Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(385): Show GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02886.hp2 others(3): Show HG02055.hp1 HG02615.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0029 a0001c0001t0005g0063 a0001c0001t0005g0021 a0001c0001t0005g0029 a0001c0001t0005g0063	6	225	0.0267	392	c.803 others(407): Show c.803-103_803-102insCGGGGAGAGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGA	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(385): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18999.hp1 NA19000.hp1 others(1): Show NA18747.hp1 NA18999.hp1 NA19000.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0093 a0001c0001t0003g0133 others(1): Show a0001c0001t0003g0007 a0001c0001t0003g0093 a0001c0001t0003g0133 a0001c0001t0003g0149	4	223	0.0179	392	c.803 others(406): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(385): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CAGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	220	0.0045	392	c.803 others(406): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACAG GGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTTC others(385): Show CCCCCTTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCTCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0223 a0001c0001t0006g0223	1	12	0.0833	392	c.-45 others(413): Show c.-455+14580_-455+14581insTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCCTCCCCCTCC TCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCTCTCCCCT	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH8_chr16_61642250_62041438	61960238	C C	CATATGTG others(385): Show CATATGTGTGTATACACATACATATATACATATGTGTGTGTGTATACACA TACATATATACATATGTGTGTGTATGCACATACATATATACATATGTGTG TGTGTATACACATACATATATACATATGTGTGTATACACACATATATACA TATGTGTGTATACACATACATATATACATATGTGTGTGTATACACACATA TATACATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATA CACACACATATATGTATATATGTATGTGCATACACACACACACATGTATA TATGTATGTGTATACACATACATATATACATATGTGTGTGTATACACATA CATATATACATGTGTGTGTGTGTATGCACATACACATATACAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0082 a0001c0001t0056g0082	1	138	0.0072	392	c.253 others(411): Show c.253-58766_253-58765insATGTATATGTGTATGTGCATACACAC ACACACATGTATATATGTATGTGTATACACACACATATGTATATATGTAT GTGTATACACATACATATATACATGTGTGTGTGTGTATGCACATACATAT ATACATATATGTGTGTGTATACACATACATATATACATATGTGTGTGTGT ATACACACACATGTATATATGTGTGTATACACACACATATGTATATATGT ATGTGTATACACACATATGTATATATGTGTGTATACACACATATGTATAT ATGTATGTGTATACACACACACATATGTATATATGTATGTGCATACACAC ACATATGTATATATGTATGTGTATACACACACACATATGTATATATGTAT GTGTATACACACATAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CENPJ_chr13_24877279_24927861	24881947	G G	GATATATA others(385): Show GATATATAATCTATATAGATATATAATCTATATAGATATATAGATACATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCATCTATATATAGATACATCATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	389	0.0026	392	c.12 others(403): Show c.1229_*1230insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGATGTATCTATATATAGATGATGTATCTATATAT AGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATAGATGTAT CTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATAT ATCTATATAGATGTATCTATATATCTATATAGATTATATATCTATATAGA TTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		331		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882111	G G	GATATATA others(385): Show GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTATATAGATATATA GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0050 a0001c0016t0002g0050	1	427	0.0023	392	c.10 others(403): Show c.1065_*1066insATAGATGTATCTATATATCTATATAGATGTATCT ATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATAT CTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATAT AGATGTATCTATATATCTATATAGATGTATCTATATATCTATCTAGATGT ATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTAT ATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCT ATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAG ATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTAT CTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		167		chr13	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(385): Show CTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGC GTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTG AGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGAC TGTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGA CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGTGGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19065.hp1 NA18971.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0005 a0004c0004t0003g0005	2	24	0.0833	392	c.177 others(411): Show c.1779-1999_1779-1998insCGTGGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTG TGAGGTGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGTGAGG TGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGT GACTGTGGGTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20296130	C C	CCTTCCCT others(385): Show CCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCTTTCTTCCTTCCTTTGCTT CCTTGCTTCCTTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCT TTCCTTCCTTCCCTCTATCCTTCCTTCCTTCCTTTCTTTCTCCCTCCCTT CCTTCCCTTCCTTCCTTCCCTCTTTTCCTTCCATCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp1 NA18522.hp1 HG02970.hp1 HG03195.