Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(412): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGAG CTGGGAGGAGGGTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGATCCTGGGGGTCTGT CCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCGCCCCTGC TGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCC TTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02965.hp1 HG02280.hp1 HG02615.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0089 a0001c0004t0004 a0001c0001t0089 a0001c0004t0004	a0001c0001t0089g0048 a0001c0004t0004g0004 a0001c0001t0089g0048 a0001c0004t0004g0004	3	110	0.0273	419	c.-23 others(430): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCAAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA TCCGTTCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTTCCCAGCA GGGGCGGTGGACAGACCCCCAGGACCCTCCTCCCAGCTCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
CALY_chr10_133319072_133341896	133334411	A A	ATCTGAGG others(412): Show ATCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCT CTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTG AGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGAAGGACATGAGG GAGAAGGATCTGAAAGGCGAAGGATCTGACGGGGGAAGGATCTGAGCGGG GAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGGAGGCTCTGAGGGGGAAGG ACATGAGGGGAAGGATCTGAGGGGCGAAGGATCTGAGCGGGGAAGGCTCT GAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGA AGGGGAGGCTCTGAGGGGGAAGGACATGAGGGGAAGGATCTGAGGGGCGA AGGATCTGAGCGGGGAAGGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	221	0.0045	419	c.-21 others(436): Show c.-21+2422_-21+2423insGCCTTCCCCGCTCAGATCCTTCGCCCCT CAGATCCTTCCCCTCATGTCCTTCCCCCTCAGAGCCTCCCCTTCAGAGCC TTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCCTT CCCCGCTCAGATCCTTCGCCCCTCAGATCCTTCCCCTCATGTCCTTCCCC CTCAGAGCCTCCCCTTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCA GATCCTTCCCCCGTCAGATCCTTCGCCTTTCAGATCCTTCTCCCTCATGT CCTTCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCT TCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCC CCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCCTCAGA	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(412): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCC CACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	291	0.0034	419	c.-22 others(436): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(412): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCC CTCCCCCTCCCCCCCTCCCCCTCCCCCCTTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTC CCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCC CCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCC TCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	12	0.0833	419	c.-45 others(440): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCCCCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCCCCCCTCCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCC CCCTCCCCTCCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20356917	C C	CTGAGGGG others(412): Show CTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATAC TGCGAGTGGAGGTAGTCACACTGTGAAGGGTGATAGTCACACTGAGAGGA GGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACT GTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACT GAGGGGAGGTGGTCACAGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0003 a0001c0039t0003	a0001c0039t0003g0125 a0001c0039t0003g0125	1	217	0.0046	419	c.351 others(438): Show c.3514-3285_3514-3284insAGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAG GGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGATA GTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(412): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGC AGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGA GGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGA GGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAG GAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGG GAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGG GGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	183	0.0055	419	c.637 others(434): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAG TCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCT TCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(412): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGGCAGGG GGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGG AGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGA GGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAG GAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGG GAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGG GGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	183	0.0055	419	c.637 others(434): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNST_chr1_246561456_246673595	246576190	G G	GCGCCACC others(412): Show GCGCCACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGT TTATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAA CATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0206 a0001c0001t0011g0206	1	313	0.0032	419	c.-52 others(436): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTC AAGGTTGTATTTCTGTTTATAACTGGTGGGGGGGGGGGAGTTAAATTAAT TTTGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCG GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCGTGGCTAACACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCG GGCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(412): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCA CATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	270	0.0037	419	c.-52 others(436): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCA AGGTTGTATTTCTGTTTATAACTGGTGGGGGGGGGGGGAGTTAAATTAAT TTTGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCG GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCG GGCGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(412): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGG AGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0015 a0008c0011t0015	a0008c0011t0015g0211 a0008c0011t0015g0211	1	246	0.0041	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(412): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACT GGTGGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTGCT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATTGCGCCAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	246	0.0041	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAG CTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01934.hp1 HG02015.hp1 others(8): Show HG00673.hp2 HG01934.hp1 HG02015.hp1 HG02109.hp1 HG02280.hp1 HG02630.hp2 HG03098.hp2 HG03516.hp2 HG03540.hp2 NA18950.hp1 NA18962.