a0052c0061	a0052c0061t0001 a0052c0061t0001	a0052c0061t0001g0050 a0052c0061t0001g0050	1	145	0.0069	-57	c.972 others(65): Show c.972_1028delTGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCGGAT GATAATCTCAAGACACCTCC	p.Glu others(13): Show p.Glu325_Pro343del	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3771/6292	972/3417	324/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30225531	AGGAGGTG others(50): Show AGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCA CACACTCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG00741.hp2 HG01099.hp2 others(7): Show HG00639.hp1 HG00741.hp2 HG01099.hp2 HG01255.hp1 HG01981.hp2 HG02559.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp2 NA19067.hp2	a0007 a0010 a0016 others(3): Show a0007 a0010 a0016 a0017 a0032 a0033	a0007c0017 a0007c0072 a0007c0074 others(6): Show a0007c0017 a0007c0072 a0007c0074 a0010c0034 a0010c0036 a0016c0032 a0017c0073 a0032c0035 a0033c0033	a0007c0017t0002 a0007c0072t0002 a0007c0074t0003 others(6): Show a0007c0017t0002 a0007c0072t0002 a0007c0074t0003 a0010c0034t0006 a0010c0036t0006 a0016c0032t0002 a0017c0073t0002 a0032c0035t0006 a0033c0033t0024	a0007c0017t0002g0124 a0007c0017t0002g0133 a0007c0072t0002g0125 others(7): Show a0007c0017t0002g0124 a0007c0017t0002g0133 a0007c0072t0002g0125 a0007c0074t0003g0105 a0010c0034t0006g0022 a0010c0036t0006g0020 a0016c0032t0002g0123 a0017c0073t0002g0132 a0032c0035t0006g0021 a0033c0033t0024g0145	10	145	0.0690	-57	c.858 others(64): Show c.858_914delCGAGTGTGTGCTCACTCCCCTTCCACCCTCAGCGGATG ATAATCTCAAGACACCTCC	p.Glu others(13): Show p.Glu287_Pro305del	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	3657/6292	858/3417	286/1138			chr16	TogoVar
NPIPB2_chr16_11922373_11947045	11927631	AGCTGAGG others(50): Show AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGAT TATCATCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02630.hp2 HG02723.hp2 HG02735.hp1 others(2): Show HG02630.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0033 a0001c0039 a0002c0015 others(1): Show a0001c0033 a0001c0039 a0002c0015 a0002c0026	a0001c0033t0001 a0001c0039t0001 a0002c0015t0001 others(1): Show a0001c0033t0001 a0001c0039t0001 a0002c0015t0001 a0002c0026t0001	a0001c0033t0001g0054 a0001c0039t0001g0103 a0002c0015t0001g0256 others(2): Show a0001c0033t0001g0054 a0001c0039t0001g0103 a0002c0015t0001g0256 a0002c0015t0001g0257 a0002c0026t0001g0284	5	414	0.0121	-57	c.879 others(64): Show c.879_935delGGATGATAATCTCAAGACACCTCCCGAGTGTCTGCTCA CTCCCCTTCCACCCTCAGC	p.Asp others(13): Show p.Asp294_Ala312del	NPIPB2	ENSG00000234719.9	transcript	ENST00000399147.8	protein_coding	8/8	935/1194	879/1194	293/397			chr16	TogoVar

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