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
PDCD6_chr5_266646_319974	309607	C C	CCCAGTGA others(217): Show CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCA GTGAGGGCCGCCGTCCCCGTGCACA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	360	0.0028	224	c.368 others(241): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309607	C C	CCCAGTGA others(217): Show CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGG GCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCA GTGATGGCCGCCGTCCCCGTGCACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00597.hp2 others(77): Show HG00099.hp2 HG00140.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18950.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19076.hp1 NA19083.hp2 NA19085.hp1 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(74): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0336 a0001c0001t0006g0204 a0001c0001t0006g0221 a0001c0001t0006g0229	80	360	0.2222	224	c.368 others(241): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309615	T T	TGGCCGCC others(217): Show TGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGT GCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGT CCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATGGC CGCCGTCCCCGTGCACCCCAGTGAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp2 NA18965.hp2 others(3): Show HG02015.hp2 HG02132.hp2 NA18965.hp2 NA18970.hp2 NA18983.hp2 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0284 a0002c0003t0001g0300 a0002c0003t0001g0301 others(3): Show a0002c0003t0001g0284 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0304	6	360	0.0167	224	c.368 others(241): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATG GCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	309615	T T	TGGCCGCC others(217): Show TGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCC CAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGT GCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGT CCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGC CGCCGTCCCCGTGCACACCAGTGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20129.hp1 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0337 a0001c0001t0001g0189 a0001c0001t0001g0337	2	360	0.0056	224	c.368 others(241): Show c.368-1659_368-1658insCCCAGTGATGGCCGCCGTCCCCGTGCAC CCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCC GTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGTGCAC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE11A_chr2_177618244_178077777	177811517	T T	TAGTCACT others(217): Show TAGTCACTCCAATTTTTTTTTTCTTTTTTTTTTATTATACTTTAAGTTTT AGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCC ATGCTGGTGCGCTGCACCCACTAACTCATCATCTAGCATTAGGTATGTCT CCCAATGCTACCCCTCCCCCCTCCCCCCTCCCCCCACCCCACCACAGTCC CCAGAGTGTGATATTCCCCTTCCTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0014 a0001c0017t0002g0014	1	170	0.0059	224	c.173 others(243): Show c.1737+5311_1737+5312insCAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTGGGGGGAGGGGGGAGGGGGGAGGGGTAGCATTGGGA GACATACCTAATGCTAGATGATGAGTTAGTGGGTGCAGCGCACCAGCATG GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTA AAACTTAAAGTATAATAAAAAAAAAAGAAAAAAAAAATTGGAGTGACT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	9/19			chr2	TogoVar
PDE4DIP_chr1_148839428_149038016	149023587	C C	CATATATG others(217): Show CATATATGTACATGTATATGTGCGCACATATATATGTACATGTATATGTG CGCACATATATATGTACATGTATATGTGCGCACATATATATGTACATGTA TATGTGCGCACATATATATGTACATGTATATGTGCGCACATATATATGTA CATGTATATGTGCGCACATATATATGTACATGTATATGTGCGCACATATA TATGTACATGTATATGTGCGCACAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01891.hp2 HG03491.hp2 HG01258.hp1 HG01891.hp2 HG03491.