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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATG others(94): Show TATATATGTATGTATATATATATATATATATATGTGTGTGTATATATATG TATACATATATATATGTGTGTGTATATATATGTATATATATATATATATA TA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0258 a0002c0001t0007g0258	1	194	0.0052	101	c.416 others(122): Show c.4162-25661_4162-25660insATATATGTATGTATATATATATAT ATATATATGTGTGTGTATATATATGTATACATATATATATGTGTGTGTAT ATATATGTATATATATATATATATATA		AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36						chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATG others(94): Show TATATATGTATGTATATATATATATATATATGTGTGTGTGTATATATATG TATACATATATATATGTGTGTGTATATATATGTATATATATATATATATA TA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0167 a0002c0017t0002g0167	1	194	0.0052	101	c.416 others(122): Show c.4162-25661_4162-25660insATATATGTATGTATATATATATAT ATATATGTGTGTGTGTATATATATGTATACATATATATATGTGTGTGTAT ATATATGTATATATATATATATATATA		AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36						chr15	TogoVar
ALLC_chr2_3653200_3707671	3690402	C C	CCCCTCCC others(94): Show CCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCACCCTCCCCCTCCC CT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0162 a0002c0002t0002g0162	1	245	0.0041	101	c.512 others(118): Show c.512-5312_512-5311insTCCCCCCTCCCCCTCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCACCCTCCCCCTCCCCTCCC		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8107937	G G	GAAAGAAA others(94): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0301 a0001c0002t0001g0301	1	417	0.0024	101	c.168 others(118): Show c.1684+530_1684+531insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ANKRD24_chr19_4177689_4229814	4193846	A A	AGGGAGGG others(94): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18952.hp2 HG02523.hp1 NA18952.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0004 a0002c0001 a0004c0004	a0002c0001t0002 a0004c0004t0002 a0002c0001t0002 a0004c0004t0002	a0002c0001t0002g0278 a0004c0004t0002g0289 a0002c0001t0002g0278 a0004c0004t0002g0289	2	273	0.0073	101	c.37- others(116): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGG		ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
ANXA10_chr4_168087537_168192736	168156183	T T	TTATATAT others(94): Show TTATATATAATATATATATTATATTATATATTATATATTATATATATATT ATATTATATATTATATATTATATATATATTATATTATATATTATATATTA TA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03195.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0232 a0001c0001t0001g0006 a0001c0001t0001g0232	3	144	0.0208	101	c.196 others(118): Show c.196-6338_196-6337insAATATATATATTATATTATATATTATAT ATTATATATATATTATATTATATATTATATATTATATATATATTATATTA TATATTATATATTATATATATAT		ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
AP3S2_chr15_89825599_89898994	89854666	T T	TGCCCGGC others(94): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCC CC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	304	0.0033	101	c.345 others(120): Show c.345+16808_345+16809insGGGGGGGCCGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGC		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(94): Show TGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0120 a0001c0001t0046g0120	1	115	0.0087	101	c.345 others(120): Show c.345+16678_345+16679insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCC		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(94): Show TGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	115	0.0087	101	c.345 others(120): Show c.345+16678_345+16679insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCCGACCCCCCC		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(94): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0147 a0001c0001t0015g0147	1	115	0.0087	101	c.345 others(120): Show c.345+16678_345+16679insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCC		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(94): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	115	0.0087	101	c.345 others(120): Show c.345+16678_345+16679insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCC		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854796	T T	TGGGGGGG others(94): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	115	0.0087	101	c.345 others(120): Show c.345+16678_345+16679insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCC		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854894	T T	TGGGGGGG others(94): Show TGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp1 HG02647.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0085 a0001c0001t0005g0001 a0001c0001t0005g0085	2	136	0.0147	101	c.345 others(120): Show c.345+16580_345+16581insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCC		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
