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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KIF25_chr6_167992671_168050091	167997290	T T	TGGGGGAA others(500): Show TGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGA GATGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0335 a0003c0004t0005g0335	1	331	0.0030	507	c.-21 others(518): Show c.-2179_-2178insGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGC GGGGGAATCTGCAGAGATGGGGG		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					380		chr6	TogoVar
LAMA1_chr18_6936742_7122797	6952910	G G	GCCATGGG others(500): Show GCCATGGGAGCCATGTCTGCCTGTGTCCAGTGGATCCACACCATGAGAGC CATGTCTGCCTGTGTCCAGTGGATCCACACCATGGGAGCCATGTCTGCCT GTGTCTGGCGGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTGG ATCCACCCCATGGGAGCCATGTCTGCCTATGTCCGGCGGATCCACGCCAT GGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCATAGGAGCCATGT CTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTC CAGCGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCA CACCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCATAGGAG CCATGTCTGCCTGTGTCCAGCGGATCCACGCCATGGGAGCCATGTCTGCC TGTGTCCAGCAGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTG GATCCACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp1 HG02818.hp2 others(1): Show HG01106.hp1 HG02257.hp1 HG02818.hp2 HG03130.hp2	a0008 a0014 a0061 others(1): Show a0008 a0014 a0061 a0093	a0008c0132 a0014c0128 a0061c0209 others(1): Show a0008c0132 a0014c0128 a0061c0209 a0093c0049	a0008c0132t0001 a0014c0128t0001 a0061c0209t0001 others(1): Show a0008c0132t0001 a0014c0128t0001 a0061c0209t0001 a0093c0049t0001	a0008c0132t0001g0272 a0014c0128t0001g0180 a0061c0209t0001g0195 others(1): Show a0008c0132t0001g0272 a0014c0128t0001g0180 a0061c0209t0001g0195 a0093c0049t0001g0206	4	263	0.0152	507	c.820 others(526): Show c.8208-1940_8208-1939insTGTGGATCCACTGGACACAGGCAGAC ATGGCTCCCATGGCGTGGATCTGCTGGACACAGGCAGACATGGCTCCCAT GGCGTGGATCCGCTGGACACAGGCAGACATGGCTCCTATGGCGTGGATCC ACTGGACACGGGCAGACATGGCTCCCATGGTGTGGATCCACTGGACACGG GCAGACATGGCTCCCATGGCGTGGATCCGCTGGACACGGGCAGACATGGC TCCCATGGCGTGGATCCACTGGACACAGGCAGACATGGCTCCTATGGCGT GGATCCACTGGACACGGGCAGACATGGCTCCCATGGCGTGGATCCGCCGG ACATAGGCAGACATGGCTCCCATGGGGTGGATCCACTGGACACAGGCAGA CATGGCTCCCATGGCGTGGATCCGCCAGACACAGGCAGACATGGCTCCCA TGGTGTGGATCCACTGGACACAGGCAGACATGGCTCTCATGGTGTGGATC CACTGGACACAGGCAGACATGGCTCCCATGG		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62						chr18	TogoVar
LAMA1_chr18_6936742_7122797	6952910	G G	GCCATGGG others(500): Show GCCATGGGAGCCATGTCTGCCTGTGTCCAGTGGATCCACACCATGAGAGC CATGTCTGCCTGTGTCCAGTGGATCCACACCATGGGAGCCATGTCTGCCT GTGTCTGGCGGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTGG ATCCACCCCATGGGAGCCATGTCTGCCTATGTCCGGCGGATCCACGCCAT GGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCATAGGAGCCATGT CTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTC CAGCGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCA CACCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCATAGGAG CCATGTCTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGTCTGCC TGTGTCCAGCAGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTG GATCCACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02622.hp2 others(2): Show HG01884.hp2 HG02451.hp2 HG02622.hp2 HG02818.hp1 HG02965.hp1	a0003 a0004 a0068 others(1): Show a0003 a0004 a0068 a0079	a0003c0105 a0004c0011 a0068c0178 others(1): Show a0003c0105 a0004c0011 a0068c0178 a0079c0033	a0003c0105t0001 a0004c0011t0001 a0068c0178t0002 others(1): Show a0003c0105t0001 a0004c0011t0001 a0068c0178t0002 a0079c0033t0002	a0003c0105t0001g0262 a0004c0011t0001g0193 a0004c0011t0001g0265 others(2): Show a0003c0105t0001g0262 a0004c0011t0001g0193 a0004c0011t0001g0265 a0068c0178t0002g0089 a0079c0033t0002g0115	5	264	0.0189	507	c.820 others(526): Show c.8208-1940_8208-1939insTGTGGATCCACTGGACACAGGCAGAC ATGGCTCCCATGGCGTGGATCTGCTGGACACAGGCAGACATGGCTCCCAT GGCGTGGATCCACTGGACACAGGCAGACATGGCTCCTATGGCGTGGATCC ACTGGACACGGGCAGACATGGCTCCCATGGTGTGGATCCACTGGACACGG GCAGACATGGCTCCCATGGCGTGGATCCGCTGGACACGGGCAGACATGGC TCCCATGGCGTGGATCCACTGGACACAGGCAGACATGGCTCCTATGGCGT GGATCCACTGGACACGGGCAGACATGGCTCCCATGGCGTGGATCCGCCGG ACATAGGCAGACATGGCTCCCATGGGGTGGATCCACTGGACACAGGCAGA CATGGCTCCCATGGCGTGGATCCGCCAGACACAGGCAGACATGGCTCCCA TGGTGTGGATCCACTGGACACAGGCAGACATGGCTCTCATGGTGTGGATC CACTGGACACAGGCAGACATGGCTCCCATGG		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62						chr18	TogoVar
LAMA1_chr18_6936742_7122797	6952910	G G	GCCATGGG others(500): Show GCCATGGGAGCCATGTCTGCCTGTGTCCAGTGGATCCACACCATGAGAGC CATGTCTGCCTGTGTCCAGTGGATCCACACCATGGGAGCCATGTCTGCCT GTGTCTGGCGGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTGG ATTCACCCCATGGGAGCCATGTCTGCCTATGTCCGGCGGATCCACGCCAT GGGAGCCATGTCTGCCTGTGTCCAGTGGATCCACGCCATAGGAGCCATGT CTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGTCTGCCTGTGTC CAGCGGATCCACGCCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCA CACCATGGGAGCCATGTCTGCCCGTGTCCAGTGGATCCACGCCATAGGAG CCATGTCTGCCTGTGTCCAGTGGATCCACGCCATGGGAGCCATGTCTGCC TGTGTCCAGCAGATCCACGCCATGGGAGCCATGTCTGCCTGTGTCCAGTG GATCCACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG02055.hp2 others(4): Show HG01175.hp2 HG01891.hp2 HG02055.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 NA20300.hp1	a0014 a0046 a0054 others(4): Show a0014 a0046 a0054 a0058 a0088 a0092 a0120	a0014c0141 a0046c0168 a0054c0055 others(4): Show a0014c0141 a0046c0168 a0054c0055 a0058c0050 a0088c0166 a0092c0211 a0120c0036	a0014c0141t0001 a0046c0168t0001 a0054c0055t0001 others(4): Show a0014c0141t0001 a0046c0168t0001 a0054c0055t0001 a0058c0050t0001 a0088c0166t0001 a0092c0211t0001 a0120c0036t0003	a0014c0141t0001g0270 a0046c0168t0001g0239 a0054c0055t0001g0171 others(4): Show a0014c0141t0001g0270 a0046c0168t0001g0239 a0054c0055t0001g0171 a0058c0050t0001g0254 a0088c0166t0001g0172 a0092c0211t0001g0277 a0120c0036t0003g0127	7	266	0.0263	507	c.820 others(526): Show c.8208-1940_8208-1939insTGTGGATCCACTGGACACAGGCAGAC ATGGCTCCCATGGCGTGGATCTGCTGGACACAGGCAGACATGGCTCCCAT GGCGTGGATCCACTGGACACAGGCAGACATGGCTCCTATGGCGTGGATCC ACTGGACACGGGCAGACATGGCTCCCATGGTGTGGATCCACTGGACACGG GCAGACATGGCTCCCATGGCGTGGATCCGCTGGACACAGGCAGACATGGC TCCCATGGCGTGGATCCACTGGACACAGGCAGACATGGCTCCTATGGCGT