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0004c0004t0021	a0001c0001t0001g0208 a0001c0001t0001g0313 a0001c0001t0002g0312 others(8): Show a0001c0001t0001g0208 a0001c0001t0001g0313 a0001c0001t0002g0312 a0001c0001t0003g0209 a0001c0001t0004g0016 a0001c0001t0004g0148 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0005g0152 a0001c0001t0011g0210 a0004c0004t0021g0150	11	41	0.2683	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02559.hp2 others(1): Show HG01109.hp2 HG02280.hp2 HG02559.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0158 a0001c0001t0004g0155 a0001c0001t0004g0156 others(1): Show a0001c0001t0001g0158 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157	4	34	0.1176	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCACCCCTGCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	31	0.0323	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCACCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19005.hp2 NA18969.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0251 a0001c0001t0001g0252	2	32	0.0625	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(15): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 NA18944.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18969.hp2 NA19005.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0002c0002t0001	a0001c0001t0001g0196 a0001c0001t0001g0253 a0001c0001t0001g0272 others(15): Show a0001c0001t0001g0196 a0001c0001t0001g0253 a0001c0001t0001g0272 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0300 a0001c0001t0002g0308 a0001c0001t0003g0197 a0001c0001t0003g0295 a0001c0001t0018g0254 a0002c0002t0001g0029	18	48	0.3750	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGT GGGTGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	31	0.0323	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGTGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0173 a0001c0001t0009g0015 a0001c0001t0002g0173 a0001c0001t0009g0015	2	32	0.0625	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(412): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAGAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGG TGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCA TGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	31	0.0323	419	c.-52 others(436): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAGAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTT TATAACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAAC ATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CROCC2_chr2_240901336_240998311	240924811	C C	CCCCCACA others(412): Show CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTGA CCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT AACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCCACACTAACCCGGCCCCCCACACTAATCCGGCCCCCACACTAACCCGG CCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0149 a0012c0013t0001g0149	1	326	0.0031	419	c.489 others(434): Show c.489-892_489-891insCACACTAACCCGGCCCCCCACACTAACCCG GCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTGACC CAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAATCCGGCCCCCACACTAACCCGGCC CCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCACACTAACCCAG TCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647272	T T	TCCACAAT others(412): Show TCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCT CCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCTCA CCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCT CCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCC TCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCAC AATCCTCCTCCTCACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCC TCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCAC ACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCC TCCTCACCCCTCCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	143	0.0070	419	c.51 others(430): Show c.5132_*5133insCCACAATCCTCCTCCACACCCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCTCACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTC CTCCTCCACAATCCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACT CCTCCTCACCCATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACA CCCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCTCCACAATCCT CCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCC ACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCT CCTCCACAATCCTCCTCCTCACCCCTCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1928		chr15	TogoVar
CTU2_chr16_88701503_88720396	88713210	T T	TGAGAGCC others(412): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGGCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCTCTTCCCCGGGC CCTGACCCCCACTCATACCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0118 a0002c0003t0005g0118	1	339	0.0029	419	c.738 others(432): Show c.738-56_738-55insGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCTCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(412): Show GCTATAACCACCACCACCACCACCACTATAACCATCACCACCACCACTAT AACCACCATCATCATCACCACCACTACCACTACTATAACCATCACCACCA CCACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCACT ACCACTATGATAACCATCACCAACACCACTATAACCACCAATGCCAAGAA GTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAGGACCAA CCAGGACCAACCAGGACCAACACCACCACCACTACTACCACTACTATAAC CATCACCACCATCACTGCTATAATCACCACCACCACCACCATCACTATAA CCATCACCATCATCACCACTATAACCACCACTACCACCACCACCACCAGT TATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0222 a0001c0004t0007g0222	1	83	0.0120	419	c.724 others(438): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGGTTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTG GTGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIP2C_chr10_269201_694668	556162	A A	ACCCCTCC others(412): Show ACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACA GCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCGAG GACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCAC CCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCTCCCACAG CCGGATCCGAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAG GACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCAC CCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCC ACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATC CCAGGACGGCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0078 a0001c0004t0003g0078	1	87	0.0115	419	c.86- others(436): Show c.86-69633_86-69632insGTGGGTGGGTGCCGTCCTGGGATCCGGC TGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGG GTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC CGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATC CGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTCGGATCCGGCTGTGGGA GGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGG GTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATC CGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAG GGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1385414	A A	ACCCCGGC others(412): Show ACCCCGGCCTGTGCCTGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTATGCCTGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCC GTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCG GCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGC CCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCC TGAGAATTTGGTGCAGTTAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	27	0.0370	419	c.107 others(440): Show c.107-115949_107-115948insCGGCCTGTGCCTGTCCCCTGAGAA CTTGGTGCACAGTTACCCCGGCCTATGCCTGGCCCCTGAGAACTTGGTGC ACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTAC CCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCT ATGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGG CCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAG AACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGT GCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTATGCCCGTCCCCTGAGAATTTGGTGCAGTTACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438423	A A	AGGAGGAG others(412): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAG GAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGA GGAGGGGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAAGGAGGAGGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0122 a0122	a0122c0229 a0122c0229	a0122c0229t0002 a0122c0229t0002	a0122c0229t0002g0008 a0122c0229t0002g0008	1	241	0.0041	419	c.118 others(438): Show c.11806-556_11806-555insCTCCTCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCT CCTCCCTCCTCCTTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCTC CTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTC CCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCATCCCC others(412): Show CCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCA CACCCCCTACCACCACGATCACCACCATCCCCATCCACACCCCCTACCAC CACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACC ATCCCTATCCACACCCCCTACCACCATCCTCACCACCATCCCCATCCACA GCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCA CCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCAT CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	106	0.0094	419	c.259 others(438): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATAGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATCGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(412): Show TATATATAATTATATATGATATATTATTATATATAATTATATATGATATA TAATTATATATATTACATATCATATATAATCTTAATATATTATATATTAT ATTATATATTATTATATATAATATATTATATATTACATAACATATATATT ATTATAATATATAATATATTATATATTATATTATATATAATAATATATAA TATGTTATATTATATATTATATTATATATAATAATATGTAATATATAATT ATATTATATACTATTATAATAATTATAATAATATTAATATTATATTATAA TTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTTTA TAATAATATTATATAATATGTATTAATAACATATAATATAATATACAATC TATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03225.hp1 HG03453.hp2 others(1): Show HG01884.hp2 HG03225.hp1 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	4	7	0.5714	419	c.40 others(430): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAATATATAATATATTATATATTATAATAATATATATGTTAT GTAATATATAATATATTATATATAATAATATATAATATAATATATAATAT ATTAAGATTATATATGATATGTAATATATATAATTATATATCATATATAA TTATATATAATAATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAC others(412): Show TCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCAT CCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCATCCTCTTTCC TCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCC CCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCC TTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCC CTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCAT CCTCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTC CTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCC CCCATCCCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0031 a0031	a0031c0024 a0031c0024	a0031c0024t0027 a0031c0024t0027	a0031c0024t0027g0017 a0031c0024t0027g0017	1	31	0.0323	419	c.119 others(436): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGATGGGGGAGGGAG GAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGG ATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGAGGATGGGGAG GGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAA GGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATGG GGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGA GGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGAG GATGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGA GGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226429	C C	CAGGCCAG others(412): Show CAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	324	0.0031	419	c.-76 others(436): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGC CAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FHIT_chr3_59742277_61256452	60860565	A A	ATGATATA others(412): Show ATGATATATATGTATCATATATACATATGATGTATGTCATGTATACATAT GATGTATGTCATGTATACATATGATGTATGTCATGTATACATATGATGTA TGTCATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCAT GTATACATATGATGTATGTCATGTATACATATGATGTATCTCATGTATAC ATATGATGTATCTCATGTATACATATGATGTATCTCATGTATACATATGA TGTATCTCATGTATACATATGATGTATATGATACATATCATATATGATGT ATATGATACATATCATATATGATGTATATGATACATATCATATATGATGT ATATGATACATATCATATATGATATATATGATACATATCATATATGATAT ATATGATACATATCATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	44	0.0227	419	c.