ARHGAP35_chr19_46855997_47010077	46879587	A A	AAAATAAA others(94): Show AAAATAAATAAATAAATAAAGGTTGCAGTGAGCCAAGATCGCGCCACTGC ACTCCAGCCAGGACAACAGAGTGAGACTCCATCTCAAAATAAATAAATAA AT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG00738.hp1 others(36): Show HG00408.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01891.hp1 HG02015.hp2 HG02071.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp1 HG03710.hp2 HG04199.hp1 HG04204.hp1 NA18943.hp2 NA18950.hp1 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18970.hp1 NA18978.hp1 NA18983.hp1 NA19002.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(11): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0026 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0002c0004t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 others(36): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0128 a0001c0001t0002g0224 a0001c0001t0002g0253 a0001c0001t0006g0023 a0001c0001t0007g0056 a0001c0001t0007g0057 a0001c0001t0007g0058 a0001c0001t0007g0059 a0001c0001t0010g0097 a0001c0001t0012g0226 a0001c0001t0021g0062 a0001c0001t0026g0041 a0001c0001t0039g0063 a0001c0001t0041g0043 a0001c0001t0042g0018 a0001c0001t0043g0225 a0001c0001t0045g0229 a0001c0001t0046g0066 a0002c0004t0002g0003	39	127	0.3071	101	c.-18 others(122): Show c.-189+18397_-189+18398insGGTTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCAGGACAACAGAGTGAGACTCCATCTCAAAATAAAT AAATAAATAAATAAATAAATAAATAAA		ARHGAP35	ENSG00000160007.20	transcript	ENST00000672722.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP6_chrX_11132544_11670920	11590862	A A	AGAAGAGA others(94): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAAAGAAAAGAAGGAA AG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0029 a0002c0002t0015g0029	1	68	0.0147	101	c.588 others(120): Show c.588+73378_588+73379insCTTTCCTTCTTTTCTTTCTTCTCTTC TCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC TCTTCTCTTCTCTTCTCTTCTCTTC		ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12						chrX	TogoVar
ARHGEF18_chr19_7343937_7477478	7451037	C C	CGTTTCCG others(94): Show CGTTTCCGAGATGTTAGTGTGGATCTTGCTCTCCGTTTCCGAGATGTTAA TATGGGATCTTGCTCTCCGTTTCCCATATGTTAATACGGGATCTTGCTTT CT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0032 a0001c0001t0011g0032	1	296	0.0034	101	c.173 others(118): Show c.1738-112_1738-111insGTTTCCGAGATGTTAGTGTGGATCTTGC TCTCCGTTTCCGAGATGTTAATATGGGATCTTGCTCTCCGTTTCCCATAT GTTAATACGGGATCTTGCTTTCT		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	15/28						chr19	TogoVar
ASAP1_chr8_130047104_130448674	130050211	A A	AGAACACA others(94): Show AGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACGGGGGGAAGAG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	262	0.0038	101	c.45 others(112): Show c.4519_*4520insCCCTCTTCCCCCCGTGTTCCCCTCTGCCCCCCAT GTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCC TCTGCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1892		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050211	A A	AGAACACA others(94): Show AGAACACATGGGGGGCAGAGGGGAACACGGGGGGAAGAGGGGAACACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACGGGGGGAAGAG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	262	0.0038	101	c.45 others(112): Show c.4519_*4520insCCCTCTTCCCCCCGTGTTCCCCTCTGCCCCCCAT GTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTTCCCCCCGTGTTCCCCT CTGCCCCCCATGTGTTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					1892		chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198269	G G	GGAAGGAG others(94): Show GGAAGGAGATGGGGGAGGGCAGATGGGGGGGAGGGGGAGGGAAGGGGAGG GGAGAGGAGGGGAGGGGGACGGGAGGGGACGGGGAGGGGACGGGGAGGGG AC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	145	0.0069	101	c.311 others(118): Show c.311-1281_311-1280insGTCCCCTCCCCGTCCCCTCCCCGTCCCC TCCCGTCCCCCTCCCCTCCTCTCCCCTCCCCTTCCCTCCCCCTCCCCCCC ATCTGCCCTCCCCCATCTCCTTC		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9						chr10	TogoVar
