Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPH3AL_chr17_207389_357807	254816	T T	TGACTACC others(462): Show TGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTT TTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCC GCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTAC TTCCTATGAGGGGAGCCGCACGGCGTCTGCCCTTTTCCATCCCTAGGAAC GTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCT TTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0075 a0003c0016t0001g0075	1	133	0.0075	469	c.439 others(486): Show c.439-7532_439-7531insCCGTTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGG GACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAG GGATGGAAAAGGGCAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAG GGTAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAG ACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255352	T T	TGACTACC others(462): Show TGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCATCTGTCCTT TTCCATCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGAGCC GCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTAC TTCCTATGAGGTGAGCCGCACGGCATCTGTCCTTTTCCATCCCTAGGAAT ATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCT TTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGGGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	133	0.0075	469	c.439 others(486): Show c.439-8068_439-8067insCCATTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCATTCCTAGG GATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCATATTCCTAG GGATGGAAAAGGACAGATGCCGTGCGGCTCACCTCATAGGAAGTACGTAG GGTAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGATGGAAAAGGACAG ATGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255551	C C	CGTGACTA others(462): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TGTTCTGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACG TACTTCCTATAAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCGTCCCTAGGAAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	133	0.0075	469	c.439 others(486): Show c.439-8267_439-8266insATTCCTAGGGACGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGA TGGAAAAGGACAGACGCCGTGCGGCTCCCCTTATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACACCGTGCAGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACAGAACAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255700	T T	TACTTCCT others(462): Show TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTATCCTTTTCCATCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAG GAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGG GAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTA CGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCTGTCCCTA GGAACGTGACTACCCTACGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0023 a0011c0014t0023	a0011c0014t0023g0125 a0011c0014t0023g0125	1	133	0.0075	469	c.439 others(486): Show c.439-8416_439-8415insGCGTAGGGTAGTCACGTTCCTAGGGACA GAACAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAG TCACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATA GGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAAAAGGACAGACGCC GTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGAC GGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTA GTCACATTCCTAGGGATGGAAAAGGATAGACGCCGTGCGGCTCCCCTCAT AGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA CGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256891	C C	CGTGACTA others(462): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGT CCTGTTCTGTCCCTAGGAAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	133	0.0075	469	c.439 others(486): Show c.439-9607_439-9606insATTCCTAGGGACAGAACAGGACAGACAC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGA TGGAAAAGGACAGACACCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACA CCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGG ATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACATTCCTAGGGACAGAACAGGACAGACACCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGAC ACCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257025	T T	TGTGACTA others(462): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTC CTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGG AATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGTCTGT CCTGTTCCATCCCTAGGAAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	133	0.0075	469	c.439 others(486): Show c.439-9741_439-9740insGTTCCTAGGGATGGAACAGGACAGACGC CATGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCATATTCCTAGGGA TGGAAAAGGACAGACGCCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAACAGGACAGACG CCATGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGG ACGGAAAAGGACAGACGCCGTGCAGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAACAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257293	C C	CGTGACTA others(462): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGT CCTTTTCCGTCCCTAGGAAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	133	0.0075	469	c.439 others(488): Show c.439-10009_439-10008insATTCCTAGGGACGGAAAAGGACAGAC ACCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGG GACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAG GGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAG GGTAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAG ACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257617	A A	ATCCCTGG others(462): Show ATCCCTGGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTG ACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTT CCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGGGAGTCGC ACGGCGTCTGTCCTTTTCCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	133	0.0075	469	c.439 others(488): Show c.439-10333_439-10332insCGGAAAAGGACAGACGCCGTGCGACT CCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAAAAGG ACAGACACCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACGTT CCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTTATAGGAAGTA CGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCAGC TCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAG GACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACAT TCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGT ACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGA CTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCCAGGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257829	T T	TGTGACTA others(462): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCGTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATAAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTAT CCTTTTCCATCCCTAGGAAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	133	0.0075	469	c.439 others(488): Show c.439-10545_439-10544insGTTCCTAGGGATGGAAAAGGATAGAC GCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGG GATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGA CGCCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAG GGATGGAAAAGGACAGACGCCGTGCAGCTCCCCTTATAGGAAGTACGTAG GGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTCACATTCCTACGGATGGAAAAGGACAG ACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257830	G G	GTGACTAC others(462): Show GTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCATCTGTCCT TTTCCATCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATATGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGGGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG01070.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0061 a0001c0001t0008g0130 a0001c0001t0002g0061 a0001c0001t0008g0130	2	133	0.0150	469	c.439 others(488): Show c.439-10546_439-10545insTATTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAG GGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAG GGTAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAG ACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCATTCCTA GGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTA GGGTAGTCATATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCC CTCATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGATGGAAAAGGACA GATGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGAGGGGA others(462): Show AGAGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGGGAG GGGGACAGGGCGAGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGAGGGGACAGGGCGAGAGAG GGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGAGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGAACAGG GCGGGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGAGGGGACAGGGC GAGAGGGGACAGGGCGGGAG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0026 a0001c0023t0007g0026	1	133	0.0075	469	c.351 others(488): Show c.351+14310_351+14311insCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCTCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCCCGCCCTGTT CCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCCTCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCT CGCCCTGTCCCCTCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCTCGCCCTGTCCCCCTCCCG CCCTGTCCCCTCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(462): Show TATAACATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATTATATTATATATAATATATTATATATAATATAATATATA TTATATATAATATATAATATATATTATATGTTATATATAATATATATTAT ATGTTATATATAATATATATTATATGTTATATATAATATATATTTATATG TTATATATAATATATATTATATATTATATATAATATATAATATATATTAC ATATAATATATAATATATATTATATATTATATATTATATATTATATATTA TATATAATATATATTATATATTATATATAATATATAAATATATTATATAT AATATATAATATATAAATATATATTATATATTATATATAATATATAAATA TATATTATATATATTTAATATATATTTTATATATAAATATATATTATATA TATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	188	0.0053	469	c.193 others(488): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTTATATATTATATATTATATAT AATATATTTATATATTATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATAATATATAATATATATTATATATTATATGTAATA TATATTATATATTATATATAATATATAATATATATTATATATAACATATA AATATATATTATATATAACATATAATATATATTATATATAACATATAATA TATATTATATATAACATATAATATATATTATATATTATATATAATATATA TTATATTATATATAATATATTATATATAATATAATATATAATATATTATA TATAATATATTATATATAATATATATTATATATTATATGTTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(462): Show TATAATATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATTATATATAATATATATTATATATTATATATAATATATAA TATATTATATATAATTAATATATATTATATATAATATATAATATATATTA TATGTTATATATAATATATATTATATGTTATATATAATATATATTATATG TTATATATAATATATATTATATATTATATATAATATATAATATATATTAC ATATAATATATAATATATATTATATATTATATATTATATATTATATATTA TATATAATATATATTATATATTATATATAATATATAAATATATTATATAT AATATATAATATATAAATATATATTATATATTATATATAATATATAAATA TATATTATATATATTTAATATATATTTTATATATAAATATATATTATATA TATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0005 a0001c0001t0006g0028 a0001c0001t0002g0005 a0001c0001t0006g0028	2	188	0.0106	469	c.193 others(488): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTTATATATTATATATTATATAT AATATATTTATATATTATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATAATATATAATATATATTATATATTATATGTAATA TATATTATATATTATATATAATATATAATATATATTATATATAACATATA ATATATATTATATATAACATATAATATATATTATATATAACATATAATAT ATATTATATATTATATATAATATATATTAATTATATATAATATATTATAT ATTATATATAATATATAATATATATTATATATAATATATAATATATTATA TATAATATATTATATATAATATATATTATATATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TATGTATG others(462): Show TATGTATGTGATATGTGATATATATATCACATATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATCACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	244	0.0041	469	c.104 others(488): Show c.104-35140_104-35139insGTGTGATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATATGTGATATATATATCACATATCACATACAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(462): Show GTATTATATATTATATATTATATAATATATAATGTATTATATATTATATA ATATATAATGTATTATATATTATATAATATATAATATATAATGTATTATA TATTATATATTATATAATATATAATGTATTATATATTATATATTATATAA TATATAATGTATTATATATTATATATTATATAATATATAATGTATTATAT