Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(295): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTAAAAAAAAAAAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	214	0.0047	302	c.29 others(313): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTAA AAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(295): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02602.hp1 NA18944.hp1 others(2): Show HG02056.hp2 HG02602.hp1 NA18944.hp1 NA19065.hp1 NA19083.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 a0001c0001t0001 a0001c0001t0002 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0002g0002 a0006c0008t0001g0001 a0001c0001t0001g0001 a0001c0001t0002g0002 a0006c0008t0001g0001	5	218	0.0229	302	c.29 others(313): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding		2495		chr8	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGGGG others(295): Show GGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	302	0.0033	302	c.140 others(319): Show c.140+8304_140+8305insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(295): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGT GGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGG TCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGG TAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	150	0.0067	302	c.346 others(321): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACC CGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACC TCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCACC CGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCATTAC CCCACCCCACCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(295): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCCTTCCCCCTCCCCCTTC CCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCC TCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0017 a0001c0001t0019g0017	1	30	0.0333	302	c.433 others(319): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGGGGGAAGGGGGAGGG GAGGGGGAGGGGAGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGG GGAGGGGAGGGGGGAGGGGGAGGGGAGGGAGGGGGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(295): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTTCCC CTCCCCTCCCCTTCCCCTCCCCTCTCCCCTCCCCCTTCCCCTCCCCCTTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCC TCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0018 a0001c0001t0014g0018	1	30	0.0333	302	c.433 others(319): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGGAGGGGGAGGGGAGGG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTN5_chr19_48656407_48678017	48669348	C C	CCATCACC others(295): Show CCATCACCACCACCATCATCACCATCACCACCACCAACACCACCACCATC ACCATCATCACCACCATCACCACCACCATCACCATCACCACCATCATCAC CACCATCACCATCACCATCACCACCACCATCACCATCATCACCACCACCA TCACCATCACCACCACCATCACCATCGTCACCACTACCATCACCATCACA CCACCACCATCACCATCACCACCATCATCACCATCACCACCACCACCATC ACCATCACCACCACTACCATCACCACCACCATCACCATCATCACCACTAC CAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18944.hp1 NA18956.hp2 others(4): Show NA18939.hp1 NA18944.hp1 NA18956.hp2 NA18969.hp2 NA18975.hp1 NA18983.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	7	406	0.0172	302	c.631 others(319): Show c.631+1007_631+1008insATGGTAGTGGTGATGATGGTGATGGTGG TGGTGATGGTAGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGATGGTGGTGGTGTGATGGTGATGGTAGTGGTGACG ATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGGTGATGGT GGTGGTGATGGTGATGGTGATGGTGGTGATGATGGTGGTGATGGTGATGG TGGTGGTGATGGTGGTGATGATGGTGATGGTGGTGGTGTTGGTGGTGGTG ATGGTGATGATGGTGGTGGTGATG	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NTSR1_chr20_62703836_62767771	62755580	T T	TCCATCCT others(295): Show TCCATCCTCCCTCCCTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCA TCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCAT CCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCAT CCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCC TCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCC CTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(206): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0007 a0009	a0001c0001 a0001c0007 a0001c0012 others(5): Show a0001c0001 a0001c0007 a0001c0012 a0001c0016 a0005c0009 a0006c0013 a0007c0014 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0007t0003 a0001c0012t0007 a0001c0016t0002 a0005c0009t0001 a0006c0013t0007 a0007c0014t0001 a0009c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(195): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0014 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0266 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0003g0048 a0001c0001t0003g0061 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0004g0174 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0272 a0001c0001t0007g0034 a0001c0001t0007g0042 a0001c0001t0007g0045 a0001c0001t0007g0077 a0001c0001t0007g0181 a0001c0001t0007g0226 a0001c0001t0009g0026 a0001c0001t0009g0046 a0001c0001t0009g0051 a0001c0001t0009g0125 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0182 