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
NOC4L_chr12_132139457_132157468	132150624	G G	GCTCCTAC others(345): Show GCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGTCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTACCACCGCCTCGCTCATACCACACCCCTAATCCCC TCGGTGAGTACCACCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTACC ACCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTACCACCGCC TCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	294	0.0034	352	c.902 others(367): Show c.902-354_902-353insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGTCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTACCACCGCCTCGCTCATAC CACACCCCTAATCCCCTCGGTGAGTACCACCGCCTCACTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTACCACCGCCTCGCTCATACCACACCCCTAATCCCCTC GGTGAGTACCACCGCCTCACTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150717	C C	CACCACAC others(345): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	294	0.0034	352	c.902 others(367): Show c.902-217_902-216insACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOX4_chr11_89319353_89496375	89474979	T T	TAAATAAC others(345): Show TAAATAACAGAAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG00735.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0268 a0001c0001t0002g0269	2	288	0.0069	352	c.153 others(371): Show c.153+15478_153+15479insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCGGCTTCTGTTATTT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(345): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	384	0.0026	352	c.-6- others(369): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(345): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCCCCCCCTCCC CTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	326	0.0031	352	c.433 others(369): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGG AAGGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGA GGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(345): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCCCTCCTC TCCCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCCCCCCCTCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTC CCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCT TCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCC CTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCC TCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0045 a0002c0003t0045	a0002c0003t0045g0092 a0002c0003t0045g0092	1	326	0.0031	352	c.433 others(369): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGA AGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGA GGGGAGAGGAGGGGAGAGGAGGGGAGAGGAGGGGAGAGGAGGGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTAQ1_chr8_123411774_123447240	123421386	T T	TAAGAATA others(345): Show TAAGAATAGTCATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03239.hp2 NA18971.hp1 HG02040.hp2 HG03239.hp2 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	3	366	0.0082	352	c.83+ others(367): Show c.83+4470_83+4471insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAATAGTCATTCTG	NTAQ1	ENSG00000156795.8	transcript	ENST00000287387.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(345): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATATTATCATATTATGACATATATCATAATATATATTATCATATT ATGACATATATCATAATATATATTATCATATTATGACATATATCATAATA TATATTATCATATTATGACATATATCATAATATATATTATCATATTATGA CAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01361.hp2 HG01516.hp2 others(8): Show HG00140.hp1 HG01361.hp2 HG01516.hp2 HG01975.hp1 HG02257.hp1 HG02630.hp2 HG02647.hp2 HG02922.hp1 HG03130.hp2 HG04204.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0029 others(2): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0029 a0001c0001t0098 a0001c0001t0121	a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0003g0066 others(8): Show a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0015g0185 a0001c0001t0015g0187 a0001c0001t0015g0188 a0001c0001t0029g0200 a0001c0001t0029g0203 a0001c0001t0098g0167 a0001c0001t0121g0186	11	268	0.0410	352	c.116 others(371): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATATTATCATATTATGACATATATCA TAATATATATTATCATATTATGACATATATCATAATATATATTATCATAT TATGACATATATCATAATATATATTATCATATTATGACATATATCATAAT ATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(345): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATGTCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATATTATCATATTATGACATATATCATAATATATATTATCATATT ATGACATATATCATAATATATATTATCATATTATGACATATATCATAATA TATATTATCATATTATGACATATATCATAATATATATTATCATATTATGA CAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0064 a0001c0001t0101g0064	1	268	0.0037	352	c.116 others(371): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATGTCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATATTATCATATTATGACATATATCA TAATATATATTATCATATTATGACATATATCATAATATATATTATCATAT TATGACATATATCATAATATATATTATCATATTATGACATATATCATAAT ATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(345): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGG GTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	438	0.0023	352	c.-29 others(367): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAATAAT AATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(345): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGG GTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	438	0.0023	352	c.