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
NOLC1_chr10_102147389_102168870	102161160	AGAGTAGG others(37): Show AGAGTAGGGTAGTGAGAGGAGGCCCACCACTGGGCTTCCAGTTGT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0056 a0009c0011t0001g0056	1	408	0.0025	-44	c.174 others(60): Show c.1741+69_1741+112delAGTAGGGTAGTGAGAGGAGGCCCACCACT GGGCTTCCAGTTGTG	NOLC1	ENSG00000166197.17	transcript	ENST00000605788.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
NOM1_chr7_156944712_156978176	156976558	TCGTGATC others(37): Show TCGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(173): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(7): Show a0001 a0004 a0007 a0008 a0010 a0011 a0016 a0017 a0019 a0022	a0001c0001 a0001c0011 a0001c0013 others(14): Show a0001c0001 a0001c0011 a0001c0013 a0001c0017 a0001c0018 a0001c0021 a0001c0030 a0001c0031 a0004c0005 a0007c0009 a0008c0012 a0010c0020 a0011c0022 a0016c0032 a0017c0027 a0019c0024 a0022c0033	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(29): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0017t0012 a0001c0018t0022 a0001c0021t0001 a0001c0030t0004 a0001c0031t0001 a0004c0005t0001 a0004c0005t0012 a0007c0009t0009 a0007c0009t0035 a0008c0012t0011 a0010c0020t0001 a0011c0022t0020 a0016c0032t0001 a0017c0027t0001 a0019c0024t0016 a0022c0033t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0256 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0015 a0001c0001t0004g0026 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0100 a0001c0001t0004g0108 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0130 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0147 a0001c0001t0004g0179 a0001c0001t0004g0199 a0001c0001t0012g0003 a0001c0001t0012g0033 a0001c0001t0012g0139 a0001c0001t0014g0006 a0001c0001t0016g0030 a0001c0001t0016g0040 a0001c0001t0021g0010 a0001c0001t0021g0047 a0001c0001t0031g0133 a0001c0001t0032g0008 a0001c0001t0033g0131 a0001c0001t0034g0033 a0001c0001t0036g0110 a0001c0001t0037g0027 a0001c0001t0038g0201 a0001c0011t0001g0022 a0001c0011t0001g0074 a0001c0011t0001g0262 a0001c0013t0001g0120 a0001c0013t0001g0121 a0001c0013t0001g0122 a0001c0013t0001g0146 a0001c0017t0001g0009 a0001c0017t0012g0009 a0001c0018t0022g0055 a0001c0021t0001g0002 a0001c0030t0004g0008 a0001c0031t0001g0142 a0004c0005t0001g0018 a0004c0005t0001g0061 a0004c0005t0001g0063 a0004c0005t0001g0206 a0004c0005t0001g0207 a0004c0005t0001g0208 a0004c0005t0001g0211 a0004c0005t0001g0225 a0004c0005t0012g0061 a0007c0009t0009g0014 a0007c0009t0009g0049 a0007c0009t0009g0093 a0007c0009t0009g0103 a0007c0009t0035g0014 a0008c0012t0011g0048 a0008c0012t0011g0145 a0008c0012t0011g0257 a0008c0012t0011g0284 a0010c0020t0001g0113 a0010c0020t0001g0114 a0011c0022t0020g0035 a0016c0032t0001g0255 a0017c0027t0001g0074 a0019c0024t0016g0106 a0022c0033t0001g0063	176	426	0.4132	-44	c.68 others(55): Show c.6856_*6899delCGTGATCCACCCGCCTTGGCCTCCCAAAGTTCTG GGATTACAGG	NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding		3383		chr7	TogoVar
NOS1AP_chr1_162064691_162375475	162289209	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0172 a0001c0004t0003g0172	1	182	0.0055	-44	c.270 others(61): Show c.270+1800_270+1843delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117359876	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG03130.hp2 HG02486.hp1 HG02895.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0125 a0001c0006t0093 a0001c0011t0016 a0001c0001t0125 a0001c0006t0093 a0001c0011t0016	a0001c0001t0125g0166 a0001c0006t0093g0167 a0001c0011t0016g0168 a0001c0001t0125g0166 a0001c0006t0093g0167 a0001c0011t0016g0168	3	294	0.0102	-44	c.-42 others(63): Show c.-421+1592_-421+1635delTATATATATATATATATATATATATA TATATATATATATATATA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS2_chr17_27751766_27805529	27771086	CCTGGGCT others(37): Show CCTGGGCTTCCTCCCACACTGCCCCCAGGCTGCGGCTCCTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	402	0.0025	-44	c.170 others(60): Show c.1705-113_1705-70delAGCACAGGAGCCGCAGCCTGGGGGCAGTG TGGGAGGAAGCCCAG	NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	14/26			chr17	TogoVar