a0001c0001t0009g0203 a0001c0001t0011g0029 a0001c0001t0011g0178 a0001c0001t0011g0208 a0001c0001t0011g0209 a0001c0001t0013g0009 a0001c0001t0013g0074 a0001c0001t0019g0206 a0001c0001t0019g0207 a0001c0001t0021g0197 a0001c0001t0025g0124 a0001c0001t0029g0269 a0001c0001t0031g0210 a0001c0001t0035g0198 a0001c0001t0036g0105 a0001c0001t0037g0276 a0001c0001t0038g0037 a0001c0001t0039g0245 a0001c0001t0050g0038 a0001c0001t0051g0036 a0001c0001t0052g0166 a0001c0001t0053g0115 a0001c0001t0054g0235 a0001c0001t0057g0087 a0001c0001t0058g0229 a0001c0007t0003g0237 a0001c0007t0003g0238 a0001c0012t0007g0218 a0001c0016t0002g0211 a0005c0009t0001g0117 a0006c0013t0007g0059 a0007c0014t0001g0133 a0009c0011t0001g0028	209	292	0.7158	302	c.916 others(317): Show c.916+696_916+697insATCCTCCCTCCCTCCATCATCCCTCCCTCC CTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCAT CTATCCTCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTC TCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCC ATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCC ATCCCTCCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTC ATTCCATCCCTCCCTCCCTCCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62755580	T T	TCCATCCT others(295): Show TCCATCCTCCCTCCCTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCA TCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCAT CCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCAT CCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCTTCCC TCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCC CTC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18964.hp2 NA18986.hp1 others(4): Show NA18945.hp1 NA18964.hp2 NA18986.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0012 a0001c0001t0001g0239 a0001c0001t0001g0247 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0007g0139	7	90	0.0778	302	c.916 others(317): Show c.916+696_916+697insATCCTCCCTCCCTCCATCATCCCTCCCTCC CTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCAT CTATCCTCCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTC TCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCC ATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCC ATCCCTCCCTCCTTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTC ATTCCATCCCTCCCTCCCTCCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62755580	T T	TCCATCCT others(295): Show TCCATCCTCCCTCCCTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCA TCCCTCCCTCCCTCCCTCCATCCCTCCCTTCATCTATCCTGCCTCCCTCC CTCCCTCCATCCCTCATTCCATCCCTCCCTCTCTCCCTCCCTCCATCCAT CCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCCTCCCTCCAT CCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCC TCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCC CTC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	84	0.0119	302	c.916 others(317): Show c.916+696_916+697insATCCTCCCTCCCTCCATCATCCCTCCCTCC CTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCTCCCTTCAT CTATCCTGCCTCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCTC TCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCC ATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCC ATCCCTCCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTC ATTCCATCCCTCCCTCCCTCCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(295): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGACACCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	313	0.0032	302	c.-30 others(313): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGTCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(295): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03486.hp2 HG02451.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0006 a0001c0001t0001 a0003c0003t0006	a0001c0001t0001g0331 a0003c0003t0006g0050 a0001c0001t0001g0331 a0003c0003t0006g0050	2	314	0.0064	302	c.-30 others(313): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP62_chr19_49901825_49934504	49904460	G G	GGCACAGA others(295): Show GGCACAGAGCCTCCTGATTTAATGGAATCACTTGTGTTATTCAGAGTGGG GTGCTCAAGATCCTTTGGGGTATGGGAAGAAAATGCAGAACTTAAAATTT TTTTTTTGAGATGAAGTCTAACTTTGTTGCCCAGGCTGGAGTGCAGTGGC GCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCC TGAGTACCTGGGAGTTACAGGCACCCACCACCACGCCGGGCTAATTTTTG TATTATTTATTTACTTATTTGAGACGGAGTCACTCTTTTGCCCAGGCTGG AGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	414	0.0024	302	c.34 others(313): Show c.3477_*3778dupACTCCAGCCTGGGCAAAAGAGTGACTCCGTCTCA AATAAGTAAATAAATAATACAAAAATTAGCCCGGCGTGGTGGTGGGTGCC TGTAACTCCCAGGTACTCAGGAGAATCACTTGAACCTGGGAGGCGGAGGT TGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGTT AGACTTCATCTCAAAAAAAAAATTTTAAGTTCTGCATTTTCTTCCCATAC CCCAAAGGATCTTGAGCACCCCACTCTGAATAACACAAGTGATTCCATTA AATCAGGAGGCTCTGTGC	NUP62	ENSG00000213024.13	transcript	ENST00000352066.8	protein_coding		2364		chr19	TogoVar