ATTATATATTATATAATATATAATGTATTATATATTATATATTATATAAT ATATAATGTATTATATATTATATAATATATAATATATAATGTATTATATA TTATATATTATATAATATATAATACATTATATATTATATAATATATAATA TATAATGTATTATATATTATATAATATATAATATATAATGTATTATTATA TATTATATAATATAATGTATTATATATTATATAATATATAATATATAATG TATTATATATTATATAATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp1 HG03540.hp1 others(1): Show HG01891.hp2 HG02970.hp1 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 others(1): Show a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0078	4	290	0.0138	469	c.234 others(486): Show c.234-7088_234-7087insATATTATATAATATATAATACATTATAT ATTATATATTATATAATATATAATACATTATATTATATAATATATAATAA TACATTATATATTATATATTATATAATATATAATACATTATATATTATAT ATTATATAATATATAATGTATTATATATTATATAATATATAATATATAAT ACATTATATATTATATATTATATAATATATAATACATTATATATTATATA ATATATAATATATAATACATTATATATTATATAATATATAATATATAATA CATTATATATTATATAATATATAATATATAATACATTATATATTATATAA TATATAATATATAATACATTATATATTATATAATATATAATATATAATAC ATTATATATTATATATTATATAATATATAATACATTATATATTATATAAT ATATAATACATTATATATTATATAATATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(462): Show ATATATATATAAATATATATAAATATATATAAATGTATATATAAATATAT ATAAATATATATAAATATATATAAATGTATATATAAATATATATATAAAT ATATATAAATATATATAACTATATATATAAATATATATATAAATATATAT AAATATATATAACTATATATAAATATATATATAAATATATATAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATAAAAAATATATATAAATATATAAATATATAAAAAATATATATAAATAT ATATAAATATATATAAATATATATATAAATATATAAAAAATATATATATA TATAAAAAAATATATAAATATATAAAAATATATTTATATATATAAATATA TAAAAATATATTTATATATATAAATATATTTATATATAAATATAAATATA TATAAATATATAAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0084 a0001c0001t0008g0084	1	186	0.0054	469	c.-50 others(480): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATAAATG TATATATAAATATATATAAATATATATAAATATATATAAATGTATATATA AATATATATATAAATATATATAAATATATATAACTATATATATAAATATA TATATAAATATATATAAATATATATAACTATATATAAATATATATATAAA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATAAAAAATATATATAAATATATAAATATATAAAA AATATATATAAATATATATAAATATATATAAATATATATATAAATATATA AAAAATATATATATATATAAAAAAATATATAAATATATAAAAATATATTT ATATATATAAATATATAAAAATATATTTATATATATAAATATATTTATAT ATAAATATAAATATATATAAATATATAAATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SNTG2_chr2_945849_1372613	1221558	C C	CCTCTCTG others(462): Show CCTCTCTGTCTCTCCCTGTCTCTGTCTGTCACTGTCTCTGCCTCTGTCTC TGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTC AGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTC TGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTC TCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTG CCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTG TCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTC TCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTC TCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTC TCTCTCTGTCTCTGTCTCTG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	190	0.0053	469	c.719 others(488): Show c.719+12328_719+12329insCTCTCTGTCTCTCCCTGTCTCTGTCT GTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCC CTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCT CTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCT CTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCT CTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCC CTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCC GTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCT CTGCCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(462): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATAATATATGATTATAAAATATAATCATATATAATATATGATTATAAAA TATAATCATATATTATATATGATTATAAAATATAATTATATATTATATAT GATTATAAAATATAATTATATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0037 a0001c0002t0029g0037	1	268	0.0037	469	c.75 others(480): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATAATATATGATTATAAAATATAATCATATATAA TATATGATTATAAAATATAATCATATATTATATATGATTATAAAATATAA TTATATATTATATATGATTATAAAATATAATTATATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(462): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATAATATATGATTATAAAATATAATCATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATTATATAT GATTATAAAATATAATTATATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	268	0.0037	469	c.75 others(480): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATAATATATGATTATAAAATATAATCATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATTATATATGATTATAAAATATAATTATATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(462): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATCATATATTATATATGATTATAAAA TATAATCATATATTATATATGATTATAAAATATAATTATATATTATATAT GATTATAAAATATAATTATATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	268	0.0037	469	c.75 others(480): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATCATATATTA TATATGATTATAAAATATAATCATATATTATATATGATTATAAAATATAA TTATATATTATATATGATTATAAAATATAATTATATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TCF3_chr19_1604292_1657615	1628699	A A	ACGGGGGT others(462): Show ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGG AAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAA GGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	352	0.0028	469	c.299 others(486): Show c.299-1274_299-1273insAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC CCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TEX19_chr17_82354247_82368775	82361204	C C	CTCAAGTT others(462): Show CTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTC CCTAAGGTTCTCTCAAGTTCCCTCAAGTTTCCCTCAGTTTCCCTCAGGTT CCCCCAGTTTCTCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTT CCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTT CCCTCAGTTTCCCTCAAGTTTCCCTCAGTTTCCCCCAGTTTCCCTCAAAT TTCCCTCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGG TTCCCCCAGTTTCCCTCAAGTTCCCCTCAGGTTCCCCCAGTTTCCCTCAA GTTTCCCTCGGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCTCA AGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCC CAGTTTCCCCCAGTTTCCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	380	0.0026	469	c.