ASRGL1_chr11_62332448_62398412	62386469	C C	CATAGATA others(94): Show CATAGATATGTACATATCATACATATCATAGATATGTACATATCATACAT ATCATAGATATGTACATATCATACATATCATAGATATGTACATATCATAC AT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	368	0.0027	101	c.492 others(118): Show c.492-2648_492-2647insCATACATATCATAGATATGTACATATCA TACATATCATAGATATGTACATATCATACATATCATAGATATGTACATAT CATACATATAGATATGTACATAT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP11A_chr13_112685038_112892168	112804042	T T	TCCCCTCC others(94): Show TCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTC CCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCT TC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0060 a0001c0017t0060	a0001c0017t0060g0053 a0001c0017t0060g0053	1	143	0.0070	101	c.163 others(116): Show c.163-912_163-911insCTCCTTTTCCTCCTTTCTTCCCTTCCTTCC CTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATC CCCTCTCTGCCCTCCTTCCCC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804298	C C	CTCCTTTT others(94): Show CTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCT CCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCC CT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0005 a0003c0007t0005	a0003c0007t0005g0177 a0003c0007t0005g0177	1	233	0.0043	101	c.163 others(116): Show c.163-645_163-644insTCTTCCCTTCCTTCCCTCATTCCCCTCATT CCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTC CTTCCCTTCCTTTTCCTCCTT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421137	G G	GTATATAT others(94): Show GTATATATATATATATATATAGTTTATATATATATAGTTTATATATATAA ACTATATATATATAAACTATATATATATATATACTATATATATATATATA TA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0161 a0001c0001t0025g0161	1	87	0.0115	101	c.331 others(120): Show c.3314-1171_3314-1170insTATATATATATATATATAGTATATAT ATATATATAGTTTATATATATATAGTTTATATATATAAACTATATATATA TAAACTATATATATATATATATATA		ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33						chr3	TogoVar
ATP13A5_chr3_193269789_193383753	193362775	T T	TTCTTTCT others(94): Show TTCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTCTTCTTTCTCTCTTTCTT TCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCTTTC TC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0031 a0004c0003t0001g0031	1	218	0.0046	101	c.385 others(116): Show c.385-139_385-138insGAGAAAGAAAGAGAGAAAGAAAGAGAGAAA GAAAGAGAGAAAGAAAGAGAGAAAGAAAGAGAGAAAGAAGAGAGAGAAAG AAAGAGAGAAAGAAAGAAAGA		ATP13A5	ENSG00000187527.12	transcript	ENST00000342358.9	protein_coding	3/29						chr3	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718337	C C	CGGAGGGA others(94): Show CGGAGGGAGACGTCCAGGAAGGAAGGGGGGAATGCAGTCACGGATGTCTG TGGAGGGAGACGTCCAGGAAGGAAGGGGGGGCGTGCAGTCACGGATGTCT GT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01978.hp1 HG02004.hp1 others(2): Show HG01943.hp2 HG01978.hp1 HG02004.hp1 NA18612.hp2 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0078 a0001c0001t0001g0214 a0001c0001t0001g0362 others(2): Show a0001c0001t0001g0078 a0001c0001t0001g0214 a0001c0001t0001g0362 a0002c0002t0001g0076 a0002c0002t0001g0273	5	374	0.0134	101	c.214 others(120): Show c.2140-2457_2140-2456insACAGACATCCGTGACTGCACGCCCCC CCTTCCTTCCTGGACGTCTCCCTCCACAGACATCCGTGACTGCATTCCCC CCTTCCTTCCTGGACGTCTCCCTCC		ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21						chr7	TogoVar
ATP8A2_chr13_25366974_26030851	25465685	T T	TTTCTTTC others(94): Show TTTCTTTCTTTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTC TC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0022 a0001c0001t0059g0022	1	119	0.0084	101	c.77- others(116): Show c.77-3291_77-3290insTCTTTCTTTCTTTCTTTCTTTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTC TCTCTTTCTCTCTTTCTCTCT		ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B4_chr15_49853238_50124233	50085960	T T	TATATGAT others(94): Show TATATGATATATATCATATATATATGATATATATCATATATATATGATAT ATATCATATATATATGATATATCAAATATATCATATATATATGATATATA TC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02965.hp2 HG03453.hp1 HG01255.hp1 HG02965.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0002g0025 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0002g0025	3	240	0.0125	101	c.29- others(118): Show c.29-11776_29-11775insGATATATATCATATATATATGATATATT TGATATATCATATATATATGATATATATCATATATATATGATATATATCA TATATATATGATATATATCATAT		ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27						chr15	TogoVar