GGATCCACTGGACACAGGCAGACATGGCTCCCATGGCGTGGATCCGCCGG ACATAGGCAGACATGGCTCCCATGGGGTGAATCCACTGGACACAGGCAGA CATGGCTCCCATGGCGTGGATCCGCCAGACACAGGCAGACATGGCTCCCA TGGTGTGGATCCACTGGACACAGGCAGACATGGCTCTCATGGTGTGGATC CACTGGACACAGGCAGACATGGCTCCCATGG		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	57/62						chr18	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(500): Show GGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAAGGAAGGGAGGGGA GGGAGGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGA AGGGAGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGA AGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAG GAGGGAGGTGGAAGGAAGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAG GGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAA AGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGG GAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAG GGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGA AGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAG GGAAAGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0034 a0034	a0034c0045 a0034c0045	a0034c0045t0002 a0034c0045t0002	a0034c0045t0002g0006 a0034c0045t0002g0006	1	8	0.1250	507	c.507 others(526): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGGAGGGAGGGAG GGGAGGGAAGGAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAGGAAGGAGG GTAAGGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGA AGGGAGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGA GGGAAGAAGGGAGGAAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAGGA AGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGA GGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAA AGGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGG AAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAG GGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGG GGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LINGO2_chr9_27932617_29218601	28189533	G G	GAGGAAGG others(500): Show GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGAGAGGGAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGAAGGGAGGAA GGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGG AAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGA GGAAGGAAGGGAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGG GAGGAAGGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGG AGGGAGGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	36	0.0278	507	c.-36 others(528): Show c.-36+105674_-36+105675insTCCCTCCCTTCCTTCCTCCCTCCC TTCCTTCCTCCCTCCCTTCCTTCCTCCCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCCTTCCTCCCTCCCTTCCTTCCTC CCTTCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCC TCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTC CCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCC TCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTCCC TTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTC TCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCC TCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT		LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6						chr9	TogoVar
LRRC27_chr10_132327193_132386508	132364373	C C	CCACGCTT others(500): Show CCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACCCTTAC ATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACCACACCCATGACCACACCCACACTTACA TCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACC CACGCTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCA CCCACACTTACACCCACGCTTACATCTACCTCCACACCCACGCTTACACC CACCCTTACATCTACCTCCACACCCGCACTTACACCCACGCTTACATCTA CCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACATC TACCTCCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	242	0.0041	507	c.129 others(526): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTTACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACCACACCCA TGACCACACCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACG CTTACATCTACCTCCACACCCACGCTTACACCCACGCTTACATCTACCTC CACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCGCACT TACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACACTTACATCTACCTCCACAC		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC56_chr11_532527_559912	542117	A A	ACCCCACA others(500): Show ACCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTACCCCACACAC CCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTA CCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACG CTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCC ACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACG CCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCC GGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAG TGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACA CCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGT ACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCAC GCTCAGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0033 a0018c0020t0033	a0018c0020t0033g0056 a0018c0020t0033g0056	1	340	0.0029	507	c.265 others(522): Show c.265+531_265+532insACCCCACACACCCACGCCAGTACCCCCGGC ACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGC CCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCC ACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACC CCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCT CAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCAC ACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCC AGTACCCCCGGCACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGG CACGCTCAGTGCCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTG CCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTGCCCCACACACC CACGCCAGTACCCCCGGCACGCTCAGT		LRRC56	ENSG00000161328.11	transcript	ENST00000270115.8	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
