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
NBEA_chr13_34937270_35677736	35010741	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0015 a0001c0005t0016g0015	1	122	0.0082	15	c.295 others(34): Show c.295-30191_295-30190insAAATATATATATATA	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35150793	T T	TTAGAGTA others(8): Show TTAGAGTAGAGTAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02165.hp2 HG02280.hp2 others(16): Show HG00673.hp2 HG02165.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA18960.hp2 NA18979.hp2 NA18994.hp1 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0014 a0006c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0002t0013 a0001c0006t0001 a0001c0014t0001 a0006c0010t0006	a0001c0001t0001g0118 a0001c0001t0004g0035 a0001c0001t0004g0111 others(16): Show a0001c0001t0001g0118 a0001c0001t0004g0035 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0116 a0001c0001t0006g0033 a0001c0001t0006g0041 a0001c0001t0006g0043 a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0007g0117 a0001c0001t0014g0042 a0001c0001t0015g0110 a0001c0001t0020g0090 a0001c0002t0001g0019 a0001c0002t0013g0045 a0001c0006t0001g0081 a0001c0014t0001g0120 a0006c0010t0006g0039	19	122	0.1557	15	c.244 others(34): Show c.2446-4957_2446-4943dupAGTAGAGTAGAGTAG	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	18/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35329818	C C	CTCAATAA others(8): Show CTCAATAAACCAGACT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(117): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0025 a0002c0004 a0002c0016 a0002c0019 a0002c0020 a0002c0021 a0002c0022 a0003c0007 a0003c0011 a0003c0026 a0004c0008 a0005c0024 a0006c0010 a0007c0023 a0008c0015 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0003t0018 a0001c0005t0004 a0001c0005t0016 a0001c0006t0001 a0001c0006t0019 a0001c0009t0011 a0001c0012t0001 a0001c0013t0003 a0001c0014t0001 a0001c0017t0002 a0001c0025t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0016t0002 a0002c0019t0001 a0002c0020t0001 a0002c0021t0010 a0002c0022t0004 a0003c0007t0001 a0003c0007t0005 a0003c0011t0003 a0003c0026t0001 a0004c0008t0001 a0005c0024t0004 a0006c0010t0006 a0007c0023t0004 a0008c0015t0017 a0009c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0037 others(117): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0104 a0001c0001t0002g0114 a0001c0001t0003g0030 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0109 a0001c0001t0004g0035 a0001c0001t0004g0111 a0001c0001t0004g0113 a0001c0001t0004g0116 a0001c0001t0005g0002 a0001c0001t0005g0063 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0006g0033 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0043 a0001c0001t0007g0025 a0001c0001t0007g0034 a0001c0001t0007g0036 a0001c0001t0007g0094 a0001c0001t0007g0117 a0001c0001t0009g0051 a0001c0001t0009g0061 a0001c0001t0010g0029 a0001c0001t0011g0070 a0001c0001t0012g0032 a0001c0001t0014g0042 a0001c0001t0015g0110 a0001c0001t0020g0090 a0001c0002t0001g0019 a0001c0002t0001g0052 a0001c0002t0001g0057 a0001c0002t0001g0075 a0001c0002t0001g0101 a0001c0002t0001g0115 a0001c0002t0013g0045 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0005g0009 a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0003t0018g0006 a0001c0005t0004g0010 a0001c0005t0004g0012 a0001c0005t0004g0013 a0001c0005t0004g0014 a0001c0005t0016g0015 a0001c0006t0001g0081 a0001c0006t0019g0038 a0001c0009t0011g0100 a0001c0012t0001g0103 a0001c0013t0003g0084 a0001c0014t0001g0120 a0001c0017t0002g0108 a0001c0025t0001g0080 a0002c0004t0001g0020 a0002c0004t0001g0023 a0002c0004t0001g0024 a0002c0004t0002g0044 a0002c0004t0003g0018 a0002c0016t0002g0107 a0002c0019t0001g0059 a0002c0020t0001g0021 a0002c0021t0010g0022 a0002c0022t0004g0017 a0003c0007t0001g0028 a0003c0007t0005g0027 a0003c0011t0003g0026 a0003c0026t0001g0119 a0004c0008t0001g0121 a0004c0008t0001g0122 a0005c0024t0004g0011 a0006c0010t0006g0039 a0007c0023t0004g0016 a0008c0015t0017g0112 a0009c0018t0001g0001	120	122	0.9836	15	c.590 others(36): Show c.5904-19289_5904-19288insCAATAAACCAGACTT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	36/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35373707	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01243.hp2 HG02280.hp1 HG00408.hp1 HG01243.hp2 HG02280.