-27 others(486): Show c.-271-676_-271-675insTCAAGTTCCCCTCAGGTTCCCCCAGTTT CCCTCAGGTTCCCTCAGGTTCCCTAAGGTTCTCTCAAGTTCCCTCAAGTT TCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCTCTCAGGTTCCCTCAGTT TCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTT TCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAAGTTTCCCTCAGT TTCCCCCAGTTTCCCTCAAATTTCCCTCAGTTTCCCTCAGGTTCCCTCAG TTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAAGTTCCCCTCA GGTTCCCCCAGTTTCCCTCAAGTTTCCCTCGGGTTCCCCCAGTTTCCCTC AGGTTCCCTCAGGTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCT CAAGTTTCCCTCAGGTTCCCCCAGTTTCCCCCAGTTTCCCT	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1			chr17	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(462): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACATTCCCACCTTCCCACCTTCCCACCTCTCCCACCACTCCC ACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACATTCTC ACCTTCCCACCTTTCCACCTTCCCACCACTCCTACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACTGCTCCCAC CTTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCAC ATTCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	396	0.0025	469	c.695 others(484): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTAGGAGTGGTGGGAAGGTGGAAAGGTGGGAAGGTGAGAATGTGG GAGCGGTGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAGTGGTG GGAGAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGG GAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGG AGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGA AGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGA AGATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(462): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA GACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTA TCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	388	0.0026	469	c.26 others(480): Show c.2654_*2655insCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGATAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGATAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2350		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(462): Show GTATTATACATACGTAAATGTATATATGTATATATACATGTATTATACAT ACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTA TATATGTATATATACATGTATTATACATACGTAAATGTATAATGTATATA TACATGTATTATACATACGTAAATGTATAATGTATATATACATTATACAT ACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATG TATATATACATTATACATACGTAAATGTATAATGTATATATACATTATAC ATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATTA TACATAAATGTATATATGTATATATACATGTATTATACATACATAAATGT ATATATGTATATATACATGTATTATACATACATAAATGTATATATGTATA TATACATGTATGCACGTATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0231 a0001c0001t0009g0231	1	388	0.0026	469	c.-23 others(486): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATA TATACATTTATGTATGTATAATACATGTATATATACATATATACATTTAT GTATGTATAATACATGTATATATACATATATACATTTATGTATAATACAT TTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATG TATATATACATTATACATTTACGTATGTATAATGTATATATACATTATAC ATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAA TGTATATATACATTATACATTTACGTATGTATAATACATGTATATATACA TTATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAA TACATGTATATATACATATATACATTTACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870469	A A	ACACACAC others(462): Show ACACACACCACACCCCACACACACCACACACACCACACACCCCCCACACA CCACACCCCACACACACCACACACCCCACACACACATCACATACCCCACA CACCACACACCCCACACACACCACACACCCCCCACACACCACACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACACAC CACACACACCACACACCCCCCACACACCACACCCCACACACACCACACAC CCCACACACACATCACATACCCCACACACCACACACCCCACACACACCAC ACACCCCCCACACACCACACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACACACATCACATACCACACACAC ATCACATACCACACACAAAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	338	0.0030	469	c.35 others(488): Show c.35+21741_*35+21742insACCACACCCCACACACACCACACACA CCACACACCCCCCACACACCACACCCCACACACACCACACACCCCACACA CACATCACATACCCCACACACCACACACCCCACACACACCACACACCCCC CACACACCACACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACACACCACACACACCACACACCCCCCACACACCACAC CCCACACACACCACACACCCCACACACACATCACATACCCCACACACCAC ACACCCCACACACACCACACACCCCCCACACACCACACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACACCCCACACA CACCACACAAACCACACACCCTACACACCCCACACACACCACACACACAC ATCACATACCACACACACATCACATACCACACACAAACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(462): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAAT ATTTATATATTATATTTATGTAATATATAATATTTATATATTATATTTAT GTAATATATAATATTTATATATTATATTTATGTAATATATAATATTTATA TATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAATAT ATAATATTTATATATTATATTTATGTAATATATAATATTTATATATTATA TTTATGTAATATATAATATTTATATATATTTATGTAATATATAATATTTA TATATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAA TATTTATATATTATATTTATGTAATATATAATATTTATATATTATATTTA TGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0061	1	204	0.0049	469	c.213 others(488): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATTATAT ATTACATAAATATATATAAATATTATATATTACATAAATATATATAAATA TTATATATTACATAAATATATATAAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATAATATATAAATATTATATATTA CATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAA TATTATATATTACATAAATATAATATATAAATATTATATATTACATAAAT ATAATATATAAATATTATATATTACATAAATATAATATATAAATATTATA TATTACATAAATATAATATATAAATATTATATATTACATAAATATAATAT ATAATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VCX2_chrX_8164944_8176267	8169269	T T	TCCTCCCT others(462): Show TCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	115	0.0087	469	c.76 others(478): Show c.762_*763insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGG GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		674		