-29 others(367): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAAT AATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSTF1_chr9_75083514_75152265	75139027	C C	CTTCTTTC others(345): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0329 a0001c0001t0010g0329	1	366	0.0027	352	c.487 others(369): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOF_chr2_26452203_26483124	26476613	T T	TCCCCACC others(345): Show TCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACCTCCTTCCCCAGCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACC TCCTTCCCCACCCCTTCCCCACCCACCCCTTCCCCCACCTCCTTCCCCAC CCCTTCCCCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCT TCC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	330	0.0030	352	c.435 others(367): Show c.435+277_435+278insGGAAGGGGTGGGGAAGGAGGTGGGGGAAGG GGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGAAGGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTG GGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGT GGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGCTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGG GAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGA AGGGGTGGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
OTOF_chr2_26452203_26563756	26476613	T T	TCCCCACC others(345): Show TCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACCTCCTTCCCCAGCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCA CCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCTTCCCCCACC TCCTTCCCCACCCCTTCCCCACCCACCCCTTCCCCCACCTCCTTCCCCAC CCCTTCCCCCACGTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCT TCC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0001 a0004c0024t0001	a0004c0024t0001g0214 a0004c0024t0001g0214	1	284	0.0035	352	c.267 others(369): Show c.2676+277_2676+278insGGAAGGGGTGGGGAAGGAGGTGGGGGAA GGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGG GGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGG GTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGT GGGGGAAGGGCTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGAAGGACGTGGGGGAAGGGGTGGGGAAGGAGGTGGGG GAAGGGGTGGGGGAAGGGGTGGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(345): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCT CCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCC TCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCC CCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCCCTT CCCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCCCCTCCCCCTCCCCTC CACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCC TCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0222 a0001c0001t0019g0222	1	308	0.0033	352	c.226 others(371): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCT CCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCT CCCCTCCCCCTCCTCCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCC CCCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCC CCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCC CTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PATL1_chr11_59631716_59674037	59636010	T T	TAAAAATT others(345): Show TAAAAATTACCCAGGTGTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCACGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	276	0.0036	352	c.23 others(363): Show c.2379_*2380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCGTGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CACACCTGGGTAATTTTT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		705		chr11	TogoVar
PCGF3_chr4_700832_775089	717033	C C	CTGAGTGT others(345): Show CTGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTGGACACTGAGTG TGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGAAGACACTGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTAGATACTGTGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTAGATACTGTGAGTGTGAGAACTGGGCGTCAGTGCTGGGAC CCTCTAGACACTGTGAGTGTGAGAACTGGGCGTCGGTGCTGGGCCCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTGGGTGCTGGGACCCTGTAGACA CTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0006 a0001c0001t0061g0006	1	366	0.0027	352	c.-19 others(373): Show c.-190+11067_-190+11068insTGTGAGAACTGGGTGTCGGTGCTG GGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCT GTAGACACTGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGAAGACACT GAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGATACTGTGAGTG TGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGATACTGTGAGTGTGAGA ACTGGGCGTCAGTGCTGGGACCCTCTAGACACTGTGAGTGTGAGAACTGG GCGTCGGTGCTGGGCCCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTG GGTGCTGGGACCCTGTAGACACTGTGAG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	717033	C C	CTGAGTGT others(345): Show CTGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTGGACACTGAGTG TGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGAAGACACTGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTAGATACTGTGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTAGATACTGTGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTCTAGACACTGTGAGTGTGAGAACTGGGCGTCGGTGCTGGGCCCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTGGGTGCTGGGACCCTGTAGACA CTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0075 a0001c0001t0063g0075	1	366	0.0027	352	c.-19 others(373): Show c.