MBP_chr18_76973833_77137783	77117893	G G	GGGGTCAG others(500): Show GGGGTCAGTGGGTTGGGGTGGGACAGGGACAGGGGGTTGGGGCGGGATGG GGGACAGGGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGG GACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGA CAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGAC AGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACA GTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGT GGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGG GTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGACAGGGGGT TGGGGCGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTT GGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGG GGCGGGAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	364	0.0027	507	c.-25 others(526): Show c.-25-12608_-25-12607insATCCCGCCCCAACCCACTGTCCCCAT CCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCC CACCCCAACCCACTGTCCCCCATCCCGCCCCAACCCCCTGTCCCCGTCCC ACCCCAACCCACTGTCCCCATCCCACTCCAACCCACTGTCCCCATCCCGC CCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCC CAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCA ACCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAA CCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAAC CCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCC ACTGTCCCCATCCCACCCCAACCCCCTGTCCCCCATCCCGCCCCAACCCC CTGTCCCTGTCCCACCCCAACCCACTGACCC		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8						chr18	TogoVar
MBP_chr18_76973833_77137783	77117893	G G	GGGGTCAG others(500): Show GGGGTCAGTGGGTTGGGGTGGGACAGGGACAGGGGGTTGGGGCGGGATGG GGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGG GACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGA CAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGAC AGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACA GTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGT GGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGG GTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGACAGGGGGT TGGGGCGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTT GGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGG GGCGGGAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18972.hp1 NA18992.hp2 others(3): Show NA18961.hp1 NA18972.hp1 NA18992.hp2 NA18995.hp1 NA19004.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 others(2): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0002t0002 a0001c0002t0019	a0001c0001t0006g0289 a0001c0001t0014g0288 a0001c0001t0016g0378 others(3): Show a0001c0001t0006g0289 a0001c0001t0014g0288 a0001c0001t0016g0378 a0001c0002t0002g0291 a0001c0002t0002g0296 a0001c0002t0019g0290	6	369	0.0163	507	c.-25 others(526): Show c.-25-12608_-25-12607insATCCCGCCCCAACCCACTGTCCCCAT CCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCC CACCCCAACCCACTGTCCCCCATCCCGCCCCAACCCCCTGTCCCCGTCCC ACCCCAACCCACTGTCCCCATCCCACTCCAACCCACTGTCCCCATCCCGC CCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCC CAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCA ACCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAA CCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAAC CCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCC ACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCATCCCGCCCCAACCCC CTGTCCCTGTCCCACCCCAACCCACTGACCC		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8						chr18	TogoVar
MBP_chr18_76973833_77137783	77117893	G G	GGGGTCAG others(500): Show GGGGTCAGTGGGTTGGGGTGGGACAGGGACAGGGGGTTGGGGCGGGATGG GGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGG GACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGA CAGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGAC AGTGGGTTGGGGTGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACA GTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGT GGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGG GTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGACAGGGGGT TGGGGCGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTT GGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGG GGCGGGAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0321 a0001c0001t0006g0321	1	364	0.0027	507	c.-25 others(526): Show c.-25-12608_-25-12607insATCCCGCCCCAACCCACTGTCCCCAT CCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCC CACCCCAACCCACTGTCCCCCATCCCGCCCCAACCCCCTGTCCCCGTCCC ACCCCAACCCACTGTCCCCATCCCACTCCAACCCACTGTCCCCATCCCGC CCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCC CAACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCA ACCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAA CCCACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAAC CCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCC ACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCGCCCCAACCCC CTGTCCCTGTCCCACCCCAACCCACTGACCC		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8						chr18	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TGAGACAG others(500): Show TGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGAT CTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGTA ATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTCT AATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAAA TATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAAG ATAACAAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCAC AAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTTG TTTGTTTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0126 a0013c0012t0001g0126	1	122	0.0082	507	c.753 others(524): Show c.753+3136_753+3137insCAAACAAACAAACAAAAAACAAACCAAA AAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCC TAATTCAAATCTGATTTCTTTGTTTGTTATCTTGTAGCTTAGAAGCAAGA ATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAA AATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGC CAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGC GGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGA GAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCA TGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAA CCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAG CCTGGGCAACAAGAGTGAAATTCTGTCTC		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29						chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314935	T T	TGAGACAG others(500): Show TGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGAT CTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGTA ATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTCT AATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAAA TATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAAG ATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCAC AAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTTG TTTGTTTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	