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0003c0026 a0001c0001 a0003c0007 a0003c0026	a0001c0001t0007 a0003c0007t0001 a0003c0026t0001 a0001c0001t0007 a0003c0007t0001 a0003c0026t0001	a0001c0001t0007g0094 a0003c0007t0001g0028 a0003c0026t0001g0119 a0001c0001t0007g0094 a0003c0007t0001g0028 a0003c0026t0001g0119	3	122	0.0246	15	c.617 others(36): Show c.6179+21393_6179+21407dupTAATAATAATAATAA	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	38/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35476296	C C	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp2 HG02559.hp2 others(1): Show HG00280.hp1 HG01261.hp2 HG02559.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0013 a0001c0001t0001 a0001c0001t0002 a0001c0002t0013	a0001c0001t0001g0062 a0001c0001t0001g0118 a0001c0001t0002g0060 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0118 a0001c0001t0002g0060 a0001c0002t0013g0045	4	122	0.0328	15	c.658 others(34): Show c.6585+3805_6585+3819dupGCTGCTGCTGCTGCT	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	41/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBEA_chr13_34937270_35677736	35585131	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00642.hp2 others(5): Show HG00408.hp1 HG00558.hp1 HG00642.hp2 HG01496.hp1 HG02055.hp2 HG02486.hp1 HG04184.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0022	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0003t0018 a0001c0005t0004 a0002c0022t0004	a0001c0001t0002g0046 a0001c0001t0003g0074 a0001c0001t0006g0040 others(5): Show a0001c0001t0002g0046 a0001c0001t0003g0074 a0001c0001t0006g0040 a0001c0001t0007g0094 a0001c0001t0012g0032 a0001c0003t0018g0006 a0001c0005t0004g0012 a0002c0022t0004g0017	8	122	0.0656	15	c.717 others(34): Show c.7176+1104_7176+1105insAAAAAAAAAAAAAAA	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	46/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBN_chr8_89928331_89989667	89931902	A A	AAATAAAT others(8): Show AAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0009 a0001c0003t0004g0009	1	390	0.0026	15	c.36 others(26): Show c.3679_*3680insATTTATTTATTTATT	NBN	ENSG00000104320.15	transcript	ENST00000265433.8	protein_coding		1428		chr8	TogoVar
NBPF12_chr1_146933324_147001198	146978260	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp1 HG01358.hp2 others(11): Show HG01109.hp2 HG01358.hp1 HG01358.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG02148.hp2 HG02602.hp1 HG03239.hp2 HG04204.hp1 NA18939.hp1 NA18950.hp1 NA19002.hp1 NA19010.hp2	a0002 a0010 a0020 a0002 a0010 a0020	a0002c0002 a0002c0006 a0002c0034 others(2): Show a0002c0002 a0002c0006 a0002c0034 a0010c0009 a0020c0038	a0002c0002t0003 a0002c0002t0013 a0002c0002t0024 others(4): Show a0002c0002t0003 a0002c0002t0013 a0002c0002t0024 a0002c0006t0005 a0002c0034t0003 a0010c0009t0003 a0020c0038t0005	a0002c0002t0003g0003 a0002c0002t0003g0011 a0002c0002t0003g0024 others(11): Show a0002c0002t0003g0003 a0002c0002t0003g0011 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0013g0006 a0002c0002t0013g0007 a0002c0002t0024g0016 a0002c0006t0005g0017 a0002c0006t0005g0019 a0002c0034t0003g0030 a0010c0009t0003g0008 a0010c0009t0003g0009 a0020c0038t0005g0022	14	122	0.1148	15	c.239 others(32): Show c.2398+597_2398+611dupTTTTTTTTTTTTTTT	NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	21/36		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF12_chr1_146933324_147001198	146981282	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00735.hp2 others(2): Show HG00544.hp1 HG00609.hp2 HG00735.hp2 HG01081.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 others(2): Show a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0103	5	122	0.0410	15	c.245 others(34): Show c.2451-1646_2451-1645insTATATATATATATAT	NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	22/36			chr1	TogoVar