B4GALNT4_chr11_364499_387117	374861	G G	GAGGGAGG others(94): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAG GA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0161	1	118	0.0085	101	c.784 others(116): Show c.784-593_784-592insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGAAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374899	G G	GAGGGAGG others(94): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0131 a0001c0005t0002g0131	1	138	0.0072	101	c.784 others(116): Show c.784-555_784-554insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP3_chr16_1328645_1354439	1346751	C C	CGGAGGCC others(94): Show CGGAGGCCCTGTGGGAGCTACTCCTCCAGGCCATTCTGCAGGTGGGGCCA GCGGGGCAGGTGGGGCTGGCCCGTGGTCACTGATGCTGCCCTGCAGGGTG CT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01069.hp2 HG02970.hp2 HG03486.hp2 HG01069.hp2 HG02970.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132	3	354	0.0085	101	c.264 others(113): Show c.2643-54_2689dupTGGGGCCAGCGGGGCAGGTGGGGCTGGCCCGTG GTCACTGATGCTGCCCTGCAGGGTGCTGGAGGCCCTGTGGGAGCTACTCC TCCAGGCCATTCTGCAGG	p.Ala others(5): Show p.Ala897fs	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	28/34	2805/4531	2690/3459	897/1152		INFO_REALIGN_3_PRIME	chr16	TogoVar
BRF1_chr14_105204286_105306001	105231696	G G	GGCAGCCC others(94): Show GGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	70	0.0143	101	c.695 others(118): Show c.695-2784_695-2783insAGGCTGTCCCCCGCCCCCAGCTGGGCGA CTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGC TCCTGAGGGTGCCACGGGGCTGC		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
BRF1_chr14_105204286_105306001	105232717	A A	ACAGCCCC others(94): Show ACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGCGGGGGGACAGCCT GG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	18	0.0556	101	c.695 others(118): Show c.695-3805_695-3804insCCAGGCTGTCCCCCCGCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCTGAGATGCTAGGTTGTTG CTCCTGAGGGTGCCACGGGGCTG		BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17						chr14	TogoVar
BSG_chr19_567596_588493	570682	G G	GGAGGGGG others(94): Show GGAGGGGGCGGAGGGGTGGGTGGGGGAGGGGTGGAGGGGTGGGTGGAAGG GGCGGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGGTGGGGGGGGCGGAGG GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	128	0.0078	101	c.-19 others(112): Show c.-1953_-1952insGAGGGGGCGGAGGGGTGGGTGGGGGAGGGGTGGA GGGGTGGGTGGAAGGGGCGGGGGTGGGTGGGGGAGGGGCGGAGGGGTGGG TGGGGGGGGCGGAGGGT		BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding					1913		chr19	TogoVar
BSN_chr3_49549477_49676549	49605580	T T	TTATATAT others(94): Show TTATATATATTTATATATAATATATATTATATATAATATATATTTATATA TAATATATATTATATATTATATATATTTATATATAATATATATTATATAT TA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(24): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00733.hp2 HG00735.hp2 HG01074.hp1 HG01192.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp2 HG01928.hp2 HG02004.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG03098.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 NA18963.hp2 NA18973.hp2 NA18979.hp1 NA18991.hp1 NA19012.hp2	a0001 a0004 a0008 others(4): Show a0001 a0004 a0008 a0014 a0016 a0021 a0022	a0001c0001 a0004c0006 a0004c0022 others(5): Show a0001c0001 a0004c0006 a0004c0022 a0008c0014 a0014c0030 a0016c0026 a0021c0028 a0022c0031	a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 others(9): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0023 a0004c0006t0002 a0004c0022t0002 a0008c0014t0009 a0014c0030t0002 a0016c0026t0002 a0021c0028t0003 a0022c0031t0002	a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0103 others(24): Show a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0150 a0001c0001t0002g0160 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0009g0093 a0001c0001t0009g0148 a0001c0001t0012g0115 a0001c0001t0012g0135 a0001c0001t0020g0108 a0001c0001t0023g0144 a0004c0006t0002g0034 a0004c0006t0002g0036 a0004c0006t0002g0178 a0004c0022t0002g0033 a0008c0014t0009g0098 a0014c0030t0002g0142 a0016c0026t0002g0099 a0021c0028t0003g0149 a0022c0031t0002g0090	27	110	0.2455	101	c.225 others(120): Show c.225-19388_225-19387insATTTATATATAATATATATTATATAT AATATATATTTATATATAATATATATTATATATTATATATATTTATATAT AATATATATTATATATTATATATAT		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49605580	T T	TTATATAT others(94): Show TTATATATATTTATATATAATATATATTATATATTATATATATTTATATA TAATATATATTATATATTATATATATTTATATATAATATATATTATATAT TA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02486.hp2 HG02559.hp1 others(4): Show HG00323.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG03453.hp1 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015	a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 others(4): Show a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0011g0126 a0001c0001t0015g0157	7	90	0.0778	101	c.225 others(120): Show c.225-19388_225-19387insATTTATATATAATATATATTATATAT TATATATATTTATATATAATATATATTATATATTATATATATTTATATAT AATATATATTATATATTATATATAT		BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