120	0.0083	507	c.753 others(524): Show c.753+3132_753+3133insCAAACAAACAAACAAAAAACAAACCAAA AAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCC TAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGCAAGA ATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAA AATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGC CAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGC GGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGA GAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCA TGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAA CCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAG CCTGGGCAACAAGAGTGAAATTCTGTCTC		MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29						chr3	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(500): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATTAA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATATATAATATAATATATTATATATTATATATAATATATATAATAT ATAATATATTATATATTATATATAATATATATAATATATAAATATATTAT ATAATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0298 a0001c0002t0001g0298	1	263	0.0038	507	c.262 others(526): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATTAATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATATATAATATAATATATTATAT ATTATATATAATATATATAATATATAATATATTATATATTATATATAATA TATATAATATATAAATATATTATATAATATA		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19						chr1	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATACAT others(500): Show ATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTAT TTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTATAT ACATAAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTA TATATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACAT AAAATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTATATA TATTTTATATACATAAAATCTTATTTTATATATATTTTATACATAAAATC TTATTTTATATATATTTTATATATAAAATCTTATTTTATATATATTTTAT ATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATATAAA ATCTTTATATATATTTTATATATATAAAATCTTTATATATATTTTATATA TATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTAT ATATATTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	277	0.0036	507	c.-5+ others(522): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGAT TTTATATATATAAAATATATATAAAGATTTTATATATATAAAATATATAT AAAATATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGA TTTTATATATAAAATATATATAAAATAAGATTTTATGTATAAAATATATA TAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGT ATATAAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAA ATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATAT AAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAA GATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAA TATATATAAAATAAGATTTTATGTATA		MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9						chr8	TogoVar
MUC6_chr11_1007823_1041718	1018170	G G	GTGGTGGT others(500): Show GTGGTGGTAGAATTTGTGGTGATTTCTGGATGGTGTGTGGAGGAAGCATG GGAGAGGAGGGATGTAGAGGTTTTGGCTGTGCTGAAGGAGCTGTGGACTT GGCTGGTCCTACTGGTGGTCACTGTTATTAGTGGGGCTGTGTGTGTGGAC CCTGTGGCCATGAGCGTTGTCAGTGGAGGAATGGTGCCTGTTGACGTTGA GTGGTTGGAGGCAGAAGTGGACATCTGTGGGTGGGTTGGGGTGATGACTG TGTGAGTACTTGGAGTCACCGATGAGGTGGAGAAAGGTGGAACATGAATG GGAAGTGTGATGTGAGCTTGTGATGGGGTTGGATAGGTAGTGGTGGTCTT GAGAGATGTTGCAGTCATACGACCTGTGGAAGAGAGGGGACTGCTCCTGG TAGGTGAAGAGTGTGTTGTGATGGGTGTGGGTGGCCTGCTACTGGTGGCC GAGGTGGTGTGGGTCACAGGGGTGCTGGTGCCTCTACTGGTGGACTTGGG AGTCACGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03831.hp1 HG03831.hp1	a0028 a0028	a0028c0110 a0028c0110	a0028c0110t0001 a0028c0110t0001	a0028c0110t0001g0122 a0028c0110t0001g0122	1	404	0.0025	507	c.463 others(516): Show c.4630_4631insACGTGACTCCCAAGTCCACCAGTAGAGGCACCAGCA CCCCTGTGACCCACACCACCTCGGCCACCAGTAGCAGGCCACCCACACCC ATCACAACACACTCTTCACCTACCAGGAGCAGTCCCCTCTCTTCCACAGG TCGTATGACTGCAACATCTCTCAAGACCACCACTACCTATCCAACCCCAT CACAAGCTCACATCACACTTCCCATTCATGTTCCACCTTTCTCCACCTCA TCGGTGACTCCAAGTACTCACACAGTCATCACCCCAACCCACCCACAGAT GTCCACTTCTGCCTCCAACCACTCAACGTCAACAGGCACCATTCCTCCAC TGACAACGCTCATGGCCACAGGGTCCACACACACAGCCCCACTAATAACA GTGACCACCAGTAGGACCAGCCAAGTCCACAGCTCCTTCAGCACAGCCAA AACCTCTACATCCCTCCTCTCCCATGCTTCCTCCACACACCATCCAGAAA TCACCACAAATTCTACCACCA	p.Thr others(522): Show p.Thr1543_Thr1544insAsnValThrProLysSerThrSerArgGly ThrSerThrProValThrHisThrThrSerAlaThrSerSerArgProPr oThrProIleThrThrHisSerSerProThrArgSerSerProLeuSerS erThrGlyArgMetThrAlaThrSerLeuLysThrThrThrThrTyrPro ThrProSerGlnAlaHisIleThrLeuProIleHisValProProPheSe rThrSerSerValThrProSerThrHisThrValIleThrProThrHisP roGlnMetSerThrSerAlaSerAsnHisSerThrSerThrGlyThrIle ProProLeuThrThrLeuMetAlaThrGlySerThrHisThrAlaProLe uIleThrValThrThrSerArgThrSerGlnValHisSerSerPheSerT hrAlaLysThrSerThrSerLeuLeuSerHisAlaSerSerThrHisHis ProGluIleThrThrAsnSerThrThr	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding	31/33	4693/8016	4630/7320	1544/2439			chr11	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(500): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATTATATATATATATTATATAATATATAATATATTATATATATTA TATAATATATTGTATATTATATAATATATATTATATATAAATATATAATA TATAATATAATATATAATATATTATATATAATATATTATATATTATATAT ATTATATTATATATATTATATTATATATAATATATTATATATAATATATT ATATATTATATATTTATATATAATATATATATAATATATATTATATATTA TATAATATATAATATATTATATATTATATAATATATATAATATATTATAT AATATATA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0011 a0002c0002t0007g0011	1	202	0.0050	507	c.48+ others(522): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATTATATATATATATTATATAATATA TAATATATTATATATATTATATAATATATTGTATATTATATAATATATAT TATATATAAATATATAATATATAATATAATATATAATATATTATATATAA TATATTATATATTATATATATTATATTATATATATTATATTATATATAAT ATATTATATATAATATATTATATATTATATATTTATATATAATATATATA TAATATATATTATATATTATATAATATATAATATATTATATATTATATAA TATATATAATATATTATATAATATATA		NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3						chr21	TogoVar