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169496	T T	TCCTCCCT others(462): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCC CACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCC TCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCTCTT CCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCC CCACACACCACCGCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCTCTT CCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0001 a0014c0032t0001	a0014c0032t0001g0040 a0014c0032t0001g0040	1	115	0.0087	469	c.53 others(478): Show c.535_*536insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		447		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466846	A A	AGGGAGGG others(462): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGAAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGGAATAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG GAATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGAGGTGGTGTGTGGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0032 a0005c0010t0032	a0005c0010t0032g0004 a0005c0010t0032g0004	1	271	0.0037	469	c.46 others(478): Show c.463_*464insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGAAGGAATAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGGAA TAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGAGGT GGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		337		chrX	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(463): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATT TTTATATTTATAGATAAATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0056 a0002c0056	a0002c0056t0011 a0002c0056t0011	a0002c0056t0011g0022 a0002c0056t0011g0022	1	306	0.0033	470	c.130 others(489): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1063168	G G	GACACTGT others(463): Show GACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTG TTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTG AACTGAGGGCTATGCATGTTCCTCTAGATGCTGTTGTTACGTGAACTGAG GGCTATGCATGTTCCTCTAGATGCTGCTGTTATGTGAACTGAGGGCTATG CATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTC CTCTAGACGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCT GTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGT GAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTGAACTGAG GGCTATGCATGTTCCTCTAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG02622.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0038 a0001c0002t0012 a0001c0002t0038	a0001c0002t0012g0244 a0001c0002t0038g0013 a0001c0002t0012g0244 a0001c0002t0038g0013	2	337	0.0059	470	c.118 others(489): Show c.1182+3908_1182+3909insTCTAGAGGAACATGCATAGCCCTCAG TTCACGTAACAGCAGTGCTAGAGGAACATGCATAGCCCTCAGTTCACATA ACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGCAG CGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGTCTAG AGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGTCTAGAGGAACA TGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAG CCCTCAGTTCACATAACAGCAGCATCTAGAGGAACATGCATAGCCCTCAG TTCACGTAACAACAGCATCTAGAGGAACATGCATAGCCCTCAGTTCACAT AACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTG TCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ADAMTS19_chr5_129455298_129743683	129549914	G G	GTATCTAG others(463): Show GTATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATATGTATATCTAGATATACATATACATGTATCTGTATATGTATGT ATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATAC ATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTAT CTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTAT GTATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATAT ACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGT ATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGT ATGTATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGAT ATACATATACATGTATCTGTA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	226	0.0044	470	c.132 others(489): Show c.1329-1947_1329-1946insCTAGATATACATATACATGTATATGT ATATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTAT ATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTATCT AGATATACATATACATGTATCTGTATATGTATGTATCTAGATATACATAT ACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGT ATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTAT CTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATACAT ATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCT GTATATGTATGTATCTAGATATACATATACATGTATCTGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(463): Show TACACGTATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACA CACGTATATACGTATACGTGTACACACACATACACGTATATACGTATACG TGTACACACACATACACGTATACGTGTACACACACATACACGTCTACGTG TACACACATATACACGTCTACGTGTACACACATATACACGTCTACGTGTA CACACATATACACGTATACGTCTACGTGTACACACATATACACGTATACG TCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0140 a0001c0001t0100g0140	1	169	0.0059	470	c.48- others(487): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACACGTATATACGTATACGTGTACACACACAT ACACGTATATACGTATACGTGTACACACACATACACGTATACGTGTACAC ACACATACACGTCTACGTGTACACACATATACACGTCTACGTGTACACAC ATATACACGTCTACGTGTACACACATATACACGTATACGTCTACGTGTAC ACACATATACACGTATACGTCTACGTGTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AK3_chr9_4704556_4746202	4713900	C C	CTACACAT others(463): Show CTACACATATACACCTCCACATATACACACCTCCACATACACACCTCCAC ATATACACGCCTCCACATATACACGCCTCCACATATACACGCCTACACAT ATACACCTACACATATACACGCCTACGCATATACACGCCTACACATACAC GCCTACACATATACGCCTACACGTATACACCTACACGTATACACCTCCAC ATATACACACCTCCACATATACACACCTCCACATATACACACCTCCACAT ATACACCTACACATATACACACCTACACATATACACACCTACACATATAC ACCTACACATATACACACCTCCACATATACACCTACACATACACACCTAC ACATATACACCTACACATATGCACACCTACACATATACACCTCCACATAC ACACACCTCCACATATACACACCTACACATACGCCTACACATATATGCCT ACACATATACGCCTACACATA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0210 a0001c0001t0009g0210	1	462	0.0022	470	c.564 others(485): Show c.564-805_564-804insTATGTGTAGGCGTATATGTGTAGGCATATA