NPAS1_chr19_47014837_47050775	47027576	TTCTCTCT others(37): Show TTCTCTCTGCCCCTGGTCTCCCGTCTCTCTGCCCCTGGTCTCCCG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02630.hp2 HG03540.hp2 HG00733.hp1 HG02630.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0405 a0001c0003t0001g0303 a0001c0003t0001g0310 a0001c0001t0001g0405 a0001c0003t0001g0303 a0001c0003t0001g0310	3	418	0.0072	-44	c.359 others(61): Show c.359-4676_359-4633delCTCTGCCCCTGGTCTCCCGTCTCTCTGC CCCTGGTCTCCCGTCT	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS3_chr14_32933879_33809173	33543946	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00738.hp2 others(38): Show HG00140.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01496.hp2 HG02055.hp1 HG02055.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18968.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0050 a0001c0001t0053 a0001c0001t0056 a0001c0003t0043 a0001c0007t0060 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0028 a0002c0005t0012 a0002c0005t0015 a0002c0005t0047	a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0069 others(38): Show a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0062 a0001c0001t0003g0002 a0001c0001t0004g0007 a0001c0001t0004g0012 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0006g0020 a0001c0001t0007g0083 a0001c0001t0010g0055 a0001c0001t0011g0016 a0001c0001t0013g0001 a0001c0001t0013g0022 a0001c0001t0014g0080 a0001c0001t0021g0036 a0001c0001t0022g0015 a0001c0001t0024g0009 a0001c0001t0029g0035 a0001c0001t0034g0088 a0001c0001t0035g0076 a0001c0001t0040g0078 a0001c0001t0042g0070 a0001c0001t0044g0092 a0001c0001t0050g0089 a0001c0001t0053g0048 a0001c0001t0056g0047 a0001c0003t0043g0091 a0001c0007t0060g0042 a0002c0002t0001g0056 a0002c0002t0002g0019 a0002c0002t0011g0027 a0002c0002t0028g0031 a0002c0005t0012g0005 a0002c0005t0015g0068 a0002c0005t0047g0051	41	92	0.4457	-44	c.469 others(63): Show c.469-16162_469-16119delATATATATATATATATATATATATAT ATATATATATATATATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33543959	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02622.hp1 others(2): Show HG01884.hp1 HG02486.hp2 HG02622.hp1 HG02922.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0059 a0002c0004t0026	a0001c0001t0002g0040 a0001c0001t0003g0058 a0001c0001t0004g0059 others(2): Show a0001c0001t0002g0040 a0001c0001t0003g0058 a0001c0001t0004g0059 a0001c0003t0059g0049 a0002c0004t0026g0023	5	92	0.0544	-44	c.469 others(63): Show c.469-16156_469-16113delATATATATATATATATATATATATAT ATATATATATATCTATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPIPB13_chr16_30217897_30253479	30225838	ATTCATTT others(37): Show ATTCATTTGATGGACAAAATTACCGCCACCAACACAGTCTGCACC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0002 a0018c0030t0002	a0018c0030t0002g0121 a0018c0030t0002g0121	1	145	0.0069	-44	c.643 others(57): Show c.643-79_643-36delGGTGCAGACTGTGTTGGTGGCGGTAATTTTGT CCATCAAATGAA	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	7/7			chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28358889	CTGACCAA others(37): Show CTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	361	0.0028	-44	c.120 others(61): Show c.120+3770_120+3813delATTTTTGTATTTTTAGTAGAGACAGGGT TTCACCATGTTGGTCA	NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	2/7			chr16	TogoVar