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0017 a0008c0018 a0001c0001 a0006c0017 a0008c0018	a0001c0001t0006 a0006c0017t0013 a0008c0018t0012 a0001c0001t0006 a0006c0017t0013 a0008c0018t0012	a0001c0001t0006g0003 a0006c0017t0013g0024 a0008c0018t0012g0023 a0001c0001t0006g0003 a0006c0017t0013g0024 a0008c0018t0012g0023	3	24	0.1250	224	c.628 others(241): Show c.6284-837_6284-836insCGCACATATATATGTACATGTATATGTG CGCACATATATATGTACATGTATATGTGCGCACATATATATGTACATGTA TATGTGCGCACATATATATGTACATGTATATGTGCGCACATATATATGTA CATGTATATGTGCGCACATATATATGTACATGTATATGTGCGCACATATA TATGTACATGTATATGTGCGCACATATATATGTACATGTATATGTG	PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4DIP_chr1_148839428_149038016	149023587	C C	CATATATG others(217): Show CATATATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTG TGCACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTA TATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTA CATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATA TATGTACATGTATATGTGTGCACAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0007 a0001c0004t0003g0007	1	24	0.0417	224	c.628 others(241): Show c.6284-667_6284-666insCACATATATATGTACATGTATATGTGTG CACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTATA TGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTACA TGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATA TGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTG	PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4D_chr5_58964038_59898726	59434007	T T	TTCTTTAG others(217): Show TTCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGA AGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCC TAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCTTTAGGA TGTTCCTAAAGAAGTCTCATCTTTAGGATGTTCCTAAAGAAGTCTCATCT TTAGGATGTTCCTAAAGAAGTCTCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA21309.hp1 HG02258.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0014 a0001c0001t0017 a0001c0002t0014	a0001c0001t0017g0002 a0001c0002t0014g0026 a0001c0001t0017g0002 a0001c0002t0014g0026	2	74	0.0270	224	c.456 others(245): Show c.456-218263_456-218040dupTGAGACTTCTTTAGGAACATCCTA AAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGAAC ATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGACTTCTTT AGGAACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGATGAGAC TTCTTTAGGAACATCCTAAAGATGAGACTTCTTTAGGAACATCCTAAAGA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14			chr5	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(217): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGG GAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAAG GGAAAGGGAAAGGGGAAGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 NA19063.hp2 HG03669.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	396	0.0051	224	c.-48 others(235): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAA GGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGG AAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(217): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGG GAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAAG GGAAAGGGAAAGGGGAAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	396	0.0025	224	c.-48 others(235): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAA GGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGG AAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(217): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGG GGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAA GGGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02055.hp1 NA18994.hp1 others(1): Show HG01928.hp2 HG02055.hp1 NA18994.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0002 a0001c0002t0002g0004 a0001c0002t0002g0040 a0001c0001t0001g0002 a0001c0002t0002g0004 a0001c0002t0002g0040	4	396	0.0101	224	c.-48 others(235): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAA GGGAAGGGGGAGGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGG GAAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(217): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGGAGGG GGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAA GGGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	396	0.0025	224	c.-48 others(235): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAA GGGAAGGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGG GAAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(217): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGGAGGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGG GGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAA GGGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	396	0.0025	224	c.