Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
MUC4_chr3_195741771_195816929	195771146	C C	CGGGTTGG others(409): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGG GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGCG GCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCC TGGTCAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01071.hp2 others(2): Show HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01433.hp1 HG01515.hp1	a0001 a0001	a0001c0007 a0001c0019 a0001c0007 a0001c0019	a0001c0007t0002 a0001c0019t0002 a0001c0007t0002 a0001c0019t0002	a0001c0007t0002g0020 a0001c0007t0002g0038 a0001c0007t0002g0039 others(2): Show a0001c0007t0002g0020 a0001c0007t0002g0038 a0001c0007t0002g0039 a0001c0019t0002g0136 a0001c0019t0002g0137	5	92	0.0543	416	c.132 others(435): Show c.13242+505_13242+506insAACCACGAGACTGACCAGGAATACCC CAACCCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACT GACCAGGAATACCCCAACCCAACCACGAGACTGACCAGGAATACCCCAAC CCGGCCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACC AGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGG CCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATGT others(409): Show CTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTA TACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATA CTGTGTATATATACACAGTATGTATACTGCATACAGTATGTATACTGTAT ACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTA TACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATAC AGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATA CACAATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTG TATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	118	0.0085	416	c.-75 others(435): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATATATAC AGTATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGT ATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTG CATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACAGTAT ACATACTGTATGCAGTATACATACTGTGTATATATACACAGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTG TGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTG TATATATACGGTATACATACATACAGTATACATACATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(409): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGCATGC AGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATA CACTATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTG TATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0211 a0001c0001t0008g0211	1	118	0.0085	416	c.-75 others(435): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATAC AGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGT ATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACATACAGTATACATACAT ACAGTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTA CACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136528558	A A	ATGGGCAG others(409): Show ATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGC AAGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGG GGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGCGGT GGGCAGGGACAGTGCGGGGAATGGGCAGGGACAGTGAGGGGGATGGGCAA GGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGT GGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGG CGGTGGGCAGGGACAGTGCGGGGAATGGGCAGGGACAGTGAGGGGGATGG GCAGGGACAGTGGGGGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0004 a0001c0053t0004	a0001c0053t0004g0133 a0001c0053t0004g0133	1	322	0.0031	416	c.141 others(433): Show c.141-4580_141-4579insCCCCCCACTGTCCCTGCCCATCCCCCTC ACTGTCCCTGCCCATTCCCCGCACTGTCCCTGCCCACCGCCCCCCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGC CCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCC CCTCACTGTCCCTGCCCATTCCCCGCACTGTCCCTGCCCACCGCCCCCCA CTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCT GCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCA TCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCTTGCCCATCCCCC CCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(409): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGC AATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCA GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0302	1	206	0.0049	416	c.140 others(433): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGG GATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535625	A A	AGCACTCA others(409): Show AGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGT GGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGG TGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTG CAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0004 a0008c0023t0004	a0008c0023t0004g0076 a0008c0023t0004g0076	1	150	0.0067	416	c.140 others(433): Show c.140+8398_140+8399insCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCC CCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCA CCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGC ACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(409): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATAATATATATTATATATAAAG TATATATATAATATATATTATATATAAAGTATATATATAATATATATTAT ATATAAAGTATATATATAATATATATTATATATATATAAAATATATAATA TATATTATATATATAAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0150 a0001c0003t0003g0150	1	2	0.5000	416	c.730 others(433): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATACTTTATATATA ATATATATTATATATTATATATATACTTTATATATATAATATATATTATA TATATTATATATATACTTTATATATATAATATATATTATATATATTATAT ATATACTTTATATATATAATATATATTATATATATTATATATATACTTTA TATATATAATATATATTATATATATTATATATATACTTTATATATAATAT ATATTATATATATTATATATATACTTTATATATAATATATATTATATATA TTATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