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0008 a0001c0003 a0005c0008	a0001c0003t0004 a0005c0008t0001 a0005c0008t0003 a0001c0003t0004 a0005c0008t0001 a0005c0008t0003	a0001c0003t0004g0004 a0005c0008t0001g0135 a0005c0008t0003g0184 a0001c0003t0004g0004 a0005c0008t0001g0135 a0005c0008t0003g0184	3	4	0.7500	392	c.321 others(411): Show c.3217-2046_3217-2045insCTTCCTTCCTTCTCTCCTTCCTTCCT TCCCTCCCTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCT TTCTTCCTTCCTTTGCTTCCTTGCTTCCTTCTTTCCTTTCTTCATCCCTC CCTCCCTCCTTCCTTCCTTTCCTTCCTTCCCTCTATCCTTCCTTCCTTCC TTTCTTTCTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCTTTTCCTTCC ATCTTTCCTTTCTTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(385): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCC GCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCT TCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(172): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0009 a0010 a0011 a0013 a0016 a0018 a0021	a0001c0002 a0002c0001 a0002c0020 others(10): Show a0001c0002 a0002c0001 a0002c0020 a0003c0005 a0006c0008 a0009c0012 a0009c0019 a0010c0013 a0011c0015 a0013c0014 a0016c0021 a0018c0027 a0021c0017	a0001c0002t0001 a0002c0001t0002 a0002c0020t0002 others(10): Show a0001c0002t0001 a0002c0001t0002 a0002c0020t0002 a0003c0005t0001 a0006c0008t0001 a0009c0012t0001 a0009c0019t0001 a0010c0013t0001 a0011c0015t0001 a0013c0014t0002 a0016c0021t0001 a0018c0027t0002 a0021c0017t0001	a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0009 others(162): Show a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0115 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0002c0001t0002g0001 a0002c0001t0002g0002 a0002c0001t0002g0003 a0002c0001t0002g0013 a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0016 a0002c0001t0002g0017 a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0020 a0002c0001t0002g0021 a0002c0001t0002g0023 a0002c0001t0002g0026 a0002c0001t0002g0027 a0002c0001t0002g0028 a0002c0001t0002g0029 a0002c0001t0002g0030 a0002c0001t0002g0031 a0002c0001t0002g0032 a0002c0001t0002g0033 a0002c0001t0002g0035 a0002c0001t0002g0036 a0002c0001t0002g0037 a0002c0001t0002g0038 a0002c0001t0002g0039 a0002c0001t0002g0040 a0002c0001t0002g0041 a0002c0001t0002g0042 a0002c0001t0002g0043 a0002c0001t0002g0044 a0002c0001t0002g0045 a0002c0001t0002g0046 a0002c0001t0002g0047 a0002c0001t0002g0048 a0002c0001t0002g0049 a0002c0001t0002g0050 a0002c0001t0002g0051 a0002c0001t0002g0052 a0002c0001t0002g0054 a0002c0001t0002g0055 a0002c0001t0002g0056 a0002c0001t0002g0058 a0002c0001t0002g0059 a0002c0001t0002g0060 a0002c0001t0002g0061 a0002c0001t0002g0062 a0002c0001t0002g0064 a0002c0001t0002g0065 a0002c0001t0002g0066 a0002c0001t0002g0067 a0002c0001t0002g0069 a0002c0001t0002g0070 a0002c0001t0002g0071 a0002c0001t0002g0072 a0002c0001t0002g0073 a0002c0001t0002g0074 a0002c0001t0002g0075 a0002c0001t0002g0076 a0002c0001t0002g0077 a0002c0001t0002g0082 a0002c0001t0002g0083 a0002c0001t0002g0084 a0002c0020t0002g0034 a0003c0005t0001g0094 a0003c0005t0001g0095 a0003c0005t0001g0268 a0003c0005t0001g0269 a0003c0005t0001g0271 a0003c0005t0001g0273 a0003c0005t0001g0274 a0003c0005t0001g0275 a0003c0005t0001g0276 a0003c0005t0001g0277 a0003c0005t0001g0278 a0003c0005t0001g0279 a0003c0005t0001g0280 a0003c0005t0001g0281 a0003c0005t0001g0282 a0003c0005t0001g0283 a0003c0005t0001g0284 a0003c0005t0001g0285 a0003c0005t0001g0286 a0006c0008t0001g0092 a0006c0008t0001g0205 a0006c0008t0001g0223 a0006c0008t0001g0229 a0006c0008t0001g0230 a0006c0008t0001g0231 a0006c0008t0001g0232 a0009c0012t0001g0210 a0009c0019t0001g0209 a0010c0013t0001g0239 a0010c0013t0001g0259 a0011c0015t0001g0296 a0011c0015t0001g0297 a0013c0014t0002g0063 a0016c0021t0001g0212 a0018c0027t0002g0022 a0021c0017t0001g0225	175	238	0.7353	392	c.360 others(411): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAG GTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGT GAAGCAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTTT GGGGGAGGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(385): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCC GCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCT TCGCCATCCACGGCGCCTCCCGCACCACCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02074.hp2 NA19004.hp1 others(1): Show HG02015.hp1 HG02074.hp2 NA19004.hp1 NA19012.hp1	a0002 a0002	a0002c0001 a0002c0029 a0002c0001 a0002c0029	a0002c0001t0002 a0002c0029t0002 a0002c0001t0002 a0002c0029t0002	a0002c0001t0002g0078 a0002c0001t0002g0080 a0002c0001t0002g0085 others(1): Show a0002c0001t0002g0078 a0002c0001t0002g0080 a0002c0001t0002g0085 a0002c0029t0002g0079	4	67	0.0597	392	c.360 others(411): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGCGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAG GTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGT GAAGCAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTTT GGGGGAGGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(385): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCATGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCC GCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCT TCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0002 a0013c0014t0002	a0013c0014t0002g0057 a0013c0014t0002g0057	1	64	0.0156	392	c.360 others(411): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGA GGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAG GTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCATGGATGGT GAAGCAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTTT GGGGGAGGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNIH4_chr1_224351879_224384452	224378516	A A	ACTGAGGC others(385): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTG AGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGA GGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAG GCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGG CCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0063 a0001c0001t0044g0063	1	16	0.0625	392	c.27 others(403): Show c.2702_*3093dupCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACAT CTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCT GAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTG AATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGA ATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAA TGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAAT GCTGAGGC	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3094	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(385): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCT CTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCC CCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTC CTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0046 a0001c0001t0031g0046	1	2	0.5000	392	c.162 others(413): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTC CTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCT CCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCC TCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A3_chr2_227159624_227319792	227203424	T T	TGTGTGTA others(385): Show TGTGTGTATATGTGTATATACACATACATGTGTGTATATGTGTATATACA CATACACATACATGTGTGTATATGTGTATATACACATACACATACATGTG TGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATATA CACATACACATACATGTGTGTATATGTGTATATACACATACACATACATG TGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTATATA CACATACACATACATGTGTGTATATGTGTATATACACATACACATACATG TGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATA TACACATACACATACATGTGTGTATATGTGTATATACACATAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0295 a0005c0005t0007g0295	1	313	0.0032	392	c.88- others(409): Show c.88-34544_88-34543insGTGTGTATATGTGTATATACACATACAT GTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTAT ATACACATACACATACATGTGTGTATATGTGTATATACACATACACATAC ATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGT ATATACACATACACATACATGTGTGTATATGTGTATATACACATACACAT ACATGTGTGTATATGTATATACACATACACATACATGTGTGTATATGTGT ATATACACATACACATACATGTGTGTATATGTGTATATACACATACACAT ACATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGT GTATATACACATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COQ8A_chr1_226935294_226992544	226960391	A A	AGTGGTAC others(385): Show AGTGGTACTTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGGTGG TGGTGGTACTTGGTGATGGTACTTGGTGGTGGTGGTACTTGGTGGTGGCA GTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGTGGTACT TGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCTTGGTGGTGGTGG TGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTG GTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTACTTGGTGGTGGT GGCGGTGGCACTTGGTGGTGGTGCTTGGTGGTGGTGATGGTACTTGGTGG TGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGGTGGTG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	20	0.0500	392	c.-9- others(405): Show c.-9-981_-9-980insACTTGGTGGTGGTGGTGCTTGGTGGTGGTGGT ACTTGGTGGTGGTGGTGGTACTTGGTGATGGTACTTGGTGGTGGTGGTAC TTGGTGGTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGT GGTGGTGGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCT TGGTGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGG TGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTA CTTGGTGGTGGTGGCGGTGGCACTTGGTGGTGGTGCTTGGTGGTGGTGAT GGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGG TGGTGGTGGT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226960391	A A	AGTGGTAC others(385): Show AGTGGTACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGG TGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGGTGGTACTTGGTG GTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGT GGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCTTGGTGG TGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGG TACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTACTTGGT GGTGGTGGCGGTGGCACTTGGTGGTGGTGCTTGGTGGTGGTGATGGTACT TGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGGTGGTG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0177 a0001c0001t0004g0177	1	20	0.0500	392	c.-9- others(405): Show c.