TGTGTAGGCGTATGTGTAGGTGTGTATATGTGGAGGTGTGTGTATGTGGA GGTGTATATGTGTAGGTGTGCATATGTGTAGGTGTATATGTGTAGGTGTG TATGTGTAGGTGTATATGTGGAGGTGTGTATATGTGTAGGTGTATATGTG TAGGTGTGTATATGTGTAGGTGTGTATATGTGTAGGTGTATATGTGGAGG TGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTG TATACGTGTAGGTGTATACGTGTAGGCGTATATGTGTAGGCGTGTATGTG TAGGCGTGTATATGCGTAGGCGTGTATATGTGTAGGTGTATATGTGTAGG CGTGTATATGTGGAGGCGTGTATATGTGGAGGCGTGTATATGTGGAGGTG TGTATGTGGAGGTGTGTATATGTGGAGGTGTATATGTGTA	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AP3D1_chr19_2095988_2156566	2128705	C C	CCCCACAG others(463): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC ACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGA CACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCC GTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACT GCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0235 a0001c0004t0002g0235	1	406	0.0025	470	c.806 others(485): Show c.806+384_806+385insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCC ACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGG CGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGG GGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GATGATGG others(463): Show GATGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTGTGGTGT TGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGATAATG ATGGTAGTGGTGGTGGTGATGATGGTGATGATGATTATGATGGTGTGTTG GTGGTGCTGGTGATAATGGTGGTGGTGGTGGTGGTGATGGAAATGATGAT GTTAATTATGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGT TGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGATGGTGATGATG ATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGTGATAGTGGTGGTGGT GGTGCTGGTGATGATAATGGTGGTGGTGGTGATGATGGTGATGATGATTA TGATGGTGGTGTTGGTGGTGCTGGTGATGATAATCATGCTGGTGGTGGTG GCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0004 a0016c0025t0004	a0016c0025t0004g0054 a0016c0025t0004g0054	1	350	0.0029	470	c.33 others(481): Show c.3321_*3322insATGATGGTGGTGGTGGTGATGGAAATGATGATGA TGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTG TTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGATGATGAT TATGATGGTGTGTTGGTGGTGCTGGTGATAATGGTGGTGGTGGTGGTGGT GATGGAAATGATGATGTTAATTATGGTGTTGATGATGGTAATGATAATGA TTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTG GTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGT GATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGA TGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATC ATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GATGATGG others(463): Show GATGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTGTGGTGT TGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGGTGATA ATGATGGTAGTGGTGGTGGTGATGATGGTGATGATGATTATGATGGTGTG TTGGTGGTGCTGGTGATAATGGTGGTGGTGGTGGTGGTGATGGAAATGAT GATGTTAATTATGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGG TGTTGGTGGTGCTGGTGATAATGGTGGTGGTGGTGGTGATGGTGATGATG ATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGTGATAGTGGTGGTGGT GGTGCTGGTGATGATAATGGTGGTGGTGGTGATGATGGTGATGATGATTA TGATGGTGGTGTTGGTGGTGCTGGTGATGATAATCATGCTGGTGGTGGTG GCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0197 a0001c0002t0005g0197	1	350	0.0029	470	c.33 others(481): Show c.3321_*3322insATGATGGTGGTGGTGGTGATGGAAATGATGATGA TGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTG TTGGTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGATGAT GATTATGATGGTGTGTTGGTGGTGCTGGTGATAATGGTGGTGGTGGTGGT GGTGATGGAAATGATGATGTTAATTATGGTGTTGATGATGGTAATGATAA TGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATAATGGTGGTGGTGGTG GTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGT GATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGA TGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATC ATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
ASAP2_chr2_9201812_9410678	9305501	T T	TAGTAGTG others(463): Show TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGC TGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTAT AGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAG GCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGGCTGTAATAGTGGGG TATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGTA GAGGCTGTAGTAGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGAGGTA TAGATATTGGAGGGGCTGGAGTAGTGACATATAGATATTGGTGGAGGGGC TGTAATAGTGGGGTATAGATATTGGTGTAGAGGCTGTAGTAGTGGGGTAT AGATATTGGTTGACAGGCTGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0030 a0001c0007t0001g0030	1	210	0.0048	470	c.345 others(487): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGT AGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATAT TGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTA GTAGTGGGGTATAGATAATTGGTGGAGGGGCTGTAATAGTGGGGTATAGA TATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGTAGAGGCT GTAGTAGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGAGGTATAGATA TTGGAGGGGCTGGAGTAGTGACATATAGATATTGGTGGAGGGGCTGTAAT AGTGGGGTATAGATATTGGTGTAGAGGCTGTAGTAGTGGGGTATAGATAT TGGTTGACAGGCTGGAGTAGTGGGGTATAGATATTGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	83022566	G G	GCCCACCT others(463): Show GCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCC CACCTGCACCGGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCAC CGGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGT GAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCGGCGTGAA CTCACGTTAGCTCAGCACTGTCCCCGCCCCACCTGCACCGGCGTGAACTC ACGTTAGCTTAGCACTGTCCTCGGCCCACCTGCACCAGCGTGAACTCACA TGAGCTTAGCACTGTCCCCGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp2 HG02809.hp2 HG01891.hp1 HG02630.hp2 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0005t0003 a0001c0001t0001 a0001c0001t0002 a0002c0005t0003	a0001c0001t0001g0051 a0001c0001t0002g0064 a0002c0005t0003g0055 a0001c0001t0001g0051 a0001c0001t0002g0064 a0002c0005t0003g0055	3	266	0.0113	470	c.298 others(487): Show c.298-8048_298-8047insGCGGGGACAGTGCTAAGCTCATGTGAGT TCACGCTGGTGCAGGTGGGCCGAGGACAGTGCTAAGCTAACGTGAGTTCA