OPCML_chr11_132409981_133537501	133082514	C C	CTCCCCTC others(409): Show CTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTC CCCTCCTCCCCTCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCC TCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCC TCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCA TCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCC TCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCT CCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCT CCCCCTCGCCCATCCCCCTTTCCCCTCCTCCCCTCCTCATCCTCTCCTCC CCCTCGCCCATCCCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	46	0.0217	416	c.62- others(435): Show c.62-139505_62-139504insAGGGGGATGGGCGAGGGGGAGGAGAG GATGAGGAGGGGAGGAGGGGAAAGGGGGATGGGCGAGGGGGAGGAGAGGA TGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGA GGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGA GGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGG GAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAG GAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAAGGG GGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGGGGGA TGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133082525	C C	CCCTCCTC others(409): Show CCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCC TCCTCATTCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCC TCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCC CCCTCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCC TCGCCCATCCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCG CCCATCCCCCTTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCC CATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCAT CCCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01192.hp2 HG01071.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0022 a0001c0001t0003g0046 a0001c0001t0002g0022 a0001c0001t0003g0046	2	60	0.0333	416	c.62- others(435): Show c.62-139516_62-139515insAGAGGAGGGGAAGGGGGATGGGCGAG GGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGG GAGGAGAGGATGAGGAGGGGAGGAGGGGAAAGGGGGATGGGCGAGGGGGA GGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGA GAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAG GATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGAT GAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAG GAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGGAGGAG GGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPRM1_chr6_154034240_154137356	154099659	G G	GTATATAC others(409): Show GTATATACATATATACATATATATACACACATGTATATACATATATACAT ATATATATACACACATGTATATACATATATACATATATATATACACACAT GTATATACATATATACATATATATATACACACATGTATATACATATATAC ATATATATATACACACATGTATATACATATATACATATATATATACACAC ATGTATATACATATATACATATATATATACACACATGTATATACATATAT ACATATATATACACACATGTATATACATATATACATATATATACACACAT GTATATACATATATACATATGTATACACATGTATATACATATATACATAT ATATATACACACATGTATATACATATATACATATATATACACACATGTAT ATACATATATACATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03195.hp2 HG02723.hp1 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0103 a0003c0003t0104 a0003c0003t0103 a0003c0003t0104	a0003c0003t0103g0017 a0003c0003t0104g0018 a0003c0003t0103g0017 a0003c0003t0104g0018	2	58	0.0345	416	c.116 others(435): Show c.1164+8203_1164+8204insTATATATACACACATGTATATACATA TATACATATATATATACACACATGTATATACATATATACATATATATATA CACACATGTATATACATATATACATATATATATACACACATGTATATACA TATATACATATATATATACACACATGTATATACATATATACATATATATA TACACACATGTATATACATATATACATATATATATACACACATGTATATA CATATATACATATATATACACACATGTATATACATATATACATATATATA CACACATGTATATACATATATACATATGTATACACATGTATATACATATA TACATATATATATACACACATGTATATACATATATACATATATATACACA CATGTATATACATATATACATATATATATACATATATACA	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATCAT others(409): Show CATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACATATATCATAATATATATTATCATATTATGACATATA TCATAATATATATTATCATATTATGACATATATCATAATATATATTATCA TATTATGACATATATCATAATATATATTATCATATTATGACATATATCAT AATATATATTATCATATTATGACATATATCATAATATATATTATCATATT ATGACATATATCATAATATATATTATCATATTATGACATATATCATAATA TATATTATCATATTATGACATATATCATAATATATATTATCATATTATGA CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0067 a0002c0002t0067	a0002c0002t0067g0161 a0002c0002t0067g0161	1	58	0.0172	416	c.116 others(435): Show c.1164+8751_1164+8752insATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACATATATCATAATATATATTATCATATTATGACATATA TCATAATATATATTATCATATTATGACATATATCATAATATATATTATCA TATTATGACATATATCATAATATATATTATCATATTATGACATATATCAT AATATATATTATCATATTATGACATATATCATAATATATATTATCATATT ATGACATATATCATAATATATATTATCATATTATGACATATATCATAATA TATATTATCATATTATGACATATATCATAATATATATTATCATATTATGA CATATATCATAATATATATTATCATATTATGACATATATC	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(409): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGAG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGT AAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACC ACAGTCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01256.hp2 HG01258.hp2 others(7): Show HG01109.hp1 HG01256.hp2 HG01258.hp2 HG02083.hp1 HG02647.hp1 HG02738.hp1 HG03239.hp1 HG04115.hp1 NA18986.