NR0B1_chrX_30299206_30314390	30301296	GAGGGAGG others(37): Show GAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0072 a0001c0002t0001g0021 a0001c0002t0001g0072	2	322	0.0062	-44	c.32 others(55): Show c.3239_*3282delTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCT	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2909		chrX	TogoVar
NR1H3_chr11_47252996_47274033	47255571	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG04199.hp1 HG02004.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	368	0.0054	-44	c.-25 others(55): Show c.-2595_-2552delTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC TCTCTCTCTC	NR1H3	ENSG00000025434.19	transcript	ENST00000441012.7	protein_coding		2424		chr11	TogoVar
NRP1_chr10_33172493_33339667	33283668	CAGCAAAC others(37): Show CAGCAAACCTTTAACTATCTCTATATTAGGAACAAACTCATGGAG	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0243 a0001c0025t0004g0243	1	262	0.0038	-44	c.249 others(63): Show c.249-12856_249-12813delCTCCATGAGTTTGTTCCTAATATAGA GATAGTTAAAGGTTTGCT	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	2/16			chr10	TogoVar
NRXN1_chr2_49913503_51037132	50329603	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01517.hp1 HG02300.hp2 HG01261.hp1 HG01517.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0033 a0001c0001t0001 a0001c0001t0020 a0001c0002t0033	a0001c0001t0001g0055 a0001c0001t0020g0063 a0001c0002t0033g0097 a0001c0001t0001g0055 a0001c0001t0020g0063 a0001c0002t0033g0097	3	116	0.0259	-44	c.336 others(65): Show c.3365-92677_3365-92634delTATATATATATATATATATATATA TATATACACACACACACACA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50329611	GTGTGTGT others(37): Show GTGTGTGTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp2 HG02717.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0044 a0001c0002t0065 a0001c0001t0044 a0001c0002t0065	a0001c0001t0044g0058 a0001c0002t0065g0116 a0001c0001t0044g0058 a0001c0002t0065g0116	2	116	0.0172	-44	c.336 others(65): Show c.3365-92685_3365-92642delTATATATATATATATATATATATA TATATATATATATACACACA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78490172	GAAAGTGC others(37): Show GAAAGTGCTGGGATTACAGGTGTGATCCACCACACCCGGCCTCCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01243.hp1 others(15): Show HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG02257.hp1 HG02922.hp1 HG02922.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0002t0007 a0001c0002t0011 a0001c0002t0015 a0001c0003t0004 a0001c0003t0009 a0001c0003t0012 a0001c0004t0001 a0001c0004t0005 a0001c0004t0006 a0001c0007t0002 a0001c0008t0004 a0001c0010t0001	a0001c0001t0002g0018 a0001c0001t0003g0013 a0001c0001t0008g0008 others(15): Show a0001c0001t0002g0018 a0001c0001t0003g0013 a0001c0001t0008g0008 a0001c0001t0010g0006 a0001c0001t0014g0004 a0001c0002t0007g0009 a0001c0002t0011g0016 a0001c0002t0015g0011 a0001c0003t0004g0015 a0001c0003t0009g0024 a0001c0003t0012g0019 a0001c0004t0001g0005 a0001c0004t0005g0003 a0001c0004t0006g0021 a0001c0007t0002g0010 a0001c0007t0002g0020 a0001c0008t0004g0014 a0001c0010t0001g0012	18	24	0.7500	-44	c.758 others(65): Show c.758-154906_758-154863delCCCAAAGTGCTGGGATTACAGGTG TGATCCACCACACCCGGCCT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSUN6_chr10_18540561_18656587	18558654	AGTGGAAA others(37): Show AGTGGAAAGGAATTGAAAATGGAAAAGAATGGAATGGAATGGCGG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0339 a0001c0001t0016g0339	1	346	0.0029	-44	c.923 others(61): Show c.923-6727_923-6684delCCGCCATTCCATTCCATTCTTTTCCATT TTCAATTCCTTTCCAC	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18563165	AATGGAAT others(37): Show AATGGAATGGAATGGAGAATGGTATGGAATGGAATGGAGAATGGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG01243.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0297 a0001c0001t0005g0298	2	346	0.0058	-44	c.923 others(63): Show c.923-11238_923-11195delACCATTCTCCATTCCATTCCATACCA TTCTCCATTCCATTCCAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