-190+11067_-190+11068insTGTGAGAACTGGGTGTCGGTGCTG GGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCT GTAGACACTGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGAAGACACT GAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGATACTGTGAGTG TGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGATACTGTGAGTGTGAGA ACTGGGCGTCGGTGCTGGGACCCTCTAGACACTGTGAGTGTGAGAACTGG GCGTCGGTGCTGGGCCCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTG GGTGCTGGGACCCTGTAGACACTGTGAG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK5_chr9_75885673_76367975	76337136	G G	GAAGAATA others(345): Show GAAGAATAATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0018 a0018	a0018c0089 a0018c0089	a0018c0089t0003 a0018c0089t0003	a0018c0089t0003g0099 a0018c0089t0003g0099	1	166	0.0060	352	c.474 others(371): Show c.4749-1081_4749-1080insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAATAATTCAG	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	34/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311711	C C	CCCCTCAC others(345): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(23): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG01070.hp1 HG01123.hp2 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02698.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 NA18612.hp1 NA18939.hp2 NA18954.hp2 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18991.hp2 NA19012.hp2 NA19063.hp2 NA19067.hp2 NA19074.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0020	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0038 a0002c0035 a0005c0027 a0020c0073	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0012t0001 a0001c0038t0001 a0002c0035t0007 a0005c0027t0001 a0020c0073t0001	a0001c0001t0001g0196 a0001c0001t0001g0247 a0001c0001t0001g0284 others(23): Show a0001c0001t0001g0196 a0001c0001t0001g0247 a0001c0001t0001g0284 a0001c0002t0001g0161 a0001c0002t0001g0174 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0195 a0001c0002t0001g0285 a0001c0004t0001g0069 a0001c0004t0001g0121 a0001c0004t0001g0128 a0001c0004t0001g0134 a0001c0004t0001g0140 a0001c0006t0001g0067 a0001c0006t0001g0079 a0001c0006t0001g0091 a0001c0007t0001g0057 a0001c0007t0001g0094 a0001c0011t0001g0159 a0001c0011t0001g0278 a0001c0012t0001g0126 a0001c0038t0001g0138 a0002c0035t0007g0032 a0005c0027t0001g0330 a0020c0073t0001g0336	26	336	0.0774	352	c.269 others(371): Show c.2699+1664_2699+1665insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311736	C C	CCCCTCAC others(345): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0193 a0001c0005t0001g0193	1	336	0.0030	352	c.269 others(371): Show c.2699+1639_2699+1640insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311736	C C	CCCCTCAC others(345): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01071.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0198 a0001c0011t0001g0202 a0001c0011t0001g0218 a0001c0011t0001g0198 a0001c0011t0001g0202 a0001c0011t0001g0218	3	336	0.0089	352	c.269 others(371): Show c.2699+1639_2699+1640insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311757	G G	GTCACCCC others(345): Show GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC GTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCAT CGTCACACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCA TCA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0129 a0001c0006t0001g0129	1	336	0.0030	352	c.269 others(371): Show c.2699+1618_2699+1619insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGA CGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTG ACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTG ACGATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311962	C C	CCCCTCAC others(345): Show CCCCTCACAGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCG TCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCG TCA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0009 a0009	a0009c0048 a0009c0048	a0009c0048t0001 a0009c0048t0001	a0009c0048t0001g0290 a0009c0048t0001g0290	1	336	0.0030	352	c.269 others(371): Show c.2699+1413_2699+1414insTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGTG TGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGAGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(345): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCT GCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGC CCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCAC TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	360	0.0028	352	c.35 others(363): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCA CCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCAC CTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTC CACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDE11A_chr2_177618244_178077777	177947132	A A	AGGGAGGT others(345): Show AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA AGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	170	0.0059	352	c.107 others(373): Show c.1072-41946_1072-41945insGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCT TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGGCTGACCCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDXK_chr21_43714129_43767299	43743128	A A	ATGGGGAC others(345): Show ATGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCGCCCCCAGCACTG TGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCTCCCGAGCACT GTGGGGACACCTCGCCTGCACCCACCTCCTTCCCCCCAGCTCCCGAGCAC TGTGGGGACACCTCGCCTGCACCCACCTCCTTCCCCCCAGCTCCCGAGCA CTGTGGGGACACCCCGCCTGCACCCACCTCCCTCTCCCCCGCCCCCAGCA CTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGCCCCCGAGC ACTGTGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCGCCCCCAGCA CTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	358	0.0028	352	c.248 others(367): Show c.248-560_248-559insGCCCCCAGCACTGTGGGGACACCTCGCCTG CACCCACCTCCCTCCCCCCAGCTCCCGAGCACTGTGGGGACACCTCGCCT GCACCCACCTCCTTCCCCCCAGCTCCCGAGCACTGTGGGGACACCTCGCC TGCACCCACCTCCTTCCCCCCAGCTCCCGAGCACTGTGGGGACACCCCGC CTGCACCCACCTCCCTCTCCCCCGCCCCCAGCACTGTGGGGACACCTCGC CTGCACCCACCTCCCTCCCCCCAGCCCCCGAGCACTGTGGGGACACCTCG CCTGCACCCACCTCCCTCCCCCCGCCCCCAGCACTGTGGGGACACCTCGC CTGCACCCACCTCCCTCCCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEBP4_chr8_22708251_22932914	22922440	C C	CAAGACTA others(345): Show CAAGACTAGGCACAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAACAAAAACAAAAAAACAAAAAAAA CAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01071.hp2 others(15): Show HG00280.hp1 HG00738.hp1 HG01071.hp2 HG01106.hp1 HG01243.hp2 HG01255.hp1 HG01515.hp1 HG02004.hp1 HG02135.hp2 HG02683.hp1 HG03927.hp1 NA18747.hp1 NA18962.hp2 NA18980.hp2 NA18983.hp1 NA19081.hp1 NA19085.hp1 NA19091.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0009	a0001c0001 a0001c0018 a0002c0002 others(4): Show a0001c0001 a0001c0018 a0002c0002 a0003c0003 a0004c0004 a0007c0009 a0009c0027	a0001c0001t0002 a0001c0018t0002 a0002c0002t0002 others(4): Show a0001c0001t0002 a0001c0018t0002 a0002c0002t0002 a0003c0003t0004 a0004c0004t0004 a0007c0009t0001 a0009c0027t0002	a0001c0001t0002g0164 a0001c0001t0002g0263 a0001c0001t0002g0264 others(15): Show a0001c0001t0002g0164 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0018t0002g0261 a0002c0002t0002g0162 a0002c0002t0002g0163 a0003c0003t0004g0269 a0004c0004t0004g0262 a0004c0004t0004g0267 a0007c0009t0001g0064 a0009c0027t0002g0270	18	278	0.0648	352	c.132 others(369): Show c.132-2131_132-2130insTTGTTTTTTTTGTTTTTTTGTTTTTGTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCCACTGTGCCTAGTCTT	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	2/6			chr8	TogoVar
PGBD1_chr6_28276572_28307549	28306511	T T	TTGCATTG others(345): Show TTGCATTGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0053 a0002c0003t0001g0053	1	408	0.0025	352	c.42 others(363): Show c.4227_*4228insTGCATTGTGGTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	PGBD1	ENSG00000137338.6	transcript	ENST00000682144.1	protein_coding		3963		chr6	TogoVar
PGBD2_chr1_248901235_248924146	248911643	A A	AGACGGGG others(345): Show AGACGGGGCGGCTGGCCGGGCAAAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGGCGGGTCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG03098.hp2 others(2): Show HG02615.hp2 HG02723.hp1 HG03098.hp2 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0217	5	422	0.0119	352	c.-47 others(369): Show c.-47-2152_-47-2151insAAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGGCGGGTCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCA	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(345): Show GGAGGGGAGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGAGGGGAGGGGGA AGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGG GAGGAGGGGAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGGAG GGAAGAGGAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0095 a0001c0002t0004g0095	1	312	0.0032	352	c.53 others(363): Show c.5377_*5378insGAGGGGAGGGGAAGAGGGGAGGGGGAAGAGGGGA GGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGG GAGGAGATGGGAGGGGAGGAGGGGAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGGAGGGAAGAGGAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAAGAGGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAA GAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(345): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02723.hp1 others(7): Show HG02647.hp1 HG02717.hp2 HG02723.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0004 a0001c0002t0011 a0001c0002t0015 others(1): Show a0001c0002t0004 a0001c0002t0011 a0001c0002t0015 a0001c0005t0004	a0001c0002t0004g0006 a0001c0002t0004g0027 a0001c0002t0004g0075 others(5): Show a0001c0002t0004g0006 a0001c0002t0004g0027 a0001c0002t0004g0075 a0001c0002t0004g0081 a0001c0002t0004g0097 a0001c0002t0011g0139 a0001c0002t0015g0006 a0001c0005t0004g0096	10	312	0.0321	352	c.53 others(363): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAA GAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(345): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAATAGGGAGGGGAGAGG GAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGG GGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	352	c.53 others(363): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAA TAGGGAGGGGAGAGGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGA GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAA GAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(345): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGA GGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02280.hp1 HG02647.hp1 others(8): Show HG01167.hp2 HG02280.