-9-981_-9-980insACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGT GGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGG TGGTACTTGGTGGTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTT GGTGGTGGTGGTGGTACTTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGT GGTGCTTGGTGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGG TGGTGGTGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTG GCGGTACTTGGTGGTGGTGGCGGTGGCACTTGGTGGTGGTGCTTGGTGGT GGTGATGGTACTTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGG TGGTGGTGGT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE7_chr16_89570758_89602246	89597895	A A	ATCCCCCC others(385): Show ATCCCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGT CCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCC CCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCAC CCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCC ATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCC ATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCAC CCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	346	0.0029	392	c.12 others(403): Show c.1274_*1275insTCCCCCCGCCCACCCATCCGTCCACCCATCCCCC CGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCA TCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTC CACCCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCA CCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCC CACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCA TCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTC CACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCA CCCATCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		650		chr16	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(385): Show ATATATATATGTGTATATATATATATATATATATATATATGTGTATATAT ATATATATATATATATGTGTGTATATATATATATATATATATATATATGT GTATATATATATATATATATATATATGTGTATATATATATATATATATAT ATGTGTATATATATATATATATATATATATGTGTATATATATATATATAT ATGTGTATATATATATATATGTGTATATATATATATATATATATGTGTAT ATATATATATATATGTGTATATATATATATATATATATATGTGTATATAT ATATATATATATATATATGTGTATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0256 a0002c0002t0003g0256	1	218	0.0046	392	c.290 others(407): Show c.290-150_290-149insTATATATGTGTATATATATATATATATATA TATATATGTGTATATATATATATATATATATATGTGTGTATATATATATA TATATATATATATATGTGTATATATATATATATATATATATATGTGTATA TATATATATATATATATATGTGTATATATATATATATATATATATATGTG TATATATATATATATATATGTGTATATATATATATATGTGTATATATATA TATATATATATGTGTATATATATATATATATGTGTATATATATATATATA TATATATGTGTATATATATATATATATATATATATGTGTATATATATATA TATATGTGTATATATATATATATATATATGTGTATATATATATATATATA TATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCBLD2_chr3_98790941_98906695	98836730	C C	CCCCTCCA others(385): Show CCCCTCCACCTCCCTCCCGGAGGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCATCTCCCTCCCGGAC GGGGTGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGAGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18955.hp2 HG02040.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0017 a0001c0002t0002 a0001c0002t0017	a0001c0002t0002g0061 a0001c0002t0017g0041 a0001c0002t0002g0061 a0001c0002t0017g0041	2	328	0.0061	392	c.572 others(411): Show c.572-11365_572-11364insTGTCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCTCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCT GCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGGTCAGCCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCTCCG GGAGGGAGGTGGAGGG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DEAF1_chr11_639233_700222	642823	G G	GGGTCAGA others(385): Show GGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGTGGGGTGAGGGTCAGAGGAAGGGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGCTGAGGGTCAGAGG AAGGGACAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGGTGAGGGT CAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGT GAGGGTCACAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGACACAGGAAGGGCCAGGCGGGCTGAGGGTCAGAGGAAGG GACAGGCGGGGTGAGGGTCACAGGAAGGGACAGGCGGGATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	342	0.0029	392	c.17 others(403): Show c.1726_*1727insATTATCCCGCCTGTCCCTTCCTGTGACCCTCACC CCGCCTGTCCCTTCCTCTGACCCTCAGCCCGCCTGGCCCTTCCTGTGTCC CTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCT GTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCC CTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTGTGTCCCTCACCCCGC CTGTCCCTTCCTCTGACCCTCAGCCCGCCTGGCCCTTCCTCTGACCCTCA CCCCGCCTGGCCCTTCCTCTGACCCTCACCCCACCTGGCCCTTCCTCTGA CCCTCACCCCGCCTGTCCCTTCCTGTGTCCCTCACCCCGCCTGGCCCTTC CTCTGACC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1409		chr11	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGTGT others(385): Show GGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGA GGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	324	0.0031	392	c.-42 others(403): Show c.-4261_-4260insGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGT CGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(385): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGA GTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	164	0.0061	392	c.-42 others(403): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(385): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	164	0.0061	392	c.