NFILZ_chr19_8625633_8686151	8656359	A A	AAGCCCAC others(500): Show AAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCT CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACC TCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGCAGCCCAC CTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCCTGCAGCCC ACCTTCTCTCTGAAACCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAG CCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTG CAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTC CTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTC TCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCT TCTCCTGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	337	0.0030	507	c.-16 others(528): Show c.-163-18183_-163-18182insCTTCCCTGAAGCCCACCTTCTCCT GCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCT CCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTT CTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACC TTCTCCTGCAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAACCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCC TGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCT CCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTT CTCCTGCAGCCCACCTTCTCCTGCAGCCCACCT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(500): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0026 a0001c0040t0026	a0001c0040t0026g0061 a0001c0040t0026g0061	1	285	0.0035	507	c.140 others(524): Show c.140+8190_140+8191insACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCTCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTG CCCCGGGAGGGATCCTGAGTGCTCCCCCC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(500): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATAGTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT AATATATATTATATATAAAGTATATATATAATATATATTATATATAAAGT ATATATATAATATATATTATATATATATAAAATATATAATATATATTATA TATATAAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0229 a0001c0003t0003g0229	1	2	0.5000	507	c.730 others(524): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAC TATATATTATATATATTATATATATACTTTATATATAATATATATTATAT ATATTATATATATACTTTATATATAATATATATTATATATATTATATATA TACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(500): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT AATATATATTATATATAAAGTATATATATAATATATATTATATATAAAGT ATATATATAATATATATTATATATATATAAAATATATAATATATATTATA TATATAAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0302 a0001c0003t0006g0302	1	2	0.5000	507	c.730 others(524): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATAATATATATTATAT ATATTATATATATACTTTATATATAATATATATTATATATATTATATATA TACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(500): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATAAAGTATATATATAATATATATAATATATATTATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATATAATATATATTATATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT AATATATATTATATATAAAGTATATATATAATATATATTATATATAAAGT ATATATATAATATATATTATATATATATAAAATATATAATATATATTATA TATATAAG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0003 a0005c0026t0003	a0005c0026t0003g0244 a0005c0026t0003g0244	1	2	0.5000	507	c.730 others(524): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATATAATATATATTATATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATAATA TATATTATATATATTATATATATACTTTATATATAATATATATTATATAT ATTATATATATACTTTATATATATAATATATATTATATATATTATATATA TACTTTATATATATAATATATATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCTCCCC others(500): Show TCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCTCTCCCCT TCCCCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0087 a0001c0001t0015g0087	1	206	0.0049	507	c.433 others(524): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGGAG GGGGAGGGGGAGGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGGGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
OR11H4_chr14_20234286_20249349	20237646	A A	ATATACTA others(500): Show ATATACTATATAGTATATATAGTATATAGTATATATAGTATATATAGGAT ATATAGGATATATAGGATATATATAATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATGTATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	507	c.-16 others(518): Show c.-1697_-1696insTATACTATATAGTATATATAGTATATAGTATATA TAGTATATATAGGATATATAGGATATATAGGATATATATAATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATGTATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAG		OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding					1639		chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83951962	C C	CCCTCCCT others(500): Show CCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCC TGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCC TCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCC TTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCC TCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTG CCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGT CCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTT CCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTC CCTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	61	0.0164	507	c.-14 others(518): Show c.-1441_-1440insCCTCCCTCTTCCCTTCCTCCTTCCCTCCCTCCCT CCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCT TCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCT TCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCC TCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCC CTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCCTCCTCCCTTCCTC CCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCCTACTTCCCTCCCT CCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCC CTGCCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTTCCT CCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGC CTCCCTCCTTCCCTCCCTCCCTG		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					1277		chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2106700	C C	CGGTGGGC others(500): Show CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGCGACTCTCAGCA AGCCCCTCTAGTGGGCGAGGACCTCCACACGTGTCGCCAGGCCAGGCGAC TCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCGCCAGGC CAGGCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCATGCGTGT CACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCC ACGTGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCACACGTGT CACCAGGCCAGGTGACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCC ATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGA GGACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCAGCAAGCCCCTCCG GTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTCAGCAA GCCCCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	