NTM_chr11_131365615_132341822	131401799	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	86	0.0116	-44	c.82+ others(61): Show c.82+30930_82+30973delATATATATATATATATATATATATATAT ATATATATATATATAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131789490	GAGGAAAG others(37): Show GAGGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	86	0.0116	-44	c.83- others(63): Show c.83-122071_83-122028delGAAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDT3_chr6_34274679_34397669	34357343	CATGGTGC others(37): Show CATGGTGCCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0146 a0001c0001t0064g0146	1	270	0.0037	-44	c.100 others(63): Show c.100-15415_100-15372delACCTGGCCTCCCAAAGTGCTAGGATT ACAGGCATGAGGCACCAT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUMB_chr14_73270216_73463546	73299562	TCATATAT others(37): Show TCATATATATGACATGACATATGTCATGTCATATATATGATATGA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0085 a0001c0001t0011g0085	1	322	0.0031	-44	c.235 others(61): Show c.235-2321_235-2278delTCATATCATATATATGACATGACATATG TCATGTCATATATATG	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	6/12			chr14	TogoVar
NUP153_chr6_17610037_17711925	17697732	CTCTATAA others(37): Show CTCTATAACACTAACTCAGAAACAGCTGGGGTGGGGGAAGGCTAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0165 a0001c0009t0001g0165	1	316	0.0032	-44	c.111 others(61): Show c.111+8501_111+8544delATAGCCTTCCCCCACCCCAGCTGTTTCT GAGTTAGTGTTATAGA	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	1/21			chr6	TogoVar
NUP210_chr3_13311235_13425322	13377699	ACCACCCA others(37): Show ACCACCCACCTGCAGGCCCCACACCACTTACCTGGAGGCCCCACT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02071.hp2 NA18998.hp1 HG02004.hp2 HG02071.hp2 NA18998.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0036 a0001c0001 a0004c0036	a0001c0001t0002 a0004c0036t0003 a0001c0001t0002 a0004c0036t0003	a0001c0001t0002g0066 a0001c0001t0002g0077 a0004c0036t0003g0176 a0001c0001t0002g0066 a0001c0001t0002g0077 a0004c0036t0003g0176	3	326	0.0092	-44	c.104 others(61): Show c.1046-181_1046-138delAGTGGGGCCTCCAGGTAAGTGGTGTGGG GCCTGCAGGTGGGTGG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	8/39			chr3	TogoVar
NUP210_chr3_13311235_13425322	13377799	CAGGCCCC others(37): Show CAGGCCCCACACCACTTACCTGGAGGCCCCACACCACCCACCTGC	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0213 a0002c0002t0001g0213	1	326	0.0031	-44	c.104 others(61): Show c.1046-281_1046-238delGCAGGTGGGTGGTGTGGGGCCTCCAGGT AAGTGGTGTGGGGCCT	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	8/39			chr3	TogoVar
NUP54_chr4_76109664_76153397	76125276	TCTCACAG others(37): Show TCTCACAGAAACAAAAAACAAAAAACAGAGTGAGACTCCATCACA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp2 HG02055.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0024 a0002c0002t0003g0025	2	370	0.0054	-44	c.105 others(61): Show c.1057-564_1057-521delTGTGATGGAGTCTCACTCTGTTTTTTGT TTTTTGTTTCTGTGAG	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP62CL_chrX_107118427_107211433	107204749	TTTAAATA others(37): Show TTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp2 others(61): Show HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00642.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02280.hp2 HG02451.hp1 HG02602.hp1 HG03490.hp1 HG03669.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19062.hp1 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19091.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0005c0005t0003	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(61): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0005g0072 a0001c0001t0006g0045 a0005c0005t0003g0118	64	280	0.2286	-44	c.