-42 others(403): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(385): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	164	0.0061	392	c.-42 others(403): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(385): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGT CGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT TGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	164	0.0061	392	c.-42 others(403): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGG GGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(385): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	307	0.0033	392	c.-42 others(403): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(385): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	307	0.0033	392	c.-42 others(403): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DIP2C_chr10_269201_694668	321531	G G	GGGGGTTC others(385): Show GGGGGTTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCAGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCAGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG CTCCAGCTAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGC TCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCT CCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0045 a0001c0013t0002g0045	1	85	0.0118	392	c.392 others(411): Show c.3924+5474_3924+5475insGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTAGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGC CGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCC GGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCG GTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGG TCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGT CTCTCGCTGGAACCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	322814	G G	GGCGAGAG others(385): Show GGCGAGAGGCCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA GCGAGAGGCCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCAGC GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAG AGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGA GACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0034 a0001c0006t0001g0034	1	67	0.0149	392	c.392 others(411): Show c.3924+4191_3924+4192insTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAGCGCCGGTCTCTCGCCGGACCCCCGCACCCCCGACTGACTGT TCTAACAACACTGGTCTCTCACTGGAGCCCCGCACCCCCGACTGACTGTT CTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTC TAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCT AACAGCGCCGGTCTCTCGCTGGACCCCCGCACCCCCGACTGACTGTTCTA ACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAA CAGCGCCGGCCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAAC AGCGCCGGCCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DRD4_chr11_632269_645706	642823	G G	GGGTCAGA others(385): Show GGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGTGGGGTGAGGGTCAGAGGAAGGGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGCTGAGGGTCAGAGG AAGGGACAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGGTGAGGGT CAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGT GAGGGTCACAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGACACAGGAAGGGCCAGGCGGGCTGAGGGTCAGAGGAAGG GACAGGCGGGGTGAGGGTCACAGGAAGGGACAGGCGGGATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0004 a0003c0004t0001g0004	1	419	0.0024	392	c.22 others(403): Show c.2220_*2221insGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACAC AGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGTGGGGTGAG GGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGG GCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGACACAGGAAGGGAC AGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGA AGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGACAGGCGGGGTGAGGGTC AGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGCCAGGCGGGCTG AGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCACAGGAAGGGACAGGC GGGATAAT	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding		2118		chr11	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(385): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATAATATGTTATATTATATATTATATTATAT ATAATAATATGTAATATATAATTATATTATATACTATTATAATAATTATA ATAATATTAATATTATATTATAATTATAATAGACACATATAATAATAATT ATAATAATTAGCAGATTATTTTATAATAATATTATATAATATGTATTAAT AACATATAATATAATATACAATCTATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(37): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG01243.hp1 HG01261.hp1 HG01891.hp1 HG01975.hp1 HG02083.hp1 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG04184.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18949.hp1 NA18950.hp2 NA18957.hp1 NA18980.hp2 NA18995.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19075.hp1 NA19085.hp1 NA19088.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0003g0010 a0001c0001t0003g0012	40	43	0.9302	392	c.40 others(403): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAATATATAATATATTATATATTATAATAATATATATGTTAT GTAATATATAATATATTATATATAATAATATATAATATAATATATAATAT ATTAAGATTATATATGATATGTAATATATATAATTATATATCATATATAA TTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