-48 others(235): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGGAGGGGGGAGGAGAAGTGGGAGAGGAAGGGGA AGGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGG GAAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(217): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGG GGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAA GGGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA19077.hp1 HG02523.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0010 a0001c0001t0001g0001 a0001c0002t0002g0010	2	396	0.0051	224	c.-48 others(235): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGA AGGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGG GAAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(217): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGGAGGGGGAGGGGAAGGGAAGGGAA GGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGG GGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAA GGGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG02572.hp2 HG03209.hp1 HG01169.hp1 HG02572.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0054 a0001c0001t0004g0009 a0001c0001t0005g0002 a0001c0001t0001g0054 a0001c0001t0004g0009 a0001c0001t0005g0002	3	396	0.0076	224	c.-48 others(235): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGGAGGGGGAG GGGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGA AGGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGG GAAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(217): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAA GGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGG GGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAA GGGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	224	c.-48 others(235): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAG GGGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGA AGGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGG GAAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PHIP_chr6_78929419_79083254	79014067	T T	TTACAAAC others(217): Show TTACAAACCTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01346.hp2 others(30): Show HG00099.hp2 HG01070.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02027.hp2 HG02074.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02486.hp1 HG02523.hp1 HG02683.hp1 HG02886.hp1 HG02895.hp2 HG03195.hp2 HG03209.hp1 HG03540.hp2 HG04199.hp2 HG04228.hp2 NA18943.hp1 NA18950.hp2 NA18960.hp2 NA18964.hp2 NA18975.hp1 NA18977.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA19060.hp1 NA19240.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0003 a0001c0006 a0003c0003	a0001c0006t0002 a0001c0006t0009 a0003c0003t0002 others(3): Show a0001c0006t0002 a0001c0006t0009 a0003c0003t0002 a0003c0003t0009 a0003c0003t0031 a0003c0003t0061	a0001c0006t0002g0014 a0001c0006t0002g0267 a0001c0006t0002g0269 others(26): Show a0001c0006t0002g0014 a0001c0006t0002g0267 a0001c0006t0002g0269 a0001c0006t0002g0270 a0001c0006t0009g0266 a0001c0006t0009g0297 a0003c0003t0002g0002 a0003c0003t0002g0015 a0003c0003t0002g0274 a0003c0003t0002g0278 a0003c0003t0002g0281 a0003c0003t0002g0282 a0003c0003t0002g0284 a0003c0003t0002g0285 a0003c0003t0002g0286 a0003c0003t0002g0287 a0003c0003t0002g0289 a0003c0003t0002g0290 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0294 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0009g0272 a0003c0003t0009g0276 a0003c0003t0009g0277 a0003c0003t0031g0273 a0003c0003t0031g0293 a0003c0003t0061g0283	33	318	0.1038	224	c.152 others(243): Show c.1524+1014_1524+1015insCGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAGGTTTGTA	PHIP	ENSG00000146247.15	transcript	ENST00000275034.5	protein_coding	15/39			chr6	TogoVar
PHIP_chr6_78929419_79083254	79014067	T T	TTACAAAC others(217): Show TTACAAACCTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp1 HG01261.hp2 HG00735.hp1 HG01255.hp1 HG01261.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0060 a0003c0003t0002 a0003c0003t0060	a0003c0003t0002g0279 a0003c0003t0002g0288 a0003c0003t0060g0280 a0003c0003t0002g0279 a0003c0003t0002g0288 a0003c0003t0060g0280	3	318	0.0094	224	c.152 others(243): Show c.1524+1014_1524+1015insCGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAGGTTTGTA	PHIP	ENSG00000146247.15	transcript	ENST00000275034.5	protein_coding	15/39			chr6	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(217): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18964.hp2 HG04228.hp1 NA18964.