239	0.0042	507	c.335 others(526): Show c.335-28544_335-28543insCACGTGTCACCAGGCCAGGCGACTCT CAGCAAGCCCCTCTAGTGGGCGAGGACCTCCACACGTGTCGCCAGGCCAG GCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCGC CAGGCCAGGCGACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCATG CGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGA CCTCCACGTGTGTCACCAGGCCAGGTGACTCTTCAGCAAGCCCCTCCACA CGTGTCACCAGGCCAGGTGACTCTCAGCAAGCCCCTCCGGTGGGCGAGGA CCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCTGGTG GGCGAGGACCTCCATGCGTGTCACCAGGCCAGGCGACTCTCAGCAAGCCC CTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCTTC AGCAAGCCCCTCTGGTGGGCGAGGACCTCCA		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2121868	G G	GGTTAGGG others(500): Show GGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTAGTTAGCGTCACGG TGGTAGTTAGGGTCACGGTGGTAGTTACTTAGGGTCATGGTGGTAGTTAG GGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTAG TTACTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTAGGG TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTT ATTTAGGGTCATGGTGGTAATTAGGGTCATGGTGGTAGTTACTTAGGATC ATGGTAGTTAGGGTCACGGCGGTAGTTACTTAGGGTCATGGTGGTAGTTA GGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGTGGTA GTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACGGT GGTAGTTAGGGTCACGGCGGTAGTTAGGGTCATGGCTGTAGTTAGCGTCA CGGTGGTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	240	0.0042	507	c.335 others(526): Show c.335-13377_335-13376insAGTTAGGGTCACGGTGGTAGTTAGCG TCACGGTGGTAGTTAGGGTCACGGTGGTAGTTACTTAGGGTCATGGTGGT AGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG TGGTAGTTACTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAT TTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTATTTAGGGTCATGGTGGTAATTAGGGTCATGGTGGTAGTTACTT AGGATCATGGTAGTTAGGGTCACGGCGGTAGTTACTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACG GTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGT CACGGTGGTAGTTAGGGTCACGGCGGTAGTTAGGGTCATGGCTGTAGTTA GCGTCACGGTGGTAGTTAGGGTCACGGTGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCACGGC others(500): Show GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTG GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTGGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0227 a0001c0003t0001g0227	1	163	0.0061	507	c.335 others(526): Show c.335-11464_335-11463insCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTGGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCAT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	162010624	A A	ATATATTA others(500): Show ATATATTATATAATATATTATATAATATATAATATTATATATTATATAAT ATATTATATAATATATTATATTATATATTATATAATATATATTATATAAT ATATTATATTATATATTATATATTATATAATATATTATATTATATATAAT ATAATATATTATATTATATATAATATAATATATTATATAATATATTATAT ATATTAATATTATATATTATATAATATATTATATATATAATATAATATAT TATATAATATATTATATATATTAATATTATATATTATATAATATATTATA TATATTAATATTATATATTATATAATATATTATATATATTAATATTATAT ATTATATAATATATTATATATATTAATATTATATATTATATAATATATTA TATATATTAATATTATATATTATATAATATATTATATATATTAATATTAT ATATTATATAATATATTATATATATTATACATTATATAATATATATTATA TAGTATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	28	0.0357	507	c.619 others(526): Show c.619-37208_619-37207insATATACTATATAATATATATTATATA ATGTATAATATATATAATATATTATATAATATATAATATTAATATATATA ATATATTATATAATATATAATATTAATATATATAATATATTATATAATAT ATAATATTAATATATATAATATATTATATAATATATAATATTAATATATA TAATATATTATATAATATATAATATTAATATATATAATATATTATATAAT ATATAATATTAATATATATAATATATTATATAATATATTATATTATATAT ATAATATATTATATAATATATAATATTAATATATATAATATATTATATAA TATATTATATTATATATAATATAATATATTATATTATATATAATATAATA TATTATATAATATATAATATATAATATAATATATTATATAATATATATTA TATAATATATAATATAATATATTATATAATATATTATATAATATATAATA TTATATATTATATAATATATTATATAATATA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11						chr6	TogoVar
PTPN4_chr2_119754922_119989899	119843930	A A	ACCCCCCC others(500): Show ACCCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCC GACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCG ATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTTCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC AGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0006 a0001c0001t0032g0006	1	240	0.0042	507	c.139 others(526): Show c.139-18599_139-18598insCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCCGATCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCC CACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACCCCCCCCC		PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP3_chr16_420649_528011	458501	C C	CCACAGGG others(500): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC TGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGCTCACA GGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGCTCACAGGGCCTGGGGG GCCTTCCTCAGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCAGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCA CTGATGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0084 a0001c0002t0009g0084	1	280	0.0036	507	c.715 others(524): Show c.715-2871_715-2870insTGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACA GGGCCTGGGGGGCCTTCCTCAGGTTCACCGATGCTCACAGGGCCTGGGGG GCCTTCCTCAGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAG GTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCAC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458567	G G	GTTCAGTG others(500): Show GTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCA CTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCA GATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCAGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	263	0.0038	507	c.715 others(524): Show c.715-2833_715-2832insGTGATGTTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGG GGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGC CTGGGGGGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCA CAGGGCCTGGGGGGCCTTCCTCAGATTCA		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458604	G G	GGGTTCAC others(500): Show GGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTTCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCG ATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGG GCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGC CTTCCTCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0294 