-11 others(440): Show c.-110-38555_-110-38554insATATATGATATGTATCATATATAT CATATATGATATGTATCATATATATCATATATGATATGTATCATATACAT CATATATGATATGTATCATATACATCATATATGATATGTATCATATACAT CATATATGATATGTATCATATACATCATATGTATACATGAGATACATCAT ATGTATACATGAGATACATCATATGTATACATGAGATACATCATATGTAT ACATGAGATACATCATATGTATACATGACATACATCATATGTATACATGA CATACATCATATGTATACATGACATACATCATATGTATACATGACATACA TCATATGTATACATGACATACATCATATGTATACATGACATACATCATAT GTATACATGACATACATCATATGTATATATGATACATATATATCA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(412): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCCGCCCACCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACC CATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCC CTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTC CCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCC CCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCC AGCCTACCCCCTCCCCCCGCCCCACCCACTCCTCCCGCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCC GCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0000 a0015c0019t0001g0000	1	114	0.0088	419	c.33 others(430): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTC CAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCCTCCAGCCT ACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCT CCCCCCACCCATCCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCC CACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCA CCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCC TCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCCACCCACTCCTCC CGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(412): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCA TCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCT CCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCCCGCCCACCCCCCCTCCCGCCCC CCTCCAGCCTACCCCTCCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCC CAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCT ATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCC GCCCACCCCCCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	1	114	0.0088	419	c.33 others(430): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCC CCCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCAC CCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCCGCCCAC CCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCCGCCCACCCCCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCC CGCCCCCTCCAGCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCCCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GAS6_chr13_113815549_113869076	113841791	G G	GTTTCCTC others(412): Show GTTTCCTCCATATGCCCAGTTTCCTCCATACACCCCAGTTTCCTCCATAT GCCTCAATTTCCTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGT TTCCTCCATACACCCCACAGTTTCCTCCATATGCCCAGTTTCCTCCATAC ACCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATATGCCCCCCAGT TTCTTCCATACACCCCACAGTTTCCTCCATACGCCCCACAGTTTCCTCCA TATGCCCAGTTTCTTCCATACGCCCCACAGTTTCCTCCATATGCCTCAAT TTCCTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCA TACGCCCCACAGTTTCCTCCATATGCCCAGTTTCTTCCATACGCCCCACA GTTTCCTCCATATGCCTCAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp2 HG02145.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0015 a0002c0005t0001g0016 a0002c0005t0001g0015 a0002c0005t0001g0016	2	122	0.0164	419	c.344 others(436): Show c.344-1942_344-1941insTTGAGGCATATGGAGGAAACTGTGGGGC GTATGGAAGAAACTGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAA ACTGTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGC ATATGGAGGAAACTGTGGGGCGTATGGAAGAAACTGGGCATATGGAGGAA ACTGTGGGGCGTATGGAGGAAACTGTGGGGTGTATGGAAGAAACTGGGGG GCATATGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGTGTATGGAG GAAACTGGGCATATGGAGGAAACTGTGGGGTGTATGGAGGAAACTGTGGG GTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATGGAG GAAACTGGGGTGTATGGAGGAAACTGGGCATATGGAGGAAA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
GLB1L3_chr11_134271379_134324564	134308489	T T	TCACCACC others(412): Show TCACCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCAC CATGTCCACCACCACTACCACCACCATCACCATCACCACCACCACCACCA CCATCACCATCACCATCATCACCATCACCTCCACCACCACCACCACTATC ACCACCATCACCATCACCACCATCACCACCATCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCAAATACCACCACCACCACC ATGTCCACCACCACTACCACCACCATCACCATCACCACCACCACCACCAT CACCATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCA CCATCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0276	1	204	0.0049	419	c.962 others(436): Show c.962-1129_962-1128insCCACCACCACCACCACCACCACCAAATA CCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACC ACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACCAC CACCACCACTATCACCACCATCACCATCACCACCATCACCACCATCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAAATAC CACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCA CCACCACCACCATCACCATCACCATCATCACCATCACCTCCACCACCACC ACCACTATCACCACCATCACCATCACCACCATCACCACCATCACCATCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GMDS_chr6_1618806_2250605	1652420	A A	ATATATTT others(412): Show ATATATTTATATATAATATATATCATTTATATATAATATATAATATATAT TATATATAATATATATCATTTATATATAATATATTATATATATTATATAT AATATATTATATATATTATATATAATATATTATATATATTATATATAATA TATTATATATATTATATATAATATATTATATATATTATATATAATATATA TCATTTATATATAATATATTATATATATTATATATAATATATATCATTTA TATATAATATATTATATATATTATATATAATATATATCATTTATATATAA TATATTATATATATTATATATAATATATATCATTTATATATAATATATTA TATATATTATATATAATATATATCATTTATATATAATATATTATATATAT TATATATAATATATATCATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	154	0.0065	419	c.988 others(438): Show c.988-27881_988-27880insAATGATATATATTATATATAATATAT ATAATATATTATATATAAATGATATATATTATATATAATATATATAATAT ATTATATATAAATGATATATATTATATATAATATATATAATATATTATAT ATAAATGATATATATTATATATAATATATATAATATATTATATATAAATG ATATATATTATATATAATATATATAATATATTATATATAAATGATATATA TTATATATAATATATATAATATATTATATATAATATATATAATATATTAT ATATAATATATATAATATATTATATATAATATATATAATATATTATATAT AATATATATAATATATTATATATAAATGATATATATTATATATAATATAT ATTATATATTATATATAAATGATATATATTATATATAAATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(412): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	166	0.0060	419	c.109 others(440): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(412): Show TATATATTAATATATATTTATATTTATTTATAAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATT TATATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAAAT ATATAAATCTATATATATAAATATAGATTTATATATATTTATATATAAAT AACTATAAATATAGATTTATATATATTTATATATAAATAACTATAAATAT AGATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTT ATATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTAT ATAGATTTATATATATTTATATATAAATAACTATATAGATTTATATATAT TTATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	85	0.0118	419	c.