ODF3_chr11_191761_205258	196140	T T	TGGGGGGG others(295): Show TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTT GGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGAGGACATGGGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGACC TTGGTGAGGAGGACCTGGTGAGGTGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGG ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01255.hp2 others(26): Show HG01074.hp2 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG02015.hp2 HG02615.hp1 HG02970.hp2 HG03209.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03831.hp2 HG04115.hp1 NA18939.hp2 NA18942.hp1 NA18946.hp1 NA18956.hp1 NA18982.hp2 NA18990.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp1 NA19068.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0003g0006 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0005g0006	29	263	0.1103	302	c.-91 others(311): Show c.-915_-914insGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGCGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGTGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGG ACCTGGTGAGGGGACA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		620		chr11	TogoVar
OPRL1_chr20_64075082_64105633	64088932	G G	GGAGGCCA others(295): Show GGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAAGGAGGCCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAG GGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAG AGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGGTCTGTGCAG AGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01169.hp2 others(21): Show HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG02559.hp2 HG02602.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0005t0006	a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0038 others(16): Show a0001c0001t0001g0052 a0001c0001t0002g0003 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0006g0004 a0001c0001t0011g0048 a0001c0001t0016g0009 a0001c0001t0020g0020 a0001c0001t0021g0015 a0001c0005t0006g0013	24	63	0.3810	302	c.-18 others(321): Show c.-184-3033_-184-3032insAGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGA AGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGC AGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGC AGGGAGGCCAGGGTCTGTGCAGAGTG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OSGIN1_chr16_83948240_83971332	83950471	A A	ACACGTAC others(295): Show ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTG GCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCAC ATACACACTGGCACACACGTACACACACATGCACACATGATCACATGTGC ACACATGCACATACATACCGGCACGTACACACATGCACACATGAACACAT GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	316	0.0032	302	c.-29 others(313): Show c.-2932_-2931insCACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACA TGTGCACACATGCACATACACACTGGCACACACGTACACACACATGCACA CATGATCACATGTGCACACATGCACATACATACCGGCACGTACACACATG CACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2768		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950471	A A	ACACGTAC others(295): Show ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTG GCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACGCACAT ACACACTGGCACACACGTACACACACATGCACACATGATCACATGTGCAC ACATGCACATACATACCGGCACACGTACACACATGCACACATGAACACAT GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00639.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0086 a0001c0001t0009g0087 a0001c0001t0001g0086 a0001c0001t0009g0087	2	317	0.0063	302	c.-29 others(313): Show c.-2932_-2931insCACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACA TGTGCACACGCACATACACACTGGCACACACGTACACACACATGCACACA TGATCACATGTGCACACATGCACATACATACCGGCACACGTACACACATG CACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2768		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950471	A A	ACACGTAC others(295): Show ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTG GCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACACGTACATGCACACATGAGCACGTGCACACATGCACAT ACACACTGGCACACACGTACACACACATGCACACATGATCACATGTGCAC ACATGCACATACATACCGGCACACGTACACACATGCACACATGAACACAT GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	316	0.0032	302	c.-29 others(313): Show c.-2932_-2931insCACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACG TGCACACATGCACATACACACTGGCACACACGTACACACACATGCACACA TGATCACATGTGCACACATGCACATACATACCGGCACACGTACACACATG CACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2768		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950471	A A	ACACGTAC others(295): Show ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTG GCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACACGTACATGCACACGAGCACATGTGCACACATGCACAT ACACACTGGCACACACGTACACACACATGCACACATGATCACATGTGCAC ACATGCACATACATACCGGCACACGTACACACATGCACACATGAACACAT GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	316	0.0032	302	c.-29 others(313): Show c.-2932_-2931insCACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACATGCACACGAGCACATG TGCACACATGCACATACACACTGGCACACACGTACACACACATGCACACA TGATCACATGTGCACACATGCACATACATACCGGCACACGTACACACATG CACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2768		chr16	TogoVar