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0083 a0003c0003t0002g0104 a0003c0003t0002g0083 a0003c0003t0002g0104	2	346	0.0058	224	c.200 others(243): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKD1_chr16_2083708_2140898	2091266	G G	GGGGGCGG others(217): Show GGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGC GAGGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCT GCGAGGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACG CTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGA CGCTGCGAGGGGGCGGGACGCTGCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0011 a0014c0015t0011	a0014c0015t0011g0200 a0014c0015t0011g0200	1	216	0.0046	224	c.117 others(241): Show c.11713-93_11713-92insGGCAGCGTCCCGCCCCCTCGCAGCGTCC CGCCCCCTCGCAGCGTCCCGCCCCCTCGCAGCGCCCCGCCCCGGCAGCGT CCCGCCCCCTCGCAGCGCCCCGCCCCGGCAGCGTCCCGCCCCCTCGCAGG GCCCCGCCCCGGCAGCGTCCCGCCCCCTCGCAGCGCCCCGCCCCCTCGCA GCGTCCCGCCCCCTCGCAGCGCCCCGCCCCGGCAGCGTCCCGCCCC	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	42/45			chr16	TogoVar
PKD1_chr16_2083708_2140898	2091266	G G	GGGGGCGG others(217): Show GGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGC GAGGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGCCGGGGCGGGGCCCT GCGAGGGGGCGGGACGCTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACG CTGCCGGGGCGGGGCGCTGCGAGGGGGCGGGACGCTGCGAGGGGGCGGGG CGCTGCGAGGGGGCGGGACGCTGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03486.hp2 HG02970.hp2 HG03486.hp2	a0014 a0045 a0014 a0045	a0014c0015 a0045c0046 a0014c0015 a0045c0046	a0014c0015t0011 a0045c0046t0011 a0014c0015t0011 a0045c0046t0011	a0014c0015t0011g0199 a0045c0046t0011g0201 a0014c0015t0011g0199 a0045c0046t0011g0201	2	216	0.0093	224	c.117 others(241): Show c.11713-93_11713-92insGGCAGCGTCCCGCCCCCTCGCAGCGCCC CGCCCCCTCGCAGCGTCCCGCCCCCTCGCAGCGCCCCGCCCCGGCAGCGT CCCGCCCCCTCGCAGCGCCCCGCCCCGGCAGCGTCCCGCCCCCTCGCAGG GCCCCGCCCCGGCAGCGTCCCGCCCCCTCGCAGCGCCCCGCCCCCTCGCA GCGTCCCGCCCCCTCGCAGCGCCCCGCCCCGGCAGCGTCCCGCCCC	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	42/45			chr16	TogoVar
PKP3_chr11_389209_409908	401948	G G	GCCCCGCT others(217): Show GCCCCGCTCACACCCGACCCGCTCACCCGCCGACCCGCTCACCCCCGACC CGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTC ACCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGACCCCGCTCA CACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCG GGCCCCGCTCACACCCGCCCCGCTC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0023 a0001c0010t0001g0023	1	216	0.0046	224	c.173 others(243): Show c.1738-1130_1738-1129insCCCCGCTCACACCCGACCCGCTCACC CGCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAG CCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTCACACCGGACCC CGCTCACACCCGGACCCCGCTCACACCCGACCCGCTCACCCCCGACCCGC TCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLCXD1_chrX_276381_308356	283536	G G	GTGGTGTC others(217): Show GTGGTGTCAGGCCCGGGTGGGGGCGGCCGTGGTGTCAGGCCCGGGTGGGG GCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCGTGGTGCCAGGCCCGG GTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAG GCACGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGCGGCCGTGG TGTCAGGCCCGGGTGGGGGCGGCCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0007 a0001c0001t0017g0007	2	176	0.0114	224	c.-21 others(239): Show c.-21-604_-21-603insGTGGTGTCAGGCCCGGGTGGGGGCGGCCTT GGTGTCAGGCCCGGGTGGGGGCGGCCGTGGTGCCAGGCCCGGGTGGGGGC GGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCCTTGGTGTCAGGCACGGGT GGGGGCGGCCTTGGTGTCAGGCACGGGTGGGGGCGGCCGTGGTGTCAGGC CCGGGTGGGGGCGGCCTTGGTGTCAGGCCCGGGTGGGGGCGGCC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLEKHG4B_chr5_87168_194966	164952	A A	ACACACTA others(217): Show ACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGG CAGGGCTCACAGTAATGCTCTGACAGGGCGGAGCTCACACTAATGCTCTG ACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAAT GCTCTGACGGGGCAGGGCTCACAGTAATGCTCTGACAGGGCGGAGCTCAC ACTAATGCTCTGACGGGGCGGAGCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0036 a0036	a0036c0053 a0036c0053	a0036c0053t0107 a0036c0053t0107	a0036c0053t0107g0009 a0036c0053t0107g0009	1	210	0.0048	224	c.347 others(243): Show c.3476+1556_3476+1557insCTGACGGGGCAGGGCTCACAGTAATG CTCTGACAGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCAGGG CTCACAGTAATGCTCTGACAGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165905	