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0266 others(6): Show a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0266 a0001c0001t0002g0270 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0289 a0001c0001t0002g0295	10	40	0.2500	416	c.27 others(427): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCTCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCT GAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCA TGATACTGCTTTCCTTGAGTTCAGTTACTGTC	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2224		chr7	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(409): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGACTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGT AAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACC ACAGTCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01978.hp1 HG01993.hp2 others(8): Show HG00438.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02080.hp1 HG02132.hp2 NA18955.hp2 NA18962.hp1 NA18963.hp2 NA19009.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0002g0007 a0001c0001t0002g0020 others(8): Show a0001c0001t0001g0052 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0207 a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0253	11	41	0.2683	416	c.27 others(427): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCT GAAAATATTAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCA TGATACTGCTTTCCTTGAGTTCAGTTACTGTC	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2224		chr7	TogoVar
ORC5_chr7_104121341_104213013	104124116	A A	AGACAGTA others(409): Show AGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGGGTCTA CTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTGAGGA TGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGTGGAG ACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAGTCTG AGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGTAAGT GGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACCACAG TCTGAGGATGACGGACAGTAACTGAACTCAAGGAAAGCAGTATCATGGGT AAGTGGGGACTACTGTATTTCTGGTGTTTTCCATTTAATATTTTCAGACC ACAGTCTGAGGATGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	31	0.0323	416	c.27 others(427): Show c.2731_*2732insCGTCATCCTCAGACTGTGGTCTGAAAATATTAAA TGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTGCTTT CCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAAATAT TAAATGGAAAACACCAGAAATACAGTAGTCCCCACTTACCCATGATACTG CTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCTGAAA ATATTAAATGGAAAACACCAGAAATACAGTAGTCTCCACTTACCCATGAT ACTGCTTTCCTTGAGTTCAGTTACTGTCCGTCATCCTCAGACTGTGGTCT GAAAATATTAAATGGAAAACACCAGAAATACAGTAGACCCCACTTACCCA TGATACTGCTTTCCTTGAGTTCAGTTACTGTC	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2224		chr7	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(409): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	122	0.0082	416	c.70 others(427): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45898300	G G	GTCCTCAC others(409): Show GTCCTCACAGCCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACA CCGTCCTCACAGCCTCCCTCTACACACCGTCCTCACAGCCTCCCTCTGCA CACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTA CACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTCACAGCCTCCCTC TGCACACCGTCCTCACAGCCTCCCTCTGCACACCATCCTCACAGCCTCCC TCTGCACACCGTCCTCACGGCCTCCCTCTGCACACCGTCCTCACGGCCTC CCTCTGCACACCGTCCTCACGGCCTCCCTCTACACACCGTCCTCACGGCC TCCCTCTGCACACCGTCCTCACGGCCTCCCTCTGCACACCGTCCTCACGG CCTCCCTCTGCACACCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0021 a0001c0001t0015g0021	1	290	0.0034	416	c.166 others(433): Show c.166-1290_166-1289insCCTCCCTCTGCACACCGTCCTCACAGCC TCCCTCTGCACACCGTCCTCACAGCCTCCCTCTACACACCGTCCTCACAG CCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTCAC AGCCTCCCTCTACACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTC ACAGCCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCATCC TCACAGCCTCCCTCTGCACACCGTCCTCACGGCCTCCCTCTGCACACCGT CCTCACGGCCTCCCTCTGCACACCGTCCTCACGGCCTCCCTCTACACACC GTCCTCACGGCCTCCCTCTGCACACCGTCCTCACGGCCTCCCTCTGCACA CCGTCCTCACGGCCTCCCTCTGCACACCATCCTCACAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45898308	A A	AGCCTCCC others(409): Show AGCCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTC ACAGCCTCCCTCTACACACCGTCCTCACAGCCTCCCTCTGCACACCGTCC TCACAGCCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTACACACCGT CCTCACAGCCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACC GTCCTCACAGCCTCCCTCTGCACACCATCCTCACAGCCTCCCTCTGCACA CCGTCCTCACGGCCTCCCTCTGCACACCGTCCTCACGGCCTCCCTCTGCA CACCGTCCTCACGGCCTCCCTCTACACACCGTCCTCACGGCCTCCCTCTG CACACCGTCCTCACGGCCTCCCTCTGCACACCGTCCTCACAGCCTCCCTC TGCACACCATCCTCACG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	245	0.0041	416	c.166 others(433): Show c.166-1290_166-1289insCCTCCCTCTGCACACCGTCCTCACAGCC TCCCTCTGCACACCGTCCTCACAGCCTCCCTCTACACACCGTCCTCACAG CCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTCAC AGCCTCCCTCTACACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTC ACAGCCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCATCC TCACAGCCTCCCTCTGCACACCGTCCTCACGGCCTCCCTCTGCACACCGT CCTCACGGCCTCCCTCTGCACACCGTCCTCACGGCCTCCCTCTACACACC GTCCTCACGGCCTCCCTCTGCACACCGTCCTCACGGCCTCCCTCTGCACA CCGTCCTCACAGCCTCCCTCTGCACACCATCCTCACGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(409): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATATATCTATCGATAGATAGATAGATGTATCTATCGATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	321	0.0031	416	c.