CGCCGGTGCAGGTGGGGCGGGGACAGTGCTGAGCTAACGTGAGTTCACGC CGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGG TGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGC AGGTGGGCCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCCGGTGCAGG TGGGCCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGG GGCGGGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCC GGGGACAGTGCTAAGCTCATGTGAGTTCACGCCGGTGCAGGTGGGCCGGG GACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83022594	G G	GAGCTTAG others(463): Show GAGCTTAGCACTGTCCCCGGCCCACCTGCACCGGCGTGAACTCACGTTAG CTTAGCACTGTCCCCGGCCCACCTGCACCGGCGTGAACTCACGTTAGCTT AGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTCAGC ACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTCAGCACT GTCCCCGCCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTC CCCGCCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCC GGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGC CCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGCCCCA CCTGCACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGCCCCACCT GCACCAGCGTGAACTCACGTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0062 a0002c0005t0003g0062	1	266	0.0038	470	c.298 others(487): Show c.298-8076_298-8075insAACGTGAGTTCACGCTGGTGCAGGTGGG GCGGGGACAGTGCTAAGCTAACGTGAGTTCACGCTGGTGCAGGTGGGGCG GGGACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGG ACAGTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACA GTGCTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGACAGTG CTAAGCTCATGTGAGTTCACGCTGGTGCAGGTGGGGCGGGGACAGTGCTG AGCTAACGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTGAGC TCATGTGAGTTCACGCTGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTAA CGTGAGTTCACGCCGGTGCAGGTGGGCCGGGGACAGTGCTAAGCTAACGT GAGTTCACGCCGGTGCAGGTGGGCCGGGGACAGTGCTAAGCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	375110	A A	AAGGGAGG others(463): Show AAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAG GGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0109 a0004c0013t0002g0109	1	184	0.0054	470	c.784 others(485): Show c.784-344_784-343insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGA GGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(463): Show AGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGT GAGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAG CGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTC CTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTCCTG CGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTCCTGCGG TCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCT GGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGT CGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGG GTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0049 a0002c0002t0049	a0002c0002t0049g0117 a0002c0002t0049g0117	1	360	0.0028	470	c.92- others(485): Show c.92-2895_92-2894insGGGTTTTGCCACTGTGCTCAGCGGTGAGCG TCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCT TCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCT GCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTCCTGCG GTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTCCTGCGGTC TGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTCCTGCGGTCTGG TCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGGTCTGGTCG GGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGT TTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTCGGGTTTT GCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCTGGTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C13orf46_chr13_113948705_113979076	113974180	C C	CTGGGGCG others(463): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTT CTGCGTCTTCCCTTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTG CGTCTTCCCTTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGT CTTCCCTTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTT CCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCC TTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTC TTCTTTCCCGCAGGCCGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0069 a0002c0002t0004g0069	1	414	0.0024	470	c.-18 others(479): Show c.-184_-183insACCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAAC CCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCG CCCCAGCCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCC CAGCCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAG CCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCC CGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGG CCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCT GCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCG GGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		105		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113974274	T T	TTGGGGCG others(463): Show TTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTT CTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTG CGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGT CTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTT CCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCC TTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTC TTCTTTCCCGCAGGCCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0072 a0003c0003t0014g0072	1	414	0.0024	470	c.-27 others(479): Show c.-278_-277insGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAAC CCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCG CCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCC CAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAG CCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCC CGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGG CCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCT GCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCG GGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		199		chr13	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(463): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCAC GTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCC CTCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0377 a0001c0004t0003g0377	1	410	0.0024	470	c.