FBH1_chr10_5885243_5942593	5916574	G G	GGGGAAGT others(385): Show GGGGAAGTGTTAGGGATCTGAGGATGGGGAAACGGGAAGTGTTAGGGGTC TGAGGATGGGGAAACGGGAAATGTTAGGGATCTGAGGATGGGGAAATGGG AAGTGTTAGGGATCTGAGGATGGGGGATCAGGGGAAGTGTTAGGGATCTG AGGATGGGGGAACAGGGGAAGTGTTAGGGATCTGAGGATGGGGAAACGGG AAGTGTTAGGGATCTGAGGATGGGGAAACGGGAAGTGTTAGGGGTCTGAG GATGGGGAAACGGGAAATGTTAGGGATCTGAGGATGGGGAAATGGGAAGT GTTAGGGATCTGAGGATGGGGGATCAGGGGAAGTGTTAGGGATCTGAGGA TGGGGGAACAGGGGAAGTGTTAGGGATCTGAGGATGGGGAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02451.hp1 others(1): Show HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 others(1): Show a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206	4	342	0.0117	392	c.178 others(409): Show c.1788+132_1788+133insATCTGAGGATGGGGAAACGGGAAGTGTT AGGGGTCTGAGGATGGGGAAACGGGAAATGTTAGGGATCTGAGGATGGGG AAATGGGAAGTGTTAGGGATCTGAGGATGGGGGATCAGGGGAAGTGTTAG GGATCTGAGGATGGGGGAACAGGGGAAGTGTTAGGGATCTGAGGATGGGG AAACGGGAAGTGTTAGGGATCTGAGGATGGGGAAACGGGAAGTGTTAGGG GTCTGAGGATGGGGAAACGGGAAATGTTAGGGATCTGAGGATGGGGAAAT GGGAAGTGTTAGGGATCTGAGGATGGGGGATCAGGGGAAGTGTTAGGGAT CTGAGGATGGGGGAACAGGGGAAGTGTTAGGGATCTGAGGATGGGGAAAC GGGAAGTGTTAGGG	FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(385): Show GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02886.hp1 HG02922.hp1 others(3): Show HG02055.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0306 a0001c0001t0004g0308 others(1): Show a0001c0001t0004g0005 a0001c0001t0004g0306 a0001c0001t0004g0308 a0001c0001t0004g0309	6	229	0.0262	392	c.39 others(403): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGC CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCGTC TCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCC TCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTC CCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(385): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA19000.hp2 NA19010.hp2 NA18747.hp2 NA19000.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0045 a0001c0001t0008g0013 a0001c0001t0008g0045	3	226	0.0133	392	c.39 others(403): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTC TCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCC TCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTC CCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(385): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CAGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0300 a0001c0001t0004g0300	1	224	0.0045	392	c.39 others(403): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCGTCTCCCTCTCC CTCTCCCTGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCC CTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCC GTCTCCCTCTCCCTGTCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTC TCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCC TCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTC CCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLT3_chr13_27998274_28105576	27999085	A A	ATATATAT others(385): Show ATATATATTTATATACATATAAATATATATTTACATACATATAAATATAT ATTTACATACATATAAATATATACATTTATATACATATAAATATATACAT ATATACATATAAATATATATTTATATACATATAAATATATATATTTATAT ATATTTATATATATATAAATATATATATATTTGTATATATATATAAATAT ATATATATTTATATATATATAAATATATATATATTTATATATATATACAT ATAAATATATATTTATATACATATAAATATATAATTATATACATATAAAT ATATAATTATATACATATAAATATATATAATTATATACATATAAATATAT ATTTATATACATATAAATTTATATACATATAAATATAAATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	213	0.0047	392	c.49 others(403): Show c.4966_*4967insAATATTTATATTTATATGTATATAAATTTATATG TATATAAATATATATTTATATGTATATAATTATATATATTTATATGTATA TAATTATATATTTATATGTATATAATTATATATTTATATGTATATAAATA TATATTTATATGTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATATATATACAAATATATATATATTTATATATA TATAAATATATATAAATATATATATTTATATGTATATAAATATATATTTA TATGTATATATGTATATATTTATATGTATATAAATGTATATATTTATATG TATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATATA AATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4188		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(385): Show GTATATACATATATATGTATGTATATTATATACATATAAATATATATGTA TATAAATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATTTACATACATATAAATATATATTTACATACATATA AATATATATATTTATATACATATAATACATATACATATATACATATAAAT ATATATTTATATACATATAAATATATATATATTTATATATATTTATATAT ATACATATAAATATATATATATTTATATATATTTATATATATACATATAA ATATATATTTATATACATATAAATATATAATTATATACATATAAATATAT ATAATTATATACATATAAATATATATTTATATACATATAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0219 a0003c0019t0001g0219	1	28	0.0357	392	c.49 others(403): Show c.4960_*4961insAATTTATATGTATATAAATATATATTTATATGTA TATAATTATATATATTTATATGTATATAATTATATATTTATATGTATATA AATATATATTTATATGTATATATATAAATATATATAAATATATATATATT TATATGTATATATATAAATATATATAAATATATATATATTTATATGTATA TAAATATATATTTATATGTATATATGTATATGTATTATATGTATATAAAT ATATATATTTATATGTATGTAAATATATATTTATATGTATGTAAATATAT ATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATTT ATATTTATATACATATATATTTATATGTATATAATATACATACATATATA TGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GARIN2_chr14_67184440_67228940	67193191	T T	TATCTATA others(385): Show TATCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAGACA TCTATCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAGA TATCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAGATA TCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAAACATC TATCTATATATCTCTATATAGATATCTATATATCTCTATATAGATATCTA TATATCTCTATATAGACATCTATCTATATATCTCTATATAGACATCTATC TATATATCTCTATATAGATATCTATATATCTCTATATAGACATCTATCTA TATATCTCTATATAAACATCTATCTATATATCTCTATATAGAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0032 a0004c0008t0001g0191 a0004c0008t0001g0032 a0004c0008t0001g0191	3	330	0.0091	392	c.