C C	CACACTAA others(217): Show CACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGAGCTAACACTAATGCTCTGA CGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGAGCTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02622.hp2 HG02809.hp2	a0019 a0028 a0019 a0028	a0019c0030 a0028c0058 a0019c0030 a0028c0058	a0019c0030t0039 a0028c0058t0040 a0019c0030t0039 a0028c0058t0040	a0019c0030t0039g0140 a0028c0058t0040g0158 a0019c0030t0039g0140 a0028c0058t0040g0158	2	210	0.0095	224	c.347 others(243): Show c.3476+2436_3476+2437insAGCTAACACTAATGCTCTGACGGGGC GGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGAGCTAACACTAATGCTCTGACGGGGCGGGGCTCACA GTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166201	C C	CGGGGCGG others(217): Show CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA CTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGG GCGGGGCTCACACTAACGCTCTGAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0055 a0009c0014t0055	a0009c0014t0055g0201 a0009c0014t0055g0201	1	210	0.0048	224	c.347 others(243): Show c.3476+2660_3476+2661insAGCTCACACTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGA CGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATC CTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGATGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POU6F1_chr12_51181936_51223062	51197043	T T	TGTCTACC others(217): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTC TACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTC CAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACC GGCTGGATGGTTTCCAGGGCTAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03927.hp2 NA18939.hp1 others(1): Show HG00673.hp2 HG03927.hp2 NA18939.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0058 a0001c0001t0002 a0001c0001t0003 a0001c0001t0058	a0001c0001t0002g0030 a0001c0001t0003g0317 a0001c0001t0058g0097 a0001c0001t0002g0030 a0001c0001t0003g0317 a0001c0001t0058g0097	4	440	0.0091	224	c.847 others(239): Show c.847-117_847-116insCCCTAGCCCTGGAAACCATCCAGCCGGTAG ACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAAC CATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCC CTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATC CAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGAC	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10			chr12	TogoVar
POU6F1_chr12_51181936_51223062	51197043	T T	TGTCTACC others(217): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTC TACCTGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTC CAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACC GGCTGGATGGTTTCCAGGGCTAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG02280.hp2 HG00140.hp2 HG01168.hp1 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0055 a0002c0002t0001 a0002c0002t0055	a0002c0002t0001g0245 a0002c0002t0001g0268 a0002c0002t0055g0246 a0002c0002t0001g0245 a0002c0002t0001g0268 a0002c0002t0055g0246	3	440	0.0068	224	c.847 others(239): Show c.847-117_847-116insCCCTAGCCCTGGAAACCATCCAGCCGGTAG ACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAAC CATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCAGGTAGACCC CTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATC CAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGAC	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10			chr12	TogoVar
PPP1R12C_chr19_55085918_55122637	55096775	G G	GCCCCTTC others(217): Show GCCCCTTCCCCGCGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCGCAGT TCACCACCGTCTTCACCCCTTCCCCGCGCAGTTCACCACCGTCTTCGCCC CTTCCCCGCGCAGTTCACCACCGTCTTCACCCCTTCCCCGCGCAGTTCAC CACCGTCTTCGCCCCTTCCCCGCGCAGTTCACCACCGTCTTCGCCCCTTC CCCGCGCAGTTCACCACCGTCTTCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	390	0.0026	224	c.952 others(239): Show c.952-441_952-440insTGAAGACGGTGGTGAACTGCGCGGGGAAGG GGCGAAGACGGTGGTGAACTGCGCGGGGAAGGGGCGAAGACGGTGGTGAA CTGCGCGGGGAAGGGGTGAAGACGGTGGTGAACTGCGCGGGGAAGGGGCG AAGACGGTGGTGAACTGCGCGGGGAAGGGGTGAAGACGGTGGTGAACTGC GCGGGGAAGGGGCGAAGACGGTGGTGAACTGCGCGGGGAAGGGG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PRDM16_chr1_3064203_3443621	3379454	A A	ACACACCC others(217): Show ACACACCCCTCCCAACACACCCCTCCCAACACACCCCTCCCAGCACACCC CTCCCAGCACACCCCTCCCAGCACACCCCTCCCAACACAGTCCTCCCAGC