a0001c0001t0008g0294	1	207	0.0048	507	c.715 others(524): Show c.715-2787_715-2786insCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGC TCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTTCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCC TGGGGGGCCTTCCTCAGGTTCACCGATGC		RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114001427	A A	ACGGCCGC others(500): Show ACGGCCGCGGGCTCGGGGTCAGGGTGGGCAGTGGACACTCACGCAACATG GAGGACCTACAGCCACGGGCTCGGGGTCAGGGCAGGCAGTGGACGCTCAC ACACAGAGGACCTACAGCCGCGGGCTCGGGGTCAGGGCAGGCAGTGGACG CTCACACACAGAGGACCTACAGCCGCGGGCTCAGGGTCAGGGTGGACAGT GGATGCCCACACAACACAGAGGACCTACGGCCACAGGCTCGGGGTCAGGG CGGGCAGTGGATGCCCACACAACACGGAGGACCTGCGGCCGTGGGCTCGG GGTCAGGGCAGGCAGCGGACGCTCACACACGGAGGACCTGCGGCCGCGGG CTCGGGGTCAGGGTGGGCAGTGGACACTCACGCAACATGGAGGACCTACA GCCGCGGGCTCGGGGTCAGGGCAGGCAGTGGACGCTCACACACAGAGGAC CTACAGCCGCGGGCTCGGGGTCAGGGCGGGCAGTGGACGCTCACACACGG AGGACCTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0012 a0001c0001t0006g0013	2	66	0.0303	507	c.174 others(524): Show c.1743-496_1743-495insCAGGTCCTCCGTGTGTGAGCGTCCACTG CCCGCCCTGACCCCGAGCCCGCGGCTGTAGGTCCTCTGTGTGTGAGCGTC CACTGCCTGCCCTGACCCCGAGCCCGCGGCTGTAGGTCCTCCATGTTGCG TGAGTGTCCACTGCCCACCCTGACCCCGAGCCCGCGGCCGCAGGTCCTCC GTGTGTGAGCGTCCGCTGCCTGCCCTGACCCCGAGCCCACGGCCGCAGGT CCTCCGTGTTGTGTGGGCATCCACTGCCCGCCCTGACCCCGAGCCTGTGG CCGTAGGTCCTCTGTGTTGTGTGGGCATCCACTGTCCACCCTGACCCTGA GCCCGCGGCTGTAGGTCCTCTGTGTGTGAGCGTCCACTGCCTGCCCTGAC CCCGAGCCCGCGGCTGTAGGTCCTCTGTGTGTGAGCGTCCACTGCCTGCC CTGACCCCGAGCCCGTGGCTGTAGGTCCTCCATGTTGCGTGAGTGTCCAC TGCCCACCCTGACCCCGAGCCCGCGGCCG		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23						chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79495576	G G	GGTGCGGG others(500): Show GGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGG GTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGG GGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGA GGTGGGGGCAGGGGTACTGGAGGCAGGGATGGGGGTGCAGGAAGGTGGGA AGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGG CAGGGATGGGGATGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGG TGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTG GGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAG AGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGG GTGCAGAGGGTGGGGAGGTGGGGGCAGGGGTACTGGAGGCAGGGATGGGG GTGCAGGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	128	0.0078	507	c.-31 others(528): Show c.-319-12979_-319-12978insTCCTGCACCCCCATCCCTGCCTCC AGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCA CCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCT CCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGC ACCCCTCCCCCACCTTCCCGCATCCCCATCCCTGCCCCAGTACCCCTGCC CCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCTTCCTGCAC CCCCATCCCTGCCTCCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCAC CCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCT CTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTTCCCGCAC		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79495576	G G	GGTGCGGG others(500): Show GGTGCGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGG GTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGG GGAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAGGGGTACTGGAGGCAGGG ATGGGGGTGCAGGAAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGG AGGTGGGGCAGGGGTACTGGGGCAGGGATGGGGATGCGGGAAGGTGGGGG AGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGG TGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTG GGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAG AGGGTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGG GTGCAGAGGGTGGGGAGGTGGGGGCAGGGGTACTGGAGGCAGGGATGGGG GTGCAGGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0062 a0001c0001t0007g0062	1	128	0.0078	507	c.-31 others(528): Show c.-319-12979_-319-12978insTCCTGCACCCCCATCCCTGCCTCC AGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCA CCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCT CCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCTCTGC ACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCGCA TCCCCATCCCTGCCCCAGTACCCCTGCCCCACCTCCCCACCCTCTGCACC CCTCCCCCACCTTCCCACCTTCCTGCACCCCCATCCCTGCCTCCAGTACC CCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCCACCCT CTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCC CACCCTCTGCACCCCTCCCCCACCTTCCCGCAC		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCCATATGGTATATATTGTATATAAAATATATAGTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	82	0.0122	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATGCAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCCATATGGTATATATTGTATATAAAATATATAGTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG02300.hp1 HG01081.hp1 HG01255.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0001g0092	3	84	0.0357	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCTATATGGTATATATTGTATATAAAATATATATTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0018 a0001c0001t0016g0018	1	82	0.0122	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATAATAT ATATTTTATATACAATATATACCATATAGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGCATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCTATATGGTATATATTGTATATAAAATATATAGTATAT GCTATATGGTATATATTGTATATAAAATATATATTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0011 a0001c0001t0038g0011	1	82	0.0122	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATAATAT ATATTTTATATACAATATATACCATATAGCATATACTATATATTTTATAT ACAATATATACCATATAGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATGCAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGCATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATAT GCTATATGGTATATATTGTATATAAAATATATAGTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	82	0.0122	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATAGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATACAATATATACCATAT GGCATATACTATATATTTTATATGCAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCTATATGGTATATATTGTATATAAAATATATAGTATAT GCTATATGGTATATATTGTATATAAAATATATATTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02486.hp2 others(2): Show HG01891.hp1 HG02280.hp1 HG02486.hp2 HG02622.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0023 others(1): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0023 a0001c0001t0037	a0001c0001t0004g0013 a0001c0001t0015g0015 a0001c0001t0015g0016 others(2): Show a0001c0001t0004g0013 a0001c0001t0015g0015 a0001c0001t0015g0016 a0001c0001t0023g0014 a0001c0001t0037g0017	5	86	0.0581	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATAATAT ATATTTTATATACAATATATACCATATAGCATATACTATATATTTTATAT ACAATATATACCATATAGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATACAATATATACCATAT GGCATATACTATATATTTTATATACAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT		RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16						chr9	TogoVar