BTN1A1_chr6_26495303_26515425	26514199	T T	TTATATAT others(94): Show TTATATATATATACACACACATATATAATATATGTGCACATATATATATT ATATATATATTATATATATATATATATATATATATATTATATATATATAA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	179	0.0056	101	c.50 others(112): Show c.5025_*5026insTATATATATATACACACACATATATAATATATGT GCACATATATATATTATATATATATTATATATATATATATATATATATAT ATTATATATATATAATA		BTN1A1	ENSG00000124557.14	transcript	ENST00000684113.1	protein_coding					3775		chr6	TogoVar
C10orf90_chr10_126419997_126675693	126564832	C C	CTCTATAT others(94): Show CTCTATATATATATTATATATATTATATATAATATATATTTTATATTATA TAAAATATATATTATATATAATATATTTTATATATTATATAAAAATATAT AT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	139	0.0072	101	c.314 others(120): Show c.314-50894_314-50893insATATATATTTTTATATAATATATAAA ATATATTATATATAATATATATTTTATATAATATAAAATATATATTATAT ATAATATATATAATATATATATAGA		C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9						chr10	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(94): Show TGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGT CCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGT GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0104 a0001c0001t0129g0104	1	165	0.0061	101	c.30 others(112): Show c.3065_*3066insTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCC CACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCAGGGCAG GACCCCGTCCCCCCCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1414		chr19	TogoVar
C2CD4C_chr19_400445_414147	404678	C C	CGGGGTCC others(94): Show CGGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAG GGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGA CG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	163	0.0061	101	c.24 others(112): Show c.2417_*2418insCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCC GTTCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACC CCTCAGGACAGGACCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					766		chr19	TogoVar
C2CD4C_chr19_400445_414147	404830	T T	TGGGGGGG others(94): Show TGGGGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGAGGGGGGATGGGGT CCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGGTCCTGTCCTGAGGGGTG TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0118 a0002c0003t0013g0118	1	223	0.0045	101	c.22 others(112): Show c.2265_*2266insCACACCCCTCAGGACAGGACCCCCGTCCCCCCCT CACACCCCTCAGGGCAGGACCCCATCCCCCCTCACACCCCTCGGGACAGG ACCCCGTCCCCCCCCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					614		chr19	TogoVar
CANT1_chr17_78986716_79014764	79004472	A A	AGTTAGGG others(94): Show AGTTAGGGAGAGGGGAGTTAGGGAGAGGGGAGCTGGGGGGGAGTTATGGA GCAAGGAGTTAGGGAGGGGGGAGTTAGGGAGATGGGAGTTAGGGAGAGGG GG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	372	0.0027	101	c.-14 others(120): Show c.-147+5191_-147+5192insCCCCCTCTCCCTAACTCCCATCTCCC TAACTCCCCCCTCCCTAACTCCTTGCTCCATAACTCCCCCCCAGCTCCCC TCTCCCTAACTCCCCTCTCCCTAAC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CCDC171_chr9_15548043_15979037	15883017	C C	CCTTCCTT others(94): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTGGCTGCCTTCCTCCCCTCCCATCCCCTCCCCTC CT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG01433.hp2 others(1): Show HG00140.hp1 HG01099.hp2 HG01433.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0080 a0002c0002t0002g0090 others(1): Show a0002c0002t0002g0076 a0002c0002t0002g0080 a0002c0002t0002g0090 a0002c0002t0002g0107	4	87	0.0460	101	c.360 others(120): Show c.3600+8356_3600+8357insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTGGCTGCCTTCCT CCCCTCCCATCCCCTCCCCTCCTCT		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC178_chr18_32932406_33445721	33179114	A A	ATATATAT others(94): Show ATATATATATATAAACTATATATATATAAACTATATATATAAACTATATA TATATAAACTATATATATATAAACTATATATATATAAACTATATATATAA AC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	53	0.0189	101	c.223 others(122): Show c.2238+32781_2238+32782insGTTTATATATATAGTTTATATATA TATAGTTTATATATATATAGTTTATATATATATAGTTTATATATATAGTT TATATATATATAGTTTATATATATATA		CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22						chr18	TogoVar