ACACCCCTCCCAGCACACCCATCCCAACACAGTCCTCCCAGCACACCCCT CCCAACACACCCCTCCCAGCACACCCCTCCCAACACACCCCTCCCAGCAC ACCCCTCCCAGCACACCCCTCCCAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0185 a0003c0011t0001g0185	1	210	0.0048	224	c.439 others(241): Show c.439-5679_439-5678insCCCTCCCAACACACCCCTCCCAGCACAC CCCTCCCAGCACACCCCTCCCAGCACACCCCTCCCAACACAGTCCTCCCA GCACACCCCTCCCAGCACACCCATCCCAACACAGTCCTCCCAGCACACCC CTCCCAACACACCCCTCCCAGCACACCCCTCCCAACACACCCCTCCCAGC ACACCCCTCCCAGCACACCCCTCCCAGCACACCCCTCCCAACACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3379454	A A	ACACACCC others(217): Show ACACACCCCTCCCAGCACACCCCTCCCAGCACACCCCTCCCAGCACACCC CTCCCAGCACACCCCTCCCAGCACACCCCTCCCAACACAGTCCTCCCAGC ACACCCCTCCCAGCACACCCATCCCAACACAGTCCTCCCAGCACACCCCT CCCAACACACCCCTCCCAGCACACCCCTCCCAACACACCCCTCCCAGCAC ACCCCTCCCAGCACACCCCTCCCAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01069.hp1 HG01070.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0056 a0003c0011t0001g0057 a0003c0011t0001g0056 a0003c0011t0001g0057	2	210	0.0095	224	c.439 others(241): Show c.439-5685_439-5684insGCACACCCCTCCCAGCACACCCCTCCCA GCACACCCCTCCCAGCACACCCCTCCCAGCACACCCCTCCCAACACAGTC CTCCCAGCACACCCCTCCCAGCACACCCATCCCAACACAGTCCTCCCAGC ACACCCCTCCCAACACACCCCTCCCAGCACACCCCTCCCAACACACCCCT CCCAGCACACCCCTCCCAGCACACCCCTCCCAGCACACCCCTCCCA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54134145	C C	CCTCTCCA others(217): Show CCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	227	0.0044	224	c.27 others(235): Show c.2713_*2714insCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2433		chr19	TogoVar
PTMA_chr2_231703525_231718551	231715868	A A	ACTGGACT others(217): Show ACTGGACTCCACGCACCCTCACTGGACTCCACGCACCCTCACTCACTGGA CTCCACGCACCCTCACCGGACTCCACGCACCCTCACTGGACTCCACGCAC CCTCACTGGACTCCACGCACCCTCACTGGACTCCACGCACCCTCACTGGA CTCCACGCACCCTCACTGGACTCCACGCACCCTCACTCACTGGACTCCAT ACTGCCTCAGCAGACTCCACACTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA20300.hp1 HG02630.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0062 a0001c0001t0001g0063	2	392	0.0051	224	c.30 others(235): Show c.3017_*3018insCTGGACTCCACGCACCCTCACTGGACTCCACGCA CCCTCACTCACTGGACTCCACGCACCCTCACCGGACTCCACGCACCCTCA CTGGACTCCACGCACCCTCACTGGACTCCACGCACCCTCACTGGACTCCA CGCACCCTCACTGGACTCCACGCACCCTCACTGGACTCCACGCACCCTCA CTCACTGGACTCCATACTGCCTCAGCAGACTCCACACTCT	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		2318		chr2	TogoVar
PTPN9_chr15_75458251_75584315	75481798	T T	TGCCCGGC others(217): Show TGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGC CCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGAGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01106.hp1 others(7): Show HG00140.hp1 HG00733.hp2 HG01106.hp1 HG01123.hp2 HG01346.hp2 HG02683.hp2 HG03669.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 others(7): Show a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0007 a0001c0001t0010g0011	10	326	0.0307	224	c.106 others(243): Show c.1063-1885_1063-1884insGGGGGGCTGACCTCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(217): Show TCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTC CCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTC TCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCC CCCTCCCTCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0084 a0001c0001t0007g0084	1	94	0.0106	224	c.191 others(245): Show c.191-103928_191-103927insCCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTC CTCTGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCC CTCCCCTCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCC TCCCCTCCCCCTCCCTCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(217): Show TCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTC CCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTC TCCCCTCCTCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCC CCCTCCCTCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	94	0.0106	224	c.191 others(245): Show c.191-103928_191-103927insCCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTC CTCTGCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCC CTCCCCTCTCCCCTCCTCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCC TCCCCTCCCCCTCCCTCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(217): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTGCTC CCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTC TCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCCCTCC CCCTCCCTCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	94	0.0106	224	c.191 others(245): Show c.191-103924_191-103923insCTCTCCCCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCT GCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCC CCTCTCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCTCCTCCCCCCTCCC CTCCCCCTCCCTCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRM_chr18_7562316_8411856	7985469	G G	GTAAATAT others(217): Show GTAAATATATACATATACTGGTAGATACGTATATAAATATATACATATAC TGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAA ATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGGT AGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATAT ATACATATACTGGTAGATACGTATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03225.hp1 HG03453.hp2 HG02451.hp1 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0015 a0001c0002t0001g0050 a0001c0008t0001g0080 a0001c0002t0001g0015 a0001c0002t0001g0050 a0001c0008t0001g0080	3	80	0.0375	224	c.113 others(245): Show c.1132+30231_1132+30232insCTGGTAGATACGTATATAAATATA TACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATA CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTATATAAATATATACATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PXDNL_chr8_51314577_51814445	51534486	G G	GGTCAGCC others(217): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCATCCCGGAGGGAGGTGGTGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp2 HG02145.hp2 HG02896.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0059 a0009c0008t0001g0064 a0009c0008t0001g0059 a0009c0008t0001g0064	2	122	0.0164	224	c.380 others(243): Show c.380+22353_380+22354insACCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCACCACCTCCCTCCGGGATGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51534486	G G	GGTCAGCC others(217): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCATCCCGGAGGGAGGTGGTGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGTGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0003 a0009c0008t0003	a0009c0008t0003g0007 a0009c0008t0003g0007	1	122	0.0082	224	c.380 others(243): Show c.380+22353_380+22354insACCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCACCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCACCACCTCCCTCCGGGATGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
RAB3C_chr5_58578075_58864394	58598197	A A	ATAAGTAT others(217): Show ATAAGTATATGATAACATGTAATACATTATATATAAGTATATGATAACAT GTAATACATTATATGTAAGTATATGATAACATGTAATACATTATATGTAA GTATATGATAACATGTAATACATTATATGTAAGTATATGATAACATGTAA TACATTATATGTAAGTATATGATAACATGTAATACATTATATGTAAGTAT ATGATAACATGTAATACATTATATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp1 HG01884.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0057 a0001c0001t0023 a0001c0001t0057	a0001c0001t0023g0192 a0001c0001t0057g0195 a0001c0001t0023g0192 a0001c0001t0057g0195	2	220	0.0091	224	c.24+ others(241): Show c.24+14973_24+14974insTGATAACATGTAATACATTATATATAAG TATATGATAACATGTAATACATTATATGTAAGTATATGATAACATGTAAT ACATTATATGTAAGTATATGATAACATGTAATACATTATATGTAAGTATA TGATAACATGTAATACATTATATGTAAGTATATGATAACATGTAATACAT TATATGTAAGTATATGATAACATGTAATACATTATATGTAAGTATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58598197	A A	ATAAGTAT others(217): Show ATAAGTATATGATAACATGTAATACATTATATGTAAGTATATGATAACAT GTAATACATTATATGTAAGTATATGATAACATGTAATACATTATATGTAA GTATATGATAACATGTAATACATTATATGTAAGTATATGATAACATGTAA TACATTATATGTAAGTATATGATAACATGTAATACATTATATGTAAGTAT ATGATAACATGTAATACATTATATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	220	0.0046	224	c.24+ others(241): Show c.24+14973_24+14974insTGATAACATGTAATACATTATATGTAAG TATATGATAACATGTAATACATTATATGTAAGTATATGATAACATGTAAT ACATTATATGTAAGTATATGATAACATGTAATACATTATATGTAAGTATA TGATAACATGTAATACATTATATGTAAGTATATGATAACATGTAATACAT TATATGTAAGTATATGATAACATGTAATACATTATATGTAAGTATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(217): Show GCCCACCCCATCCCCCGTCCCATCCCCCATCCCCCGTCCCCCGTCCCCAT CCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCGTCCC CCATCCCATCCCCACCCCCATCCCCCGTCCCCCGTCCCATCCCCCCATCC CCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCTCCTGTCCCCCGTCCC CCATCCCCCGTCCCCATCCCCCACC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	452	0.0022	224	c.757 others(239): Show c.757-202_757-201insCCCCATCCCCCGTCCCATCCCCCATCCCCC GTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATC CCCCGTCCCCGTCCCCCATCCCATCCCCACCCCCATCCCCCGTCCCCCGT CCCATCCCCCCATCCCCCATCCCCCATCCCCCGTCCGCCGTCCCCCATCT CCTGTCCCCCGTCCCCCATCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6450775	A A	ATATATAC others(217): Show ATATATACATATATATATGTATATATATATATACATATATATATGTATAT ATATATATACATATATATATGTATATATATATACACATATATATGTATAT ATATATACATATATATATGTATATATATATATATATGTATATATATATAC ATATATGTATATATATATACATATATATATGTATATATATATACATATAT GTATATATATATACATATATATATG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0062 a0001c0001t0021g0062	1	68	0.0147	224	c.-64 others(245): Show c.-64+133724_-64+133725insCATATATATATGTATATATATATA TACATATATATATGTATATATATATATACATATATATATGTATATATATA TACACATATATATGTATATATATATACATATATATATGTATATATATATA TATATGTATATATATATACATATATGTATATATATATACATATATATATG TATATATATATACATATATGTATATATATATACATATATATATGTATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6450843	A A	ATATATAT others(217): Show ATATATATACACATATATATGTATATATATATACATATATATATGTATAT ATATATATATATGTATATATATATATACATATATGTATATATATATACAT ATATATGTATATATATATACATATATGTATATATATATACATATATATAT GTATATATATATATACATATATATATGTATATATATATACATATATATGT GTATATATATATACATATATATATG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	68	0.0147	224	c.-64 others(245): Show c.-64+133794_-64+133795insCACATATATATGTATATATATATA CATATATATATGTATATATATATATATATGTATATATATATATACATATA TGTATATATATATACATATATATGTATATATATATACATATATGTATATA TATATACATATATATATGTATATATATATATACATATATATATGTATATA TATATACATATATATGTGTATATATATATACATATATATATGTATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(217): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTATA CATACATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	224	c.-23 others(235): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATACACATACATACGTATGTATACACATACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATACGTATGTATACACATACATACATACGTAT GTATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(217): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TGTATACATACATACGTATGTATGTGTATACATACATACGTATGTATGTG TATACATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	224	c.-23 others(235): Show c.-2310_-2309insGTATACACATACATACGTATGTATACACATACAT ACGTATGTATGTATACACATACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATACGTATGTATACACATACATACATACGTAT GTATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(217): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TGTATACATACATACGTATGTGTATACATACATACGTATGTATGTGTATA CATACATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01358.hp1 HG02148.hp2 others(5): Show HG01074.hp2 HG01358.hp1 HG02148.hp2 NA18951.hp2 NA19003.hp1 NA19066.hp2 NA19068.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0001 a0001c0001t0001g0024	8	452	0.0177	224	c.-23 others(235): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATGTATACACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATACATACGTATGTATACACATACATACATACGTAT GTATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759608	T T	TACATACG others(217): Show TACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACA TATGTATGTATGTGTACACATACGTATGTATGTGTATACATACATACGTA TGTATGTGTACACATACGTATGTATGTGTACACATACATATGTATGTATG TGTACACATACATATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	224	c.-24 others(235): Show c.-2424_-2423insGTACACATACATATGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTGTACACATACATACATATGTATGTAT ACACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2199		chr3	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(217): Show ACCCGGCCGGGGAGGGGGAGGGGGGGCGGCGGCGGCGGCCTCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGG CGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCCTCGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0011 a0016c0018t0011	a0016c0018t0011g0001 a0016c0018t0011g0001	1	40	0.0250	224	c.72+ others(235): Show c.72+47_72+48insAGGGGGAGGGGGGGCGGCGGCGGCGGCCTCGGCC CGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGG GCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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