NBPF14_chr1_148526385_148601011	148583868	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02258.hp1 others(1): Show HG01884.hp2 HG02109.hp2 HG02258.hp1 HG02970.hp1	a0040 a0121 a0122 a0040 a0121 a0122	a0040c0154 a0040c0155 a0121c0151 others(1): Show a0040c0154 a0040c0155 a0121c0151 a0122c0156	a0040c0154t0003 a0040c0155t0003 a0121c0151t0001 others(1): Show a0040c0154t0003 a0040c0155t0003 a0121c0151t0001 a0122c0156t0003	a0040c0154t0003g0214 a0040c0155t0003g0216 a0121c0151t0001g0209 others(1): Show a0040c0154t0003g0214 a0040c0155t0003g0216 a0121c0151t0001g0209 a0122c0156t0003g0215	4	222	0.0180	15	c.158 others(32): Show c.1585+602_1585+603insTTTTTTTTTTTTTTT	NBPF14	ENSG00000270629.7	transcript	ENST00000619423.4	protein_coding	11/70			chr1	TogoVar
NBPF15_chr1_144416390_144466669	144463598	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0014 a0009c0008t0014	a0009c0008t0014g0025 a0009c0008t0014g0025	1	394	0.0025	15	c.-31 others(26): Show c.-3156_-3155insTTTTTTTTTTTTTTT	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding		1930		chr1	TogoVar
NBPF4_chr1_108217464_108249076	108231373	C C	CATTTACT others(8): Show CATTTACTGTGCACTT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0007 a0001c0017t0007	a0001c0017t0007g0027 a0001c0017t0007g0027	1	134	0.0075	15	c.142 others(32): Show c.1423+868_1423+882dupAAGTGCACAGTAAAT	NBPF4	ENSG00000196427.14	transcript	ENST00000415641.8	protein_coding	12/14			chr1	TogoVar
NBPF6_chr1_108445343_108476920	108452962	G G	GTTTGTAT others(8): Show GTTTGTATATAGTATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0034 a0003c0002t0002g0034	1	68	0.0147	15	c.279 others(30): Show c.279-218_279-217insTTGTATATAGTATAT	NBPF6	ENSG00000186086.19	transcript	ENST00000495380.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF9_chr1_149047186_149108551	149104202	G G	GTTATTAT others(8): Show GTTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02027.hp2 HG03834.hp1 others(8): Show HG00408.hp2 HG02027.hp2 HG03834.hp1 NA18942.hp2 NA18960.hp2 NA18981.hp1 NA19009.hp1 NA19058.hp1 NA19064.hp1 NA19079.hp1 NA19088.hp1	a0002 a0017 a0033 a0002 a0017 a0033	a0002c0002 a0002c0011 a0017c0017 others(1): Show a0002c0002 a0002c0011 a0017c0017 a0033c0030	a0002c0002t0001 a0002c0002t0035 a0002c0011t0001 others(2): Show a0002c0002t0001 a0002c0002t0035 a0002c0011t0001 a0017c0017t0001 a0033c0030t0001	a0002c0002t0001g0011 a0002c0002t0001g0182 a0002c0002t0001g0185 others(7): Show a0002c0002t0001g0011 a0002c0002t0001g0182 a0002c0002t0001g0185 a0002c0002t0001g0188 a0002c0002t0001g0224 a0002c0002t0035g0227 a0002c0002t0035g0237 a0002c0011t0001g0210 a0017c0017t0001g0217 a0033c0030t0001g0189	11	344	0.0320	15	c.-17 others(26): Show c.-1745_-1744insTAATAATAATAATAA	NBPF9	ENSG00000269713.9	transcript	ENST00000698832.1	protein_coding		652		chr1	TogoVar
NBR1_chr17_43166214_43216688	43184372	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	314	0.0032	15	c.208 others(32): Show c.208-1867_208-1866insCTTTTTTTTTTTTTT	NBR1	ENSG00000188554.15	transcript	ENST00000590996.6	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