-92 others(61): Show c.-92+1480_-92+1523delTTTATTTAAAATTTATTTAAATAATTTA TTTAAAATTTATTTAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NXN_chr17_794310_984776	955575	AGACGCGG others(37): Show AGACGCGGTGGCTCACGCCTGTAATCCCAGCACCTCGGGAGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01243.hp2 others(6): Show HG00597.hp2 HG00673.hp1 HG01243.hp2 HG01891.hp2 HG02056.hp1 HG02056.hp2 HG03098.hp1 HG06807.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0024	a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0222 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0222 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0081 a0001c0001t0003g0084 a0001c0001t0004g0041 a0001c0001t0024g0011	9	242	0.0372	-44	c.360 others(63): Show c.360+23700_360+23743delCGGCCTCCCGAGGTGCTGGGATTACA GGCGTGAGCCACCGCGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPH1_chr7_8428609_8757961	8742557	GAGATATT others(37): Show GAGATATTTTGTTAATTGGAAAATATATAATGTAATTTATAAAAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01109.hp1 others(10): Show HG00408.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01346.hp1 HG01928.hp2 HG01934.hp2 HG02148.hp1 HG02602.hp1 HG03490.hp2 HG03492.hp1 HG04115.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0020	a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0034 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0158 a0001c0001t0001g0177 a0001c0001t0002g0016 a0001c0001t0002g0035 a0001c0001t0002g0090 a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0016g0099 a0001c0001t0020g0117	13	208	0.0625	-44	c.55- others(59): Show c.55-8447_55-8404delTATTTTGTTAATTGGAAAATATATAATGTA ATTTATAAAATAGA	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
OC90_chr8_132019216_132064382	132028539	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG01934.hp2 HG01109.hp1 HG01123.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0135 a0001c0002t0002g0051 a0001c0001t0001g0135 a0001c0002t0002g0051	3	408	0.0074	-44	c.113 others(61): Show c.1138+490_1138+533delCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTTCTTTCTT	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13			chr8	TogoVar
OCA2_chr15_27749875_28104315	27770768	CCCTCCCT others(37): Show CCCTCCCTTCCATCCTTCCTTCCTCCCTCCCTCTTTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	110	0.0091	-44	c.243 others(65): Show c.2433-15340_2433-15297delAAGGAAGGAAAAGAGGGAGGGAGG AAGGAAGGATGGAAGGGAGG	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27913884	AAAGAAAG others(37): Show AAAGAAAGAAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02055.hp2 HG02080.hp2 others(2): Show HG00423.hp1 HG02055.hp2 HG02080.hp2 HG02602.hp1 HG02723.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0006 a0001c0008 a0003c0013 others(1): Show a0001c0006 a0001c0008 a0003c0013 a0011c0037	a0001c0006t0001 a0001c0008t0001 a0003c0013t0001 others(1): Show a0001c0006t0001 a0001c0008t0001 a0003c0013t0001 a0011c0037t0001	a0001c0006t0001g0003 a0001c0008t0001g0040 a0001c0008t0001g0069 others(2): Show a0001c0006t0001g0003 a0001c0008t0001g0040 a0001c0008t0001g0069 a0003c0013t0001g0007 a0011c0037t0001g0080	5	110	0.0455	-44	c.207 others(65): Show c.2079+12199_2079+12242delGCTTGCTTGCTTGCTTGCTTGCTT GCTTGCTTGCTTTCTTTCTT	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	19/23			chr15	TogoVar
OLFM1_chr9_135082668_135126180	135124491	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0281 a0003c0007t0001g0281	1	360	0.0028	-44	c.43 others(55): Show c.4314_*4357delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3312		chr9	TogoVar