PACS2_chr14_105309748_105403147	105349786	G G	GGAACTTC others(295): Show GGAACTTCCAGGAGCGTGTGGCTAATAGCAGGACCCCAAGAACTTCCAGG AGTGCGTGGCTAATGCAGGACCCGGAGAACTTCCAGGAGAGCGTGGCTAA TAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATGCAGGACCCCG AGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGG AGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTA ATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCC CGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0134 a0001c0001t0023g0134	1	208	0.0048	302	c.207 others(319): Show c.207+1440_207+1441insAGGAGAGCGTGGCTAATAGCAGGACCCC GAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAG GAGCGTGTGGCTAATAGCAGGACCCCAAGAACTTCCAGGAGTGCGTGGCT AATGCAGGACCCGGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCC CGAGAACTTCCAGGAGAGCGTGGCTAATGCAGGACCCCGAGAACTTCCAG GAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCT AATAGCAGGACCCCGAGAACTTCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(295): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGC ATATATATACATATATATGTGTGCATATATACATATATGTGTGCATATAT ATACATATATGTGTGCATATATATACATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0064 a0001c0001t0012g0064	1	40	0.0250	302	c.196 others(323): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GCATATATATACATATATATGTGTGCATATATACATATATGTGTGCATAT ATATACATATATGTGTGCATATATATACATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PANX2_chr22_50165731_50185295	50168433	T T	TTGAATAG others(295): Show TTGAATAGGTTATGTGAGAGGTGACTGGGTTATTTGGGAGGTGACTGGTT TATCTGGCAGTGACTGAGTTATCGGGTGAATAGGTTATGTGAGAGGTGAC CGGGTTATTTGGGAGGTGACTGGTTTATCTGGCAGTGACTGGGTTATCTG GGGTGAATAGGTTATGTGAGGGGTGCCCGGGTTATTTGGGGTGATTGTTT ATCTGGCAGTGACTGGGTTATCTGGGGTGAAAGGTTATGTGAGAGGTGAC TGGGTTATTTGGGAGGTGACTGGTTTATCTGGCAGTGACTGGGTTATCTG GGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02258.hp2 others(10): Show HG01243.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02886.hp1 HG03041.hp1 HG03098.hp1 HG03579.hp1 HG03688.hp2 NA18906.hp1 NA18970.hp1 NA18973.hp1 NA19001.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0004	a0001c0001t0026 a0001c0002t0001 a0001c0002t0008 others(4): Show a0001c0001t0026 a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0002t0022 a0001c0003t0001 a0004c0004t0008	a0001c0001t0026g0090 a0001c0002t0001g0103 a0001c0002t0008g0010 others(5): Show a0001c0001t0026g0090 a0001c0002t0001g0103 a0001c0002t0008g0010 a0001c0002t0010g0036 a0001c0002t0010g0104 a0001c0002t0022g0036 a0001c0003t0001g0036 a0004c0004t0008g0010	13	436	0.0298	302	c.-22 others(313): Show c.-2298_-2297insTGAATAGGTTATGTGAGAGGTGACTGGGTTATTT GGGAGGTGACTGGTTTATCTGGCAGTGACTGAGTTATCGGGTGAATAGGT TATGTGAGAGGTGACCGGGTTATTTGGGAGGTGACTGGTTTATCTGGCAG TGACTGGGTTATCTGGGGTGAATAGGTTATGTGAGGGGTGCCCGGGTTAT TTGGGGTGATTGTTTATCTGGCAGTGACTGGGTTATCTGGGGTGAAAGGT TATGTGAGAGGTGACTGGGTTATTTGGGAGGTGACTGGTTTATCTGGCAG TGACTGGGTTATCTGGGG	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		2297		chr22	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(295): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGTCTAGGCTGGGCACAG CGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCAGATC ACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACACTGGGAAACCCTG ACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACCTGTA ATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCCGGGAA GTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	39	0.0256	302	c.126 others(319): Show c.126-2151_126-2150insCACTTCCCGGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAGTGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAGTGGC ACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PAX1_chr20_21700664_21723481	21721572	T T	TATATATG others(295): Show TATATATGTATTACATATATAACATATATGTATTACATATATGTATTACA TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATGTAATACATATATAACATATATGTATTACATAT ATGTAATACATATATAACATATATGTATTACATATATGTAATACATATAT AAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	367	0.0027	302	c.70 others(313): Show c.7010_*7011insATATATGTATTACATATATAACATATATGTATTA CATATATGTATTACATATATAACATATATGTATTACATATATGTATTACA TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTAATACATATATAACAT ATATGTATTACATATATGTAATACATATATAACATATATGTATTACATAT ATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3092		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721572	T T	TATATATG others(295): Show TATATATGTATTACATATATAACATATATGTATTACATATATGTATTACA TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATGTATTACATATATAACATATATGTATTACATAT ATGTATTACATATATAACATATATGTATTACATATATGTATTACATATAT AAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0029 a0001c0005t0001g0029	1	367	0.0027	302	c.70 others(313): Show c.7010_*7011insATATATGTATTACATATATAACATATATGTATTA CATATATGTATTACATATATAACATATATGTATTACATATATGTATTACA TATATAACATATATGTATTACATATATGTATTACATATATAACATATATG TATTACATATATGTATTACATATATAACATATATGTATTACATATATGTA TTACATATATAACATATATGTATTACATATATGTATTACATATATAACAT ATATGTATTACATATATGTATTACATATATAACATATATGTATTACATAT ATGTATTACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3092		chr20	TogoVar