-22 others(487): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCA others(463): Show CCTCCCCACGTCGCCGTCTCCCCCCACGGTCGCCGTCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCACAGTCGCCTCCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCACACGTCGCCCTCCCCCACGT CGCCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCC GCCCTCCCCCACAGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGGTCGC CTCCCCCACGTCGCCGTCTCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCACACGTCGCCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGTCG CCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0017 a0017	a0017c0047 a0017c0047	a0017c0047t0005 a0017c0047t0005	a0017c0047t0005g0263 a0017c0047t0005g0263	1	410	0.0024	470	c.-22 others(487): Show c.-22-2090_-22-2089insACGTCGCCGTCTCCCCCCACGGTCGCCG TCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCC CACAGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCACACGT CGCCCTCCCCCACGTCGCCCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CTCCCCCACGTCGCCGCCCTCCCCCACAGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGGTCGCCTCCCCCACGTCGCCGTCTCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCAC GTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCACACGTCGCCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTC TCCCCCACGTCGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(463): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCC CCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCG CCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	410	0.0024	470	c.-22 others(487): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC178_chr18_32932406_33445721	33116804	A A	ATTAGGTC others(463): Show ATTAGGTCAGATTCACTCCGGATAATGTCCTCATCCTAAAAATCAACTGA TTTGGGACTTTAATTACATGTGCAAAATTCCTTCACAGCAACTCCTCAGC AAATGTTAATTGAATGACTGGAAAATGTGTGTGTGTGTATATATATATAT ATATACACATATATCCTGGAATCAATCCGCAAAGCAGAATCAGTAGGATG CAGAGCTAGATAACAGGTGATGATGATGATAGATAGATAGATGCATAGAC AGACATAGATATAGACTATCTATCTATCTATCTAAAGTAATTAACTTTTG CAATTGTCAGGGAGGCTAAGTAAATTCAAAGTCTATCATCAGGAAGGATC ACAGGAAGGCTAGAAACCGTGAGTATGGGCTAAAACTGTTGTCCACAGAT AGAAGTTAGAATGTCTTCTTTCTCTCAGTCCACTCCTGTGTTCTCATAGG AGTTCTCCTACAACCTGGTTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02486.hp1 others(10): Show HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02922.hp1 HG03041.hp1 HG03195.hp2 HG03486.hp1 HG03710.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp1	a0002 a0003 a0006 others(1): Show a0002 a0003 a0006 a0011	a0002c0002 a0003c0003 a0006c0006 others(1): Show a0002c0002 a0003c0003 a0006c0006 a0011c0007	a0002c0002t0001 a0003c0003t0001 a0006c0006t0001 others(1): Show a0002c0002t0001 a0003c0003t0001 a0006c0006t0001 a0011c0007t0001	a0002c0002t0001g0053 a0003c0003t0001g0014 a0003c0003t0001g0018 others(10): Show a0002c0002t0001g0053 a0003c0003t0001g0014 a0003c0003t0001g0018 a0003c0003t0001g0022 a0003c0003t0001g0028 a0003c0003t0001g0036 a0003c0003t0001g0038 a0003c0003t0001g0041 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0058 a0006c0006t0001g0001 a0011c0007t0001g0025	13	58	0.2241	470	c.223 others(491): Show c.2239-23895_2239-23894insCAACCAGGTTGTAGGAGAACTCCT ATGAGAACACAGGAGTGGACTGAGAGAAAGAAGACATTCTAACTTCTATC TGTGGACAACAGTTTTAGCCCATACTCACGGTTTCTAGCCTTCCTGTGAT CCTTCCTGATGATAGACTTTGAATTTACTTAGCCTCCCTGACAATTGCAA AAGTTAATTACTTTAGATAGATAGATAGATAGTCTATATCTATGTCTGTC TATGCATCTATCTATCTATCATCATCATCACCTGTTATCTAGCTCTGCAT CCTACTGATTCTGCTTTGCGGATTGATTCCAGGATATATGTGTATATATA TATATATATACACACACACACATTTTCCAGTCATTCAATTAACATTTGCT GAGGAGTTGCTGTGAAGGAATTTTGCACATGTAATTAAAGTCCCAAATCA GTTGATTTTTAGGATGAGGACATTATCCGGAGTGAATCTGACCTAA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar
CCDC178_chr18_32932406_33445721	33116804	A A	ATTAGGTC others(463): Show ATTAGGTCAGATTCACTCCGGATAATGTCCTCATCCTAAAAATCAACTGA TTTGGGACTTTAATTACATGTGCAAAATTCCTTCACAGCAACTCCTCAGC AAATGTTAATTGAATGACTGGAAAATGTGTGTGTGTGTATATATATATAT ATATACACATATGTCCTGGAATCAATCCGCAAAGCAGAATCAGTAGGATG CAGAGCTAGATAACAGGTGATGATGATGATAGATAGATAGATGCATAGAC AGACATAGATATAGACTATCTATCTATCTATCTAAAGTAATTAACTTTTG CAATTGTCAGGGAGGCTAAGTAAATTCAAAGTCTATCATCAGGAAGGATC ACAGGAAGGCTAGAAACCGTGAGTATGGGCTAAAACTGTTGTCCACAGAT AGAAGTTAGAATGTCTTCTTTCTCTCAGTCCACTCCTGTGTTCTCATAGG AGTTCTCCTACAACCTGGTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02486.hp2 others(7): Show HG01243.hp2 HG02145.hp2 HG02486.hp2 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03540.hp1 NA19240.hp2	a0002 a0005 a0007 others(1): Show a0002 a0005 a0007 a0008	a0002c0002 a0005c0010 a0007c0008 others(1): Show a0002c0002 a0005c0010 a0007c0008 a0008c0009	a0002c0002t0001 a0002c0002t0002 a0005c0010t0001 others(2): Show a0002c0002t0001 a0002c0002t0002 a0005c0010t0001 a0007c0008t0001 a0008c0009t0002	a0002c0002t0001g0004 a0002c0002t0002g0009 a0002c0002t0002g0010 others(7): Show a0002c0002t0001g0004 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0045 a0002c0002t0002g0048 a0005c0010t0001g0039 a0007c0008t0001g0032 a0008c0009t0002g0002	10	58	0.1724	470	c.223 others(491): Show c.2239-23895_2239-23894insCAACCAGGTTGTAGGAGAACTCCT ATGAGAACACAGGAGTGGACTGAGAGAAAGAAGACATTCTAACTTCTATC TGTGGACAACAGTTTTAGCCCATACTCACGGTTTCTAGCCTTCCTGTGAT CCTTCCTGATGATAGACTTTGAATTTACTTAGCCTCCCTGACAATTGCAA AAGTTAATTACTTTAGATAGATAGATAGATAGTCTATATCTATGTCTGTC TATGCATCTATCTATCTATCATCATCATCACCTGTTATCTAGCTCTGCAT CCTACTGATTCTGCTTTGCGGATTGATTCCAGGACATATGTGTATATATA TATATATATACACACACACACATTTTCCAGTCATTCAATTAACATTTGCT GAGGAGTTGCTGTGAAGGAATTTTGCACATGTAATTAAAGTCCCAAATCA GTTGATTTTTAGGATGAGGACATTATCCGGAGTGAATCTGACCTAA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar

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