-97 others(436): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATAAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA TATATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGT TATTTATATATAAAATATATAAATCTATATATATAAATATAGATTTATAT ATATTTATATATAAATAACTATAAATATAGATTTATATATATTTATATAT AAATAACTATAAATATAGATTTATATATATTTATATATAAATAACTATAT AGATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTT ATATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTAT ATAGATTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR89B_chr1_147923420_147998592	147949447	C C	CCCACCTC others(412): Show CCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCAGGGCAGAGGCGTCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCCAGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCCAGGGGCTGAC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGTCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCCAGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0236 a0001c0003t0003g0236	1	7	0.1429	419	c.416 others(436): Show c.416-3897_416-3896insCACCTCCTTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCAGGGCAGAGGCGT CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCCAGGGGCTGACCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCCAGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG TCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCCAGGGGC	GPR89B	ENSG00000188092.15	transcript	ENST00000314163.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR89B_chr1_147923420_147998592	147949447	C C	CCCACCTC others(412): Show CCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGTCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCCAGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCCAGGGGCTGAC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCC CCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGTCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCCAGGGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA20129.hp2 HG01934.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0234 a0001c0003t0003g0235 a0001c0003t0003g0234 a0001c0003t0003g0235	2	8	0.2500	419	c.416 others(436): Show c.416-3897_416-3896insCACCTCCTTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGT CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCCAGGGGCTGACCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCCAGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG TCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCCAGGGGC	GPR89B	ENSG00000188092.15	transcript	ENST00000314163.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
JPH2_chr20_44101590_44192188	44132796	A A	ACCCCCAC others(412): Show ACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTC CCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACC TGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCAC CCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCG TCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACA CCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTC ACCCACCCCCACCGTCCCCCCTCCACACCTGCAGCTCTCACCCACCCCCA CCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCC ACACGTGTAGCTCTCCCCAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0028 a0001c0007t0028	a0001c0007t0028g0285 a0001c0007t0028g0285	1	332	0.0030	419	c.117 others(440): Show c.1170-14174_1170-14173insGTGGGGAGAGCTACACGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGGACGGTGGGGGTGGGTGAGA GCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTG GAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGT GGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGA GAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTG TGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACG GTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132796	A A	ACCCCCAC others(412): Show ACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTC CCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACC TGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCAC CCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCCACC GTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCAC ACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCT CACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCA CCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCC ACACGTGTAGCTCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	332	0.0030	419	c.117 others(440): Show c.1170-14174_1170-14173insGTGGGGAGAGCTACACGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAG CTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGG AGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTG GGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGA GAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTG TGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACG GTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44132805	G G	GTCCCCCT others(412): Show GTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCAC ACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCT CACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCA CCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCC ACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCT CTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCC CCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCC TCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACGTGTA GCTCTCCCCACCCCCACCGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0054 a0002c0002t0003g0054	1	334	0.0030	419	c.117 others(440): Show