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(94): Show ATACACACACACACACACACACACACACACACACACACATATACATACAC ACACACACACATATATATACACACACATATATATATACACACACACACAC AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0167 a0002c0003t0003g0167	1	270	0.0037	101	c.13 others(112): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTA		CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding					1073		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6797863	A A	ATACACAC others(94): Show ATACACACACACACACACACACACACACACACACACATATACATACACAC ACACACACACATATATATACACACACATATATATATACACACACACACAC AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG04115.hp2 NA18939.hp2 others(3): Show HG03710.hp2 HG04115.hp2 NA18939.hp2 NA18943.hp2 NA18947.hp2 NA18963.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0021 a0002c0003t0003g0115 a0002c0003t0003g0118 others(2): Show a0002c0003t0003g0021 a0002c0003t0003g0115 a0002c0003t0003g0118 a0002c0003t0003g0124 a0002c0003t0003g0150	6	275	0.0218	101	c.13 others(112): Show c.1360_*1361insATGTGTGTGTGTGTGTATATATATATGTGTGTGT ATATATATGTGTGTGTGTGTGTGTATGTATATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTA		CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding					1073		chr7	TogoVar
CDH4_chr20_61247261_61945617	61565222	A A	AGGTGGTG others(94): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGCGGTGCTCTCGGTGGTAGGT GGTGGTGGTGGTGGTGGTGGTGGTGGCGGTGCTCTCGGTGGTAGGTGGTG GT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0103 a0002c0005t0005g0103	1	101	0.0099	101	c.170 others(122): Show c.170-178321_170-178320insTGGTGGTGGCGGTGCTCTCGGTGG TAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGCGGTGCTCTCGGTGGTAGG TGGTGGTGGTGGTGGTGGTGGTGGTGG		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61723863	C C	CGGCTCCA others(94): Show CGGCTCCATGCAACAGGTGGGGTGGGTCCCCATGCAGGGGGCACAGGATG GAGGCTCCATGTGGCAGGGGGGTAGGTCCCCATGCAGGCGGCACAGGATG GA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0031 a0002c0009t0031	a0002c0009t0031g0009 a0002c0009t0031g0009	1	81	0.0123	101	c.170 others(120): Show c.170-19690_170-19689insAACAGGTGGGGTGGGTCCCCATGCAG GGGGCACAGGATGGAGGCTCCATGTGGCAGGGGGGTAGGTCCCCATGCAG GCGGCACAGGATGGAGGCTCCATGC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAGA others(94): Show AAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGTATATGG GTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTACTATA AT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp1 HG02897.hp1 others(4): Show HG02109.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03540.hp1 HG06807.hp1 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 a0003c0003t0006	a0001c0001t0001g0109 a0002c0002t0002g0012 a0003c0003t0003g0078 others(1): Show a0001c0001t0001g0109 a0002c0002t0002g0012 a0003c0003t0003g0078 a0003c0003t0006g0171	7	14	0.5000	101	c.478 others(118): Show c.478-1175_478-1174insGATGGTCCTGAGTTGATAATTGAAACTG GCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTG TTTGAAATTTACTATAATAAAAA		CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP170B_chr14_104860268_104901747	104884793	G G	GGGGGGTG others(94): Show GGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAA CGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA AC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0197 a0002c0012t0002g0197	1	308	0.0032	101	c.177 others(118): Show c.1770+249_1770+250insTGGAGGCGATGCCGGGGGTGGCGAGTGA GAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTG AGAGCCCTCGTGGGGAACGGGGG		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104884794	G G	GGGGGTGG others(94): Show GGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAAC GGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAA CC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0020 a0020	a0020c0040 a0020c0040	a0020c0040t0011 a0020c0040t0011	a0020c0040t0011g0258 a0020c0040t0011g0258	1	317	0.0032	101	c.177 others(118): Show c.1770+249_1770+250insTGGAGGCGATGCCGGGGGTGGCGAGTGA GAGCCCTCGTGGGGAACGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTG AGAGCCCTCGTGGGGAACCGGGG		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr14	TogoVar

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