PCSK6_chr15_101298933_101494707	101311736	C C	CCCCTCAC others(295): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0106 a0001c0006t0001g0106	1	227	0.0044	302	c.269 others(321): Show c.2699+1639_2699+1640insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311761	C C	CCCCTCAC others(295): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19005.hp2 HG01496.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0073 a0001c0004t0001g0080 a0001c0004t0001g0073 a0001c0004t0001g0080	2	311	0.0064	302	c.269 others(321): Show c.2699+1614_2699+1615insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311836	C C	CACCCTCA others(295): Show CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03017.hp1 HG00639.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0133 a0001c0009t0001g0232 a0001c0003t0001g0133 a0001c0009t0001g0232	2	284	0.0070	302	c.269 others(321): Show c.2699+1539_2699+1540insGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493370	T T	TCCCTCCC others(295): Show TCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCC CCTCCCTCTCCCTTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCCT CCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCC CCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCTC CCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCC TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0262 a0001c0005t0001g0262	1	332	0.0030	302	c.-37 others(313): Show c.-3701_-3700insGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGG GGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGG GGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGG AGGGCAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGGAGGGGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3664		chr15	TogoVar
PDGFC_chr4_156755454_156976799	156825572	T T	TAAGAAGA others(295): Show TAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGAAGGAGAAGG AGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGGAGAAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	204	0.0049	302	c.315 others(321): Show c.315-14556_315-14555insCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTCCTTC TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTTCTCCTTCTCCTTCTTCTCCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDPN_chr1_13578832_13622957	13588980	A A	AGCGCTAC others(295): Show AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGCGCTACTATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAAT AGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA20805.hp1 HG03490.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0011 a0001c0005t0041 a0001c0001t0011 a0001c0005t0041	a0001c0001t0011g0202 a0001c0005t0041g0213 a0001c0001t0011g0202 a0001c0005t0041g0213	2	248	0.0081	302	c.67+ others(317): Show c.67+4882_67+4883insGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGCGCTACTATTCAATAAATTGAATAGCGCTAC TATTCAATAAATTGAATAGTGC	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACTAG others(295): Show TAGACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAGACTAG ACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTA TAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACACTA GACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGA CTAGACACTAGACTAGACTATAGACTAGACTATAGACTAGACTATACTAC ACTACACTACACTACACTACACTACACTACACTAACTAAACACACAACAC TAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01123.hp2 others(45): Show HG00099.hp2 HG00738.hp2 HG01123.hp2 HG01928.hp2 HG02074.hp2 HG02109.hp1 HG02135.hp1 HG02886.hp2 HG03139.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18945.hp2 NA18948.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp2 NA18972.hp2 NA18992.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19059.hp1 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0010 a0001c0005t0001 a0001c0001t0001 a0001c0001t0010 a0001c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(35): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0010g0222 a0001c0001t0010g0268 a0001c0005t0001g0011	48	314	0.1529	302	c.847 others(317): Show c.847-209_847-208insGACTAGACGACTAGACTAGACTCTAGACTA GACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACT AGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAG ACTATAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGAC ACTAGACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACTA TAGACTAGACTATACTACACTACACTACACTACACTACACTACACTACAC TAACTAAACACACAACACTAAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACTAG others(295): Show TAGACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAGACTAG ACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTA TAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACACTA GACTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGA CACTAGACTAGACTATAGACTAGACTATAGACTAGACTATACTACACTAC ACTACACTACACTACACTACACTACACTACACTAACTAAACACACAACAC TAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	267	0.0037	302	c.847 