c.1170-14183_1170-14182insGCGGTGGGGGTGGGGAGAGCTACA CGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGG TGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCT GCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAG GGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGG GGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAG CTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGG AGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(412): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATATAAATAAATATATAAATATATACAAATATATAAATAAAT ATATAAATATATAAATATAAATATATATTTATAGATATATAGATTTTATG TTTAAAATATATATTTTATAGATTTTATATTTAAAATATATATTTATAGA TTTTATATTTAAAAATATATTTTATATATTTTATACATAAAATATAATAT ATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATATAAAT GAATATAAAAATATATTATATGTTATATATTATATATTATTATGTTATAT ATTATATATTATTATATTATATATATTATAATATGTATTATATTATATAT TATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02622.hp1 HG01123.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0004 a0002c0011t0043 a0001c0001t0004 a0002c0011t0043	a0001c0001t0004g0283 a0002c0011t0043g0125 a0001c0001t0004g0283 a0002c0011t0043g0125	2	10	0.2000	419	c.-51 others(430): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATATAAATAAATATATAAATATATACA AATATATAAATAAATATATAAATATATAAATATAAATATATATTTATAGA TATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAA ATATATATTTATAGATTTTATATTTAAAAATATATTTTATATATTTTATA CATAAAATATAATATATAAAATATATAAATCATATAAAATTTATATTTTA TGTATAAATATAAATGAATATAAAAATATATTATATGTTATATATTATAT ATTATTATGTTATATATTATATATTATTATATTATATATATTATAATATG TATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(412): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATAAAATATATATTATATAAAATATATATAAAATATATATTATA TAAAATATATATTATATATAAAATATATACTATATATAAAATATATACTA TATATAAAATATATACTATATATAAAATATATACTATATATAAAATATAT ACTATATATAAAATATATAC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0115 a0001c0001t0022g0115	1	185	0.0054	419	c.963 others(438): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATAAAATATATATTATATAAAATATATATA AAATATATATTATATAAAATATATATTATATATAAAATATATACTATATA TAAAATATATACTATATATAAAATATATACTATATATAAAATATATACTA TATATAAAATATATACTATATATAAAATATATACTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(412): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATACTGTATATAAAATATAT ACTATATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATACACTATATATAAAATATATATTATATATA AAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	203	0.0049	419	c.963 others(438): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ACTGTATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATACACTATATATA AAATATATATTATATATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(412): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATATTATATATAAAATATAT AATATATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATATTATATATA AAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02155.hp2 HG02738.hp1 HG02148.hp2 HG02155.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0049 a0001c0001t0001 a0001c0001t0007 a0001c0001t0049	a0001c0001t0001g0163 a0001c0001t0007g0075 a0001c0001t0049g0197 a0001c0001t0001g0163 a0001c0001t0007g0075 a0001c0001t0049g0197	3	205	0.0146	419	c.963 others(438): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATAATATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(412): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATAAAATATATATTATATATAAAATATAT ACTATATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATATTATATATA AAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02083.hp1 HG03491.hp1 others(3): Show HG01496.hp2 HG02083.hp1 HG03491.hp1 NA18968.hp1 NA19001.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0041 others(1): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0041 a0001c0001t0052	a0001c0001t0005g0118 a0001c0001t0005g0160 a0001c0001t0005g0199 others(3): Show a0001c0001t0005g0118 a0001c0001t0005g0160 a0001c0001t0005g0199 a0001c0001t0012g0116 a0001c0001t0041g0225 a0001c0001t0052g0214	6	208	0.0288	419	c.963 others(438): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATAAAATATAT ATTATATATAAAATATATACTATATATAAAATATATACTATATATAAAAT ATATACTATATATAAAATATATACTATATATAAAATATATACTATATATA AAATATATATTATATATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(412): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGGG AGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAAG AGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGGG AGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAG AGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAG GAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG GGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGGAGG AAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	5	0.2000	419	c.583 others(434): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC TCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCT TATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTC CACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCC CTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTC CACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCC CTCCCCCTCCCCTCCTCCCTCTCCTTCCCTCTTCCCTCTCCTCCCCTTCC TCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(412): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGAGGAGGGGGAGGGGG AGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAG AGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAG GAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG GGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGGAGG AAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	5	0.2000	419	c.583 others(434): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC TCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCT TATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTC CACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCC CTCCTCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTCC ACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCCC TCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTTCC TCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar

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