-26 others(427): Show c.-2680_-2679insGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATCGA TAGATACATCTATCTATCTATCGATAGATATATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PFKFB3_chr10_6197932_6240532	6206842	G G	GCAGCCAG others(409): Show GCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCA GAGACACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA CATCCCAGACGATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACT GGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCGGG CAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCT CACATCCCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGA CTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCG GGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTC CTCACATCCCAGACGAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0066 a0001c0003t0066	a0001c0003t0066g0257 a0001c0003t0066g0257	1	348	0.0029	416	c.76+ others(431): Show c.76+3506_76+3507insCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACGATGGGCGGCCAGGCAGAGACACTCCTCACTTTCCAGACTGGGCAGC CAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGAC ACTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCC CAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGGCA GCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCCGGGCAGAG ACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT CCCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTTCCAGACTGGG CAGCCAGGCAGAGGGGCTCCTCACATCCCAGACGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14			chr10	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(409): Show GGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGG GGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAG AGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02647.hp2 others(6): Show HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02886.hp2 HG03453.hp1 HG03453.hp2 NA18522.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0078 a0001c0001t0001g0119 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0078 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0002g0014 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0089	9	37	0.2432	416	c.53 others(427): Show c.5377_*5378insGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAG GAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(409): Show GGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGG GGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAG AGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02647.hp2 others(5): Show HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG03453.hp1 HG03453.hp2 NA18522.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0004 a0007c0017 a0001c0001 a0002c0004 a0007c0017	a0001c0001t0005 a0002c0004t0003 a0002c0004t0005 others(1): Show a0001c0001t0005 a0002c0004t0003 a0002c0004t0005 a0007c0017t0003	a0001c0001t0005g0108 a0002c0004t0003g0179 a0002c0004t0003g0181 others(5): Show a0001c0001t0005g0108 a0002c0004t0003g0179 a0002c0004t0003g0181 a0002c0004t0003g0196 a0002c0004t0005g0040 a0002c0004t0005g0041 a0002c0004t0005g0043 a0007c0017t0003g0176	8	25	0.3200	416	c.262 others(431): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCT CCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCC CCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCC TCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(409): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACAC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19085.hp2 HG00544.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0148 a0001c0003t0001g0142 a0001c0002t0001g0148 a0001c0003t0001g0142	2	59	0.0339	416	c.173 others(433): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(409): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACACCCGGC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0128 a0001c0028t0001g0128	1	58	0.0172	416	c.173 others(433): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCC GGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCC GCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCGCTCACACCGCCCCGCTCACCCCGGCCCCGCTCACCCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCC GCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU6F1_chr12_51181936_51223062	51197043	T T	TGTCTACC others(409): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTC TACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTC CAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACC GGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGG GCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCT GGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTCCAGGGCTA GGGGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGAT GGTTTCCAGGGCTAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0069 a0010c0011t0001g0069	1	146	0.0068	416	c.847 others(431): Show c.847-117_847-116insCCCTAGCCCTGGAAACCATCCAGCCGGTAG ACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAAC CATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCC CTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATC CAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAG CCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGC CGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGACCCCTAGCCCT GGAAACCATCCAGCCGGTAGACCCCTAGCCCTGGAAACCATCCAGCCGGT AGACCCCTAGCCCTGGAAACCATCCAGCCGGTAGAC	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10			chr12	TogoVar