others(317): Show c.847-209_847-208insGACTAGACGACTAGACTAGACTCTAGACTA GACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACT AGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAG ACTATAGACTAGACACTAGACTATAGACTAGACACTAGACTAGACACTAG ACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACTATAGAC TAGACTATACTACACTACACTACACTACACTACACTACACTACACTACAC TAACTAAACACACAACACTAAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACTAG others(295): Show TAGACTAGACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAG ACTAGACACTAGACTAGACTAGACACTAGACTAGACACTAGACTAGACTA TAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACACTA GACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGA CTAGACACTAGACTAGACTATAGACTAGACTATAGACTAGACTATACTAC ACTACACTACACTACACTACACTACACTACACTAACTAAACACACAACAC TAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG01192.hp2 others(2): Show HG00642.hp2 HG01099.hp1 HG01192.hp2 HG01255.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0052 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0052	5	271	0.0185	302	c.847 others(317): Show c.847-209_847-208insGACTAGACTAGACGACTAGACTAGACTCTA GACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACT AGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAG ACTATAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGAC ACTAGACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACTA TAGACTAGACTATACTACACTACACTACACTACACTACACTACACTACAC TAACTAAACACACAACACTAAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(295): Show ATTTTTTTTTTTCTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGACTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGC CACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCGCCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT TTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0128 a0001c0003t0004g0128	1	95	0.0105	302	c.-38 others(321): Show c.-38-11581_-38-11580insCTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGACTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACT ACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTG ATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(295): Show ATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGC CACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT TTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG03225.hp1 others(1): Show HG02451.hp1 HG02615.hp1 HG03225.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0091 a0001c0005t0007g0092 a0001c0005t0007g0120 others(1): Show a0001c0005t0007g0091 a0001c0005t0007g0092 a0001c0005t0007g0120 a0001c0005t0007g0154	4	98	0.0408	302	c.-38 others(321): Show c.-38-11576_-38-11575insGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGG CGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(295): Show ATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGC CACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCGCCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT TTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01884.hp2 others(9): Show HG01069.hp2 HG01071.hp1 HG01884.hp2 HG02257.hp1 HG02559.hp2 HG02723.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0001c0003t0006 a0001c0003t0015 others(1): Show a0001c0003t0004 a0001c0003t0006 a0001c0003t0015 a0002c0002t0003	a0001c0003t0004g0222 a0001c0003t0004g0225 a0001c0003t0004g0226 others(9): Show a0001c0003t0004g0222 a0001c0003t0004g0225 a0001c0003t0004g0226 a0001c0003t0004g0227 a0001c0003t0006g0127 a0001c0003t0006g0130 a0001c0003t0006g0131 a0001c0003t0006g0147 a0001c0003t0015g0141 a0001c0003t0015g0220 a0002c0002t0003g0136 a0002c0002t0003g0139	12	106	0.1132	302	c.-38 others(321): Show c.-38-11576_-38-11575insGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGG CGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCTGGATGGTCTCGGTCTCCTGACCTCGTGATCCG CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTTTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP3_chr11_389209_409908	401887	C C	CCCCGCTC others(295): Show CCCCGCTCACACCCGCCCCGCTCACACGCCGACCCGCTCACACCCCGACC CGCTCACCCCCGACCCGCTCACCCCCCGACCCGCTCACCCCCAGCCCCGC TCACCCCCGACCCGCTCACCCCCGGACCCCGCTCACACCGGACCCCGCTC ACACCCGGCCCCGCTCACACACCCGACCCGCTCACCCCCGACCCGCTCAC CCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCCGCTCACACCCGGCCCCCGCTCACACCCGACCCGCTCACCACC CGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0143 a0001c0003t0001g0143	1	191	0.0052	302	c.173 others(321): Show c.1738-1182_1738-1181insACCCGCCCCGCTCACACGCCGACCCG CTCACACCCCGACCCGCTCACCCCCGACCCGCTCACCCCCCGACCCGCTC ACCCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCCGGACCCCGCTCAC ACCGGACCCCGCTCACACCCGGCCCCGCTCACACACCCGACCCGCTCACC CCCGACCCGCTCACCCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCC GCCCCGCTCACACCCGGCCCCCGCTCACACCCGGCCCCCGCTCACACCCG ACCCGCTCACCACCCGACCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCXD1_chrX_276381_308356	280976	G G	GAAGGGAG others(295): Show GAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGA CGTGCAGGGGGAGGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGG GCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGG CCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGG GGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAG ACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGG GGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02615.hp2 HG02723.