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 others(1): Show a0001c0001 a0001c0007 a0002c0004 a0002c0009	a0001c0001t0006 a0001c0001t0050 a0001c0007t0006 others(5): Show a0001c0001t0006 a0001c0001t0050 a0001c0007t0006 a0001c0007t0027 a0001c0007t0035 a0001c0007t0051 a0002c0004t0011 a0002c0009t0006	a0001c0001t0006g0035 a0001c0001t0050g0065 a0001c0007t0006g0022 others(8): Show a0001c0001t0006g0035 a0001c0001t0050g0065 a0001c0007t0006g0022 a0001c0007t0006g0025 a0001c0007t0027g0026 a0001c0007t0027g0034 a0001c0007t0035g0072 a0001c0007t0051g0177 a0002c0004t0011g0110 a0002c0009t0006g0063 a0002c0009t0006g0113	11	218	0.0505	352	c.262 others(367): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCC CCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCC TCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTTCC CCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCC CTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGG others(345): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGAATAGGGGAGGGGAGAGGA GGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGG GGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGG GAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0157 a0001c0001t0079g0157	1	218	0.0046	352	c.262 others(367): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCT CCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCTCCC CTCCCTTCCCCTCTTCCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKD1L1_chr7_47769614_47953466	47793047	T T	TAAAAAAA others(345): Show TAAAAAAAAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAA CAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG02129.hp2 others(5): Show HG00738.hp2 HG01109.hp2 HG02129.hp2 NA18747.hp1 NA18950.hp2 NA18977.hp1 NA18986.hp1 NA19088.hp1	a0004 a0005 a0009 others(2): Show a0004 a0005 a0009 a0029 a0090	a0004c0029 a0005c0002 a0005c0009 others(3): Show a0004c0029 a0005c0002 a0005c0009 a0009c0023 a0029c0035 a0090c0058	a0004c0029t0001 a0005c0002t0001 a0005c0009t0001 others(3): Show a0004c0029t0001 a0005c0002t0001 a0005c0009t0001 a0009c0023t0001 a0029c0035t0001 a0090c0058t0001	a0004c0029t0001g0180 a0005c0002t0001g0118 a0005c0002t0001g0127 others(5): Show a0004c0029t0001g0180 a0005c0002t0001g0118 a0005c0002t0001g0127 a0005c0009t0001g0114 a0005c0009t0001g0126 a0009c0023t0001g0213 a0029c0035t0001g0085 a0090c0058t0001g0059	8	306	0.0261	352	c.835 others(369): Show c.8356-251_8356-250insTTGTTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCAATAGTTTTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	55/56			chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47793047	T T	TAAAAAAA others(345): Show TAAAAAAAAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAACAAAA CAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19080.hp2 HG02015.hp2 NA19080.hp2	a0011 a0055 a0011 a0055	a0011c0063 a0055c0092 a0011c0063 a0055c0092	a0011c0063t0001 a0055c0092t0001 a0011c0063t0001 a0055c0092t0001	a0011c0063t0001g0098 a0055c0092t0001g0095 a0011c0063t0001g0098 a0055c0092t0001g0095	2	306	0.0065	352	c.835 others(369): Show c.8356-251_8356-250insTTGTTTTGTTTTTTGTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCAATAGTTTTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	55/56			chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47793050	A A	AAAAAAAA others(345): Show AAAAAAAACTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAACAAAACAA AAC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0143 a0001c0007t0001g0143	1	306	0.0033	352	c.835 others(369): Show c.8356-254_8356-253insGTTTTGTTTTGTTTTGTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAATAGTTTTTTT	PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	55/56			chr7	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(345): Show TTCAGTAAAGTTTTTTTTTGTTGTTTTTTTTTTGTTTGTTTGTTTTTTGT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGAGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGC CAC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	294	0.0034	352	c.550 others(369): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAACAAAAAACAAACAAACAAAAAAAA AACAACAAAAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLXDC2_chr10_19811432_20294856	19843073	T T	TAAAATTT others(345): Show TAAAATTTACCGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0136 a0002c0002t0026g0136	1	180	0.0056	352	c.112 others(371): Show c.112+25895_112+25896insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATTTACCGGA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
POU6F1_chr12_51181936_51223062	51197043	T T	TGTCTACC others(345): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTC TACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTC CAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACC GGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGG GCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCT GGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTA GGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19081.hp1 NA18982.