OPCML_chr11_132409981_133537501	133140999	ACGACGAC others(37): Show ACGACGACGACGACGACGACGACGACGACGACGACGACGACGACG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp1 HG01978.hp2 HG00642.hp2 HG01496.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015	a0001c0001t0008g0010 a0001c0001t0009g0060 a0001c0001t0015g0043 a0001c0001t0008g0010 a0001c0001t0009g0060 a0001c0001t0015g0043	3	68	0.0441	-44	c.62- others(63): Show c.62-198033_62-197990delCGTCGTCGTCGTCGTCGTCGTCGTCG TCGTCGTCGTCGTCGTCG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68416047	TATATATA others(37): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	155	0.0065	-44	c.154 others(63): Show c.154+16776_154+16819delCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPLAH_chr8_144046266_144065692	144048405	TCGCGTGC others(37): Show TCGCGTGCCCCGGCAGAGCTGCGCGCAGGGCAGAACCAAAGGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	-44	c.28 others(55): Show c.2877_*2920delGGACCTTTGGTTCTGCCCTGCGCGCAGCTCTGCC GGGGCACGCG	OPLAH	ENSG00000178814.17	transcript	ENST00000618853.5	protein_coding		2860		chr8	TogoVar
OR2A12_chr7_144081278_144103953	144099021	CCTTTCTT others(37): Show CCTTTCTTTCTCTTTCTTTCTTTCTTCTTTCTCTTTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA19005.hp2 NA19082.hp1 NA18950.hp2 NA19005.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	3	390	0.0077	-44	c.29 others(55): Show c.2982_*3025delCTTTCTTTCTCTTTCTTTCTTTCTTCTTTCTCTT TTCTTTCTTT	OR2A12	ENSG00000221858.3	transcript	ENST00000641592.1	protein_coding		69		chr7	TogoVar
OR2AG1_chr11_6778020_6796558	6779192	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0001 a0001c0001t0040g0001	1	468	0.0021	-44	c.-42 others(55): Show c.-4299_-4256delTATATATATATATATATATATATATATTTTTTTT TTTTTTTTTT	OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding		3827		chr11	TogoVar
OR2M3_chr1_248192265_248217925	248213423	ATGTATAT others(37): Show ATGTATATATATATATGTATATATATATATGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0003 a0001c0003t0013g0003	1	410	0.0024	-44	c.94 others(55): Show c.9418_*9461delTGTATATATATATATGTATATATATATATGTATA TATATATATG	OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding		499		chr1	TogoVar
OR4F5_chr1_60419_76585	66220	TATATATT others(37): Show TATATATTATATAATATATATTATATTATATAATATATAATATAA	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0041	1	215	0.0047	-44	c.9+6 others(55): Show c.9+653_9+696delTTATATAATATATATTATATTATATAATATATAA TATAAATATA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR4K2_chr14_19870142_19888932	19872665	ACACATAT others(37): Show ACACATATATATACCTATTTTTATATATATACACATATATATACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0004 a0001c0001t0036g0004	1	254	0.0039	-44	c.-34 others(55): Show c.-3492_-3449delCACATATATATACCTATTTTTATATATATACACA TATATATACC	OR4K2	ENSG00000165762.3	transcript	ENST00000641885.1	protein_coding		2476		chr14	TogoVar
OR4M2B_chr15_21632909_21643992	21642105	ATATATAC others(37): Show ATATATACACACATATATGTATATATATATATACACATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00738.hp1 others(21): Show HG00423.hp1 HG00558.hp2 HG00738.hp1 HG00741.hp2 HG01258.hp1 HG01258.hp2 HG02080.hp1 HG02135.hp2 HG02257.hp2 HG02717.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03927.hp1 NA18945.hp1 NA18959.hp2 NA18973.hp2 NA18981.hp2 NA18993.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA20300.hp2	a0003 a0004 a0011 a0003 a0004 a0011	a0003c0003 a0004c0004 a0011c0016 a0003c0003 a0004c0004 a0011c0016	a0003c0003t0001 a0004c0004t0001 a0011c0016t0001 a0003c0003t0001 a0004c0004t0001 a0011c0016t0001	a0003c0003t0001g0000 a0004c0004t0001g0000 a0011c0016t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 a0011c0016t0001g0000	24	215	0.1116	-44	c.31 others(55): Show c.3158_*3201delTATATACACACATATATGTATATATATATATACA CATATATATG	OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding		3114		chr15	TogoVar