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0008 a0001c0003 a0007c0008	a0001c0003t0051 a0007c0008t0073 a0001c0003t0051 a0007c0008t0073	a0001c0003t0051g0076 a0007c0008t0073g0073 a0001c0003t0051g0076 a0007c0008t0073g0073	2	173	0.0116	302	c.-73 others(311): Show c.-730_-729insAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAG GCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGCGGAGGGGG GTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCA GGGGGAAGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGG GGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCA GGCAGAGGGGAAGACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGG GGTACGTGCAGGGGGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		404		chrX	TogoVar
PPP6R2_chr22_50338327_50450090	50396195	C C	CAAAAAAA others(295): Show CAAAAAAAAAAAAAAAAAAAAAGCCGGGTGTGATGGCTCACACCTGTAAT CCCAACACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGTTCG AGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTAATAAAAATACAAA AATTAGCAGGGCGTAGTGGCGCACGCCTGTAATCTCAGCTACTCCGGGAG GCTGAAGCAGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGC TGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGGC TCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0338 a0001c0008t0003g0338	1	202	0.0050	302	c.227 others(319): Show c.227+2080_227+2081insAGCCGGGTGTGATGGCTCACACCTGTAA TCCCAACACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGTTC GAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTAATAAAAATACAA AAATTAGCAGGGCGTAGTGGCGCACGCCTGTAATCTCAGCTACTCCGGGA GGCTGAAGCAGGAGAATGGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAG CTGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGG CTCAAAAAAAAAAAAAAAAAAAAA	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRR12_chr19_49586182_49631439	49624328	G G	GTGGGTGG others(295): Show GTGGGTGGTTAGGATGGGGCCAGGAATTCTGGGGTAGGTGGTTAGGATGA GACCGAGAATTCTGGGGTAGGTGGTTAGGATGGGACTGAGAATTCTGAGG TAGGTGGTTAGGATGGGGCCAAGAATTCTGGGGTAGGTGGTTAGGATGGG ACCGAGAATTCTGGGGTAGGTGGTTAGGATGGGACCGAGAATTCTGGGGT AGGTGGTTACGATGGGGCTGAGAATTCTGGGATAGGATAGGTGGTTAGGA TGAGACTGAGAATTCTGGGGTAGGTGGTTAGGATGGGGCCGAGCATTCAG GGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02809.hp2 HG01884.hp1 HG02109.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0117 a0001c0002t0008g0118 a0001c0002t0008g0119 a0001c0002t0008g0117 a0001c0002t0008g0118 a0001c0002t0008g0119	3	319	0.0094	302	c.572 others(319): Show c.5722-515_5722-514insGGGTGGTTAGGATGGGGCCAGGAATTCT GGGGTAGGTGGTTAGGATGAGACCGAGAATTCTGGGGTAGGTGGTTAGGA TGGGACTGAGAATTCTGAGGTAGGTGGTTAGGATGGGGCCAAGAATTCTG GGGTAGGTGGTTAGGATGGGACCGAGAATTCTGGGGTAGGTGGTTAGGAT GGGACCGAGAATTCTGGGGTAGGTGGTTACGATGGGGCTGAGAATTCTGG GATAGGATAGGTGGTTAGGATGAGACTGAGAATTCTGGGGTAGGTGGTTA GGATGGGGCCGAGCATTCAGGGAT	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PTK6_chr20_63523001_63542376	63535771	C C	CCTCACCT others(295): Show CCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTC ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCACCCCGTCCTCACCT GGCCTCCCGCACCCCCCTCACCTGGCCTCCCGCCCCCCCCCTCATCTGGC CTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCTCCTGGCCTCC CGCCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCG CCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCC CCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0233 a0001c0002t0014g0233	1	340	0.0029	302	c.231 others(317): Show c.231-713_231-712insAGGGGGCGGGAGGCCAGGTGAGGGGGGGGG CGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGG AGGCCAGGTGAGGGGGGGGGGCGGGAGGCCAGGAGAGGAGGGGGCGGGAG GCCAGGTGAGGAGGGGGCGGGAGGCCAGATGAGGGGGGGGGCGGGAGGCC AGGTGAGGGGGGTGCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCCAGGT GAGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGG AGGGGGCGGGAGGCCAGGTGAG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK6_chr20_63523001_63542376	63535799	A A	ACCTGGCC others(295): Show ACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCT GGCCTCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCC TCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCC GCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCC CCCTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCC CCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCC TCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0062 a0001c0003t0004g0062	1	342	0.0029	302	c.231 others(317): Show c.231-741_231-740insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGGTGAGGGGGGGGGGCGGGAGGCCAGGTGAGGAGGG GGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGC GGGAGGCCAGGAGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGA GGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTGCGGGAGGCC AGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGGGAGGCCAGGT GAGGAGGGGGCGGGAGGCCAGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