PRDM16_chr1_3064203_3443621	3163273	G G	GCGCAGAA others(409): Show GCGCAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAG AAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTGCGCAGAA GCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGC CCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCC CCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCA TGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCCGGCTCT AGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGCATGGTCTAG AGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCCGGCTCTAGAGGGCT TTGGGAGAGGGGATGTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0100 a0001c0001t0070g0100	1	164	0.0061	416	c.38- others(433): Show c.38-22840_38-22839insCGGCTCTAGAGGGCTTTGGGAGAGGGGA TGTGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATG TGCGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTC CGCAGAAGCCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCG CAGAAGCCCCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAG CCCCTGGCATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCC CCCGGCTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCTGGC ATGGTCTAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCCCGGCTC TAGAGGGCTTTGGGAGAGGGGATGTCCGCAGAAGCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855369	A A	ACACACAC others(409): Show ACACACACCATCCTCCACACACACCATGCTCCACACACCACCCTCCACAC ACCACCCTCTACCACCCTCCACACACCACCATCCACACACACCACGCTCC ACACACACCGCCCTCCACACACACCATCCTCCACACACACCATCCTCCAC ACACACCACCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACAC ACACCGCCCTCCACACACACCATCCTCCACACACACCACCCTCCACACAC ACCACCCTCCACACACACCACCCTCCACACACACCACGCTCCACACACAC CGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACACCA CCCTCCACACACACCACCCTCCACACACACCACCCTCCACACACCACCCT CCACACACACCACCCTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	247	0.0040	416	c.114 others(435): Show c.114+21137_114+21138insGAGGGTGGTGTGTGTGGAGGGTGGTG TGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTG TGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTG GAGCGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGA GGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGG GCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGAT GGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGG TGTGTGTGGATGGTGGTGTGTGGAGGGTGGTAGAGGGTGGTGTGTGGAGG GTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(409): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACACACAGGTCCACACACATCCACACACAGGCCCACACACATCCACACA CACAGGTCCACACATATCCACACACACAGGTCCACACATATACACATACA CAGTTCCACACACAACCACACACAGGTCCACACACATCCACATACAGGTC CACGCACATACACACACAGGTCCACACACATACACATACACAGTTCCACA CACATCCACACACAAGTCCACACACATCCACACGCACGTCCACGCATCCA CACACAGGTCCACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0070 a0003c0005t0001g0070	1	23	0.0435	416	c.165 others(435): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCGTGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTGTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GTGTGTGTGGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGT GTGTGGATGTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGT GTATGTGTGTGGGCCTGTGTATGTGTGTGGACCTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51696870	T T	TACACACA others(409): Show TACACACAGGTCCACACACATACACAGGCCCACACACATACACACACAGG TCCACGCACATCCACACACACCGGTCCACGCACATCCACACACAGGTCCA CACACATACACACACATACGTCCACACACATCCACACACACACACACACA CACACACAGGTCCACACACATCCACACACAGGCCCACACACATCCACACA CACAGGTCCACACATATCCACACACACAGGTCCACACATATACACATACA CAGTTCCACACACAACCACACACAGGTCCACACACATCCACATACAGGTC CATGCACATACACACACAGGTCCACACACATACACATACACAGTTCCACA CACATCCACACACAAGTCCACACACATCCACACGCACGTCCACGCATCCA CACACAGGTCCACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0051 a0003c0003t0001g0051	1	23	0.0435	416	c.165 others(435): Show c.165-42111_165-42110insGTGTGTGGACCTGTGTGTGGATGCGT GGACGTGCGTGTGGATGTGTGTGGACTTGTGTGTGGATGTGTGTGGAACT GTGTATGTGTATGTGTGTGGACCTGTGTGTGTATGTGCATGGACCTGTAT GTGGATGTGTGTGGACCTGTGTGTGGTTGTGTGTGGAACTGTGTATGTGT ATATGTGTGGACCTGTGTGTGTGGATATGTGTGGACCTGTGTGTGTGGAT GTGTGTGGGCCTGTGTGTGGATGTGTGTGGACCTGTGTGTGTGTGTGTGT GTGTGTGTGGATGTGTGTGGACGTATGTGTGTGTATGTGTGTGGACCTGT GTGTGGATGTGCGTGGACCGGTGTGTGTGGATGTGCGTGGACCTGTGTGT GTATGTGTGTGGGCCTGTGTATGTGTGTGGACCTGTGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