-11 others(411): Show c.-114+3721_-114+3722insTATCTATATATCTCTATATAGACATC TATCTATATATCTCTATATAGATATCTATATATCTCTATATAGACATCTA TCTATATATCTCTATATAAACATCTATCTATATATCTCTATATAGATATC TATATATCTCTATATAGATATCTATATATCTCTATATAGACATCTATCTA TATATCTCTATATAGACATCTATCTATATATCTCTATATAGATATCTATA TATCTCTATATAGACATCTATCTATATATCTCTATATAAACATCTATCTA TATATCTCTATATAGACATCTATATATCTCTATATAGACATCTATCTATA TATCTCTATATAGACATCTATCTATATATCTCTATATAGACATCTATCTA TATATCTCTATATAGA	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(385): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCTCCCCTCCTTCCCCCTCCTCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTT CCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCT TCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTC CCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCC TTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCCCCCTTCCCCC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	102	0.0098	392	c.972 others(407): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCTCCCC TCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCC CTCCCCTTCCCCTCCTTCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTT CCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCC CCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCC CTTCCCCCTCCCCTCCTTCCCCTTTCCACCTTCCCCCTCCCCTCCTTCCC CCTTCCCCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CACATATA others(385): Show CACATATATATGTACACATATATGTACACATATATATGTACACATATATG TACACATATATATGTACACATATATGTACACATATATATGTACACATATA TGTACACATATATATGTACACATATATGTACACATATATATGTACACATA TATGTACACATATATATGTACACATATATGTACACATATATATGTACACA TATATGTACACATATATATGTACACATATATGTACACATATATATGTACA CATATATGTACACATATATATGTACACATATATGTACACATATATATGTA CACATATATGTACACATATATATGTACACATATATGTACACATATATATG TACATATATATATACATATATATGTACACATATATATATACAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0101 a0004c0008t0002g0101	1	169	0.0059	392	c.167 others(407): Show c.1678-75_1678-74insCATATATATGTACACATATATGTACACATA TATATGTACACATATATGTACACATATATATGTACACATATATGTACACA TATATATGTACACATATATGTACACATATATATGTACACATATATGTACA CATATATATGTACACATATATGTACACATATATATGTACACATATATGTA CACATATATATGTACACATATATGTACACATATATATGTACACATATATG TACACATATATATGTACACATATATGTACACATATATATGTACACATATA TGTACACATATATATGTACACATATATGTACACATATATATGTACACATA TATGTACACATATATATGTACATATATATATACATATATATGTACACATA TATATATACATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCTCCC others(385): Show CTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCC TCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCC CCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	207	0.0048	392	c.427 others(409): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106709971	A A	ACATGTAT others(385): Show ACATGTATATAACATATACTTATATATTATATACATGTATATAACATATA CTTATATATTATATACATGTATATAACATATACTTATATATTATATACAT GTATATAACATATACTTATATATTATATACATGTATATAACATATAGTTA TGTATATTATATACATGTATATAACATATAGTTATGTATATTATATACAT GTATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGT TATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATAC ATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATATA GTTATGTATATTATATACATGTATATAACATATAGTTATGTAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02572.hp2 HG02965.hp1 others(4): Show HG00673.hp2 HG02572.hp2 HG02965.hp1 HG03579.hp1 HG04228.hp1 NA18941.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0008 a0001c0001t0026 a0001c0001t0028 others(4): Show a0001c0001t0008 a0001c0001t0026 a0001c0001t0028 a0001c0001t0048 a0001c0002t0001 a0001c0003t0017 a0001c0003t0026	a0001c0001t0008g0035 a0001c0001t0026g0068 a0001c0001t0028g0073 others(4): Show a0001c0001t0008g0035 a0001c0001t0026g0068 a0001c0001t0028g0073 a0001c0001t0048g0003 a0001c0002t0001g0204 a0001c0003t0017g0231 a0001c0003t0026g0230	7	116	0.0603	392	c.183 others(411): Show c.1837-1306_1837-1305insATACATAACTATATGTTATATACATG TATATAATATACATAACTATATGTTATATACATGTATATAATATACATAA CTATATGTTATATACATGTATATAATATACATAACTATATGTTATATACA TGTATATAATATACATAACTATATGTTATATACATGTATATAATATACAT AACTATATGTTATATACATGTATATAATATACATAACTATATGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAT AAGTATATGTTATATACATGTATATAATATATAAGTATATGTTATATACA TGTATATAATATATAAGTATATGTTATATACATGTATATAATATATAAGT ATATGTTATATACATG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HERC6_chr4_88373852_88448097	88380374	T T	TATATATA others(385): Show TATATATAATATATAAATATATATATAATATATAAATATATATAATATAT AAATATATATATAATATATAAATATATATAATATATAAATATATATATAA TATATAAATATATATAATATATAAATATATATATAATATATAAATATATA TAATATATAAATATATATATAATATATAAATATATATAATATATAAATAT