RASA3_chr13_113972783_114137623	114120337	G G	GCCAGGCG others(295): Show GCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAG GGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTC CAGCCAGGCGTCGATCAAGTCCCCCCCTTCTCTCCAGCCAGGCGTCGATC AGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTC TCCAGCCAGGCGTCGATCAGGGCCCCTCCCTCTCTCCAGCCAGGCGTCGA TCAAGTCCCCCCCTTCTCTCCAGCCAGGCGTCGATCAGGGCCCCTCCCTC TCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	47	0.0213	302	c.55+ others(319): Show c.55+12097_55+12098insAGAGAGGGAGGGGCCCTGATCGACGCCT GGCTGGAGAGAAGGGGGGGACTTGATCGACGCCTGGCTGGAGAGAGGGAG GGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGC CTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAAGG GGGGGACTTGATCGACGCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGAC GCCTGGCTGGAGAGAGGGAGGGGCCCTGATCGACGCCTGGCTGGAGAGAG GGAGGGGCCCTGATCGACGCCTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(295): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCT GGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTC AAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGCATGT GGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGC CATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCACCCGC CTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02976.hp2 HG02622.hp1 HG02647.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0047 a0001c0003t0006 a0001c0003t0074 a0001c0002t0047 a0001c0003t0006 a0001c0003t0074	a0001c0002t0047g0106 a0001c0003t0006g0233 a0001c0003t0074g0231 a0001c0002t0047g0106 a0001c0003t0006g0233 a0001c0003t0074g0231	3	35	0.0857	302	c.67- others(317): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATGCAAT CTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTC AGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGGCTAA TTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGCTGGT CTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(295): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTG AGT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0067 a0003c0003t0001g0067	1	199	0.0050	302	c.205 others(314): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCCTCC TCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGC CGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCA CCGCCCACGCCGACCCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP6_chr19_1486181_1502927	1500842	A A	AGGGAGGA others(295): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAG GGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGA GGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGAAGGGGAGGGGGAGGAGGGGGGAGGGGGGGAGGAG GGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG01884.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0113 a0001c0001t0002g0055 a0001c0001t0002g0113	2	287	0.0070	302	c.36 others(313): Show c.3631_*3632insGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGG AGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAG GAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGAGGGGGAGGAGGGG GGAGGGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGC GGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGAGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2916		chr19	TogoVar
RIMS2_chr8_103495610_104259430	103840433	T T	TGGTAATT others(295): Show TGGTAATTCATTTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0172 a0003c0006t0007g0172	1	164	0.0061	302	c.831 others(321): Show c.831-44848_831-44847insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGGGTAATTCATTTATTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103840433	T T	TGGTAATT others(295): Show TGGTAATTCATTTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0147 a0003c0006t0003g0147	1	164	0.0061	302	c.831 others(321): Show c.831-44848_831-44847insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGGGTAATTCATTTATTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIOK2_chr5_97155867_97188247	97180004	T T	TAATATAT others(295): Show TAATATATATATAAAATATATATATATAATATATATATATAAAATATATA TATATAATATATATATAAAATATATATATATAATATATATATATAAAATA TATATATATAATATATATATATAAAATATATATATAAAATATATATATAT AATATATATATATAAAATATATATATAAAATATATATATATAATATATAT ATAAAATATATATATATAATATATATATATAAAATATATATAAAATATAT ATATAATATATATATAAAATATATATATAATATATATATAATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	240	0.0042	302	c.67- others(315): Show c.67-812_67-811insTATATATATATATTATATATATATTATATATA TATTTTATATATATATTATATATATATTTTATATATATTTTATATATATA TATTATATATATATATTTTATATATATATTATATATATATATTTTATATA TATATTTTATATATATATATTATATATATATATTTTATATATATATTTTA TATATATATATTATATATATATATTTTATATATATATATTATATATATAT ATTTTATATATATATTATATATATATATTTTATATATATATATTATATAT ATATATTTTATATATATATT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar

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