RAB11FIP3_chr16_420649_528011	467834	C C	CTCAGGGA others(409): Show CTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCGTTGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCTGAGGCCTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCAGGGGCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02615.hp1 others(4): Show HG02257.hp1 HG02559.hp2 HG02615.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0037 a0001c0001t0013 a0001c0001t0037	a0001c0001t0013g0027 a0001c0001t0013g0030 a0001c0001t0013g0031 others(4): Show a0001c0001t0013g0027 a0001c0001t0013g0030 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0013g0034 a0001c0001t0013g0035 a0001c0001t0037g0033	7	290	0.0241	416	c.809 others(433): Show c.809-3446_809-3445insAGGGGCGTCAGGGAGGAGGTGCAGGGGC CTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCGTTGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCTGGG GCGTCAGGGAGGAGGTGCTGAGGCCTCAGGGAGGAGGTGCAGGGGCCTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGAAGA others(409): Show AGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGGG GGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGG GGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGA GGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	30	0.0333	416	c.36 others(427): Show c.3638_*3639insGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGG GGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGG GGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAG GGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGG GGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGA AGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAG GAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(409): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGGG GAGAGGGGGGAGGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	30	0.0333	416	c.36 others(427): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGAGGAG GGAGGAGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGAGGAGGGGAGG GGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGA AGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAG GAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(409): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACATATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTG TATACATACATACGTATGTATGTGTATACATACGTATGTATGTGTATACA TACATACGTATGTATGTGTACACATACGTATGTATGTGTACACATACATA CGTATGTATGTGTACACATACGTATGTATGTGTACACATACATACGTATG TATGTGTACACATACGTATGTATGTGTACACATACATACGTATGTATGTG TACACATACGTATGTATGTGTACACATACATATGTATGTATGTGTACACA TACATAGGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	377	0.0027	416	c.-23 others(427): Show c.-2328_-2327insGTACACATACCTATGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTGTACACATACATACGTATGTGTACACATACATACGTATGTATGTGT ACACATACATACGTATGTGTACACATACATACGTATGTATGTGTACACAT ACATACGTATGTGTACACATACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACGTATGTATGTATACACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATACATATGTATGCATACACATACATATGTATGCATACACAT ACATATGTATGCATACACATACATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759538	C C	CATATGTA others(409): Show CATATGTATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTACA CATACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACG TATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTA TGTGTACACATACATATGTATGTATGTGTACACATACATATGTATGTGTA CACATACATATGTATGTATGTGTACACATACATATGTATGTATGTGTATA CATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	423	0.0024	416	c.-23 others(427): Show c.-2354_-2353insACACATACATACGTATGTATACACATACATACAT ATGTATGTGTACACATACATACATATGTATGTGTACACATACATATGTAT GTGTACACATACATACATATGTATGTGTACACATACATACGTATGTGTAC ACATACATACGTATGTATGTATACACATACATACGTATGTGTACACATAC ATACGTATGTATGTATACACATACATACGTATGTGTACACATACATACGT ATGTATGTATACACATACATACGTATGTATACACATACATACATACGTAT GTATACACATACATACATACGTATGTATACACATACATACATACGTATGT ATACACATACATACATACGTATGTATACACATACATACATACGTATGCAT ACACATACATATGTATGCATACACATACATAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2129		chr3	TogoVar
RGPD5_chr2_109789305_109862705	109794584	G G	GGGGGGGA others(409): Show GGGGGGGAGGGGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCG GCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGG CCCGGCCGGGGGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGG GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCG GCGGCGGCGGCGGCCTCGTCCCGGCCGGGGGGCGGCGGCGGCGGCGGCCT CGGCCCGGCCGGGGGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0026 a0003c0003t0002g0026	1	28	0.0357	416	c.72+ others(427): Show c.72+49_72+50insGGGGAGGGGGCGGCGGCGGCGGCCTCGGCCCGGC CGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCCGGCCCGGCCGGGGGGCGG CGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGC GGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCGGCGGCG GCCTCGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCCTCGGCCCCGG CCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCC GGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCC CGGCCGGGGGGCGGCGGCGGCGGCGGCCTCGTCCCGGCCGGGGGGCGGCG GCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF213_chr17_80255852_80403794	80355600	G G	GGGAAGAA others(409): Show GGGAAGAAGTGGGGTGAACAGGATTGGGGGCTTATGGAGGAAGAAGCGGG GTGAACGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAAGAAGTGGGGT GACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGG GGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGG AAGAAGCGGGGTGACCGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTG ACCGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTGAACGGGAATGGGG GCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGGAA GAAGCGGGGTGAATGGGAATCGGGGCTCACGGAGGAAGAGGGGTGACCGG GAATGGGGGCTCACAGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0101 a0101	a0101c0106 a0101c0106	a0101c0106t0009 a0101c0106t0009	a0101c0106t0009g0032 a0101c0106t0009g0032	1	179	0.0056	416	c.108 others(437): Show c.10862+1032_10862+1033insTGGGGTGAACAGGATTGGGGGCTT ATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGAGGAAGAAG CGACGAAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTG GGGTGAACAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAA TGGGGGCTTACAGGGGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTACA GGGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTACGGAGGAAGAAGCGG GGTGAACGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAAT CGGGGCTCACGGAGGAAGAAGCGGGGTGAATGGGAATCGGGGCTCACGGA GGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(409): Show GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAAGAAGTGGGGT GACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGG GGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGG AAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTG ACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGG GCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGGAA GAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCGG GATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02132.hp2 HG02040.hp1 HG02132.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0010 a0001c0004t0006 a0001c0004t0010	a0001c0004t0006g0039 a0001c0004t0010g0040 a0001c0004t0006g0039 a0001c0004t0010g0040	2	244	0.0082	416	c.108 others(437): Show c.10862+1076_10862+1077insAATGGGAATGGGGGCTTACGGGGG AAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAA GAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAA CAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAG AAGCGGGGTGACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAAT GGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCT CACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCG GGGTGACCGGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	304161	G G	GATGGGGA others(409): Show GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCACTGACCGTGTTTCA GGAAAGAGATGGGGCAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTAT TGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTA CTGAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATG GGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACC GTGTCTCAGGAAAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	102	0.0098	416	c.351 others(435): Show c.351+15258_351+15259insTCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTGCCCCATCTCTTTCCTGAAACACG GTCAGTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCC ACCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGT ACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAA TAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289357	C C	CCGTGTCT others(409): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0035 a0002c0003t0002g0035	1	260	0.0038	416	c.166 others(433): Show c.1663-913_1663-912insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289747	C C	CCCCGTGT others(409): Show CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCATGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	267	0.0037	416	c.166 others(433): Show c.1663-515_1663-514insGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCATGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	261200	A A	ACAGCATT others(409): Show ACAGCATTACTGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCCCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAG CATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCC GCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCT CCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCG TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18990.hp1 NA18612.hp2 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0002t0001g0002 a0001c0002t0001g0014	2	258	0.0078	416	c.47 others(427): Show c.4780_*4781insCAGCATTACTGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCCCCTGCCAGAGCATTACCGTGTGAGCTC CGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCAT TACCGTGTGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCC TCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACC GTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCC GCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGT GAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCA GAGCATTACCGTGTGAGCTCCGCCTCCCGTCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4119		chr5	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(409): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGGGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTC CCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0072 a0004c0003t0003g0072	1	48	0.0208	416	c.199 others(435): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGACGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(409): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0026 a0026	a0026c0028 a0026c0028	a0026c0028t0049 a0026c0028t0049	a0026c0028t0049g0035 a0026c0028t0049g0035	1	48	0.0208	416	c.199 others(435): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACAC AGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(409): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACAC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	67	0.0149	416	c.43 others(427): Show c.4343_*4344insGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGC GGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGTGTGA GCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(409): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC CCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGG CCCCGCTCACACCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	67	0.0149	416	c.43 others(427): Show c.4343_*4344insGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GTGAGCGGGGCCGGGGTGAGCGGGGCGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGC CGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAG CGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(409): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACACCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	67	0.0149	416	c.43 others(427): Show c.4343_*4344insGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGC GGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGG GGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SLC25A21_chr14_36672921_37177606	36789846	A A	ATTTAATA others(409): Show ATTTAATATTATATATATTTATATATATTTATATATATATTTATATATAT TTATATATTTATATATATTTATATATATATTTATATATATTTATATATTT ATATATATTTATATATATATATATTTATATTTATATATTTATATATATTT ATATATAATATATTTTTATTATATATATATTTATATATATATAATATAAT ATATATATTATATATATAATATATATAAATATATTATATATATTATATAT AATATATTTATATATATTTATATATTATATATATAATATATTTATATATA TATATATTATATATATAATATATTTATATATATTTATATATTTATATATA ATATATTTTTATATATTTTTATATAAATTTATATATATATTTTATATATA TTTATATATAAATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	138	0.0072	416	c.203 others(435): Show c.203+24071_203+24072insATATATTTATATATAAATATATATAA AATATATATATAAATTTATATAAAAATATATAAAAATATATTATATATAA ATATATAAATATATATAAATATATTATATATATAATATATATATATATAA ATATATTATATATATAATATATAAATATATATAAATATATTATATATAAT ATATATAATATATTTATATATATTATATATATAATATATATATTATATTA TATATATATAAATATATATATAATAAAAATATATTATATATAAATATATA TAAATATATAAATATAAATATATATATATATAAATATATATAAATATATA AATATATATAAATATATATATAAATATATATAAATATATAAATATATATA AATATATATATAAATATATATAAATATATATAATATTAAA	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC27A5_chr19_58493333_58516992	58502500	T T	TAGAGTAG others(409): Show TAGAGTAGTGAGTGAGTGGATGGATGGGTGGACAGTTAGAGTAGTGAGTG AGTAGATGGATGGGTGGACAGAGTAGTGAGTGAGAAGATGGATGTGTGGA CAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTG AGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTGGATGGATGGG TGAACAGTTAGAGTAGTGAGTGAGTAGATGGATGTGTGGACAGTTAGAGT AGTGAGTGAGAAGATGGATGGGTGAACAGAGTAGTGAGTGAGAAGATGGA TGGGTGAACAGTTAGAGTAGTGAGTGAGTGGATGGATGGGTGAACAGTTA GAGTAGTGAGTGAGTAGATGGATGTGTGGACAGTTAGAGTAGTGAGTGAG AAGATGGATGGGTGAAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	417	0.0024	416	c.105 others(435): Show c.1058-1091_1058-1090insGTTCACCCATCCATCTTCTCACTCAC TACTCTAACTGTCCACACATCCATCTACTCACTCACTACTCTAACTGTTC ACCCATCCATCCACTCACTCACTACTCTAACTGTTCACCCATCCATCTTC TCACTCACTACTCTGTTCACCCATCCATCTTCTCACTCACTACTCTAACT GTCCACACATCCATCTACTCACTCACTACTCTAACTGTTCACCCATCCAT CCACTCACTCACTACTCTAACTGTCCACCCATCCATCTACTCACTCACTA CTCTAACTGTTCACCCATCCATCTTCTCACTCACTACTCTGTCCACACAT CCATCTTCTCACTCACTACTCTGTCCACCCATCCATCTACTCACTCACTA CTCTAACTGTCCACCCATCCATCCACTCACTCACTACTCT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(409): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATTATATAAATA TAAATATATTATATATTATATAAATATAAATATATTATATATTATATAAA TATAAATATATTATATATTATATATAAATATAAATATATTATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTAATA TATTATATATAATATAAATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18747.hp2 HG01981.hp1 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0307 a0002c0002t0002g0257 a0002c0002t0001g0307 a0002c0002t0002g0257	2	133	0.0150	416	c.-70 others(433): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA ATATATTTATATTTATATATAATATATAATATATTTATATTTATATAATA TATAATATATTTATATTTATATAATATATAATATATTTATATTTATATAA TATATAATATATTTATATTTATATATAATATATATAATATATTTATATTT ATATATAATATATATAATATATTTATATTATATATAATATATATAATATA TTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMOC2_chr6_168436184_168672992	168560610	G G	GAGGCTCT others(409): Show GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCC TGAGACACAAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCT GCCCTGAGACACAAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTGCCCTGAGACACA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	167	0.0060	416	c.637 others(435): Show c.637+11420_637+11421insGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACAAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTG TCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCGTTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560987	C C	CATTCTTG others(409): Show CATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTC TCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACG AGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACA CGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	136	0.0074	416	c.637 others(435): Show c.637+11784_637+11785insATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar

Search by Variant

Search

Search Results