NBR1_chr17_43166214_43216688	43184372	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp1 others(66): Show HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01257.hp1 HG01361.hp1 HG01517.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG06807.hp2 NA18906.hp2 NA18947.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp2 NA18969.hp2 NA18977.hp1 NA18983.hp1 NA18987.hp2 NA18992.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp1 NA19079.hp1 NA19081.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0013 a0001c0001t0001 a0002c0002t0002 a0002c0002t0013	a0001c0001t0001g0084 a0002c0002t0002g0005 a0002c0002t0002g0006 others(55): Show a0001c0001t0001g0084 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0034 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0264 a0002c0002t0013g0008	69	314	0.2198	15	c.208 others(32): Show c.208-1867_208-1866insTTTTTTTTTTTTTTT	NBR1	ENSG00000188554.15	transcript	ENST00000590996.6	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
NCALD_chr8_101681542_101795969	101703389	A A	ACAGGACA others(8): Show ACAGGACAGGTGGCAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG03225.hp1 others(1): Show HG02559.hp1 HG02717.hp2 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0285 a0001c0001t0010g0281 a0001c0001t0010g0282 others(1): Show a0001c0001t0007g0285 a0001c0001t0010g0281 a0001c0001t0010g0282 a0001c0001t0010g0288	4	300	0.0133	15	c.379 others(34): Show c.379-10508_379-10494dupCTGCCACCTGTCCTG	NCALD	ENSG00000104490.18	transcript	ENST00000220931.11	protein_coding	2/3			chr8	TogoVar
NCAM1_chr11_112956420_113283436	113009312	G G	GTTTTTTT others(8): Show GTTTTTTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0058 a0001c0008t0001g0058	1	242	0.0041	15	c.52+ others(32): Show c.52+47655_52+47656insGTTGTTGTTTTTTTT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113009312	G G	GTTTTTTT others(8): Show GTTTTTTTGTTGTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01952.hp1 others(13): Show HG00140.hp2 HG01175.hp2 HG01952.hp1 HG03491.hp2 HG03516.hp1 HG03942.hp1 NA18953.hp2 NA18978.hp2 NA18979.hp2 NA18995.hp2 NA19007.hp2 NA19011.hp1 NA19060.hp2 NA19063.hp2 NA19083.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0032 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 others(13): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0011g0145 a0001c0001t0012g0173 a0001c0001t0019g0175 a0001c0001t0032g0159 a0001c0002t0001g0165 a0001c0002t0001g0174 a0001c0002t0002g0151 a0001c0002t0003g0148 a0001c0002t0005g0143 a0001c0002t0005g0154 a0001c0002t0007g0161	16	242	0.0661	15	c.52+ others(32): Show c.52+47655_52+47656insGTTGTTTTTTTTTTT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113202344	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00423.hp1 HG00621.hp1 others(13): Show HG00408.hp2 HG00423.hp1 HG00621.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02273.hp2 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA19010.hp2 NA19070.hp1 NA19084.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0016 a0001c0001t0049 a0001c0001t0054 a0001c0002t0003 a0001c0014t0051	a0001c0001t0001g0030 a0001c0001t0001g0095 a0001c0001t0001g0167 others(13): Show a0001c0001t0001g0030 a0001c0001t0001g0095 a0001c0001t0001g0167 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0003g0075 a0001c0001t0013g0043 a0001c0001t0016g0241 a0001c0001t0049g0028 a0001c0001t0054g0044 a0001c0002t0003g0103 a0001c0014t0051g0029	16	242	0.0661	15	c.53- others(25): Show c.53-20_53-6dupGTTTTGTTTTGTTTT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113220600	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01952.hp1 HG02040.hp2 others(5): Show HG01167.hp1 HG01952.hp1 HG02040.hp2 NA18971.hp1 NA18978.hp2 NA18993.hp2 NA19000.