RPH3AL_chr17_207389_357807	356598	T T	TCACAGTC others(500): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01255.hp1 others(6): Show HG01070.hp1 HG01070.hp2 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01943.hp2 HG02738.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0009 a0003c0005t0023	a0001c0001t0001g0128 a0001c0001t0003g0096 a0001c0001t0004g0097 others(6): Show a0001c0001t0001g0128 a0001c0001t0003g0096 a0001c0001t0004g0097 a0001c0001t0004g0121 a0001c0001t0006g0072 a0001c0001t0007g0098 a0001c0001t0008g0130 a0001c0002t0009g0126 a0003c0005t0023g0125	9	93	0.0968	507	c.-41 others(518): Show c.-4100_-4099insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding					3792		chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(500): Show GTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCCGTCCCCTCTGCGGCCCTCACCCCGTC CCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0086 a0001c0086	a0001c0086t0004 a0001c0086t0004	a0001c0086t0004g0172 a0001c0086t0004g0172	1	130	0.0077	507	c.394 others(524): Show c.3940-492_3940-491insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
S1PR4_chr19_3173769_3185332	3178012	A A	ATCGGGCT others(500): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	270	0.0037	507	c.-78 others(516): Show c.-781_-780insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCC		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					756		chr19	TogoVar
SARDH_chr9_133658560_133743352	133668591	T T	TCCCCTTA others(500): Show TCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCCTCGCCCTCCCCTCTCCCCTCACCCTCATCCTCCCTCTCCCTCACCC TCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCATCCT CCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCC CTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCT CTCCCCTTACCCTCCCTCTCCCTCTCCTTCCCTCTCCCTTACCCTCCCTC TCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTC CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCC CTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCC CTCACCCTCCCTCTCCCCTCATCCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0172 a0001c0016t0002g0172	1	208	0.0048	507	c.249 others(526): Show c.2496-1722_2496-1721insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG GAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAAGGG AGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGA GGGAAGGAGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAT GGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGG AGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGATGAGGGAGAGGGAG GGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGG ATGAGGGTGAGGGGAGAGGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGAG AGGGAGGGTGAGGGAGGGGGAGGGTAAGGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(500): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCTGGCCAGCTG CCCCGTCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18944.hp2 NA18972.hp2 HG02129.hp1 NA18944.hp2 NA18972.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0123 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0123 a0001c0003t0002g0180 a0001c0003t0002g0181	3	107	0.0280	507	c.284 others(526): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCC		SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23						chr3	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTATCT others(500): Show GTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTG TATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTT TTTCTCTTTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTC CTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGT CTCTCTTTCTCTCCTCTCTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTC TCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTTTCTCTCCTCTCTCTGTA TCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTCTCTGTCTCT GTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCATCTCTCTCTGTC TCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTC CTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCTCTC TCTGTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0126 a0001c0001t0093g0126	1	119	0.0084	507	c.-43 others(518): Show c.-4313_-4312insTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTT CTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTC GTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTGTCTATCTCTGTCT CTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTG TGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCTTTCTCTGTCTCTGTCT GTCTCTGTCTCTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTTTC TCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTC TTTTTCTCTGTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTC TCATCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCT GTCTCTCTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTC TCTCTCTCCTCTCTCTCTGTATC		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding					4205		chrX	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(500): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03654.hp2 HG01261.hp1 HG03654.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0057 a0003c0007t0001g0184 a0001c0001t0001g0057 a0003c0007t0001g0184	2	61	0.0328	507	c.72+ others(524): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCC AGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(500): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0096 a0003c0008t0001g0096	1	60	0.0167	507	c.72+ others(524): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCC AGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results