ATATAATATATAAATATATATATAATATATAAATTTATATATTTATATAA TATATAATATATAATAAAATAATATATATAATATATATATAAATTATATA ATTATATAATATAATATATATAAAATAATATATATAAAATAATTATATAT AATATATAAATATATATAATATATAAATATATATATAATATAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	87	0.0115	392	c.199 others(409): Show c.199+1261_199+1262insATATATAAATATATATATAATATATAAA TATATATAATATATAAATATATATATAATATATAAATATATATAATATAT AAATATATATATAATATATAAATATATATAATATATAAATATATATATAA TATATAAATATATATAATATATAAATATATATATAATATATAAATATATA TAATATATAAATATATATAATATATAAATATATATATAATATATAAATTT ATATATTTATATAATATATAATATATAATAAAATAATATATATAATATAT ATATAAATTATATAATTATATAATATAATATATATAAAATAATATATATA AAATAATTATATATAATATATAAATATATATAATATATAAATATATATAT AATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HRAS_chr11_527242_540576	530503	G G	GAGTGTGG others(385): Show GAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAG AAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCT GGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCG TCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGT GTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGG GCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAG AGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCC CTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03130.hp2 HG03579.hp1 HG02622.hp1 HG03130.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	396	0.0076	392	c.20 others(403): Show c.2024_*2025insGGCCCTTCTCTCCAGGGGACGCCACACTGGCCCT TCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACT CGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGC CACACTCGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGG GGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTC TCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCGCC CTTCTCTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCACA CTGGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGAC GCCACACT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1738		chr11	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	G G	GTGTCACT others(385): Show GTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAAT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	152	0.0066	392	c.80 others(401): Show c.802_*803insAACACACACTGAAGGCCTGAGGAAGACGAGATGTCA CAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAG ATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAA GACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCT GAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGA AGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACA CACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACA AACACACATTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCA GTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	802		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406247	G G	GTGTGTGT others(385): Show GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0091 a0001c0001t0084g0091	1	258	0.0039	392	c.58 others(401): Show c.586_*587insTTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTC CACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACA GAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGAT GTCACAGAGGTCCACTCAGTGACAAACACACATTGAAGGCCTGAGGAAGA CGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGA GGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAG GCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACA TTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAA CACACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	586		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406286	T T	TCTTCCTC others(385): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0094 a0001c0001t0063g0094	1	261	0.0038	392	c.54 others(401): Show c.547_*548insCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	547		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406398	T T	TCTTCCTC others(385): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTT TGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTG TGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0080 a0001c0001t0008g0080	1	256	0.0039	392	c.43 others(401): Show c.435_*436insCCTAGATGTCACAGAGGTCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGT CCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCAC AGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGA TGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAG ACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTG AGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	435		chr2	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(385): Show GATATATATATATCCAAGAGGATATATATATATACACAAGAGGATATATA TATATACACACAAGAGGATATATATATGTACACACAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGATATATATATATATATATATATCCA AGAGGATATATATATATATATATATATATCCAAGAGGATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	189	0.0053	392	c.-67 others(411): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATACACAA GAGGATATATATATATACACACAAGAGGATATATATATGTACACACAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATATATCCAAGAGGAT ATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results