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0021	a0001c0001t0001g0146 a0001c0001t0001g0167 a0001c0001t0002g0024 others(5): Show a0001c0001t0001g0146 a0001c0001t0001g0167 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0037 a0001c0001t0003g0140 a0001c0001t0009g0125 a0001c0001t0021g0227	8	242	0.0331	15	c.106 others(32): Show c.1060-695_1060-694insTTTTTTTTTTTTTTT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM1_chr11_112956420_113283436	113220602	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0173 a0001c0001t0012g0173	1	242	0.0041	15	c.106 others(32): Show c.1060-685_1060-671dupTTTTTTTTTTTTTTT	NCAM1	ENSG00000149294.18	transcript	ENST00000316851.12	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAM2_chr21_20993409_21548329	21052150	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0033 a0001c0001t0014g0033	1	132	0.0076	15	c.55+ others(32): Show c.55+53543_55+53557dupTTTTTTTTTTTTTTT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21106314	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG00673.hp2 others(11): Show HG00423.hp2 HG00639.hp2 HG00673.hp2 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG03041.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG03834.hp2 NA18998.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0007 others(4): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0002c0003 a0003c0005 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0004t0002 a0001c0007t0004 a0002c0002t0015 a0002c0003t0005 a0003c0005t0005 a0003c0006t0018	a0001c0001t0001g0043 a0001c0001t0003g0070 a0001c0001t0006g0067 others(11): Show a0001c0001t0001g0043 a0001c0001t0003g0070 a0001c0001t0006g0067 a0001c0001t0006g0104 a0001c0001t0016g0103 a0001c0001t0020g0131 a0001c0001t0022g0102 a0001c0001t0029g0061 a0001c0004t0002g0096 a0001c0007t0004g0106 a0002c0002t0015g0054 a0002c0003t0005g0008 a0003c0005t0005g0126 a0003c0006t0018g0016	14	132	0.1061	15	c.55+ others(34): Show c.55+107697_55+107711dupAAAAAAAAAAAAAAA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331545	C C	CATATATA others(8): Show CATATATATATACTCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19090.hp1 HG01346.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0037 a0002c0002t0001g0019 a0001c0001t0001g0037 a0002c0002t0001g0019	2	132	0.0152	15	c.738 others(32): Show c.738-3949_738-3948insCTCTATATATATATA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21394469	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03927.hp2 HG01346.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0007 a0001c0001t0002 a0001c0004t0007	a0001c0001t0002g0109 a0001c0004t0007g0077 a0001c0001t0002g0109 a0001c0004t0007g0077	2	132	0.0152	15	c.119 others(36): Show c.1196-15782_1196-15768dupTTTTTTTTTTTTTTT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21433742	C C	CAATAAAA others(8): Show CAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG01891.hp1 others(11): Show HG00639.hp2 HG00673.hp2 HG01891.hp1 HG02280.hp1 HG02630.hp2 HG02922.hp2 HG03209.hp2 HG03453.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp2 NA18979.hp1 NA18992.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(4): Show a0001c0001 a0001c0004 a0001c0007 a0001c0014 a0002c0002 a0002c0003 a0002c0010	a0001c0001t0003 a0001c0001t0006 a0001c0001t0029 others(11): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0029 a0001c0001t0032 a0001c0004t0002 a0001c0004t0007 a0001c0004t0018 a0001c0007t0004 a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0019 a0002c0003t0012 a0002c0010t0013	a0001c0001t0003g0117 a0001c0001t0006g0104 a0001c0001t0029g0061 others(11): Show a0001c0001t0003g0117 a0001c0001t0006g0104 a0001c0001t0029g0061 a0001c0001t0032g0125 a0001c0004t0002g0058 a0001c0004t0007g0077 a0001c0004t0018g0124 a0001c0007t0004g0106 a0001c0014t0001g0041 a0002c0002t0001g0080 a0002c0002t0002g0045 a0002c0002t0019g0034 a0002c0003t0012g0068 a0002c0010t0013g0011	14	132	0.1061	15	c.165 others(34): Show c.1654+1504_1654+1518dupTAAAATAAAATAAAA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21479583	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02615.hp2 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0004 a0002c0002t0010 a0001c0007t0004 a0002c0002t0010	a0001c0007t0004g0005 a0002c0002t0010g0092 a0001c0007t0004g0005 a0002c0002t0010g0092	2	132	0.0152	15	c.207 others(34): Show c.2077+2123_2077+2137dupAAAAAAAAAAAAAAA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21480366	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03041.hp1 HG03471.hp1 HG01891.hp2 HG03041.