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	2	440	0.0046	352	c.847 others(367): Show c.847-117_847-116insCCCTAGCCCTGGAAACCATCCAGCCGGTAG ACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAAC CATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCC CTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATC CAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAG CCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGC CGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCT GGAAACCATCCAGCCGGTAGAC	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10			chr12	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCCCCT others(345): Show TCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTC TCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCT CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTC CCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18941.hp2 HG02132.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0028 a0001c0001t0001g0038	2	312	0.0064	352	c.306 others(371): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCT CTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTCCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(345): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCT TTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCC TTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCC TTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTC CTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	244	0.0041	352	c.467 others(365): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCT TCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCT TCCTTCTTTCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R7_chr2_241145467_241188652	241187727	C C	CAGGAGGA others(345): Show CAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGA AGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGA AGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGG GAGTGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGG GGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGAAGGAAGAGGAGAGG GAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGAGGGGGAGTGGGGAG AAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAAC GAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0154	1	396	0.0025	352	c.49 others(363): Show c.4904_*4905insAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGG AAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAG TGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGA GAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAG AAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAG AAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGG AGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGG GGGAGGGGGAGAAACGAT	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding		4076		chr2	TogoVar
PTPN9_chr15_75458251_75584315	75481624	C C	CCCACCCG others(345): Show CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCGGCCAGCCGCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGG AGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	326	0.0031	352	c.106 others(371): Show c.1063-1711_1063-1710insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCTACCTCCCT CCCGGACGGGGCGGCTGGCCGGGTGG	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	10056007	T T	TCTGAAAG others(345): Show TCTGAAAGTACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	34	0.0294	352	c.-54 others(373): Show c.-544-22218_-544-22217insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAAGTACTTTCAG	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	467894	A A	AGGGAAGT others(345): Show AGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGC GCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0057 a0001c0008t0057	a0001c0008t0057g0113 a0001c0008t0057g0113	1	295	0.0034	352	c.809 others(369): Show c.809-3398_809-3397insAAGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTCCTG GGGCGTCAGGGAGGAGGCGCTGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB17_chr2_237569326_237595734	237585168	C C	CAAAAGGG others(345): Show CAAAAGGGTTCATGCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGTGTGAAGCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0013 a0006c0011t0013	a0006c0011t0013g0110 a0006c0011t0013g0110	1	424	0.0024	352	c.157 others(367): Show c.157+829_157+830insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGCTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCGAGCATGAACCCTTTT	RAB17	ENSG00000124839.13	transcript	ENST00000264601.8	protein_coding	2/5			chr2	TogoVar
RAI14_chr5_34651328_34837612	34717925	T T	TCCAACCC others(345): Show TCCAACCCTGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACCGGCGCCCGC CACTACGCCCGGCTAGTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02738.hp1 HG02622.hp1 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0223 a0002c0005t0001g0115 a0001c0001t0001g0223 a0002c0005t0001g0115	2	254	0.0079	352	c.36+ others(369): Show c.36+30984_36+30985insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGGAGGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACCGG CGCCCGCCACTACGCCCGGCTAGTTTTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCCCAACCCTGCTCTT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RELB_chr19_44996464_45043192	45038561	T T	TAAAAAAT others(345): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 NA19010.hp2 NA20300.hp1 HG04199.hp1 NA19010.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0083 a0001c0001t0002g0300 a0001c0004t0001g0242 a0001c0001t0002g0083 a0001c0001t0002g0300 a0001c0004t0001g0242	3	382	0.0079	352	c.77 others(361): Show c.771_*772insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding		370		chr19	TogoVar

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