OR4M2B_chr15_21632909_21643992	21642159	ACACACAT others(37): Show ACACACATATATATGTATATATATATATACACACATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	1	215	0.0047	-44	c.32 others(55): Show c.3212_*3255delCACACATATATATGTATATATATATATACACACA TATATATATG	OR4M2B	ENSG00000182974.3	transcript	ENST00000332663.3	protein_coding		3168		chr15	TogoVar
OR4M2_chr15_22075527_22086610	22084716	CATATATA others(37): Show CATATATATGTATATAGATATACACACATATATATGTATATAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA19240.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	2	50	0.0400	-44	c.31 others(55): Show c.3151_*3194delATATATATGTATATAGATATACACACATATATAT GTATATAGAT	OR4M2	ENSG00000274102.3	transcript	ENST00000614722.3	protein_coding		3107		chr15	TogoVar
OSBPL8_chr12_76346797_76564771	76561354	AGAAACAA others(37): Show AGAAACAACGAGTCTTAGAATCTCTGAGATATTGTCATGAACTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01256.hp1 HG01978.hp1 others(1): Show HG01099.hp2 HG01256.hp1 HG01978.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 others(1): Show a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0021g0056	4	238	0.0168	-44	c.-20 others(55): Show c.-2069_-2026delCCAGTTCATGACAATATCTCAGAGATTCTAAGAC TCGTTGTTTC	OSBPL8	ENSG00000091039.17	transcript	ENST00000261183.8	protein_coding		1584		chr12	TogoVar
OSTF1_chr9_75083514_75152265	75128537	TATATATA others(37): Show TATATATATTTTGTCCATATATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp1 HG02886.hp1 others(8): Show HG00621.hp1 HG02056.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03486.hp1 NA18941.hp2 NA18961.hp1 NA19012.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0001c0003t0003	a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 others(7): Show a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0007g0287 a0001c0001t0015g0003 a0001c0001t0015g0264 a0001c0001t0015g0265 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0026	11	366	0.0301	-44	c.132 others(59): Show c.132+927_132+970delTTTGTCCATATATATATATATATATATATT TTGTCCATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOP1_chr4_4183726_4231929	4227393	TGCCGGGG others(37): Show TGCCGGGGTCCCGGGGTTGCGGGACTGGGGAGAGGGGGTCTCCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0125 a0009c0012t0001g0125	1	428	0.0023	-44	c.-57 others(53): Show c.-573_-530delCGGGAGACCCCCTCTCCCCAGTCCCGCAACCCCGGG ACCCCGGC	OTOP1	ENSG00000163982.6	transcript	ENST00000296358.5	protein_coding		465		chr4	TogoVar
OTUD7A_chr15_31470398_31875673	31510859	TATATGTA others(37): Show TATATGTATATCTATATGTAACATATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0089 a0001c0018t0089	a0001c0018t0089g0205 a0001c0018t0089g0205	1	244	0.0041	-44	c.894 others(61): Show c.894-7085_894-7042delGTTACATATAGATATACATATATGTTAC ATATAGATATACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510928	TATATGTA others(37): Show TATATGTATATCTATATGTAACATATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp1 NA19088.hp2 HG02809.hp2 HG03130.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0003 a0001c0001t0007 a0002c0003t0003	a0001c0001t0007g0008 a0001c0001t0007g0204 a0002c0003t0003g0141 a0001c0001t0007g0008 a0001c0001t0007g0204 a0002c0003t0003g0141	3	244	0.0123	-44	c.894 others(61): Show c.894-7154_894-7111delGTTACATATAGATATACATATATGTTAC ATATAGATATACATAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OXR1_chr8_106265190_106757694	106405141	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0077 a0001c0008t0002g0077	1	172	0.0058	-44	c.23+ others(61): Show c.23+45523_23+45566delTATATATATATATATATATATATATATA TATATATATATATATA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar

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