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0005 a0002c0003t0017 a0002c0003t0002 a0002c0003t0005 a0002c0003t0017	a0002c0003t0002g0128 a0002c0003t0005g0008 a0002c0003t0017g0091 a0002c0003t0002g0128 a0002c0003t0005g0008 a0002c0003t0017g0091	3	132	0.0227	15	c.207 others(34): Show c.2077+2902_2077+2916dupAAAAAAAAAAAAAAA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPD2_chr12_6489102_6536955	6513715	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01069.hp1 others(11): Show HG00099.hp2 HG00323.hp1 HG01069.hp1 HG01074.hp2 HG01255.hp1 HG01346.hp2 HG02622.hp2 HG02895.hp2 HG03491.hp1 HG03654.hp1 HG04184.hp1 NA19068.hp1 NA19081.hp2 NA20752.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0004 a0001c0007 a0004c0005 others(1): Show a0001c0004 a0001c0007 a0004c0005 a0011c0035	a0001c0004t0010 a0001c0007t0005 a0004c0005t0001 others(1): Show a0001c0004t0010 a0001c0007t0005 a0004c0005t0001 a0011c0035t0001	a0001c0004t0010g0272 a0001c0007t0005g0280 a0004c0005t0001g0015 others(10): Show a0001c0004t0010g0272 a0001c0007t0005g0280 a0004c0005t0001g0015 a0004c0005t0001g0241 a0004c0005t0001g0242 a0004c0005t0001g0244 a0004c0005t0001g0246 a0004c0005t0001g0247 a0004c0005t0001g0248 a0004c0005t0001g0251 a0004c0005t0001g0253 a0004c0005t0001g0256 a0011c0035t0001g0252	14	432	0.0324	15	c.588 others(30): Show c.588-546_588-532dupTTTTTTTTTTTTTTT	NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	6/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCAPD2_chr12_6489102_6536955	6518504	G G	GTTTTTGT others(8): Show GTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0384 a0001c0001t0003g0397 a0001c0001t0003g0384 a0001c0001t0003g0397	2	432	0.0046	15	c.158 others(32): Show c.1589+550_1589+551insGTTTTTTTTTTTTTT	NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCAPD2_chr12_6489102_6536955	6518505	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0006 a0009c0012t0006	a0009c0012t0006g0259 a0009c0012t0006g0259	1	432	0.0023	15	c.158 others(32): Show c.1589+560_1589+561insGTTTTTTTTTTTTTT	NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCAPD3_chr11_134145113_134228967	134212375	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18988.hp1 HG00544.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0055 a0001c0001t0002 a0001c0001t0055	a0001c0001t0002g0124 a0001c0001t0055g0123 a0001c0001t0002g0124 a0001c0001t0055g0123	2	370	0.0054	15	c.383 others(32): Show c.383-1922_383-1921insCACACACACACACAC	NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	3/34			chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158660401	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19085.hp1 HG02630.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0284 a0001c0001t0001g0010 a0001c0001t0001g0284	2	378	0.0053	15	c.198 others(34): Show c.1989+1778_1989+1792dupAAAAAAAAAAAAAAA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	16/27			chr7	TogoVar
NCCRP1_chr19_39191964_39206884	39192703	A A	AAATAATA others(8): Show AAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02970.hp2 NA18948.hp1 others(3): Show HG02027.hp2 HG02970.hp2 NA18948.hp1 NA18951.hp1 NA19065.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0004g0015 a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0004g0015	6	380	0.0158	15	c.-42 others(26): Show c.-4280_-4279insAATAATAATAATAAT	NCCRP1	ENSG00000188505.5	transcript	ENST00000339852.5	protein_coding		4260		chr19	TogoVar
NCF1_chr7_74769011_74794315	74770531	A A	ATTTATTT others(8): Show ATTTATTTTATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19012.hp2 NA19066.hp1 others(1): Show NA19004.hp2 NA19012.hp2 NA19066.hp1 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0106 a0001c0003t0001g0107 others(1): Show a0001c0003t0001g0031 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0108	4	330	0.0121	15	c.-35 others(26): Show c.-3501_-3500insTTTATTTTATTTTAT	NCF1	ENSG00000158517.16	transcript	ENST00000289473.11	protein_coding		3479		chr7	TogoVar
NCK1_chr3_136857208_136956606	136943492	G G	GAACCTTC others(8): Show GAACCTTCTGCACAGA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0127 a0004c0005t0008g0127	1	232	0.0043	15	c.227 others(32): Show c.227-2088_227-2074dupCCTTCTGCACAGAAA	NCK1	ENSG00000158092.7	transcript	ENST00000481752.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCK2_chr2_105739912_105899272	105744865	T T	TCGCCGCC others(8): Show TCGCCGCCGCCGCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA19068.hp1 HG00609.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0053 a0001c0001t0006g0005 a0001c0001t0006g0053	2	334	0.0060	15	c.-47 others(24): Show c.-474_-473insCGCCGCCGCCGCCGC	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding		46		chr2	TogoVar
NCK2_chr2_105739912_105899272	105865902	A A	ATATTATT others(8): Show ATATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01169.hp2 HG01346.hp2 others(18): Show HG01071.hp2 HG01169.hp2 HG01346.hp2 HG02074.hp1 HG02155.hp2 HG02293.hp2 HG02559.hp1 HG03831.hp2 NA18940.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18978.hp1 NA18980.hp2 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18999.hp1 NA19002.hp1 NA19058.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 a0001c0001t0033	a0001c0001t0001g0223 a0001c0001t0002g0107 a0001c0001t0002g0111 others(18): Show a0001c0001t0001g0223 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0150 a0001c0001t0002g0157 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0217 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0006g0028 a0001c0001t0006g0042 a0001c0001t0025g0132 a0001c0001t0033g0233	21	334	0.0629	15	c.226 others(34): Show c.226+10627_226+10641dupATTATTATTATTATT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCKAP1L_chr12_54492752_54553243	54498434	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	350	0.0029	15	c.102 others(30): Show c.102+543_102+544insGTGTGTGTGTGTGTG	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	1/30			chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506794	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	350	0.0029	15	c.307 others(32): Show c.307-1059_307-1058insTATATATATATATAT	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30			chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0062 a0002c0003t0062	a0002c0003t0062g0251 a0002c0003t0062g0251	1	350	0.0029	15	c.307 others(32): Show c.307-1056_307-1055insAAAAAAATATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03942.hp2 NA18954.hp2 HG03834.hp1 HG03942.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0004t0002 a0002c0003t0002 a0001c0001t0004 a0001c0004t0002 a0002c0003t0002	a0001c0001t0004g0184 a0001c0004t0002g0183 a0002c0003t0002g0096 a0001c0001t0004g0184 a0001c0004t0002g0183 a0002c0003t0002g0096	3	350	0.0086	15	c.307 others(32): Show c.307-1056_307-1055insAAAAATATATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02080.hp1 HG02273.hp2 others(7): Show HG01243.hp1 HG02080.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02735.hp2 NA18957.hp2 NA18979.hp2 NA18981.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0003 a0001c0001 a0001c0012 a0002c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0035 a0001c0001t0049 a0001c0012t0015 a0002c0003t0002 a0002c0003t0005 a0002c0003t0013	a0001c0001t0001g0056 a0001c0001t0008g0112 a0001c0001t0010g0196 others(7): Show a0001c0001t0001g0056 a0001c0001t0008g0112 a0001c0001t0010g0196 a0001c0001t0021g0058 a0001c0001t0035g0113 a0001c0001t0049g0195 a0001c0012t0015g0276 a0002c0003t0002g0067 a0002c0003t0005g0111 a0002c0003t0013g0066	10	350	0.0286	15	c.307 others(32): Show c.307-1056_307-1055insAAATATATATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01975.hp2 HG02273.hp1 others(7): Show HG01071.hp2 HG01975.hp2 HG02273.hp1 HG02896.hp1 HG03831.hp1 NA18944.hp2 NA18953.hp2 NA18983.hp2 NA19090.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0024 a0002c0003t0028	a0001c0001t0001g0034 a0001c0001t0001g0119 a0001c0001t0002g0098 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0119 a0001c0001t0002g0098 a0001c0001t0003g0212 a0001c0001t0004g0057 a0001c0001t0005g0069 a0001c0001t0008g0135 a0001c0001t0009g0245 a0001c0002t0024g0328 a0002c0003t0028g0118	10	350	0.0286	15	c.307 others(32): Show c.307-1056_307-1055insATATATATATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18953.hp1 NA18965.hp1 others(2): Show HG02698.hp1 NA18953.hp1 NA18965.hp1 NA18965.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0019	a0001c0001t0001g0022 a0001c0001t0001g0240 a0001c0001t0002g0230 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0240 a0001c0001t0002g0230 a0001c0001t0017g0229 a0001c0001t0019g0228	5	350	0.0143	15	c.307 others(32): Show c.307-1057_307-1056insTATATATATATATAT	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30			chr12	TogoVar
NCKAP5_chr2_132666788_133573463	132692108	G G	GATTTTAT others(8): Show GATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0010 a0006c0006t0001g0010	1	70	0.0143	15	c.571 others(36): Show c.5714-18818_5714-18804dupAAAATAAAATAAAAT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	19/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	132692154	A A	ATTTTATT others(8): Show ATTTTATTTTATTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp2 HG03453.hp2 HG02280.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0001g0053 a0001c0001t0004g0002 a0001c0001t0001g0015 a0001c0001t0001g0053 a0001c0001t0004g0002	3	70	0.0429	15	c.571 others(36): Show c.5714-18850_5714-18849insAAAAATAAAATAAAA	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	19/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	132755854	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02622.hp1 others(7): Show HG02257.hp2 HG02280.hp2 HG02622.hp1 HG02630.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0007 a0009 a0018	a0001c0001 a0002c0010 a0005c0007 others(4): Show a0001c0001 a0002c0010 a0005c0007 a0006c0014 a0007c0005 a0009c0023 a0018c0012	a0001c0001t0001 a0002c0010t0003 a0005c0007t0002 others(4): Show a0001c0001t0001 a0002c0010t0003 a0005c0007t0002 a0006c0014t0002 a0007c0005t0007 a0009c0023t0001 a0018c0012t0001	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0022 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0053 a0002c0010t0003g0018 a0005c0007t0002g0051 a0006c0014t0002g0045 a0007c0005t0007g0066 a0009c0023t0001g0032 a0018c0012t0001g0031	10	70	0.1429	15	c.512 others(36): Show c.5128+17947_5128+17961dupATTATTATTATTATT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	16/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	132874895	G G	GTTTATTT others(8): Show GTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20129.hp1 HG03453.hp1 NA20129.hp1	a0003 a0008 a0003 a0008	a0003c0004 a0008c0008 a0003c0004 a0008c0008	a0003c0004t0006 a0008c0008t0002 a0003c0004t0006 a0008c0008t0002	a0003c0004t0006g0005 a0008c0008t0002g0025 a0003c0004t0006g0005 a0008c0008t0002g0025	2	70	0.0286	15	c.648 others(32): Show c.648+3938_648+3952dupATAAAATAAAATAAA	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	9/19			chr2	TogoVar

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